#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
LRRN3	54674	broad.mit.edu	37	7	110764027	110764027	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr7:110764027C>T	ENST00000422987.3	+	2	2030	c.1199C>T	c.(1198-1200)cCt>cTt	p.P400L	IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000450877.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.P400L|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.P400L|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000437687.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	400	LRRCT.				positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P399fs*16(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		GTGGACCCACCTGAATTCCAA	0.443																																						ENST00000451085.1																			1	Deletion - Frameshift(1)	p.P399fs*16(1)	skin(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(1198-1200)cCt>cTt		leucine rich repeat neuronal 3							114.0	98.0	104.0					7																	110764027		2203	4300	6503	SO:0001583	missense	54674					integral to membrane		g.chr7:110764027C>T	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1199C>T	7.37:g.110764027C>T	ENSP00000412417:p.Pro400Leu					IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.P400L|IMMP2L_ENST00000437687.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.P400L	p.P400L	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	2245	+			400			LRRCT.		O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	c.1199C>T	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.100590	0.76983	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	T;T;T	0.64260	-0.09;-0.09;-0.09	5.91	5.91	0.95273	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.64402	D	0.000010	T	0.79776	0.4504	M	0.76328	2.33	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	T	0.79436	-0.1804	10	0.56958	D	0.05	.	20.3011	0.98612	0.0:1.0:0.0:0.0	.	400	Q9H3W5	LRRN3_HUMAN	L	400	ENSP00000312001:P400L;ENSP00000397312:P400L;ENSP00000412417:P400L	ENSP00000312001:P400L	P	+	2	0	LRRN3	110551263	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.818000	0.86416	2.804000	0.96469	0.650000	0.86243	CCT		0.443	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		7	62	0	0	0	1	0	7	62				
ZNF106	64397	broad.mit.edu	37	15	42731450	42731450	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr15:42731450C>T	ENST00000263805.4	-	8	4582	c.4256G>A	c.(4255-4257)aGt>aAt	p.S1419N	ZNF106_ENST00000565380.1_Missense_Mutation_p.S647N|ZNF106_ENST00000565611.1_Missense_Mutation_p.S604N	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1419					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										AGACGAGTCACTATCTGGCTC	0.463																																						ENST00000263805.4																			0											c.(4255-4257)aGt>aAt		zinc finger protein 106							142.0	144.0	143.0					15																	42731450		2203	4299	6502	SO:0001583	missense	64397							g.chr15:42731450C>T	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.4256G>A	15.37:g.42731450C>T	ENSP00000263805:p.Ser1419Asn					ZNF106_ENST00000565611.1_Missense_Mutation_p.S604N|ZNF106_ENST00000565380.1_Missense_Mutation_p.S647N	p.S1419N	NM_022473.1	NP_071918.1					8	4582	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.4256G>A	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025160	0.75390	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	T	0.61392	0.11	5.25	5.25	0.73442	.	0.151110	0.64402	D	0.000018	T	0.73505	0.3595	L	0.54323	1.7	0.48395	D	0.99964	D;D;D	0.89917	0.999;1.0;0.997	D;D;D	0.83275	0.996;0.996;0.986	T	0.74990	-0.3475	10	0.72032	D	0.01	-19.9917	19.0271	0.92937	0.0:1.0:0.0:0.0	.	647;1419;647	E9PE29;Q9H2Y7;B4DZ40	.;ZF106_HUMAN;.	N	1419;647	ENSP00000263805:S1419N	ENSP00000263805:S1419N	S	-	2	0	ZFP106	40518742	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	4.119000	0.57891	2.713000	0.92767	0.650000	0.86243	AGT		0.463	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		51	100	0	0	0	1	0	51	100				
CTPS1	1503	broad.mit.edu	37	1	41475253	41475253	+	Silent	SNP	C	C	G			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr1:41475253C>G	ENST00000372621.4	+	17	2191	c.1683C>G	c.(1681-1683)ctC>ctG	p.L561L	CTPS1_ENST00000541520.1_Silent_p.L330L|CTPS1_ENST00000372616.1_Silent_p.L561L	NM_001905.2	NP_001896.2			CTP synthase 1											endometrium(3)|lung(10)	13						GCTGCAGGCTCTCACCCAGGT	0.537																																						ENST00000372621.4																			0				endometrium(3)|lung(10)	13						c.(1681-1683)ctC>ctG		CTP synthase 1	L-Glutamine(DB00130)						107.0	106.0	106.0					1																	41475253		2203	4300	6503	SO:0001819	synonymous_variant	1503				CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding	g.chr1:41475253C>G	BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	"""CTP synthase"""	CTPS		1783378	Standard	XM_005270536		Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.1683C>G	1.37:g.41475253C>G						CTPS1_ENST00000541520.1_Silent_p.L330L|CTPS1_ENST00000372616.1_Silent_p.L561L	p.L561L	NM_001905.2	NP_001896.2	P17812	PYRG1_HUMAN			17	2191	+			561						Silent	SNP	ENST00000372621.4	37	c.1683C>G	CCDS459.1																																																																																				0.537	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015629.1	NM_001905		44	57	0	0	0	1	0	44	57				
OGDHL	55753	broad.mit.edu	37	10	50953976	50953976	+	Silent	SNP	C	C	T			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr10:50953976C>T	ENST00000374103.4	-	11	1429	c.1344G>A	c.(1342-1344)ccG>ccA	p.P448P	OGDHL_ENST00000432695.1_Silent_p.P239P|OGDHL_ENST00000419399.1_Silent_p.P391P	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	448					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CCACGTCGGTCGGGTATGGTG	0.552																																						ENST00000374103.4																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						c.(1342-1344)ccG>ccA		oxoglutarate dehydrogenase-like							68.0	64.0	65.0					10																	50953976		2203	4300	6503	SO:0001819	synonymous_variant	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50953976C>T	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1344G>A	10.37:g.50953976C>T						OGDHL_ENST00000419399.1_Silent_p.P391P|OGDHL_ENST00000432695.1_Silent_p.P239P	p.P448P	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN			11	1429	-			448					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Silent	SNP	ENST00000374103.4	37	c.1344G>A	CCDS7234.1																																																																																				0.552	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		18	38	0	0	0	1	0	18	38				
DCLK1	9201	broad.mit.edu	37	13	36402390	36402390	+	Silent	SNP	G	G	T			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr13:36402390G>T	ENST00000360631.3	-	9	1495	c.1284C>A	c.(1282-1284)ggC>ggA	p.G428G	DCLK1_ENST00000255448.4_Silent_p.G428G|DCLK1_ENST00000379893.1_Silent_p.G121G			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	428	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TACATACTTTGCCTCGACATT	0.338																																						ENST00000255448.4																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64						c.(1282-1284)ggC>ggA		doublecortin-like kinase 1							97.0	94.0	95.0					13																	36402390		2203	4296	6499	SO:0001819	synonymous_variant	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36402390G>T	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.1284C>A	13.37:g.36402390G>T						DCLK1_ENST00000379893.1_Silent_p.G121G|DCLK1_ENST00000360631.3_Silent_p.G428G	p.G428G	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	9	1495	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	428			Protein kinase.		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Silent	SNP	ENST00000360631.3	37	c.1284C>A																																																																																					0.338	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		8	12	1	0	3.09899e-07	1	3.34204e-07	8	12				
KLK15	55554	broad.mit.edu	37	19	51330399	51330399	+	Silent	SNP	C	C	G			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr19:51330399C>G	ENST00000598239.1	-	3	246	c.216G>C	c.(214-216)ctG>ctC	p.L72L	KLK15_ENST00000416184.1_Silent_p.L72L|KLK15_ENST00000596931.1_Silent_p.L71L|KLK15_ENST00000301421.2_Silent_p.L72L|KLK15_ENST00000326856.4_Silent_p.L71L	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	72	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		TGTGCTCTCCCAGGCGCACTC	0.622																																					Pancreas(140;10 2513 7143 9246)	ENST00000326856.4																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24						c.(211-213)ctG>ctC		kallikrein-related peptidase 15							57.0	50.0	52.0					19																	51330399		2201	4298	6499	SO:0001819	synonymous_variant	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51330399C>G	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"""Kallikreins"""	20453	protein-coding gene	gene with protein product		610601	"""kallikrein 15"""			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.216G>C	19.37:g.51330399C>G						KLK15_ENST00000301421.2_Silent_p.L72L|KLK15_ENST00000596931.1_Silent_p.L71L|KLK15_ENST00000598239.1_Silent_p.L72L|KLK15_ENST00000416184.1_Silent_p.L72L	p.L71L	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	4	342	-		all_neural(266;0.057)	72			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Silent	SNP	ENST00000598239.1	37	c.213G>C	CCDS12805.1																																																																																				0.622	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509		23	24	0	0	0	1	0	23	24				
ANKRD30B	374860	broad.mit.edu	37	18	14850347	14850347	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr18:14850347T>C	ENST00000358984.4	+	35	3353	c.3173T>C	c.(3172-3174)aTa>aCa	p.I1058T		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1058										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ATACAAGATATAGAATTGAAA	0.279																																						ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(3172-3174)aTa>aCa		ankyrin repeat domain 30B							57.0	53.0	54.0					18																	14850347		692	1578	2270	SO:0001583	missense	374860							g.chr18:14850347T>C	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.3173T>C	18.37:g.14850347T>C	ENSP00000351875:p.Ile1058Thr						p.I1058T	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			35	3353	+			1143					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.3173T>C	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	T	3.439	-0.114450	0.06881	.	.	ENSG00000180777	ENST00000358984;ENST00000320584;ENST00000277669	T	0.15718	2.4	1.48	-2.5	0.06384	.	.	.	.	.	T	0.11922	0.0290	L	0.40543	1.245	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.04013	0.0;0.001	T	0.29549	-1.0008	9	0.38643	T	0.18	.	6.1629	0.20373	0.0:0.4731:0.0:0.5269	.	1143;1058	Q9BXX2;F8WAG3	AN30B_HUMAN;.	T	1058;452;478	ENSP00000351875:I1058T	ENSP00000277669:I478T	I	+	2	0	ANKRD30B	14840347	0.034000	0.19679	0.000000	0.03702	0.066000	0.16364	1.175000	0.31944	-0.719000	0.04942	0.145000	0.16022	ATA		0.279	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		3	8	0	0	0	1	0	3	8				
SLC4A1	6521	broad.mit.edu	37	17	42328795	42328795	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr17:42328795C>T	ENST00000262418.6	-	18	2628	c.2473G>A	c.(2473-2475)Gtc>Atc	p.V825I	AC003102.1_ENST00000399246.2_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	825	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		ACCCGCTTGACGTAGGGCACA	0.602																																						ENST00000262418.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40						c.(2473-2475)Gtc>Atc		solute carrier family 4 (anion exchanger), member 1							107.0	97.0	101.0					17																	42328795		2203	4300	6503	SO:0001583	missense	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42328795C>T		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.2473G>A	17.37:g.42328795C>T	ENSP00000262418:p.Val825Ile						p.V825I	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	18	2628	-		Breast(137;0.014)|Prostate(33;0.0181)	825			Membrane (anion exchange).		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	ENST00000262418.6	37	c.2473G>A	CCDS11481.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.920149	0.92249	.	.	ENSG00000004939	ENST00000262418	T	0.80214	-1.35	5.22	5.22	0.72569	Bicarbonate transporter, C-terminal (1);	0.199325	0.42964	D	0.000636	T	0.81725	0.4883	L	0.54323	1.7	0.80722	D	1	P	0.49447	0.924	P	0.46208	0.507	D	0.83921	0.0301	10	0.62326	D	0.03	.	18.7637	0.91864	0.0:1.0:0.0:0.0	.	825	P02730	B3AT_HUMAN	I	825	ENSP00000262418:V825I	ENSP00000262418:V825I	V	-	1	0	SLC4A1	39684321	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	5.956000	0.70315	2.579000	0.87056	0.561000	0.74099	GTC		0.602	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		31	56	0	0	0	1	0	31	56				
