#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
PPP2R5E	5529	broad.mit.edu	37	14	63858584	63858584	+	Splice_Site	SNP	A	A	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr14:63858584A>G	ENST00000337537.3	-	10	1507	c.905T>C	c.(904-906)gTt>gCt	p.V302A	PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000422769.2_Splice_Site_p.V226A|PPP2R5E_ENST00000555899.1_Splice_Site_p.V302A	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	302					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		CCCCCTAATAACCTAAAATGA	0.299																																						ENST00000337537.3																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15						c.e10-1		protein phosphatase 2, regulatory subunit B', epsilon isoform							71.0	73.0	72.0					14																	63858584		2203	4300	6503	SO:0001630	splice_region_variant	5529				signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:63858584A>G	L76703	CCDS9758.1, CCDS61467.1, CCDS61468.1	14q23.2	2010-06-18	2007-01-22		ENSG00000154001	ENSG00000154001		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9313	protein-coding gene	gene with protein product		601647	"""protein phosphatase 2, regulatory subunit B (B56), epsilon isoform"""			7592815	Standard	NM_006246		Approved		uc001xgd.1	Q16537	OTTHUMG00000140341	ENST00000337537.3:c.904-1T>C	14.37:g.63858584A>G						PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000422769.2_Splice_Site_p.V226_splice|PPP2R5E_ENST00000555899.1_Splice_Site_p.V302_splice	p.V302_splice	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)	10	1507	-			302					A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Splice_Site	SNP	ENST00000337537.3	37	c.903_splice	CCDS9758.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.686356	0.88639	.	.	ENSG00000154001	ENST00000337537;ENST00000555899;ENST00000422769	.	.	.	5.39	5.39	0.77823	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83445	0.5256	M	0.87269	2.87	0.80722	D	1	D;D	0.64830	0.97;0.994	P;D	0.68192	0.863;0.956	D	0.86740	0.1954	9	0.87932	D	0	-9.2625	15.6906	0.77450	1.0:0.0:0.0:0.0	.	302;302	B7ZKK9;Q16537	.;2A5E_HUMAN	A	302;302;226	.	ENSP00000337641:V302A	V	-	2	0	PPP2R5E	62928337	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.214000	0.95140	2.158000	0.67659	0.533000	0.62120	GTT		0.299	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276973.1	NM_006246	Missense_Mutation	13	40	0	0	0	1	0	13	40				
FAM65A	79567	broad.mit.edu	37	16	67579900	67579900	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr16:67579900C>T	ENST00000379312.3	+	20	3569	c.3448C>T	c.(3448-3450)Cga>Tga	p.R1150*	FAM65A_ENST00000422602.2_Nonsense_Mutation_p.R1166*|FAM65A_ENST00000042381.4_Nonsense_Mutation_p.R1146*|FAM65A_ENST00000540839.3_Nonsense_Mutation_p.R1165*|FAM65A_ENST00000428437.2_Nonsense_Mutation_p.R1160*	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	1150						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CGTGCAGACTCGAGTGGCTGG	0.657																																						ENST00000540839.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(3493-3495)Cga>Tga		family with sequence similarity 65, member A							99.0	97.0	98.0					16																	67579900		2198	4300	6498	SO:0001587	stop_gained	79567					cytoplasm	binding	g.chr16:67579900C>T	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.3448C>T	16.37:g.67579900C>T	ENSP00000368614:p.Arg1150*					FAM65A_ENST00000379312.3_Nonsense_Mutation_p.R1150*|FAM65A_ENST00000428437.2_Nonsense_Mutation_p.R1160*|FAM65A_ENST00000422602.2_Nonsense_Mutation_p.R1166*|FAM65A_ENST00000042381.4_Nonsense_Mutation_p.R1146*	p.R1165*			Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	21	3713	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	1150					B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Nonsense_Mutation	SNP	ENST00000379312.3	37	c.3493C>T	CCDS54028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	7.186970|7.186970	0.98121|0.98121	.|.	.|.	ENSG00000039523|ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839|ENST00000428437	.|.	.|.	.|.	5.58|5.58	4.6|4.6	0.57074|0.57074	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.61912	.|0.2385	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69351	.|-0.5168	.|3	0.02654|.	T|.	1|.	-8.197|-8.197	12.3173|12.3173	0.54964|0.54964	0.405:0.595:0.0:0.0|0.405:0.595:0.0:0.0	.|.	.|.	.|.	.|.	X|L	1150;1146;1166;1160|1139	.|.	ENSP00000042381:R1146X|.	R|S	+|+	1|2	2|0	FAM65A|FAM65A	66137401|66137401	0.892000|0.892000	0.30473|0.30473	0.970000|0.970000	0.41538|0.41538	0.997000|0.997000	0.91878|0.91878	1.776000|1.776000	0.38594|0.38594	1.221000|1.221000	0.43506|0.43506	0.655000|0.655000	0.94253|0.94253	CGA|TCG		0.657	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		57	37	0	0	0	1	0	57	37				