ZNF618	114991	broad.mit.edu	37	9	116811992	116811992	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr9:116811992G>T	ENST00000374126.5	+	15	2509	c.2410G>T	c.(2410-2412)Gtg>Ttg	p.V804L	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000288466.7_Missense_Mutation_p.V711L			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	804					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GGCCCACAAGGTGGCCATGAT	0.612																																						ENST00000288466.7																			0				breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						c.(2131-2133)Gtg>Ttg		zinc finger protein 618							44.0	51.0	49.0					9																	116811992		2075	4198	6273	SO:0001583	missense	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116811992G>T	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.2410G>T	9.37:g.116811992G>T	ENSP00000363241:p.Val804Leu					ZNF618_ENST00000374126.5_Missense_Mutation_p.V804L|ZNF618_ENST00000470105.1_3'UTR	p.V711L	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN			14	2230	+			804					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	ENST00000374126.5	37	c.2131G>T		.	.	.	.	.	.	.	.	.	.	G	22.0	4.235357	0.79800	.	.	ENSG00000157657	ENST00000374126;ENST00000288466	T;T	0.21734	1.99;1.99	5.39	5.39	0.77823	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.48466	0.1501	.	.	.	0.80722	D	1	P;D;D	0.69078	0.932;0.994;0.997	P;D;D	0.77557	0.891;0.978;0.99	T	0.38265	-0.9669	9	0.45353	T	0.12	-22.7284	18.5094	0.90910	0.0:0.0:1.0:0.0	.	771;804;711	B9EG82;Q5T7W0;Q5T7W0-2	.;ZN618_HUMAN;.	L	804;711	ENSP00000363241:V804L;ENSP00000288466:V711L	ENSP00000288466:V711L	V	+	1	0	ZNF618	115851813	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.407000	0.80029	2.700000	0.92200	0.561000	0.74099	GTG		0.612	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		7	98	1	0	2.0095e-06	1	2.08533e-06	7	98				
MTCP1	4515	broad.mit.edu	37	X	154294021	154294021	+	Missense_Mutation	SNP	G	G	C			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chrX:154294021G>C	ENST00000369476.3	-	3	728	c.149C>G	c.(148-150)cCc>cGc	p.P50R	CMC4_ENST00000369479.1_5'Flank|MTCP1_ENST00000362018.2_Missense_Mutation_p.P50R|CMC4_ENST00000369484.3_Intron|MTCP1_ENST00000482244.1_5'UTR	NM_001018025.3	NP_001018025.1	P56278	MTCP1_HUMAN	mature T-cell proliferation 1	50					cell proliferation (GO:0008283)	mitochondrion (GO:0005739)				large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	5	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GTCACCTAAGGGAACCTGAAT	0.478			T	TRA@	T cell prolymphocytic leukemia																																	ENST00000369476.3				Dom	yes		X	Xq28	4515	T	mature T-cell proliferation 1			L	TRA@		T cell prolymphocytic leukemia		0				large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	5						c.(148-150)cCc>cGc		mature T-cell proliferation 1							97.0	93.0	95.0					X																	154294021		2034	4161	6195	SO:0001583	missense	4515				cell proliferation			g.chrX:154294021G>C		CCDS44027.1	Xq28	2011-10-10			ENSG00000214827	ENSG00000214827			7423	protein-coding gene	gene with protein product		300116				8361760, 8634440, 9691281	Standard	NM_001018025		Approved	P13MTCP1, p8MTCP1	uc004fmz.2	P56278	OTTHUMG00000156241	ENST00000369476.3:c.149C>G	X.37:g.154294021G>C	ENSP00000358488:p.Pro50Arg					MTCP1_ENST00000482244.1_5'UTR|CMC4_ENST00000369484.3_Intron|MTCP1_ENST00000362018.2_Missense_Mutation_p.P50R	p.P50R	NM_001018025.3	NP_001018025.1	P56278	MTCP1_HUMAN			3	728	-	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		50					Q5HYP2	Missense_Mutation	SNP	ENST00000369476.3	37	c.149C>G	CCDS44027.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.510560	0.44660	.	.	ENSG00000214827	ENST00000369476;ENST00000362018	T;T	0.29397	1.57;1.57	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000004	T	0.49321	0.1550	L	0.50333	1.59	0.40821	D	0.983502	D	0.65815	0.995	D	0.76071	0.987	T	0.42599	-0.9442	10	0.41790	T	0.15	-15.2201	15.1393	0.72599	0.0:0.0:1.0:0.0	.	50	P56278	MTCP1_HUMAN	R	50	ENSP00000358488:P50R;ENSP00000355058:P50R	ENSP00000355058:P50R	P	-	2	0	MTCP1	153947215	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.021000	0.70832	2.414000	0.81942	0.600000	0.82982	CCC		0.478	MTCP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058776.1	NM_001018025		33	4	0	0	0	1	0	33	4				
MAPKAP1	79109	broad.mit.edu	37	9	128230300	128230300	+	Silent	SNP	G	G	A			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr9:128230300G>A	ENST00000373498.1	-	9	1364	c.1296C>T	c.(1294-1296)atC>atT	p.I432I	MAPKAP1_ENST00000373497.5_Silent_p.I145I|MAPKAP1_ENST00000265960.3_Silent_p.I432I|MAPKAP1_ENST00000373503.3_Silent_p.I240I|MAPKAP1_ENST00000373511.2_Silent_p.I385I|MAPKAP1_ENST00000394063.1_Silent_p.I240I|MAPKAP1_ENST00000483937.1_5'UTR|MAPKAP1_ENST00000350766.3_Silent_p.I396I			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	432					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						GGTCGGAATCGATTGAGATGG	0.453																																						ENST00000265960.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						c.(1294-1296)atC>atT		mitogen-activated protein kinase associated protein 1							200.0	192.0	195.0					9																	128230300		2203	4300	6503	SO:0001819	synonymous_variant	79109				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding	g.chr9:128230300G>A	M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"""stress-activated protein kinase-interacting 1"""	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.1296C>T	9.37:g.128230300G>A						MAPKAP1_ENST00000373503.3_Silent_p.I240I|MAPKAP1_ENST00000373498.1_Silent_p.I432I|MAPKAP1_ENST00000373497.5_Silent_p.I145I|MAPKAP1_ENST00000483937.1_5'UTR|MAPKAP1_ENST00000350766.3_Silent_p.I396I|MAPKAP1_ENST00000373511.2_Silent_p.I385I|MAPKAP1_ENST00000394063.1_Silent_p.I240I	p.I432I	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN			10	1628	-			432					A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Silent	SNP	ENST00000373498.1	37	c.1296C>T	CCDS35140.1																																																																																				0.453	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054092.1			8	107	0	0	0	1	0	8	107				
ZNF233	353355	broad.mit.edu	37	19	44778000	44778000	+	Missense_Mutation	SNP	G	G	C			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr19:44778000G>C	ENST00000391958.2	+	5	1314	c.1187G>C	c.(1186-1188)aGa>aCa	p.R396T	ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Missense_Mutation_p.R378T|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	396					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GCTGGAGAGAGAGCCTGTAAA	0.448																																						ENST00000391958.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20						c.(1186-1188)aGa>aCa		zinc finger protein 233							90.0	89.0	90.0					19																	44778000		2203	4300	6503	SO:0001583	missense	353355				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44778000G>C	AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1187G>C	19.37:g.44778000G>C	ENSP00000375820:p.Arg396Thr					ZNF233_ENST00000334152.1_Missense_Mutation_p.R378T|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR	p.R396T	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN			5	1314	+		Prostate(69;0.0435)|all_neural(266;0.226)	396					B2RN78|B2RN79|Q86WL8	Missense_Mutation	SNP	ENST00000391958.2	37	c.1187G>C	CCDS33047.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.892329	0.33442	.	.	ENSG00000159915	ENST00000334152;ENST00000391958;ENST00000280305	T;T	0.16897	2.31;2.31	4.28	0.62	0.17637	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15739	0.0379	L	0.56280	1.765	0.23076	N	0.998331	B	0.10296	0.003	B	0.08055	0.003	T	0.26189	-1.0110	9	0.87932	D	0	.	6.0549	0.19807	0.7357:0.15:0.1143:0.0	.	396	A6NK53	ZN233_HUMAN	T	378;396;317	ENSP00000334957:R378T;ENSP00000375820:R396T	ENSP00000280305:R317T	R	+	2	0	ZNF233	49469840	0.540000	0.26410	0.002000	0.10522	0.005000	0.04900	1.453000	0.35167	-0.170000	0.10816	-0.216000	0.12614	AGA		0.448	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756		41	23	0	0	0	1	0	41	23				
CHD1	1105	broad.mit.edu	37	5	98229277	98229277	+	Missense_Mutation	SNP	C	C	G			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr5:98229277C>G	ENST00000284049.3	-	13	1983	c.1834G>C	c.(1834-1836)Ggt>Cgt	p.G612R		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	612	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TCATCAACACCTATAAATGCC	0.333																																						ENST00000284049.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(1834-1836)Ggt>Cgt		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						88.0	98.0	95.0					5																	98229277		2203	4300	6503	SO:0001583	missense	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98229277C>G	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.1834G>C	5.37:g.98229277C>G	ENSP00000284049:p.Gly612Arg						p.G612R	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	13	1983	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	612			Helicase ATP-binding.		Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	c.1834G>C	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769696	0.90020	.	.	ENSG00000153922	ENST00000284049	D	0.93307	-3.2	5.54	5.54	0.83059	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.34088	U	0.004277	D	0.92635	0.7660	N	0.08118	0	0.80722	D	1	D	0.69078	0.997	D	0.67725	0.953	D	0.94276	0.7515	10	0.56958	D	0.05	.	19.4966	0.95075	0.0:1.0:0.0:0.0	.	612	O14646	CHD1_HUMAN	R	612	ENSP00000284049:G612R	ENSP00000284049:G612R	G	-	1	0	CHD1	98257177	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.792000	0.85828	2.616000	0.88540	0.650000	0.86243	GGT		0.333	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		45	5	0	0	0	1	0	45	5				
DNAH17	8632	broad.mit.edu	37	17	76566365	76566365	+	Silent	SNP	G	G	T			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr17:76566365G>T	ENST00000585328.1	-	7	1132	c.1008C>A	c.(1006-1008)gtC>gtA	p.V336V	DNAH17_ENST00000389840.5_Silent_p.V336V	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	336	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCTGCAGGATGACGATGATCC	0.597																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(1006-1008)gtC>gtA		dynein, axonemal, heavy chain 17							65.0	51.0	56.0					17																	76566365		2203	4299	6502	SO:0001819	synonymous_variant	8632							g.chr17:76566365G>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.1008C>A	17.37:g.76566365G>T						DNAH17_ENST00000585328.1_Silent_p.V336V	p.V336V					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		7	1132	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.1008C>A																																																																																					0.597	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		9	10	1	0	5.4927e-09	1	6.04197e-09	9	10				
TLL1	7092	broad.mit.edu	37	4	167020676	167020676	+	Silent	SNP	C	C	T	rs115401178	byFrequency	TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr4:167020676C>T	ENST00000061240.2	+	20	3551	c.2904C>T	c.(2902-2904)tcC>tcT	p.S968S	TLL1_ENST00000507499.1_Silent_p.S991S	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	968	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TCTGTGGATCCGGGGTAAATA	0.423													C|||	6	0.00119808	0.0	0.0	5008	,	,		16277	0.006		0.0	False		,,,				2504	0.0					ENST00000061240.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(2902-2904)tcC>tcT		tolloid-like 1							152.0	158.0	156.0					4																	167020676		2203	4300	6503	SO:0001819	synonymous_variant	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:167020676C>T	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.2904C>T	4.37:g.167020676C>T						TLL1_ENST00000507499.1_Silent_p.S991S	p.S968S	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	20	3551	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	968			CUB 5.		B2RMU2|Q96AN3|Q9NQS4	Silent	SNP	ENST00000061240.2	37	c.2904C>T	CCDS3811.1																																																																																				0.423	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			64	64	0	0	0	1	0	64	64				
CHST4	10164	broad.mit.edu	37	16	71570800	71570800	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr16:71570800C>T	ENST00000338482.5	+	3	563	c.220C>T	c.(220-222)Ccc>Tcc	p.P74S	CHST4_ENST00000572450.1_Missense_Mutation_p.P74S|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Missense_Mutation_p.P74S|RP11-510M2.5_ENST00000568523.1_RNA			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	74					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						CCTGATGGAGCCCGCCTGGCA	0.587																																						ENST00000338482.5																			0				cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(220-222)Ccc>Tcc		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4							106.0	106.0	106.0					16																	71570800		2198	4300	6498	SO:0001583	missense	10164				cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:71570800C>T	AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"""Sulfotransferases, membrane-bound"""	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.220C>T	16.37:g.71570800C>T	ENSP00000341206:p.Pro74Ser					CHST4_ENST00000572450.1_Missense_Mutation_p.P74S|CHST4_ENST00000539698.3_Missense_Mutation_p.P74S|ZNF19_ENST00000568446.1_Intron|RP11-510M2.9_ENST00000572693.1_RNA	p.P74S			Q8NCG5	CHST4_HUMAN			3	563	+			74					Q8IV46|Q9Y5R3	Missense_Mutation	SNP	ENST00000338482.5	37	c.220C>T	CCDS10902.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044735	0.93685	.	.	ENSG00000140835	ENST00000338482;ENST00000539698	D;D	0.99245	-5.62;-5.62	6.0	6.0	0.97389	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.99606	0.9857	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98156	1.0444	10	0.87932	D	0	-10.4417	17.9887	0.89162	0.0:1.0:0.0:0.0	.	74	Q8NCG5	CHST4_HUMAN	S	74	ENSP00000341206:P74S;ENSP00000441204:P74S	ENSP00000341206:P74S	P	+	1	0	CHST4	70128301	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.818000	0.86416	2.848000	0.98002	0.655000	0.94253	CCC		0.587	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268992.4	NM_005769		5	87	0	0	0	1	0	5	87				
DIXDC1	85458	broad.mit.edu	37	11	111845678	111845678	+	Missense_Mutation	SNP	A	A	T			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr11:111845678A>T	ENST00000529225.1	+	6	904	c.624A>T	c.(622-624)caA>caT	p.Q208H	DIXDC1_ENST00000531396.1_Missense_Mutation_p.Q209H|DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000315253.5_5'Flank|DIXDC1_ENST00000440460.2_Missense_Mutation_p.Q209H	NM_001278542.1	NP_001265471.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	209	Actin-binding.				camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		AAGGGCAACAAAGGTCCCCGT	0.507																																						ENST00000440460.2																			0				cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17						c.(625-627)caA>caT		DIX domain containing 1							67.0	72.0	70.0					11																	111845678		1968	4147	6115	SO:0001583	missense	85458				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity	g.chr11:111845678A>T	AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000529225.1:c.624A>T	11.37:g.111845678A>T	ENSP00000434130:p.Gln208His					DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000531396.1_Missense_Mutation_p.Q209H|DIXDC1_ENST00000529225.1_Missense_Mutation_p.Q208H	p.Q209H	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)	5	924	+		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	209			Actin-binding.		A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Missense_Mutation	SNP	ENST00000529225.1	37	c.627A>T		.	.	.	.	.	.	.	.	.	.	A	13.91	2.379285	0.42207	.	.	ENSG00000150764	ENST00000529225;ENST00000440460;ENST00000531396	T;T;T	0.77877	-1.13;-0.59;-1.12	5.88	-7.25	0.01470	.	0.413834	0.23049	N	0.052501	T	0.53174	0.1780	N	0.08118	0	0.80722	D	1	B;B;B	0.10296	0.003;0.002;0.003	B;B;B	0.12156	0.002;0.007;0.002	T	0.04551	-1.0943	10	0.31617	T	0.26	-2.2995	15.6714	0.77279	0.2476:0.0:0.6579:0.0944	.	209;209;208	Q155Q3;Q155Q3-4;E9PRV4	DIXC1_HUMAN;.;.	H	208;209;209	ENSP00000434130:Q208H;ENSP00000394352:Q209H;ENSP00000432959:Q209H	ENSP00000394352:Q209H	Q	+	3	2	DIXDC1	111350888	0.003000	0.15002	0.717000	0.30585	0.843000	0.47879	-1.277000	0.02812	-1.506000	0.01805	0.455000	0.32223	CAA		0.507	DIXDC1-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000391831.1	NM_001037954		5	18	0	0	0	1	0	5	18				
RTTN	25914	broad.mit.edu	37	18	67844063	67844063	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr18:67844063C>T	ENST00000255674.6	-	11	1610	c.1324G>A	c.(1324-1326)Gtg>Atg	p.V442M	RTTN_ENST00000454359.1_Missense_Mutation_p.V442M|RTTN_ENST00000437017.1_Missense_Mutation_p.V442M	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	442					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GCTCCCAACACCAGGAGTAGT	0.428																																						ENST00000255674.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(1324-1326)Gtg>Atg		rotatin							123.0	120.0	121.0					18																	67844063		1868	4104	5972	SO:0001583	missense	25914						binding	g.chr18:67844063C>T	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.1324G>A	18.37:g.67844063C>T	ENSP00000255674:p.Val442Met					RTTN_ENST00000437017.1_Missense_Mutation_p.V442M|RTTN_ENST00000454359.1_Missense_Mutation_p.V442M	p.V442M	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN			11	1610	-		Esophageal squamous(42;0.129)	442					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.1324G>A	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	C	8.506	0.865413	0.17250	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	T;T;T	0.65732	0.41;-0.17;-0.17	5.31	3.46	0.39613	Armadillo-type fold (1);	0.299142	0.33346	N	0.005003	T	0.63295	0.2499	L	0.60455	1.87	0.09310	N	0.999996	P;P	0.49783	0.928;0.905	P;P	0.49922	0.626;0.581	T	0.56829	-0.7914	10	0.62326	D	0.03	.	8.3203	0.32126	0.0:0.7482:0.0:0.2518	.	442;442	Q86VV8-2;Q86VV8	.;RTTN_HUMAN	M	442	ENSP00000255674:V442M;ENSP00000402352:V442M;ENSP00000399520:V442M	ENSP00000255674:V442M	V	-	1	0	RTTN	65995043	0.097000	0.21791	0.264000	0.24511	0.928000	0.56348	1.086000	0.30853	0.554000	0.29061	0.544000	0.68410	GTG		0.428	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		9	102	0	0	0	1	0	9	102				
CRYM-AS1	400508	broad.mit.edu	37	16	21328228	21328228	+	lincRNA	SNP	C	C	T			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr16:21328228C>T	ENST00000444326.1	+	0	344							A6NIL9	CRAS1_HUMAN	CRYM antisense RNA 1							integral component of membrane (GO:0016021)											CCTCACATTTCTGTTTAGTGC	0.398																																						ENST00000444326.1																			0																				182.0	167.0	172.0					16																	21328228		1858	4103	5961			0							g.chr16:21328228C>T			16p12.2	2012-10-12	2012-08-15	2011-08-11	ENSG00000189149	ENSG00000189149		"""Long non-coding RNAs"""	34405	non-coding RNA	RNA, long non-coding			"""non-protein coding RNA 169"", ""CRYM antisense RNA 1 (non-protein coding)"""	NCRNA00169			Standard	NR_026675		Approved	FLJ41766	uc010bwr.1	A6NIL9	OTTHUMG00000156701		16.37:g.21328228C>T														0	344	+								B3KVZ2	RNA	SNP	ENST00000444326.1	37																																																																																						0.398	CRYM-AS1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000345335.1	NR_026675		5	175	0	0	0	1	0	5	175				
ERC1	23085	broad.mit.edu	37	12	1219473	1219473	+	Missense_Mutation	SNP	T	T	G			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr12:1219473T>G	ENST00000397203.2	+	5	1683	c.1277T>G	c.(1276-1278)aTg>aGg	p.M426R	ERC1_ENST00000546231.2_Missense_Mutation_p.M426R|ERC1_ENST00000355446.5_Missense_Mutation_p.M426R|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000589028.1_Missense_Mutation_p.M426R|ERC1_ENST00000360905.4_Missense_Mutation_p.M426R|ERC1_ENST00000543086.3_Missense_Mutation_p.M426R			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	426					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			ATGAAGCAAATGGAAGTGTAT	0.373																																						ENST00000397203.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(1276-1278)aTg>aGg		ELKS/RAB6-interacting/CAST family member 1							111.0	113.0	112.0					12																	1219473		2203	4300	6503	SO:0001583	missense	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1219473T>G	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.1277T>G	12.37:g.1219473T>G	ENSP00000380386:p.Met426Arg					ERC1_ENST00000543086.3_Missense_Mutation_p.M426R|ERC1_ENST00000360905.4_Missense_Mutation_p.M426R|ERC1_ENST00000546231.2_Missense_Mutation_p.M426R|ERC1_ENST00000589028.1_Missense_Mutation_p.M426R|ERC1_ENST00000355446.5_Missense_Mutation_p.M426R|ERC1_ENST00000536573.2_3'UTR	p.M426R			Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		5	1683	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		426					A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	c.1277T>G	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.722775	0.89298	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000543086;ENST00000542302;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.65647	0.2711	M	0.65498	2.005	0.80722	D	1	P;P;D;D;D	0.67145	0.942;0.898;0.996;0.985;0.994	P;P;P;P;D	0.63597	0.708;0.622;0.823;0.852;0.916	T	0.66348	-0.5946	10	0.49607	T	0.09	-24.7938	16.422	0.83766	0.0:0.0:0.0:1.0	.	202;63;426;426;426	F5H327;F5GZU8;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;.;RB6I2_HUMAN	R	426;426;426;426;426;426;426;426;426;426;202;63	ENSP00000340054:M426R;ENSP00000380386:M426R;ENSP00000438546:M426R;ENSP00000445336:M426R;ENSP00000442739:M426R;ENSP00000347621:M426R;ENSP00000354158:M426R;ENSP00000410064:M426R	ENSP00000340054:M426R	M	+	2	0	ERC1	1089734	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.004000	0.88535	2.283000	0.76528	0.477000	0.44152	ATG		0.373	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		25	27	0	0	0	1	0	25	27				
CYP2D7	1564	broad.mit.edu	37	22	42538870	42538870	+	RNA	SNP	A	A	C	rs2982057	byFrequency	TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr22:42538870A>C	ENST00000428786.1	-	0	0				CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000424775.1_RNA																							CCATAGCGCGACAGGAACACC	0.687													N|||	80	0.0159744	0.0023	0.0317	5008	,	,		11900	0.0109		0.0348	False		,,,				2504	0.0092					ENST00000433992.1																			0				endometrium(1)	1																																														0							g.chr22:42538870A>C																													22.37:g.42538870A>C						CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000424775.1_RNA								0	475	-									RNA	SNP	ENST00000428786.1	37			30	0.013736263736263736	1	0.0020325203252032522	5	0.013812154696132596	5	0.008741258741258742	19	0.025065963060686015	C	8.846	0.943329	0.18281	.	.	ENSG00000205702	ENST00000428297;ENST00000381321;ENST00000436260	.	.	.	3.26	3.26	0.37387	.	.	.	.	.	T	0.04724	0.0128	.	.	.	0.28613	N	0.908552	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.23154	-1.0196	7	0.02654	T	1	.	8.0614	0.30635	0.2422:0.7578:0.0:0.0	rs2982057	122;32	Q6XP50;F5H167	.;.	A	121;71;32	.	ENSP00000446103:S71A	S	-	1	0	CYP2D7P1	40868814	0.299000	0.24426	0.017000	0.16124	0.002000	0.02628	0.565000	0.23578	0.961000	0.38030	-0.290000	0.09829	TCG		0.687	RP4-669P10.16-001	KNOWN	basic|exp_conf	sense_intronic	sense_intronic	OTTHUMT00000320534.1			3	38	0	0	0	1	0	3	38				
EBI3	10148	broad.mit.edu	37	19	4236975	4236975	+	Missense_Mutation	SNP	C	C	T	rs182560914		TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr19:4236975C>T	ENST00000221847.5	+	5	633	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W		NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3	194	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|humoral immune response (GO:0006959)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|T-helper 1 type immune response (GO:0042088)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGCTGTGCGGCCCCGAGC	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		14648	0.0		0.001	False		,,,				2504	0.0					ENST00000221847.5																			0				large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(580-582)Cgg>Tgg		Epstein-Barr virus induced 3							58.0	57.0	57.0					19																	4236975		2203	4300	6503	SO:0001583	missense	10148				humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process|T-helper 1 type immune response	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity	g.chr19:4236975C>T	L08187	CCDS12123.1	19p13	2013-02-11	2008-09-12		ENSG00000105246	ENSG00000105246		"""Fibronectin type III domain containing"""	3129	protein-coding gene	gene with protein product	"""IL27 subunit"", ""IL35 subunit"""	605816				8551575	Standard	NM_005755		Approved		uc002lzu.3	Q14213		ENST00000221847.5:c.580C>T	19.37:g.4236975C>T	ENSP00000221847:p.Arg194Trp						p.R194W	NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)	5	633	+		Hepatocellular(1079;0.137)	194			Fibronectin type-III 2.		A0N0N2|O75269	Missense_Mutation	SNP	ENST00000221847.5	37	c.580C>T	CCDS12123.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.49	1.954193	0.34471	.	.	ENSG00000105246	ENST00000221847	T	0.59502	0.26	5.41	-0.774	0.10991	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.861076	0.10217	N	0.701413	T	0.47544	0.1451	L	0.54323	1.7	0.09310	N	1	B	0.26147	0.143	B	0.20577	0.03	T	0.36939	-0.9727	10	0.40728	T	0.16	-21.3836	7.7652	0.28976	0.4553:0.4575:0.0:0.0872	.	194	Q14213	IL27B_HUMAN	W	194	ENSP00000221847:R194W	ENSP00000221847:R194W	R	+	1	2	EBI3	4187975	0.000000	0.05858	0.002000	0.10522	0.035000	0.12851	-0.061000	0.11693	-0.095000	0.12351	0.650000	0.86243	CGG		0.607	EBI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458005.1			3	57	0	0	0	1	0	3	57				