MYPN	84665	broad.mit.edu	37	10	69918245	69918245	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr10:69918245G>T	ENST00000358913.5	+	7	1808	c.1320G>T	c.(1318-1320)atG>atT	p.M440I	MYPN_ENST00000354393.2_Missense_Mutation_p.M165I|MYPN_ENST00000540630.1_Missense_Mutation_p.M440I|MYPN_ENST00000373675.3_Missense_Mutation_p.M440I|RN7SKP202_ENST00000410439.1_RNA	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	440	Ig-like 2.|Interaction with CARP.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CATTATAGATGCTACAAAATT	0.363																																						ENST00000358913.5																			0				breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						c.(1318-1320)atG>atT		myopalladin							85.0	84.0	85.0					10																	69918245		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69918245G>T	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.1320G>T	10.37:g.69918245G>T	ENSP00000351790:p.Met440Ile					MYPN_ENST00000373675.3_Missense_Mutation_p.M440I|MYPN_ENST00000540630.1_Missense_Mutation_p.M440I|MYPN_ENST00000354393.2_Missense_Mutation_p.M165I	p.M440I	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN			7	1808	+			440			Ig-like 2.|Interaction with CARP.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.1320G>T	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964357	0.74131	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630;ENST00000373675	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	5.62	5.62	0.85841	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.143577	0.64402	D	0.000005	T	0.55657	0.1934	N	0.04203	-0.255	0.41418	D	0.987782	P;D;P;P	0.57899	0.627;0.981;0.758;0.514	B;P;B;B	0.53593	0.29;0.73;0.362;0.294	T	0.58578	-0.7612	9	.	.	.	.	15.1711	0.72875	0.0:0.1405:0.8595:0.0	.	440;440;165;440	F5GWA6;Q86TC9-3;Q86TC9-2;Q86TC9	.;.;.;MYPN_HUMAN	I	165;165;440;440;440	ENSP00000346369:M165I;ENSP00000351790:M440I;ENSP00000441668:M440I;ENSP00000362779:M440I	.	M	+	3	0	MYPN	69588251	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.888000	0.56204	2.661000	0.90470	0.655000	0.94253	ATG		0.363	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		4	37	1	0	0.000602214	1	0.000634476	4	37				
MTIF2	4528	broad.mit.edu	37	2	55463904	55463904	+	Silent	SNP	C	C	A	rs138084091	byFrequency	TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr2:55463904C>A	ENST00000263629.4	-	16	2379	c.2064G>T	c.(2062-2064)acG>acT	p.T688T	MTIF2_ENST00000403721.1_Silent_p.T688T|MTIF2_ENST00000394600.3_Silent_p.T688T	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	688					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						AATCCATTCCCGTTTTGACAA	0.313																																						ENST00000394600.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						c.(2062-2064)acG>acT		mitochondrial translational initiation factor 2							91.0	86.0	88.0					2																	55463904		2203	4300	6503	SO:0001819	synonymous_variant	4528				regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity	g.chr2:55463904C>A	L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.2064G>T	2.37:g.55463904C>A						MTIF2_ENST00000263629.4_Silent_p.T688T|MTIF2_ENST00000403721.1_Silent_p.T688T	p.T688T	NM_001005369.1	NP_001005369.1	P46199	IF2M_HUMAN			17	2800	-			688					D6W5D0	Silent	SNP	ENST00000263629.4	37	c.2064G>T	CCDS1853.1																																																																																				0.313	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251486.4	NM_002453		5	17	1	0	0.184627	1	0.184627	5	17				
PTPRA	5786	broad.mit.edu	37	20	2985712	2985712	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr20:2985712C>T	ENST00000216877.6	+	9	1122	c.722C>T	c.(721-723)gCa>gTa	p.A241V	PTPRA_ENST00000380393.3_Missense_Mutation_p.A250V|PTPRA_ENST00000318266.5_Missense_Mutation_p.A241V|PTPRA_ENST00000425918.2_Missense_Mutation_p.A261V|PTPRA_ENST00000358719.4_Missense_Mutation_p.A106V|PTPRA_ENST00000356147.3_Missense_Mutation_p.A241V|PTPRA_ENST00000399903.2_Missense_Mutation_p.A250V	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	250	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCTCTCCCTGCATGTCCTATC	0.438																																						ENST00000216877.6																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(721-723)gCa>gTa		protein tyrosine phosphatase, receptor type, A							227.0	228.0	227.0					20																	2985712		2203	4300	6503	SO:0001583	missense	0				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr20:2985712C>T		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.722C>T	20.37:g.2985712C>T	ENSP00000216877:p.Ala241Val					PTPRA_ENST00000425918.2_Missense_Mutation_p.A261V|PTPRA_ENST00000399903.2_Missense_Mutation_p.A250V|PTPRA_ENST00000380393.3_Missense_Mutation_p.A250V|PTPRA_ENST00000358719.4_Missense_Mutation_p.A106V|PTPRA_ENST00000318266.5_Missense_Mutation_p.A241V|PTPRA_ENST00000356147.3_Missense_Mutation_p.A241V	p.A241V	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN			9	1122	+			250			Tyrosine-protein phosphatase 1.		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	c.722C>T	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762043	0.49468	.	.	ENSG00000132670	ENST00000380393;ENST00000455631;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000425918;ENST00000318266;ENST00000356147	T;T;T;T;T;T;T;T	0.47177	2.73;0.85;2.73;2.73;2.73;2.73;2.73;2.73	5.66	5.66	0.87406	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.227144	0.37761	U	0.001946	T	0.41743	0.1172	L	0.33293	1	0.44188	D	0.997009	B;B;B;B	0.11235	0.001;0.001;0.004;0.002	B;B;B;B	0.06405	0.001;0.001;0.001;0.002	T	0.16660	-1.0395	10	0.49607	T	0.09	.	18.5318	0.90995	0.0:1.0:0.0:0.0	.	261;250;250;241	B7Z2A4;P18433-3;P18433;P18433-4	.;.;PTPRA_HUMAN;.	V	250;241;241;250;106;261;241;241	ENSP00000369756:A250V;ENSP00000414089:A241V;ENSP00000216877:A241V;ENSP00000382787:A250V;ENSP00000351559:A106V;ENSP00000393553:A261V;ENSP00000314568:A241V;ENSP00000348468:A241V	ENSP00000216877:A241V	A	+	2	0	PTPRA	2933712	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.309000	0.51903	2.675000	0.91044	0.655000	0.94253	GCA		0.438	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			5	244	0	0	0	1	0	5	244				
NELFCD	51497	broad.mit.edu	37	20	57564966	57564966	+	Silent	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr20:57564966C>T	ENST00000344018.3	+	7	765	c.738C>T	c.(736-738)tcC>tcT	p.S246S	NELFCD_ENST00000602795.1_Silent_p.S255S			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	246					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)											CCATGATGTCCGTGCTGGCCC	0.617																																						ENST00000602795.1																			0											c.(763-765)tcC>tcT		negative elongation factor complex member C/D							66.0	55.0	59.0					20																	57564966		2203	4300	6503	SO:0001819	synonymous_variant	51497							g.chr20:57564966C>T	AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158			15934	protein-coding gene	gene with protein product	"""trihydrophobin 1"""	605297	"""TH1-like (Drosophila homolog)"", ""TH1-like (Drosophila)"""	TH1L		11030415, 11042152	Standard	NM_198976		Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000344018.3:c.738C>T	20.37:g.57564966C>T						NELFCD_ENST00000344018.3_Silent_p.S246S	p.S255S							7	813	+								B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Silent	SNP	ENST00000344018.3	37	c.765C>T																																																																																					0.617	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198976		24	102	0	0	0	1	0	24	102				
INADL	10207	broad.mit.edu	37	1	62582864	62582864	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr1:62582864G>A	ENST00000371158.2	+	37	4978	c.4864G>A	c.(4864-4866)Gca>Aca	p.A1622T	INADL_ENST00000543708.1_Missense_Mutation_p.A436T	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1622					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CTGGACCTCCGCAAGGACGAC	0.483																																						ENST00000371158.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.(4864-4866)Gca>Aca		InaD-like (Drosophila)							81.0	74.0	76.0					1																	62582864		1928	4150	6078	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62582864G>A	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.4864G>A	1.37:g.62582864G>A	ENSP00000360200:p.Ala1622Thr					INADL_ENST00000543708.1_Missense_Mutation_p.A436T	p.A1622T	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN			37	4978	+			1622					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.4864G>A	CCDS617.2	.	.	.	.	.	.	.	.	.	.	g	0.098	-1.156402	0.01686	.	.	ENSG00000132849	ENST00000371158;ENST00000543708	T;T	0.17213	2.71;2.29	5.81	2.34	0.29019	.	0.537656	0.17176	N	0.184074	T	0.07234	0.0183	N	0.08118	0	0.80722	D	1	B;B;B	0.12013	0.004;0.005;0.003	B;B;B	0.08055	0.001;0.001;0.003	T	0.31280	-0.9949	10	0.14252	T	0.57	.	7.5329	0.27693	0.223:0.0:0.1427:0.6343	.	436;1081;1622	B4DE90;Q8NI35-5;Q8NI35	.;.;INADL_HUMAN	T	1622;436	ENSP00000360200:A1622T;ENSP00000445790:A436T	ENSP00000360200:A1622T	A	+	1	0	INADL	62355452	0.425000	0.25498	0.721000	0.30653	0.027000	0.11550	1.098000	0.31000	0.162000	0.19483	-0.119000	0.15052	GCA		0.483	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		3	30	0	0	0	1	0	3	30				
SMARCA5	8467	broad.mit.edu	37	4	144445586	144445586	+	Silent	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr4:144445586C>T	ENST00000283131.3	+	4	948	c.486C>T	c.(484-486)acC>acT	p.T162T		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	162					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					CCAAAGCAACCAATGTTTGCA	0.363																																						ENST00000283131.3																		EWSR1/SMARCA5(2)	0				endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(484-486)acC>acT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5							112.0	111.0	111.0					4																	144445586		2203	4300	6503	SO:0001819	synonymous_variant	8467				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	g.chr4:144445586C>T	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.486C>T	4.37:g.144445586C>T							p.T162T	NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN			4	948	+	all_hematologic(180;0.158)		162						Silent	SNP	ENST00000283131.3	37	c.486C>T	CCDS3761.1																																																																																				0.363	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			12	25	0	0	0	1	0	12	25				