IFNW1	3467	broad.mit.edu	37	9	21141119	21141119	+	Missense_Mutation	SNP	G	G	T	rs141528866	byFrequency	TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr9:21141119G>T	ENST00000380229.2	-	1	1025	c.451C>A	c.(451-453)Cgt>Agt	p.R151S		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	151					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cell cycle arrest (GO:0007050)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGGTAGACACGGATTCCCTGG	0.483																																						ENST00000380229.2																			0				endometrium(1)|kidney(1)|lung(2)|ovary(1)	5						c.(451-453)Cgt>Agt		interferon, omega 1							95.0	89.0	91.0					9																	21141119		2203	4300	6503	SO:0001583	missense	3467				cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21141119G>T		CCDS6496.1	9p22	2010-12-10			ENSG00000177047	ENSG00000177047		"""Interferons"""	5448	protein-coding gene	gene with protein product	"""IFN-omega 1, interferon omega-1"""	147553				1385305	Standard	NM_002177		Approved		uc003zol.1	P05000	OTTHUMG00000019656	ENST00000380229.2:c.451C>A	9.37:g.21141119G>T	ENSP00000369578:p.Arg151Ser						p.R151S	NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN		GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	1025	-			151					Q13168|Q5U802|Q5VWD0|Q7M4P5	Missense_Mutation	SNP	ENST00000380229.2	37	c.451C>A	CCDS6496.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.606290	0.28623	.	.	ENSG00000177047	ENST00000380229	T	0.03124	4.04	4.44	-5.11	0.02901	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.357460	0.04432	N	0.369433	T	0.02012	0.0063	N	0.10837	0.055	0.09310	N	1	P	0.38582	0.638	B	0.41088	0.347	T	0.35798	-0.9774	10	0.20519	T	0.43	.	1.0381	0.01553	0.2381:0.1172:0.1844:0.4603	.	151	P05000	IFNW1_HUMAN	S	151	ENSP00000369578:R151S	ENSP00000369578:R151S	R	-	1	0	IFNW1	21131119	0.000000	0.05858	0.000000	0.03702	0.525000	0.34531	-1.339000	0.02652	-0.706000	0.05028	0.460000	0.39030	CGT		0.483	IFNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051885.1	NM_002177		43	36	1	0	3.09479e-21	1	3.47374e-21	43	36				
SPOP	8405	broad.mit.edu	37	17	47696426	47696426	+	Missense_Mutation	SNP	A	A	T			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr17:47696426A>T	ENST00000393328.2	-	6	762	c.397T>A	c.(397-399)Ttc>Atc	p.F133I	SPOP_ENST00000347630.2_Missense_Mutation_p.F133I|SPOP_ENST00000503676.1_Missense_Mutation_p.F133I|SPOP_ENST00000393331.3_Missense_Mutation_p.F133I|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000504102.1_Missense_Mutation_p.F133I	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F133V(4)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AATTTCTTGAATCCCCAGTCT	0.448										Prostate(2;0.17)																												ENST00000393331.3																			4	Substitution - Missense(4)	p.F133V(4)	prostate(4)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)Ttc>Atc		speckle-type POZ protein							119.0	121.0	120.0					17																	47696426		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696426A>T	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.397T>A	17.37:g.47696426A>T	ENSP00000377001:p.Phe133Ile	Prostate(2;0.17)				SPOP_ENST00000393328.2_Missense_Mutation_p.F133I|SPOP_ENST00000503676.1_Missense_Mutation_p.F133I|SPOP_ENST00000347630.2_Missense_Mutation_p.F133I|SPOP_ENST00000504102.1_Missense_Mutation_p.F133I	p.F133I	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	867	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.397T>A	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.932698	0.92458	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.60314	0.2259	M	0.88181	2.935	0.80722	D	1	P	0.41475	0.751	P	0.47206	0.541	T	0.68697	-0.5340	10	0.72032	D	0.01	-9.6576	15.258	0.73599	1.0:0.0:0.0:0.0	.	133	O43791	SPOP_HUMAN	I	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133I;ENSP00000377004:F133I;ENSP00000240327:F133I;ENSP00000425905:F133I;ENSP00000420908:F133I;ENSP00000426986:F133I;ENSP00000420960:F133I;ENSP00000426262:F133I;ENSP00000424119:F133I	ENSP00000240327:F133I	F	-	1	0	SPOP	45051425	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.131000	0.94446	2.261000	0.74972	0.460000	0.39030	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		57	68	0	0	0	1	0	57	68				
SPTBN1	6711	broad.mit.edu	37	2	54882330	54882330	+	Missense_Mutation	SNP	C	C	G			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr2:54882330C>G	ENST00000356805.4	+	28	6227	c.5946C>G	c.(5944-5946)caC>caG	p.H1982Q	SPTBN1_ENST00000333896.5_Missense_Mutation_p.H1969Q	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1982	Interaction with ANK2.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CGAGAAAACACTATGCATCTG	0.403																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(5905-5907)caC>caG		spectrin, beta, non-erythrocytic 1							163.0	125.0	138.0					2																	54882330		2203	4300	6503	SO:0001583	missense	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54882330C>G		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.5946C>G	2.37:g.54882330C>G	ENSP00000349259:p.His1982Gln					SPTBN1_ENST00000356805.4_Missense_Mutation_p.H1982Q	p.H1969Q	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		27	6292	+			1982			Interaction with ANK2.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.5907C>G	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999760	0.93227	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.54675	0.56;0.56	5.48	5.48	0.80851	.	0.052921	0.85682	D	0.000000	T	0.71550	0.3353	M	0.88979	2.995	0.80722	D	1	P;D;P	0.54601	0.94;0.967;0.951	P;B;P	0.51355	0.451;0.35;0.667	T	0.77996	-0.2377	10	0.72032	D	0.01	.	19.7157	0.96119	0.0:1.0:0.0:0.0	.	1982;1969;1982	Q01082-2;Q01082-3;Q01082	.;.;SPTB2_HUMAN	Q	1982;1969	ENSP00000349259:H1982Q;ENSP00000334156:H1969Q	ENSP00000334156:H1969Q	H	+	3	2	SPTBN1	54735834	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.729000	0.84864	2.749000	0.94314	0.655000	0.94253	CAC		0.403	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			13	20	0	0	0	1	0	13	20				
CDH12	1010	broad.mit.edu	37	5	21975394	21975394	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr5:21975394A>G	ENST00000382254.1	-	6	1418	c.332T>C	c.(331-333)aTt>aCt	p.I111T	CDH12_ENST00000504376.2_Missense_Mutation_p.I111T|CDH12_ENST00000522262.1_Missense_Mutation_p.I111T	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	111	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TATTGCATGAATGTCCCCTGT	0.493										HNSCC(59;0.17)																												ENST00000382254.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(331-333)aTt>aCt		cadherin 12, type 2 (N-cadherin 2)							64.0	63.0	64.0					5																	21975394		2044	3866	5910	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21975394A>G	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.332T>C	5.37:g.21975394A>G	ENSP00000371689:p.Ile111Thr	HNSCC(59;0.17)				CDH12_ENST00000504376.2_Missense_Mutation_p.I111T|CDH12_ENST00000522262.1_Missense_Mutation_p.I111T	p.I111T	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			6	1418	-			111			Cadherin 1.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.332T>C	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	A	19.65	3.867256	0.72065	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.61510	0.1;0.1;0.1	5.16	5.16	0.70880	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.85622	0.5739	H	0.98786	4.33	0.58432	D	0.999996	D;D	0.76494	0.999;0.997	D;D	0.97110	0.998;1.0	D	0.91517	0.5231	10	0.87932	D	0	.	14.9747	0.71261	1.0:0.0:0.0:0.0	.	111;111	B7Z2U6;P55289	.;CAD12_HUMAN	T	111	ENSP00000423577:I111T;ENSP00000371689:I111T;ENSP00000428786:I111T	ENSP00000371689:I111T	I	-	2	0	CDH12	22011151	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	8.850000	0.92190	1.954000	0.56735	0.397000	0.26171	ATT		0.493	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		8	80	0	0	0	1	0	8	80				
DUS3L	56931	broad.mit.edu	37	19	5789637	5789637	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr19:5789637G>A	ENST00000309061.7	-	3	577	c.481C>T	c.(481-483)Cgc>Tgc	p.R161C	DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	161							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						AGCACGCAGCGGGGGCCCAGG	0.682																																						ENST00000309061.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						c.(481-483)Cgc>Tgc		dihydrouridine synthase 3-like (S. cerevisiae)							9.0	16.0	13.0					19																	5789637		2126	4239	6365	SO:0001583	missense	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5789637G>A		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.481C>T	19.37:g.5789637G>A	ENSP00000311977:p.Arg161Cys					DUS3L_ENST00000590681.1_5'UTR|DUS3L_ENST00000320699.8_Intron	p.R161C	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN			3	577	-			161					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	37	c.481C>T	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.829882	0.32329	.	.	ENSG00000141994	ENST00000309061	T	0.18502	2.21	4.72	-2.11	0.07187	Zinc finger, CCCH-type (1);	0.578882	0.17583	N	0.169047	T	0.11024	0.0269	L	0.39898	1.24	0.24361	N	0.994876	B	0.12013	0.005	B	0.11329	0.006	T	0.17623	-1.0363	10	0.56958	D	0.05	-29.1506	4.8683	0.13620	0.2183:0.0:0.2134:0.5682	.	161	Q96G46	DUS3L_HUMAN	C	161	ENSP00000311977:R161C	ENSP00000311977:R161C	R	-	1	0	DUS3L	5740637	0.000000	0.05858	0.978000	0.43139	0.407000	0.30961	-0.067000	0.11579	-0.253000	0.09514	0.491000	0.48974	CGC		0.682	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		7	7	0	0	0	1	0	7	7				
KDM4A	9682	broad.mit.edu	37	1	44163650	44163650	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr1:44163650C>T	ENST00000372396.3	+	19	2941	c.2807C>T	c.(2806-2808)tCc>tTc	p.S936F	KDM4A-AS1_ENST00000439057.1_RNA|KDM4A-AS1_ENST00000398804.3_RNA	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	936	Tudor 1.				cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GATGATGGCTCCTTCAGCGAC	0.483																																						ENST00000372396.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(2806-2808)tCc>tTc		lysine (K)-specific demethylase 4A							120.0	116.0	118.0					1																	44163650		2203	4300	6503	SO:0001583	missense	9682				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr1:44163650C>T	AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.2807C>T	1.37:g.44163650C>T	ENSP00000361473:p.Ser936Phe						p.S936F	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN			19	2941	+			936			Tudor 1.		Q5VVB1	Missense_Mutation	SNP	ENST00000372396.3	37	c.2807C>T	CCDS491.1	.	.	.	.	.	.	.	.	.	.	C	34	5.334399	0.95758	.	.	ENSG00000066135	ENST00000372396	T	0.73897	-0.79	6.08	6.08	0.98989	Tudor domain (1);	0.000000	0.85682	D	0.000000	D	0.88358	0.6415	M	0.83953	2.67	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.88464	0.3057	10	0.87932	D	0	-23.5429	20.6634	0.99662	0.0:1.0:0.0:0.0	.	936	O75164	KDM4A_HUMAN	F	936	ENSP00000361473:S936F	ENSP00000361473:S936F	S	+	2	0	KDM4A	43936237	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.894000	0.99253	0.655000	0.94253	TCC		0.483	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663		35	27	0	0	0	1	0	35	27				
RPA4	29935	broad.mit.edu	37	X	96140003	96140003	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chrX:96140003G>A	ENST00000373040.3	+	1	1097	c.694G>A	c.(694-696)Gtc>Atc	p.V232I	DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000373054.4_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	232					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						CGACCTTAGCGTCAAGGCCAT	0.517								Other identified genes with known or suspected DNA repair function																														ENST00000373040.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						c.(694-696)Gtc>Atc	Other identified genes with known or suspected DNA repair function	replication protein A4, 30kDa							108.0	92.0	98.0					X																	96140003		2203	4300	6503	SO:0001583	missense	29935				DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding	g.chrX:96140003G>A	U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"""replication protein A4, 34kDa"""			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.694G>A	X.37:g.96140003G>A	ENSP00000362131:p.Val232Ile					DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373061.3_Intron	p.V232I	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN			1	1097	+			232					Q3SY03	Missense_Mutation	SNP	ENST00000373040.3	37	c.694G>A	CCDS35345.1	.	.	.	.	.	.	.	.	.	.	G	1.812	-0.474379	0.04414	.	.	ENSG00000204086	ENST00000373040	T	0.48522	0.81	3.29	-6.59	0.01830	Winged helix-turn-helix transcription repressor DNA-binding (1);Replication protein A, C-terminal (1);	.	.	.	.	T	0.27967	0.0689	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24333	-1.0163	9	0.18276	T	0.48	-5.588	10.483	0.44704	0.1868:0.1414:0.6718:0.0	.	232	Q13156	RFA4_HUMAN	I	232	ENSP00000362131:V232I	ENSP00000362131:V232I	V	+	1	0	RPA4	96026659	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.533000	0.06157	-2.064000	0.00888	-2.474000	0.00201	GTC		0.517	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057464.1	NM_013347		53	6	0	0	0	1	0	53	6				