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50.0	48.0	49.0					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		3	31	0	0	0	1	0	3	31				
RPRD2	23248	broad.mit.edu	37	1	150444176	150444176	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr1:150444176G>A	ENST00000369068.4	+	11	2756	c.2752G>A	c.(2752-2754)Gta>Ata	p.V918I	RPRD2_ENST00000539519.1_Missense_Mutation_p.V892I|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Missense_Mutation_p.V892I	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	918	Ser-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TGCCTTCAGCGTAAGAGGGAA	0.507																																						ENST00000401000.4																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(2674-2676)Gta>Ata		regulation of nuclear pre-mRNA domain containing 2							196.0	194.0	194.0					1																	150444176		2006	4174	6180	SO:0001583	missense	23248						protein binding	g.chr1:150444176G>A	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.2752G>A	1.37:g.150444176G>A	ENSP00000358064:p.Val918Ile					RPRD2_ENST00000539519.1_Missense_Mutation_p.V892I|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.V918I	p.V892I			Q5VT52	RPRD2_HUMAN			10	2739	+			918			Ser-rich.		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	c.2674G>A	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.418245	0.01136	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369068	T;T;T	0.41758	1.0;0.99;1.0	5.32	-1.59	0.08453	.	0.409852	0.25717	N	0.028778	T	0.03651	0.0104	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.35251	-0.9796	10	0.02654	T	1	-1.4748	3.2622	0.06853	0.3573:0.3938:0.15:0.0989	.	892;918;892	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	I	892;892;918	ENSP00000383785:V892I;ENSP00000445482:V892I;ENSP00000358064:V918I	ENSP00000358064:V918I	V	+	1	0	RPRD2	148710800	0.010000	0.17322	0.955000	0.39395	0.990000	0.78478	-0.056000	0.11787	-0.118000	0.11851	-0.312000	0.09012	GTA		0.507	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		5	367	0	0	0	1	0	5	367				
RCSD1	92241	broad.mit.edu	37	1	167663457	167663457	+	Missense_Mutation	SNP	G	G	A	rs376910996		TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr1:167663457G>A	ENST00000367854.3	+	5	723	c.392G>A	c.(391-393)cGa>cAa	p.R131Q	RCSD1_ENST00000537350.1_Missense_Mutation_p.R101Q	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	131					cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CCTGGTGTGCGATCTAGGCCC	0.592																																						ENST00000367854.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24						c.(391-393)cGa>cAa		RCSD domain containing 1		G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	67.0	63.0	64.0		392	-0.0	0.0	1		64	0,8600		0,0,4300	no	missense	RCSD1	NM_052862.3	43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	131/417	167663457	2,13004	2203	4300	6503	SO:0001583	missense	92241							g.chr1:167663457G>A	BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.392G>A	1.37:g.167663457G>A	ENSP00000356828:p.Arg131Gln					RCSD1_ENST00000537350.1_Missense_Mutation_p.R101Q	p.R131Q	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN			5	723	+	all_hematologic(923;0.215)		131					B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Missense_Mutation	SNP	ENST00000367854.3	37	c.392G>A	CCDS1263.1	.	.	.	.	.	.	.	.	.	.	G	6.398	0.441536	0.12164	4.54E-4	0.0	ENSG00000198771	ENST00000367854;ENST00000361496;ENST00000537350	T;T	0.46819	0.88;0.86	5.18	-0.00962	0.14000	.	0.506844	0.18304	N	0.145311	T	0.07234	0.0183	N	0.21617	0.685	0.27928	N	0.937984	B;P	0.42248	0.123;0.774	B;B	0.26864	0.005;0.074	T	0.34030	-0.9845	9	0.12766	T	0.61	-0.8743	5.9102	0.19025	0.506:0.137:0.357:0.0	.	101;131	B7ZKW8;Q6JBY9	.;CPZIP_HUMAN	Q	131;107;101	ENSP00000356828:R131Q;ENSP00000439409:R101Q	ENSP00000355291:R107Q	R	+	2	0	RCSD1	165930081	0.005000	0.15991	0.000000	0.03702	0.145000	0.21501	1.647000	0.37260	-0.177000	0.10690	-0.136000	0.14681	CGA		0.592	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085451.1	NM_052862		9	84	0	0	0	1	0	9	84				
CHMP4A	29082	broad.mit.edu	37	14	24679649	24679649	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr14:24679649T>A	ENST00000609024.1	-	5	563	c.515A>T	c.(514-516)gAa>gTa	p.E172V	TM9SF1_ENST00000556387.1_Missense_Mutation_p.E172V|CHMP4A_ENST00000542700.2_5'UTR|AL136419.6_ENST00000565988.1_RNA|TM9SF1_ENST00000530611.1_Missense_Mutation_p.E172V|CHMP4A_ENST00000347519.6_Missense_Mutation_p.E215V|CHMP4A_ENST00000530996.1_Missense_Mutation_p.E67V			Q9BY43	CHM4A_HUMAN	charged multivesicular body protein 4A	172	Intramolecular interaction with N- terminus. {ECO:0000250}.				endosomal transport (GO:0016197)|membrane budding (GO:0006900)|membrane organization (GO:0061024)|membrane tubulation (GO:0097320)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9				GBM - Glioblastoma multiforme(265;0.0181)		CTGGGCCAATTCCTCCTGCTC	0.483																																						ENST00000556387.1																			0				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24						c.(514-516)gAa>gTa		transmembrane 9 superfamily member 1							191.0	204.0	199.0					14																	24679649		2203	4300	6503	SO:0001583	missense	10548				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		g.chr14:24679649T>A	AF212243	CCDS9619.1	14q12	2012-10-04	2011-09-21	2005-04-04	ENSG00000254505	ENSG00000254505		"""Charged multivesicular body proteins"""	20274	protein-coding gene	gene with protein product		610051	"""chromosome 14 open reading frame 123"", ""chromatin modifying protein 4A"""	C14orf123			Standard	NM_014169		Approved	HSPC134, VPS32A		Q9BY43	OTTHUMG00000167036	ENST00000609024.1:c.515A>T	14.37:g.24679649T>A	ENSP00000476412:p.Glu172Val					AL136419.6_ENST00000565988.1_RNA|CHMP4A_ENST00000542700.2_5'UTR|CHMP4A_ENST00000347519.6_Missense_Mutation_p.E215V|TM9SF1_ENST00000530611.1_Missense_Mutation_p.E172V	p.E172V			O15321	TM9S1_HUMAN		GBM - Glioblastoma multiforme(265;0.0183)	5	548	-			0					Q14D22|Q32Q79|Q86SZ8|Q96QJ9|Q9P026	Missense_Mutation	SNP	ENST00000609024.1	37	c.515A>T		.	.	.	.	.	.	.	.	.	.	T	13.78	2.340265	0.41398	.	.	ENSG00000100926;ENSG00000254692;ENSG00000254505;ENSG00000254505	ENST00000556387;ENST00000530611;ENST00000347519;ENST00000533011	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	5.46	5.46	0.80206	.	0.466636	0.18092	N	0.151978	T	0.73055	0.3538	M	0.67625	2.065	0.42957	D	0.994393	B;B	0.30605	0.287;0.032	B;B	0.37731	0.257;0.064	T	0.73773	-0.3877	10	0.54805	T	0.06	-3.4662	13.4758	0.61308	0.0:0.0:0.0:1.0	.	172;215	Q9BY43;Q14D22	CHM4A_HUMAN;.	V	172;172;215;182	ENSP00000451949:E172V;ENSP00000433967:E172V;ENSP00000324205:E215V;ENSP00000432575:E182V	ENSP00000324205:E215V	E	-	2	0	TM9SF1;AL096870.1;RP11-468E2.1	23749489	1.000000	0.71417	0.998000	0.56505	0.097000	0.18754	4.497000	0.60367	2.061000	0.61500	0.459000	0.35465	GAA		0.483	CHMP4A-012	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471846.1	NM_014169		106	141	0	0	0	1	0	106	141				
ADCK4	79934	broad.mit.edu	37	19	41220036	41220036	+	Silent	SNP	C	C	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr19:41220036C>G	ENST00000324464.3	-	4	526	c.225G>C	c.(223-225)ctG>ctC	p.L75L	ADCK4_ENST00000243583.6_Silent_p.L75L|ADCK4_ENST00000450541.1_Silent_p.L75L|ITPKC_ENST00000263370.2_5'Flank	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	75						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			AGCGGTCACTCAGCTGGGAAA	0.617																																						ENST00000324464.3																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17						c.(223-225)ctG>ctC		aarF domain containing kinase 4							80.0	74.0	76.0					19																	41220036		2203	4300	6503	SO:0001819	synonymous_variant	79934					integral to membrane	protein serine/threonine kinase activity	g.chr19:41220036C>G	AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.225G>C	19.37:g.41220036C>G						ADCK4_ENST00000243583.6_Silent_p.L75L|ADCK4_ENST00000450541.1_Silent_p.L75L	p.L75L	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)		4	526	-			75					Q8TAJ1|Q9HA52	Silent	SNP	ENST00000324464.3	37	c.225G>C	CCDS12562.1																																																																																				0.617	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	NM_024876		4	89	0	0	0	1	0	4	89				
LOC349160	349160	broad.mit.edu	37	7	136849062	136849062	+	RNA	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr7:136849062C>T	ENST00000439694.1	-	0	164				hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000599888.2_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000598184.1_RNA																							TAACGGATGACGTACGGGTTC	0.597																																						ENST00000439694.1																			0																																																			0							g.chr7:136849062C>T																													7.37:g.136849062C>T						AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000425981.2_RNA								0	164	-									RNA	SNP	ENST00000439694.1	37																																																																																						0.597	hsa-mir-490.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000341008.1			18	58	0	0	0	1	0	18	58				
CD3E	916	broad.mit.edu	37	11	118178014	118178014	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr11:118178014G>A	ENST00000361763.4	+	3	352	c.61G>A	c.(61-63)Ggg>Agg	p.G21R	CD3E_ENST00000528600.1_Missense_Mutation_p.G21R	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN	CD3e molecule, epsilon (CD3-TCR complex)	21					apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of smoothened signaling pathway (GO:0045879)|negative thymic T cell selection (GO:0045060)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell anergy (GO:0002669)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)|regulation of immune response (GO:0050776)|response to nutrient (GO:0007584)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)|SH3 domain binding (GO:0017124)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	TGGCGTTTGGGGGCAAGATGG	0.378																																						ENST00000361763.