UCKL1	54963	broad.mit.edu	37	20	62572025	62572025	+	Silent	SNP	G	G	A	rs370105526		TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr20:62572025G>A	ENST00000354216.6	-	12	1266	c.1224C>T	c.(1222-1224)ccC>ccT	p.P408P	MIR647_ENST00000384823.1_RNA|UCKL1_ENST00000369908.5_Silent_p.P393P|UCKL1_ENST00000358711.3_3'UTR|UCKL1_ENST00000369892.3_Silent_p.P408P|MIR1914_ENST00000607800.1_RNA	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	408					CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CGCGCAGCGCGGGCTCCATGG	0.697																																						ENST00000369908.5																			0				endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(1177-1179)ccC>ccT		uridine-cytidine kinase 1-like 1		G	,	0,4354		0,0,2177	21.0	23.0	23.0		1179,1224	-10.1	0.0	20		23	1,8567		0,1,4283	no	coding-synonymous,coding-synonymous	UCKL1	NM_001193379.1,NM_017859.3	,	0,1,6460	AA,AG,GG		0.0117,0.0,0.0077	,	393/534,408/549	62572025	1,12921	2177	4284	6461	SO:0001819	synonymous_variant	54963				interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity	g.chr20:62572025G>A	AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"""uridine kinase-like 1"""	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.1224C>T	20.37:g.62572025G>A						UCKL1_ENST00000369892.3_Silent_p.P408P|UCKL1_ENST00000358711.3_3'UTR|UCKL1_ENST00000354216.6_Silent_p.P408P	p.P393P	NM_001193379.1	NP_001180308.1	Q9NWZ5	UCKL1_HUMAN			12	1478	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		408					B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Silent	SNP	ENST00000354216.6	37	c.1179C>T	CCDS13547.1																																																																																				0.697	UCKL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080236.1	NM_017859		12	16	0	0	0	1	0	12	16				
RCOR2	283248	broad.mit.edu	37	11	63679992	63679992	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr11:63679992C>T	ENST00000301459.4	-	11	1429	c.1042G>A	c.(1042-1044)Ggc>Agc	p.G348S	RCOR2_ENST00000473926.2_5'Flank	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	348	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.Y347fs*39(1)		kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						AAGTCTTTGCCATACCTACGG	0.547																																						ENST00000301459.4																			1	Deletion - Frameshift(1)	p.Y347fs*39(1)	liver(1)	kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						c.(1042-1044)Ggc>Agc		REST corepressor 2							66.0	77.0	74.0					11																	63679992		2201	4297	6498	SO:0001583	missense	283248				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr11:63679992C>T	BC010608	CCDS8052.1	11q13.1	2008-02-05			ENSG00000167771	ENSG00000167771			27455	protein-coding gene	gene with protein product						12477932	Standard	NM_173587		Approved		uc001nyc.3	Q8IZ40	OTTHUMG00000150472	ENST00000301459.4:c.1042G>A	11.37:g.63679992C>T	ENSP00000301459:p.Gly348Ser						p.G348S	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN			11	1429	-			348			SANT 2.		Q96FP3	Missense_Mutation	SNP	ENST00000301459.4	37	c.1042G>A	CCDS8052.1	.	.	.	.	.	.	.	.	.	.	C	32	5.156644	0.94686	.	.	ENSG00000167771	ENST00000301459	T	0.69926	-0.44	4.55	4.55	0.56014	Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.85682	D	0.000000	D	0.83709	0.5313	M	0.93283	3.4	0.58432	D	0.999999	D	0.65815	0.995	P	0.57283	0.817	D	0.88664	0.3191	10	0.87932	D	0	.	16.6282	0.84992	0.0:1.0:0.0:0.0	.	348	Q8IZ40	RCOR2_HUMAN	S	348	ENSP00000301459:G348S	ENSP00000301459:G348S	G	-	1	0	RCOR2	63436568	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.314000	0.78988	2.536000	0.85505	0.561000	0.74099	GGC		0.547	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318233.1	NM_173587		54	60	0	0	0	1	0	54	60				
BCAS4	55653	broad.mit.edu	37	20	49446884	49446884	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr20:49446884G>A	ENST00000358791.5	+	3	421	c.321G>A	c.(319-321)atG>atA	p.M107I	BCAS4_ENST00000371608.2_Missense_Mutation_p.M107I|BCAS4_ENST00000485049.1_3'UTR|BCAS4_ENST00000609336.1_Missense_Mutation_p.M77I|BCAS4_ENST00000262591.5_Missense_Mutation_p.M107I	NM_017843.3	NP_060313.3	Q8TDM0	BCAS4_HUMAN	breast carcinoma amplified sequence 4	107						cytoplasm (GO:0005737)				large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						TGACAGAAATGCGTGGCATCT	0.488																																						ENST00000358791.5																			0				large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						c.(319-321)atG>atA		breast carcinoma amplified sequence 4							159.0	126.0	137.0					20																	49446884		2203	4300	6503	SO:0001583	missense	55653					cytoplasm		g.chr20:49446884G>A	AK000502	CCDS13432.2, CCDS33487.1	20q13	2008-07-03			ENSG00000124243	ENSG00000124243			14367	protein-coding gene	gene with protein product		607471				12378525	Standard	NM_001010974		Approved	FLJ20495, CNOL	uc002xvq.3	Q8TDM0	OTTHUMG00000032735	ENST00000358791.5:c.321G>A	20.37:g.49446884G>A	ENSP00000351642:p.Met107Ile					BCAS4_ENST00000371608.2_Missense_Mutation_p.M107I|BCAS4_ENST00000485049.1_3'UTR|BCAS4_ENST00000262591.5_Missense_Mutation_p.M107I	p.M107I	NM_017843.3	NP_060313.3	Q8TDM0	BCAS4_HUMAN			3	421	+			107					Q5TD52|Q5TD53|Q5TD54|Q5U5K7|Q5XKE8|Q8IXI7|Q8NEZ6|Q8TDL9|Q9NX13|Q9Y511	Missense_Mutation	SNP	ENST00000358791.5	37	c.321G>A	CCDS33487.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.91|13.91	2.378392|2.378392	0.42207|0.42207	.|.	.|.	ENSG00000124243|ENSG00000124243	ENST00000445038|ENST00000358791;ENST00000262591;ENST00000355583;ENST00000371608	.|T;T;T	.|0.54071	.|1.53;0.59;0.64	5.52|5.52	2.36|2.36	0.29203|0.29203	.|.	.|0.090369	.|0.64402	.|N	.|0.000001	T|T	0.43942|0.43942	0.1270|0.1270	M|M	0.62266|0.62266	1.93|1.93	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.24721	.|0.019;0.017;0.11;0.002	.|B;B;B;B	.|0.20384	.|0.015;0.011;0.029;0.004	T|T	0.43893|0.43893	-0.9363|-0.9363	5|10	.|0.66056	.|D	.|0.02	-10.5091|-10.5091	4.6111|4.6111	0.12402|0.12402	0.0834:0.1505:0.6104:0.1557|0.0834:0.1505:0.6104:0.1557	.|.	.|107;107;107;107	.|Q8TDM0-2;Q8TDM0-3;Q8TDM0;F8WE92	.|.;.;BCAS4_HUMAN;.	Y|I	82|107	.|ENSP00000351642:M107I;ENSP00000262591:M107I;ENSP00000360669:M107I	.|ENSP00000262591:M107I	C|M	+|+	2|3	0|0	BCAS4|BCAS4	48880291|48880291	1.000000|1.000000	0.71417|0.71417	0.018000|0.018000	0.16275|0.16275	0.402000|0.402000	0.30811|0.30811	1.554000|1.554000	0.36266|0.36266	0.242000|0.242000	0.21303|0.21303	-0.182000|-0.182000	0.12963|0.12963	TGC|ATG		0.488	BCAS4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079700.1	NM_017843		35	37	0	0	0	1	0	35	37				
IRF9	10379	broad.mit.edu	37	14	24632648	24632648	+	Silent	SNP	G	G	A			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr14:24632648G>A	ENST00000396864.3	+	4	713	c.426G>A	c.(424-426)agG>agA	p.R142R	IRF9_ENST00000557894.1_Silent_p.R40R|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	142					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R142S(1)		NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		CCTCTGAGAGGAAGGAGGAAG	0.532																																						ENST00000396864.3																			1	Substitution - Missense(1)	p.R142S(1)	ovary(1)	NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						c.(424-426)agG>agA		interferon regulatory factor 9							172.0	160.0	164.0					14																	24632648		2203	4300	6503	SO:0001819	synonymous_variant	10379				interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr14:24632648G>A	M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"""interferon-stimulated transcription factor 3, gamma (48kD)"", ""interferon-stimulated transcription factor 3, gamma 48kDa"""	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.426G>A	14.37:g.24632648G>A						RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Silent_p.R40R	p.R142R	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN		GBM - Glioblastoma multiforme(265;0.00853)	4	713	+			142					D3DS61	Silent	SNP	ENST00000396864.3	37	c.426G>A	CCDS9615.1																																																																																				0.532	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2			86	114	0	0	0	1	0	86	114				
MYOT	9499	broad.mit.edu	37	5	137219176	137219176	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr5:137219176C>T	ENST00000239926.4	+	7	1294	c.920C>T	c.(919-921)tCa>tTa	p.S307L	MYOT_ENST00000421631.2_Missense_Mutation_p.S123L|RP11-381K20.2_ENST00000508281.2_RNA|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000509812.1_Intron|MYOT_ENST00000515645.1_Missense_Mutation_p.S192L	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	307	Ig-like C2-type 1.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGTCTTCATTCACTCATCTTT	0.453																																						ENST00000239926.4																			0				cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(919-921)tCa>tTa		myotilin							122.0	113.0	116.0					5																	137219176		2203	4300	6503	SO:0001583	missense	9499				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle	g.chr5:137219176C>T	AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"""Immunoglobulin superfamily / I-set domain containing"""	12399	protein-coding gene	gene with protein product		604103	"""titin immunoglobulin domain protein (myotilin)"", ""limb-girdle muscular dystrophy 1A (autosomal dominant)"""	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.920C>T	5.37:g.137219176C>T	ENSP00000239926:p.Ser307Leu					MYOT_ENST00000509812.1_Intron|MYOT_ENST00000421631.2_Missense_Mutation_p.S123L|MYOT_ENST00000515645.1_Missense_Mutation_p.S192L|RP11-381K20.2_ENST00000508281.2_RNA|RP11-381K20.2_ENST00000514616.1_RNA	p.S307L	NM_006790.2	NP_006781.1	Q9UBF9	MYOTI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		7	1294	+			307			Ig-like C2-type 1.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.		A0A4R6|B4DT79	Missense_Mutation	SNP	ENST00000239926.4	37	c.920C>T	CCDS4194.1	.	.	.	.	.	.	.	.	.	.	C	34	5.376074	0.95923	.	.	ENSG00000120729	ENST00000239926;ENST00000421631;ENST00000515645	T;T;T	0.68903	-0.36;-0.36;-0.36	5.08	5.08	0.68730	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000063	D	0.82328	0.5013	M	0.74546	2.27	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84529	0.0632	10	0.87932	D	0	.	18.8467	0.92210	0.0:1.0:0.0:0.0	.	307	Q9UBF9	MYOTI_HUMAN	L	307;123;192	ENSP00000239926:S307L;ENSP00000391185:S123L;ENSP00000426281:S192L	ENSP00000239926:S307L	S	+	2	0	MYOT	137247075	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.497000	0.84241	0.655000	0.94253	TCA		0.453	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2	NM_006790		31	55	0	0	0	1	0	31	55				
BAMBI	25805	broad.mit.edu	37	10	28970265	28970265	+	Missense_Mutation	SNP	T	T	A			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr10:28970265T>A	ENST00000375533.3	+	2	711	c.155T>A	c.(154-156)tTc>tAc	p.F52Y		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	52					cell migration (GO:0016477)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell shape (GO:0008360)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|type II transforming growth factor beta receptor binding (GO:0005114)			central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						AGCGCCTGCTTCTCTAGACTT	0.498																																						ENST00000375533.3																			0				central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						c.(154-156)tTc>tAc		BMP and activin membrane-bound inhibitor							120.0	110.0	113.0					10																	28970265		2203	4300	6503	SO:0001583	missense	25805				cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding	g.chr10:28970265T>A	U23070	CCDS7162.1	10p12.3-p11.2	2013-07-23	2013-07-23		ENSG00000095739	ENSG00000095739			30251	protein-coding gene	gene with protein product		604444	"""BMP and activin membrane-bound inhibitor homolog (Xenopus laevis)"""			8621228, 19758997	Standard	NM_012342		Approved	NMA	uc001iuj.1	Q13145	OTTHUMG00000017874	ENST00000375533.3:c.155T>A	10.37:g.28970265T>A	ENSP00000364683:p.Phe52Tyr						p.F52Y	NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN			2	711	+			52						Missense_Mutation	SNP	ENST00000375533.3	37	c.155T>A	CCDS7162.1	.	.	.	.	.	.	.	.	.	.	T	18.87	3.714576	0.68730	.	.	ENSG00000095739	ENST00000375533;ENST00000542444	D	0.90504	-2.68	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.92861	0.7729	L	0.43152	1.355	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.995;0.997	D	0.91342	0.5098	10	0.26408	T	0.33	.	15.8715	0.79122	0.0:0.0:0.0:1.0	.	52;52	Q13145;Q53G66	BAMBI_HUMAN;.	Y	52	ENSP00000364683:F52Y	ENSP00000364683:F52Y	F	+	2	0	BAMBI	29010271	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.990000	0.88215	2.155000	0.67459	0.533000	0.62120	TTC		0.498	BAMBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047374.1	NM_012342		37	45	0	0	0	1	0	37	45				