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8						c.(61-63)Ggg>Agg		CD3e molecule, epsilon (CD3-TCR complex)	Muromonab(DB00075)						125.0	110.0	115.0					11																	118178014		2200	4296	6496	SO:0001583	missense	916				G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity	g.chr11:118178014G>A	X03884	CCDS31685.1	11q23	2014-09-17	2006-03-28		ENSG00000198851	ENSG00000198851		"""CD molecules"""	1674	protein-coding gene	gene with protein product		186830	"""CD3e antigen, epsilon polypeptide (TiT3 complex)"""				Standard	NM_000733		Approved		uc001psq.4	P07766	OTTHUMG00000166968	ENST00000361763.4:c.61G>A	11.37:g.118178014G>A	ENSP00000354566:p.Gly21Arg					CD3E_ENST00000528600.1_Missense_Mutation_p.G21R	p.G21R	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	3	352	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	21					A8K997	Missense_Mutation	SNP	ENST00000361763.4	37	c.61G>A	CCDS31685.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867104	0.72065	.	.	ENSG00000198851	ENST00000361763;ENST00000528600	T	0.52057	0.68	4.95	4.95	0.65309	.	0.624957	0.15730	N	0.247449	T	0.69015	0.3064	M	0.78916	2.43	0.25340	N	0.988959	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.968	T	0.62124	-0.6920	10	0.66056	D	0.02	.	14.0553	0.64764	0.0:0.0:1.0:0.0	.	21;21	B4DVW0;P07766	.;CD3E_HUMAN	R	21	ENSP00000354566:G21R	ENSP00000354566:G21R	G	+	1	0	CD3E	117683224	1.000000	0.71417	0.972000	0.41901	0.083000	0.17756	4.044000	0.57361	2.437000	0.82529	0.655000	0.94253	GGG		0.378	CD3E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392120.1	NM_000733		13	9	0	0	0	1	0	13	9				
MFSD8	256471	broad.mit.edu	37	4	128878655	128878655	+	Splice_Site	SNP	C	C	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr4:128878655C>A	ENST00000296468.3	-	3	282		c.e3+1		MFSD8_ENST00000513559.1_Splice_Site|MFSD8_ENST00000515130.1_Splice_Site|MFSD8_ENST00000541133.1_Splice_Site	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8						cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						CTAATACTTACCTACACTGCT	0.299																																						ENST00000296468.3																			0				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						c.e3+1		major facilitator superfamily domain containing 8							85.0	93.0	90.0					4																	128878655		2201	4297	6498	SO:0001630	splice_region_variant	256471				cell death|transmembrane transport	integral to membrane|lysosomal membrane		g.chr4:128878655C>A	AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"""ceroid-lipofuscinosis, neuronal 7, late infantile, variant"""	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.154+1G>T	4.37:g.128878655C>A						MFSD8_ENST00000513559.1_Splice_Site|MFSD8_ENST00000541133.1_Splice_Site|MFSD8_ENST00000515130.1_Splice_Site		NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN			3	282	-								B2RDM1|B7Z205|Q8N2P3	Splice_Site	SNP	ENST00000296468.3	37		CCDS3736.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.236143	0.22626	.	.	ENSG00000164073	ENST00000296468;ENST00000513559;ENST00000541133	.	.	.	4.57	3.72	0.42706	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8591	0.52454	0.0:0.8237:0.1763:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MFSD8	129098105	1.000000	0.71417	0.996000	0.52242	0.267000	0.26476	4.631000	0.61304	1.120000	0.41904	0.655000	0.94253	.		0.299	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257097.1	NM_152778	Intron	13	33	1	0	5.50884e-06	1	5.9637e-06	13	33				
TMPRSS4	56649	broad.mit.edu	37	11	117969704	117969704	+	Silent	SNP	C	C	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr11:117969704C>G	ENST00000437212.3	+	3	262	c.48C>G	c.(46-48)gtC>gtG	p.V16V	TMPRSS4_ENST00000534111.1_Silent_p.V14V|TMPRSS4_ENST00000522307.1_5'UTR|TMPRSS4_ENST00000523251.1_Intron|TMPRSS4_ENST00000522824.1_Silent_p.V16V			Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	16					proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		TTGCAGATGTCAAACCCCTGC	0.557																																						ENST00000534111.1																			0				breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19						c.(40-42)gtC>gtG		transmembrane protease, serine 4							156.0	138.0	144.0					11																	117969704		2200	4296	6496	SO:0001819	synonymous_variant	56649				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:117969704C>G	AF179224	CCDS31684.1, CCDS44743.1, CCDS53716.1, CCDS53717.1	11q23.3	2010-04-13			ENSG00000137648	ENSG00000137648		"""Serine peptidases / Transmembrane"""	11878	protein-coding gene	gene with protein product	"""transmembrane serine protease 3"", ""membrane-type serine protease 2"", ""type II membrane serine protease"""	606565				10825129	Standard	NM_001083947		Approved	TMPRSS3, MT-SP2	uc021qrd.1	Q9NRS4	OTTHUMG00000164122	ENST00000437212.3:c.48C>G	11.37:g.117969704C>G						TMPRSS4_ENST00000522824.1_Silent_p.V16V|TMPRSS4_ENST00000522307.1_5'UTR|TMPRSS4_ENST00000437212.3_Silent_p.V16V|TMPRSS4_ENST00000523251.1_Intron	p.V14V	NM_001083947.1|NM_001173551.1|NM_019894.3	NP_001077416.1|NP_001167022.1|NP_063947.1	Q9NRS4	TMPS4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)	3	307	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)	16					A8MU84|B0YJB0|B7Z8C5|E7ERX8|Q5XKQ6|Q6UX37|Q9NZA5	Silent	SNP	ENST00000437212.3	37	c.42C>G	CCDS31684.1																																																																																				0.557	TMPRSS4-004	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377328.2	NM_019894		17	48	0	0	0	1	0	17	48				