GAS2L2	246176	broad.mit.edu	37	17	34072175	34072175	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr17:34072175G>A	ENST00000254466.6	-	6	2368	c.2341C>T	c.(2341-2343)Cgg>Tgg	p.R781W	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R765W	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	781					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTCCGGGGCCGAATCCTGGGT	0.612																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(2341-2343)Cgg>Tgg		growth arrest-specific 2 like 2							87.0	93.0	91.0					17																	34072175		2203	4300	6503	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34072175G>A	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.2341C>T	17.37:g.34072175G>A	ENSP00000254466:p.Arg781Trp					GAS2L2_ENST00000587565.1_Missense_Mutation_p.R765W	p.R781W	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	2368	-		Ovarian(249;0.17)	781					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.2341C>T	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286617	0.80803	.	.	ENSG00000132139	ENST00000254466	T	0.56444	0.46	4.69	4.69	0.59074	.	0.287526	0.29106	N	0.013135	T	0.63426	0.2510	L	0.36672	1.1	0.42855	D	0.994094	D	0.89917	1.0	D	0.70016	0.967	T	0.67635	-0.5620	10	0.87932	D	0	-20.3668	16.3676	0.83341	0.0:0.0:1.0:0.0	.	781	Q8NHY3	GA2L2_HUMAN	W	781	ENSP00000254466:R781W	ENSP00000254466:R781W	R	-	1	2	GAS2L2	31096288	1.000000	0.71417	0.959000	0.39883	0.985000	0.73830	4.659000	0.61504	2.460000	0.83146	0.561000	0.74099	CGG		0.612	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		4	139	0	0	0	1	0	4	139				
DNAH17	8632	broad.mit.edu	37	17	76472714	76472714	+	Silent	SNP	G	G	A	rs189793617	byFrequency	TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr17:76472714G>A	ENST00000585328.1	-	52	8203	c.8079C>T	c.(8077-8079)gaC>gaT	p.D2693D	DNAH17_ENST00000389840.5_Silent_p.D2684D|DNAH17_ENST00000586052.1_Intron	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2684					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D2693D(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGTCTTTTTCGTCAACCATTT	0.488													G|||	2	0.000399361	0.0	0.0029	5008	,	,		20875	0.0		0.0	False		,,,				2504	0.0					ENST00000389840.5																			1	Substitution - coding silent(1)	p.D2693D(1)	central_nervous_system(1)	NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(8050-8052)gaC>gaT		dynein, axonemal, heavy chain 17							158.0	179.0	172.0					17																	76472714		2015	4178	6193	SO:0001819	synonymous_variant	8632							g.chr17:76472714G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.8079C>T	17.37:g.76472714G>A						DNAH17_ENST00000585328.1_Silent_p.D2693D|DNAH17_ENST00000586052.1_Intron	p.D2684D					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		52	8176	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.8052C>T																																																																																					0.488	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		11	12	0	0	0	1	0	11	12				
ARL1	400	broad.mit.edu	37	12	101794883	101794883	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr12:101794883T>C	ENST00000261636.8	-	4	467	c.293A>G	c.(292-294)gAc>gGc	p.D98G	ARL1_ENST00000551688.1_Intron|ARL1_ENST00000551828.1_Missense_Mutation_p.D81G|ARL1_ENST00000536227.1_Missense_Mutation_p.D81G|ARL1_ENST00000549302.1_5'Flank|ARL1_ENST00000539055.1_Missense_Mutation_p.D52G|ARL1_ENST00000551671.1_Missense_Mutation_p.D98G	NM_001177.4	NP_001168.1	P40616	ARL1_HUMAN	ADP-ribosylation factor-like 1	98					activation of phospholipase D activity (GO:0031584)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|GTP catabolic process (GO:0006184)|protein localization to Golgi apparatus (GO:0034067)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)|toxin metabolic process (GO:0009404)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	enzyme activator activity (GO:0008047)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			central_nervous_system(1)|upper_aerodigestive_tract(1)	2		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)		GCCAATTCGGTCTCGGTCACA	0.373																																						ENST00000261636.8																			0				central_nervous_system(1)|upper_aerodigestive_tract(1)	2						c.(292-294)gAc>gGc		ADP-ribosylation factor-like 1							133.0	125.0	127.0					12																	101794883		1875	4106	5981	SO:0001583	missense	400				small GTPase mediated signal transduction	Golgi membrane	enzyme activator activity|GTP binding|GTPase activity|metal ion binding|protein binding	g.chr12:101794883T>C	BX537387	CCDS44958.1, CCDS73510.1	12q23.3	2014-05-09						"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	692	protein-coding gene	gene with protein product		603425					Standard	XM_005268869		Approved	ARFL1	uc001tib.3	P40616	OTTHUMG00000170271	ENST00000261636.8:c.293A>G	12.37:g.101794883T>C	ENSP00000261636:p.Asp98Gly					ARL1_ENST00000536227.1_Missense_Mutation_p.D81G|ARL1_ENST00000551688.1_Intron|ARL1_ENST00000551828.1_Missense_Mutation_p.D81G|ARL1_ENST00000551671.1_Missense_Mutation_p.D98G|ARL1_ENST00000539055.1_Missense_Mutation_p.D52G	p.D98G	NM_001177.4	NP_001168.1	P40616	ARL1_HUMAN		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)	4	467	-		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)	98					B4DWW1|P80417|Q53XB1	Missense_Mutation	SNP	ENST00000261636.8	37	c.293A>G	CCDS44958.1	.	.	.	.	.	.	.	.	.	.	T	33	5.254126	0.95336	.	.	ENSG00000120805	ENST00000261636;ENST00000539055;ENST00000536227;ENST00000551828;ENST00000551671	D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61	5.55	5.55	0.83447	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85885	0.5801	M	0.79693	2.465	0.80722	D	1	B;B;B	0.22414	0.038;0.056;0.069	B;B;B	0.31946	0.138;0.098;0.113	D	0.84783	0.0774	10	0.87932	D	0	-25.031	15.8689	0.79091	0.0:0.0:0.0:1.0	.	52;98;98	B4DZG7;F8VYN9;P40616	.;.;ARL1_HUMAN	G	98;52;81;81;98	ENSP00000261636:D98G;ENSP00000439590:D52G;ENSP00000441808:D81G;ENSP00000448850:D81G;ENSP00000448912:D98G	ENSP00000261636:D98G	D	-	2	0	ARL1	100319014	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.408000	0.80041	2.333000	0.79357	0.482000	0.46254	GAC		0.373	ARL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408246.1	NM_001177		24	35	0	0	0	1	0	24	35				
NBAS	51594	broad.mit.edu	37	2	15432834	15432834	+	Silent	SNP	G	G	A	rs371291813		TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr2:15432834G>A	ENST00000281513.5	-	41	4879	c.4854C>T	c.(4852-4854)caC>caT	p.H1618H	NBAS_ENST00000441750.1_Silent_p.H1498H	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1618					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GCCAGGCTTCGTGCTCATGTC	0.463																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(4852-4854)caC>caT		neuroblastoma amplified sequence		G		0,4406		0,0,2203	116.0	101.0	106.0		4854	-11.7	0.0	2		106	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NBAS	NM_015909.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1618/2372	15432834	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51594							g.chr2:15432834G>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.4854C>T	2.37:g.15432834G>A						NBAS_ENST00000441750.1_Silent_p.H1498H	p.H1618H	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			41	4879	-			1618					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	c.4854C>T	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.609704	0.00842	0.0	1.16E-4	ENSG00000151779	ENST00000442506	.	.	.	5.84	-11.7	0.00046	.	.	.	.	.	T	0.24967	0.0606	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.54275	-0.8318	4	.	.	.	.	8.8841	0.35392	0.458:0.2953:0.1972:0.0496	.	.	.	.	M	666	.	.	T	-	2	0	NBAS	15350285	0.000000	0.05858	0.000000	0.03702	0.143000	0.21401	-5.181000	0.00144	-6.743000	0.00002	-2.426000	0.00216	ACG		0.463	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		26	37	0	0	0	1	0	26	37				
POC5	134359	broad.mit.edu	37	5	74973609	74973609	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr5:74973609G>A	ENST00000428202.2	-	11	1763	c.1574C>T	c.(1573-1575)cCa>cTa	p.P525L	POC5_ENST00000510798.1_Intron|POC5_ENST00000380475.2_Intron|POC5_ENST00000446329.2_Missense_Mutation_p.P500L|POC5_ENST00000514838.2_Missense_Mutation_p.P497L	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	525					cell cycle (GO:0007049)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CACTGTGACTGGATGATGTTT	0.373																																						ENST00000428202.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1573-1575)cCa>cTa		POC5 centriolar protein							106.0	96.0	99.0					5																	74973609		1878	4105	5983	SO:0001583	missense	134359				cell cycle	centriole		g.chr5:74973609G>A	AK093098	CCDS47236.1, CCDS47237.1	5q13.3	2013-08-05	2013-08-05	2010-03-26	ENSG00000152359	ENSG00000152359			26658	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 37"", ""POC5 centriolar protein homolog (Chlamydomonas)"""	C5orf37		19349582	Standard	NM_152408		Approved	FLJ35779, MGC120442, MGC120443, MGC120444, hPOC5	uc003keh.4	Q8NA72	OTTHUMG00000162487	ENST00000428202.2:c.1574C>T	5.37:g.74973609G>A	ENSP00000410216:p.Pro525Leu					POC5_ENST00000380475.2_Intron|POC5_ENST00000446329.2_Missense_Mutation_p.P500L|POC5_ENST00000510798.1_Intron|POC5_ENST00000514838.2_Missense_Mutation_p.P497L	p.P525L	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN			11	1763	-			525					B4DJG7|Q494X7|Q494X9|Q6P085	Missense_Mutation	SNP	ENST00000428202.2	37	c.1574C>T	CCDS47236.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635254	0.87760	.	.	ENSG00000152359	ENST00000428202;ENST00000514838;ENST00000446329	T;T;T	0.75589	-0.75;-0.95;-0.85	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.87485	0.6189	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87713	0.2568	10	0.87932	D	0	-19.87	20.3213	0.98679	0.0:0.0:1.0:0.0	.	525;500	Q8NA72;Q8NA72-3	POC5_HUMAN;.	L	525;497;500	ENSP00000410216:P525L;ENSP00000420971:P497L;ENSP00000399481:P500L	ENSP00000410216:P525L	P	-	2	0	POC5	75009365	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.337000	0.79256	2.810000	0.96702	0.650000	0.86243	CCA		0.373	POC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369124.1	NM_152408		4	38	0	0	0	1	0	4	38				
DNAJC24	120526	broad.mit.edu	37	11	31436377	31436377	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr11:31436377G>T	ENST00000465995.1	+	3	237	c.131G>T	c.(130-132)aGt>aTt	p.S44I	DNAJC24_ENST00000536040.1_Missense_Mutation_p.S43I	NM_181706.4	NP_859057.4	Q6P3W2	DJC24_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 24	43	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				chaperone-mediated protein folding (GO:0061077)|oxidation-reduction process (GO:0055114)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|positive regulation of ATPase activity (GO:0032781)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATPase activator activity (GO:0001671)|ferrous iron binding (GO:0008198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|skin(1)|upper_aerodigestive_tract(2)	11						GATAAACAAAGTACAGATGTA	0.398																																						ENST00000536040.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|skin(1)|upper_aerodigestive_tract(2)	11						c.(127-129)aGt>aTt		DnaJ (Hsp40) homolog, subfamily C, member 24							98.0	96.0	97.0					11																	31436377		1920	4132	6052	SO:0001583	missense	120526				protein folding		heat shock protein binding|metal ion binding|unfolded protein binding	g.chr11:31436377G>T	AL833128	CCDS7873.2	11p14.1	2011-09-02	2008-07-03	2008-07-03	ENSG00000170946	ENSG00000170946		"""Heat shock proteins / DNAJ (HSP40)"""	26979	protein-coding gene	gene with protein product		611072	"""zinc finger, CSL-type containing 3"", ""DPH4 homolog (JJJ3, S. cerevisiae)"", ""DPH4, JJJ3 homolog (S. cerevisiae)"""	ZCSL3, DPH4		15485916	Standard	NM_181706		Approved	JJJ3	uc001msx.3	Q6P3W2	OTTHUMG00000133712	ENST00000465995.1:c.131G>T	11.37:g.31436377G>T	ENSP00000417548:p.Ser44Ile					DNAJC24_ENST00000465995.1_Missense_Mutation_p.S44I	p.S43I			Q6P3W2	DJC24_HUMAN			3	220	+			43			J.		A8K0V0|B1ALC1|I6L9B4	Missense_Mutation	SNP	ENST00000465995.1	37	c.128G>T	CCDS7873.2	.	.	.	.	.	.	.	.	.	.	G	10.56	1.383753	0.25031	.	.	ENSG00000170946	ENST00000465995;ENST00000536040	T;T	0.32023	1.47;1.47	6.17	5.26	0.73747	Heat shock protein DnaJ, N-terminal (5);	0.327433	0.39909	N	0.001226	T	0.33030	0.0849	L	0.33668	1.02	0.36974	D	0.893959	D;P	0.67145	0.996;0.897	P;P	0.51516	0.672;0.543	T	0.34329	-0.9833	10	0.49607	T	0.09	.	12.0958	0.53755	0.1469:0.0:0.8531:0.0	.	43;44	Q6P3W2;D3DQZ6	DJC24_HUMAN;.	I	44;43	ENSP00000417548:S44I;ENSP00000444967:S43I	ENSP00000417548:S44I	S	+	2	0	DNAJC24	31392953	1.000000	0.71417	0.827000	0.32855	0.086000	0.17979	3.169000	0.50809	1.621000	0.50320	0.655000	0.94253	AGT		0.398	DNAJC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258011.3	NM_181706		9	68	1	0	7.48243e-07	1	7.91411e-07	9	68				
ECI1	1632	broad.mit.edu	37	16	2293366	2293366	+	Silent	SNP	G	G	A			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr16:2293366G>A	ENST00000301729.4	-	5	563	c.516C>T	c.(514-516)taC>taT	p.Y172Y	ECI1_ENST00000562238.1_Intron|ECI1_ENST00000570258.1_Silent_p.Y113Y|RP11-304L19.11_ENST00000565709.1_RNA	NM_001919.3	NP_001910.2	P42126	ECI1_HUMAN	enoyl-CoA delta isomerase 1	172					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|intramolecular oxidoreductase activity (GO:0016860)			endometrium(1)|large_intestine(2)|lung(6)	9						GTCCTATGCAGTACCTGGGGT	0.647																																						ENST00000301729.4																			0				endometrium(1)|large_intestine(2)|lung(6)	9						c.(514-516)taC>taT		enoyl-CoA delta isomerase 1							111.0	95.0	100.0					16																	2293366		2198	4300	6498	SO:0001819	synonymous_variant	1632				fatty acid beta-oxidation	mitochondrial matrix	dodecenoyl-CoA delta-isomerase activity	g.chr16:2293366G>A		CCDS10464.1, CCDS58410.1	16p13.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000167969	ENSG00000167969	5.3.3.8		2703	protein-coding gene	gene with protein product	"""3,2 trans-enoyl-CoA isomerase"""	600305	"""dodecenoyl-Coenzyme A delta isomerase (3,2 trans-enoyl-Coenzyme A isomerase)"", ""dodecenoyl-CoA isomerase"""	DCI		7829074	Standard	NM_001178029		Approved		uc002cpr.3	P42126	OTTHUMG00000128830	ENST00000301729.4:c.516C>T	16.37:g.2293366G>A						ECI1_ENST00000562238.1_Intron|ECI1_ENST00000570258.1_Silent_p.Y113Y	p.Y172Y	NM_001919.3	NP_001910.2	P42126	ECI1_HUMAN			5	563	-			172					A8K512|Q13290|Q7Z2L6|Q7Z2L7|Q9BUB8|Q9BW05|Q9UDG6	Silent	SNP	ENST00000301729.4	37	c.516C>T	CCDS10464.1																																																																																				0.647	ECI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250768.1			76	68	0	0	0	1	0	76	68				
RXFP3	51289	broad.mit.edu	37	5	33937288	33937288	+	Nonsense_Mutation	SNP	G	G	A			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr5:33937288G>A	ENST00000330120.3	+	1	798	c.443G>A	c.(442-444)tGg>tAg	p.W148*		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	148					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GACTTCAAATGGCCCTTCGGC	0.552																																						ENST00000330120.3																			0				endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						c.(442-444)tGg>tAg		relaxin/insulin-like family peptide receptor 3							137.0	122.0	127.0					5																	33937288		2203	4300	6503	SO:0001587	stop_gained	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33937288G>A	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.443G>A	5.37:g.33937288G>A	ENSP00000328708:p.Trp148*						p.W148*	NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN			1	798	+			148					Q14DA5	Nonsense_Mutation	SNP	ENST00000330120.3	37	c.443G>A	CCDS3900.1	.	.	.	.	.	.	.	.	.	.	G	40	8.317153	0.98757	.	.	ENSG00000182631	ENST00000330120	.	.	.	5.72	5.72	0.89469	.	0.058165	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.3074	19.8764	0.96873	0.0:0.0:1.0:0.0	.	.	.	.	X	148	.	ENSP00000328708:W148X	W	+	2	0	RXFP3	33973045	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.816000	0.99350	2.700000	0.92200	0.650000	0.86243	TGG		0.552	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		63	63	0	0	0	1	0	63	63				
AKAP4	8852	broad.mit.edu	37	X	49955714	49955714	+	Silent	SNP	T	T	A			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chrX:49955714T>A	ENST00000376056.2	-	6	2577	c.2427A>T	c.(2425-2427)gtA>gtT	p.V809V	AKAP4_ENST00000358526.2_Silent_p.V818V|AKAP4_ENST00000376058.2_Silent_p.V435V|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Silent_p.V809V					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GAAGACCTCCTACACTGTACC	0.512																																						ENST00000376056.2																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41						c.(2425-2427)gtA>gtT		A kinase (PRKA) anchor protein 4							224.0	182.0	196.0					X																	49955714		2203	4300	6503	SO:0001819	synonymous_variant	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49955714T>A	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.2427A>T	X.37:g.49955714T>A						AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Silent_p.V809V|AKAP4_ENST00000358526.2_Silent_p.V818V|AKAP4_ENST00000376058.2_Silent_p.V435V	p.V809V			Q5JQC9	AKAP4_HUMAN			6	2577	-	Ovarian(276;0.236)		818						Silent	SNP	ENST00000376056.2	37	c.2427A>T	CCDS14330.1																																																																																				0.512	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		50	10	0	0	0	1	0	50	10				
ELN	2006	broad.mit.edu	37	7	73475451	73475451	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr7:73475451G>A	ENST00000252034.7	+	26	2167	c.1768G>A	c.(1768-1770)Gct>Act	p.A590T	ELN_ENST00000445912.1_Missense_Mutation_p.A590T|ELN_ENST00000380562.4_Missense_Mutation_p.A596T|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000320399.6_Missense_Mutation_p.A623T|ELN_ENST00000380584.4_Missense_Mutation_p.A542T|ELN_ENST00000414324.1_Missense_Mutation_p.A566T|ELN_ENST00000380553.4_Missense_Mutation_p.A454T|ELN_ENST00000358929.4_Missense_Mutation_p.A658T|ELN_ENST00000429192.1_Missense_Mutation_p.A576T|ELN_ENST00000380575.4_Missense_Mutation_p.A561T|ELN_ENST00000380576.5_Missense_Mutation_p.A571T|ELN_ENST00000320492.7_Missense_Mutation_p.A509T|ELN_ENST00000458204.1_Missense_Mutation_p.A580T|ELN_ENST00000357036.5_Missense_Mutation_p.A595T	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				CCTGGCTGCCGCTAAAGCAGC	0.592			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																															ENST00000252034.7				Dom	yes		7	7q11.23	2006	T	elastin	yes	"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""	L	PAX5		B-ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32						c.(1768-1770)Gct>Act		elastin	Rofecoxib(DB00533)						68.0	65.0	66.0					7																	73475451		2203	4300	6503	SO:0001583	missense	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73475451G>A		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1768G>A	7.37:g.73475451G>A	ENSP00000252034:p.Ala590Thr					ELN_ENST00000320492.7_Missense_Mutation_p.A509T|ELN_ENST00000380575.4_Missense_Mutation_p.A561T|ELN_ENST00000380576.5_Missense_Mutation_p.A571T|ELN_ENST00000358929.4_Missense_Mutation_p.A658T|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000414324.1_Missense_Mutation_p.A566T|ELN_ENST00000380553.4_Missense_Mutation_p.A454T|ELN_ENST00000380584.4_Missense_Mutation_p.A542T|ELN_ENST00000380562.4_Missense_Mutation_p.A596T|ELN_ENST00000429192.1_Missense_Mutation_p.A576T|ELN_ENST00000458204.1_Missense_Mutation_p.A580T|ELN_ENST00000357036.5_Missense_Mutation_p.A595T|ELN_ENST00000445912.1_Missense_Mutation_p.A590T|ELN_ENST00000320399.6_Missense_Mutation_p.A623T	p.A590T	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN			26	2167	+		Lung NSC(55;0.159)	652			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	ENST00000252034.7	37	c.1768G>A	CCDS5562.2	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541999	0.45280	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000320492;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000429192;ENST00000442462;ENST00000380553;ENST00000380576;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.38560	1.17;1.21;1.28;1.23;1.17;1.21;1.24;1.13;1.16;1.17;1.17;1.21;1.17;1.28	4.25	3.33	0.38152	.	.	.	.	.	T	0.25494	0.0620	.	.	.	0.24878	N	0.992241	P;P;P;P;P;P;P;P;P;P;P;P;P	0.50066	0.931;0.931;0.931;0.931;0.931;0.931;0.931;0.931;0.931;0.931;0.931;0.931;0.931	B;B;B;B;B;B;B;B;B;B;B;B;B	0.38921	0.285;0.285;0.285;0.285;0.285;0.285;0.285;0.285;0.285;0.285;0.285;0.285;0.285	T	0.03829	-1.1000	8	0.18710	T	0.47	-8.5681	9.1679	0.37063	0.0:0.0:0.7726:0.2274	.	590;509;566;580;596;561;576;595;571;454;501;542;590	E7ENM0;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.	T	590;590;658;509;566;596;561;542;580;595;576;529;454;571;623	ENSP00000389857:A590T;ENSP00000252034:A590T;ENSP00000351807:A658T;ENSP00000315607:A509T;ENSP00000392575:A566T;ENSP00000369936:A596T;ENSP00000369949:A561T;ENSP00000369958:A542T;ENSP00000403162:A580T;ENSP00000349540:A595T;ENSP00000391129:A576T;ENSP00000369926:A454T;ENSP00000369950:A571T;ENSP00000313565:A623T	ENSP00000252034:A590T	A	+	1	0	ELN	73113387	0.687000	0.27671	0.495000	0.27527	0.867000	0.49689	1.618000	0.36954	1.068000	0.40764	0.456000	0.33151	GCT		0.592	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		47	44	0	0	0	1	0	47	44				
DPY19L2	283417	broad.mit.edu	37	12	63954301	63954301	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr12:63954301C>A	ENST00000324472.4	-	22	2451	c.2268G>T	c.(2266-2268)aaG>aaT	p.K756N	DPY19L2_ENST00000413230.2_Missense_Mutation_p.K203N	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	756					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		CTCAGTTAACCTTTAATACTC	0.413																																						ENST00000324472.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2266-2268)aaG>aaT		dpy-19-like 2 (C. elegans)							85.0	80.0	82.0					12																	63954301		2203	4300	6503	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:63954301C>A		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.2268G>T	12.37:g.63954301C>A	ENSP00000315988:p.Lys756Asn					DPY19L2_ENST00000413230.2_Missense_Mutation_p.K203N	p.K756N	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	22	2451	-			756					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.2268G>T	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.312466	0.60414	.	.	ENSG00000177990	ENST00000324472;ENST00000413230	T;T	0.61392	0.11;0.11	3.0	0.428	0.16499	.	0.298287	0.35936	N	0.002897	T	0.64811	0.2632	M	0.75777	2.31	0.38709	D	0.953166	D	0.59357	0.985	P	0.61477	0.889	T	0.63585	-0.6604	9	.	.	.	.	4.0931	0.09978	0.0:0.528:0.0:0.4719	.	756	Q6NUT2	D19L2_HUMAN	N	756;203	ENSP00000315988:K756N;ENSP00000439794:K203N	.	K	-	3	2	DPY19L2	62240568	0.996000	0.38824	0.392000	0.26245	0.195000	0.23768	0.312000	0.19397	0.375000	0.24679	0.162000	0.16502	AAG		0.413	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		6	49	1	0	0.0215528	1	0.0215528	6	49				
CFH	3075	broad.mit.edu	37	1	196645165	196645165	+	Missense_Mutation	SNP	G	G	A	rs373339058		TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr1:196645165G>A	ENST00000359637.2	+	4	459	c.397G>A	c.(397-399)Gga>Aga	p.G133R	CFH_ENST00000439155.2_Missense_Mutation_p.G133R|CFH_ENST00000367429.4_Missense_Mutation_p.G133R			P08603	CFAH_HUMAN	complement factor H	197	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.G133R(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGACACAGATGGATGGACCAA	0.289																																						ENST00000367429.4																			1	Substitution - Missense(1)	p.G133R(1)	large_intestine(1)	NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(397-399)Gga>Aga		complement factor H		G	ARG/GLY,ARG/GLY	0,4406		0,0,2203	195.0	180.0	185.0		397,397	5.5	1.0	1		185	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CFH	NM_000186.3,NM_001014975.2	125,125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	133/1232,133/450	196645165	1,13005	2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196645165G>A	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.397G>A	1.37:g.196645165G>A	ENSP00000352658:p.Gly133Arg					CFH_ENST00000439155.2_Missense_Mutation_p.G133R|CFH_ENST00000359637.2_Missense_Mutation_p.G133R	p.G133R	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			4	637	+			133			Sushi 2.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37	c.397G>A		.	.	.	.	.	.	.	.	.	.	G	21.2	4.110358	0.77210	0.0	1.16E-4	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	D;D;D	0.82344	-1.6;-1.6;-1.6	5.5	5.5	0.81552	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.91358	0.7274	M	0.88775	2.98	0.41007	D	0.984971	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.997	D	0.89855	0.4012	9	0.17369	T	0.5	.	14.9068	0.70727	0.0:0.0:1.0:0.0	.	133;133;133;133	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	R	133	ENSP00000356399:G133R;ENSP00000402656:G133R;ENSP00000352658:G133R	ENSP00000352658:G133R	G	+	1	0	CFH	194911788	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	6.152000	0.71812	2.585000	0.87301	0.462000	0.41574	GGA		0.289	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		27	34	0	0	0	1	0	27	34				
CTDSP1	58190	broad.mit.edu	37	2	219269079	219269081	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr2:219269079_219269081delCTT	ENST00000273062.2	+	7	1053_1055	c.717_719delCTT	c.(715-720)cccttc>ccc	p.F241del	CTDSP1_ENST00000488627.1_3'UTR|MIR26B_ENST00000362251.2_RNA|CTDSP1_ENST00000443891.1_In_Frame_Del_p.F240del	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1	241	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|protein dephosphorylation (GO:0006470)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCTCCTCCCCTTCTTCGAGCAA	0.626																																						ENST00000273062.2																			0				NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8						c.(715-720)ccc>cc		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1																																				SO:0001651	inframe_deletion	58190				protein dephosphorylation|regulation of transcription from RNA polymerase II promoter	nucleus	CTD phosphatase activity|metal ion binding|protein binding	g.chr2:219269079_219269081delCTT	AF229162	CCDS2416.1, CCDS56166.1	2q35	2010-06-21			ENSG00000144579	ENSG00000144579		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	21614	protein-coding gene	gene with protein product	"""nuclear LIM interactor-interacting factor"", ""small CTD phosphatase 1"""	605323				11950066, 12721286	Standard	NM_021198		Approved	NLIIF, SCP1	uc021vwv.1	Q9GZU7	OTTHUMG00000133109	ENST00000273062.2:c.717_719delCTT	2.37:g.219269082_219269084delCTT	ENSP00000273062:p.Phe241del					CTDSP1_ENST00000443891.1_In_Frame_Del_p.PF238del|CTDSP1_ENST00000488627.1_3'UTR	p.PF239del	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	1053_1055	+		Renal(207;0.0915)	239			FCP1 homology.		C9IYG0|Q7Z5Q3|Q7Z5Q4	In_Frame_Del	DEL	ENST00000273062.2	37	c.717_719delCTT	CCDS2416.1																																																																																				0.626	CTDSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256774.1	NM_182642, NM_021198		66	103						66	103	---	---	---	---