DOPEY1	23033	broad.mit.edu	37	6	83846928	83846928	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr6:83846928G>T	ENST00000349129.2	+	21	3427	c.3167G>T	c.(3166-3168)gGt>gTt	p.G1056V	DOPEY1_ENST00000369739.3_Missense_Mutation_p.G1047V|DOPEY1_ENST00000237163.5_Missense_Mutation_p.G1037V	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1056					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AAAGGAAATGGTGAAAAGCCA	0.338																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(3166-3168)gGt>gTt		dopey family member 1							64.0	63.0	63.0					6																	83846928		2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83846928G>T	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.3167G>T	6.37:g.83846928G>T	ENSP00000195654:p.Gly1056Val					DOPEY1_ENST00000237163.5_Missense_Mutation_p.G1037V|DOPEY1_ENST00000369739.3_Missense_Mutation_p.G1047V	p.G1056V	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	21	3427	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	1056					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.3167G>T	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.695021	0.00731	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.21734	1.99;1.99	5.59	5.59	0.84812	.	0.326021	0.35585	N	0.003119	T	0.02571	0.0078	N	0.02011	-0.69	0.26269	N	0.97845	B;B;B	0.24823	0.112;0.003;0.003	B;B;B	0.21151	0.033;0.006;0.006	T	0.33445	-0.9868	10	0.28530	T	0.3	.	8.65	0.34029	0.1287:0.0:0.8713:0.0	.	947;1047;1056	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	V	1056;1037;1037	ENSP00000195654:G1056V;ENSP00000237163:G1037V	ENSP00000237163:G1037V	G	+	2	0	DOPEY1	83903647	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	2.844000	0.48246	2.638000	0.89438	0.460000	0.39030	GGT		0.338	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		9	47	1	0	0.00621372	1	0.00637581	9	47				
SORCS3	22986	broad.mit.edu	37	10	107007067	107007067	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr10:107007067T>A	ENST00000369701.3	+	22	3310	c.3083T>A	c.(3082-3084)gTc>gAc	p.V1028D	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1028					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ATTGGCAATGTCATCAAGCGA	0.393																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(3082-3084)gTc>gAc		sortilin-related VPS10 domain containing receptor 3							131.0	127.0	128.0					10																	107007067		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:107007067T>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.3083T>A	10.37:g.107007067T>A	ENSP00000358715:p.Val1028Asp					SORCS3_ENST00000369699.4_3'UTR	p.V1028D	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	22	3310	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	1028					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.3083T>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.795883	0.90453	.	.	ENSG00000156395	ENST00000369701	T	0.21543	2.0	5.5	5.5	0.81552	.	0.059907	0.64402	D	0.000003	T	0.49012	0.1532	M	0.81341	2.54	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.51371	-0.8714	9	.	.	.	.	15.8827	0.79216	0.0:0.0:0.0:1.0	.	1028	Q9UPU3	SORC3_HUMAN	D	1028	ENSP00000358715:V1028D	.	V	+	2	0	SORCS3	106997057	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.456000	0.80751	2.211000	0.71520	0.528000	0.53228	GTC		0.393	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		9	34	0	0	0	1	0	9	34				
FBXW7	55294	broad.mit.edu	37	4	153247366	153247366	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr4:153247366C>T	ENST00000281708.4	-	10	2665	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q	FBXW7_ENST00000296555.5_Missense_Mutation_p.R361Q|FBXW7_ENST00000393956.3_Missense_Mutation_p.R303Q|FBXW7_ENST00000263981.5_Missense_Mutation_p.R399Q|FBXW7_ENST00000603841.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000603548.1_Missense_Mutation_p.R479Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	479					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R479Q(29)|p.R479L(5)|p.R399Q(3)|p.R479P(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGTGGCATCTCGAGAACCGCT	0.403			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		47	Substitution - Missense(46)|Unknown(1)	p.R479Q(29)|p.R479L(5)|p.R399Q(3)|p.R479P(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1)	haematopoietic_and_lymphoid_tissue(16)|large_intestine(9)|endometrium(7)|urinary_tract(5)|upper_aerodigestive_tract(4)|lung(4)|stomach(1)|kidney(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1435-1437)cGa>cAa		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							85.0	80.0	82.0					4																	153247366		2203	4299	6502	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153247366C>T	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1436G>A	4.37:g.153247366C>T	ENSP00000281708:p.Arg479Gln					FBXW7_ENST00000603548.