CDC20B	166979	broad.mit.edu	37	5	54442517	54442518	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr5:54442517_54442518insTC	ENST00000381375.2	-	3	438_439	c.293_294insGA	c.(292-294)tacfs	p.Y98fs	CDC20B_ENST00000331730.3_Frame_Shift_Ins_p.Y77fs|CDC20B_ENST00000296733.1_Frame_Shift_Ins_p.Y98fs|CDC20B_ENST00000322374.6_Frame_Shift_Ins_p.Y98fs|CDC20B_ENST00000334206.5_Frame_Shift_Ins_p.Y98fs			Q86Y33	CD20B_HUMAN	cell division cycle 20B	98										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			CTTCTGGGAGGTAGGTGGTTGA	0.55											OREG0016610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000334206.5																			0				kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19						c.(292-294)tctfs		cell division cycle 20B																																				SO:0001589	frameshift_variant	166979							g.chr5:54442517_54442518insTC	AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"""WD repeat domain containing"""	24222	protein-coding gene	gene with protein product			"""CDC20 cell division cycle 20 homolog B (S. cerevisiae)"", ""cell division cycle 20 homolog B (S. cerevisiae)"""				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.293_294insGA	5.37:g.54442517_54442518insTC	ENSP00000370781:p.Tyr98fs		OREG0016610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1000	CDC20B_ENST00000296733.1_Frame_Shift_Ins_p.S98fs|CDC20B_ENST00000381375.2_Frame_Shift_Ins_p.S98fs|CDC20B_ENST00000331730.3_Frame_Shift_Ins_p.S77fs|CDC20B_ENST00000322374.6_Frame_Shift_Ins_p.S98fs	p.S98fs			Q86Y33	CD20B_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.225)		3	469_470	-		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	98					B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Frame_Shift_Ins	INS	ENST00000381375.2	37	c.293_294insGA	CCDS54852.1																																																																																				0.550	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	NM_152623		33	45						33	45	---	---	---	---
SUDS3P1	285647	broad.mit.edu	37	5	177398373	177398396	+	RNA	DEL	AGGACGAAGAGCTGGAGAGCGCCA	AGGACGAAGAGCTGGAGAGCGCCA	-	rs548039666|rs70994948|rs71585660|rs568597025|rs535774316	byFrequency	TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA	ENST00000511650.1	+	0	145																											GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA	0.683														1220	0.24361	0.2678	0.3372	5008	,	,		15351	0.1548		0.2674	False		,,,				2504	0.2117					ENST00000511650.1																			0																																																			0							g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA																													5.37:g.177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA														0	145	+									RNA	DEL	ENST00000511650.1	37																																																																																						0.683	RP11-1252I4.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000373553.1			5	5						5	5	---	---	---	---
TULP1	7287	broad.mit.edu	37	6	35480000	35480000	+	Frame_Shift_Del	DEL	G	G	-			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr6:35480000delG	ENST00000229771.6	-	3	226	c.147delC	c.(145-147)cccfs	p.P49fs	TULP1_ENST00000322263.4_Frame_Shift_Del_p.P49fs	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	49					dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						AGGGGGATTCGGGGGCCTCCG	0.721																																					GBM(55;1027 1091 11115 23439)	ENST00000229771.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(145-147)ccfs		tubby like protein 1							3.0	4.0	4.0					6																	35480000		1879	3888	5767	SO:0001589	frameshift_variant	7287				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr6:35480000delG	U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.147delC	6.37:g.35480000delG	ENSP00000229771:p.Pro49fs					TULP1_ENST00000322263.4_Frame_Shift_Del_p.P49fs	p.P49fs	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN			3	226	-			49					O43536|Q5TGM5|Q8N571	Frame_Shift_Del	DEL	ENST00000229771.6	37	c.147delC	CCDS4807.1																																																																																				0.721	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2			2	4						2	4	---	---	---	---
MLEC	9761	broad.mit.edu	37	12	121134166	121134168	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr12:121134166_121134168delGAA	ENST00000228506.3	+	5	1125_1127	c.697_699delGAA	c.(697-699)gaadel	p.E238del	RP11-173P15.3_ENST00000541383.1_RNA|MLEC_ENST00000412616.2_In_Frame_Del_p.K159del|RP11-173P15.3_ENST00000535720.1_RNA	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	238	Poly-Glu.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)	p.E233E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						gaaagaagaggaagaagaagaag	0.458																																						ENST00000228506.3																			1	Substitution - coding silent(1)	p.E233E(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						c.(697-699)del		malectin				4,33,4227		0,0,4,8,17,2103						1.0	1.0			129	1,29,8224		0,0,1,6,17,4103	no	codingComplex	MLEC	NM_014730.2		0,0,5,14,34,6206	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3635,0.8677,0.5352				5,62,12451				SO:0001651	inframe_deletion	9761				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	g.chr12:121134166_121134168delGAA	BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	613802	"""KIAA0152"""	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.697_699delGAA	12.37:g.121134175_121134177delGAA	ENSP00000228506:p.Glu238del					MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del	p.E238del	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN			5	1125_1127	+			238			Poly-Glu.			In_Frame_Del	DEL	ENST00000228506.3	37	c.697_699delGAA	CCDS9206.1																																																																																				0.458	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2	NM_014730		7	159						7	159	---	---	---	---
CNTNAP1	8506	broad.mit.edu	37	17	40837976	40837976	+	Splice_Site	DEL	C	C	-			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr17:40837976delC	ENST00000264638.4	+	6	934	c.717delC	c.(715-717)ggc>gg	p.G239fs	CTD-3193K9.3_ENST00000592440.1_RNA|CCR10_ENST00000591765.1_5'Flank	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	239	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CACCCTCAGGCAGCAGCCCTA	0.607																																						ENST00000264638.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.e6-1		contactin associated protein 1							99.0	88.0	92.0					17																	40837976		2203	4300	6503	SO:0001630	splice_region_variant	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40837976delC	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.716-1C>-	17.37:g.40837976delC						CTD-3193K9.3_ENST00000592440.1_RNA	p.G239_splice	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	6	934	+		Breast(137;0.000143)	239			Laminin G-like 1.			Splice_Site	DEL	ENST00000264638.4	37	c.715_splice	CCDS11436.1																																																																																				0.607	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632	Frame_Shift_Del	49	68						49	68	---	---	---	---
CYP2A6	1548	broad.mit.edu	37	19	41350562	41350562	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr19:41350562delC	ENST00000301141.5	-	8	1297	c.1277delG	c.(1276-1278)agtfs	p.S426fs	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	426					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	AAAAGCATCACTCTTCTTAAA	0.567																																						ENST00000301141.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37						c.(1276-1278)atfs		cytochrome P450, family 2, subfamily A, polypeptide 6	Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)						161.0	149.0	153.0					19																	41350562		2203	4300	6503	SO:0001589	frameshift_variant	1548				coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding	g.chr19:41350562delC	AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"""Cytochrome P450s"""	2610	protein-coding gene	gene with protein product		122720	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"""	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.1277delG	19.37:g.41350562delC	ENSP00000301141:p.Ser426fs					CTC-490E21.12_ENST00000601627.1_Intron	p.S426fs	NM_000762.5	NP_000753.3	P11509	CP2A6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		8	1297	-			426					A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Frame_Shift_Del	DEL	ENST00000301141.5	37	c.1277delG	CCDS12568.1																																																																																				0.567	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	NM_000762		86	68						86	68	---	---	---	---
C20orf96	140680	broad.mit.edu	37	20	257752	257752	+	Frame_Shift_Del	DEL	T	T	-			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr20:257752delT	ENST00000360321.2	-	8	896	c.758delA	c.(757-759)aagfs	p.K253fs	C20orf96_ENST00000400269.3_Frame_Shift_Del_p.K195fs|C20orf96_ENST00000382369.5_Frame_Shift_Del_p.K218fs	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	253										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			TTCCAGGACCTTTCTGCGCAT	0.552																																						ENST00000360321.2																			0				endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(757-759)agfs		chromosome 20 open reading frame 96							137.0	152.0	147.0					20																	257752		2203	4300	6503	SO:0001589	frameshift_variant	140680							g.chr20:257752delT	AL034548	CCDS12994.1, CCDS74685.1	20p13	2012-10-30			ENSG00000196476	ENSG00000196476			16227	protein-coding gene	gene with protein product							Standard	NM_153269		Approved	dJ1103G7.2	uc002wde.2	Q9NUD7	OTTHUMG00000031626	ENST00000360321.2:c.758delA	20.37:g.257752delT	ENSP00000353470:p.Lys253fs					C20orf96_ENST00000382369.5_Frame_Shift_Del_p.K218fs|C20orf96_ENST00000400269.3_Frame_Shift_Del_p.K195fs	p.K253fs	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		8	896	-		all_cancers(10;0.00959)|Lung NSC(37;0.227)	253					A3KPE0|B2RPH9|Q8N840|Q8NAX5	Frame_Shift_Del	DEL	ENST00000360321.2	37	c.758delA	CCDS12994.1																																																																																				0.552	C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077439.2	NM_153269		125	178						125	178	---	---	---	---
AP001604.3	0	broad.mit.edu	37	21	28793489	28793490	+	lincRNA	INS	-	-	T	rs34195125		TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr21:28793489_28793490insT	ENST00000420186.2	-	0	202																											atttttttttcttttttttttt	0.347																																						ENST00000420186.2																			0																																																			0							g.chr21:28793489_28793490insT																													21.37:g.28793500_28793500dupT														0	202	-									RNA	INS	ENST00000420186.2	37																																																																																						0.347	AP001604.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000171665.2			4	7						4	7	---	---	---	---
AKAP4	8852	broad.mit.edu	37	X	49955731	49955733	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chrX:49955731_49955733delCTG	ENST00000376056.2	-	6	2558_2560	c.2408_2410delCAG	c.(2407-2412)gcagag>gag	p.A803del	AKAP4_ENST00000358526.2_In_Frame_Del_p.A812del|AKAP4_ENST00000376058.2_In_Frame_Del_p.A429del|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_In_Frame_Del_p.A803del					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TACCCCTTCTCTGCTGCTTTAGC	0.498																																						ENST00000376056.2																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41						c.(2407-2412)gag>g		A kinase (PRKA) anchor protein 4																																				SO:0001651	inframe_deletion	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49955731_49955733delCTG	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.2408_2410delCAG	X.37:g.49955734_49955736delCTG	ENSP00000365224:p.Ala803del					AKAP4_ENST00000376058.2_In_Frame_Del_p.AE429del|AKAP4_ENST00000376064.3_In_Frame_Del_p.AE803del|AKAP4_ENST00000358526.2_In_Frame_Del_p.AE812del|AKAP4_ENST00000481402.1_5'UTR	p.AE803del			Q5JQC9	AKAP4_HUMAN			6	2558_2560	-	Ovarian(276;0.236)		812						In_Frame_Del	DEL	ENST00000376056.2	37	c.2408_2410delCAG	CCDS14330.1																																																																																				0.498	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		58	18						58	18	---	---	---	---