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000393956.3_Missense_Mutation_p.R303Q|FBXW7_ENST00000263981.5_Missense_Mutation_p.R399Q|FBXW7_ENST00000603841.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000296555.5_Missense_Mutation_p.R361Q	p.R479Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			10	2665	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	479					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1436G>A	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	33	5.283775	0.95489	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.50222	0.1603	N	0.12527	0.23	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.56529	-0.7964	10	0.56958	D	0.05	-12.7081	20.2406	0.98372	0.0:1.0:0.0:0.0	.	303;479;361;399	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	Q	479;361;399;303	ENSP00000281708:R479Q;ENSP00000296555:R361Q;ENSP00000263981:R399Q;ENSP00000377528:R303Q	ENSP00000263981:R399Q	R	-	2	0	FBXW7	153466816	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.715000	0.84713	2.857000	0.98124	0.650000	0.86243	CGA		0.403	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			53	46	0	0	0	1	0	53	46				
ROBO1	6091	broad.mit.edu	37	3	78683127	78683127	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr3:78683127C>T	ENST00000464233.1	-	24	3552	c.3439G>A	c.(3439-3441)Gga>Aga	p.G1147R	ROBO1_ENST00000467549.1_Missense_Mutation_p.G1047R|ROBO1_ENST00000436010.2_Missense_Mutation_p.G1108R|ROBO1_ENST00000495273.1_Missense_Mutation_p.G1102R	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1147					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TAGGATCCTCCTGTGTTCTGG	0.393																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(3322-3324)Gga>Aga		roundabout, axon guidance receptor, homolog 1 (Drosophila)							241.0	235.0	237.0					3																	78683127		1933	4137	6070	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78683127C>T	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.3439G>A	3.37:g.78683127C>T	ENSP00000420321:p.Gly1147Arg					ROBO1_ENST00000464233.1_Missense_Mutation_p.G1147R|ROBO1_ENST00000495273.1_Missense_Mutation_p.G1102R|ROBO1_ENST00000467549.1_Missense_Mutation_p.G1047R	p.G1108R			Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	22	4319	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1147					B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.3322G>A	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.343359	0.82022	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.93334	0.7875	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.967;1.0;1.0;0.981	D;P;D;D;P	0.97110	1.0;0.798;0.999;0.985;0.813	D	0.91849	0.5490	9	.	.	.	.	20.1001	0.97870	0.0:1.0:0.0:0.0	.	1111;1147;1102;1047;1108	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	R	1108;1102;1147;1102;1047;1151	ENSP00000406043:G1108R;ENSP00000420321:G1147R;ENSP00000420637:G1102R;ENSP00000417992:G1047R	.	G	-	1	0	ROBO1	78765817	1.000000	0.71417	0.998000	0.56505	0.365000	0.29674	5.737000	0.68606	2.760000	0.94817	0.655000	0.94253	GGA		0.393	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		14	32	0	0	0	1	0	14	32				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	18	0	0	0	1	0	3	18				
NOTCH4	4855	broad.mit.edu	37	6	32169084	32169084	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr6:32169084G>A	ENST00000375023.3	-	22	4087	c.3949C>T	c.(3949-3951)Cgg>Tgg	p.R1317W		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1317					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GACAGCACCCGGGCCAGGGCA	0.642																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(3949-3951)Cgg>Tgg		notch 4							40.0	45.0	43.0					6																	32169084		1510	2709	4219	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32169084G>A		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.3949C>T	6.37:g.32169084G>A	ENSP00000364163:p.Arg1317Trp						p.R1317W	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			22	4087	-			1317					B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.3949C>T	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.567889	0.65651	.	.	ENSG00000204301	ENST00000375023	D	0.84223	-1.82	4.37	4.37	0.52481	.	0.280219	0.19569	N	0.111132	D	0.85080	0.5615	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.87424	0.2384	10	0.87932	D	0	.	14.505	0.67746	0.0:0.0:1.0:0.0	.	1317	Q99466	NOTC4_HUMAN	W	1317	ENSP00000364163:R1317W	ENSP00000364163:R1317W	R	-	1	2	NOTCH4	32277062	1.000000	0.71417	0.997000	0.53966	0.814000	0.46013	4.471000	0.60182	2.298000	0.77334	0.456000	0.33151	CGG		0.642	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			17	85	0	0	0	1	0	17	85				
MUC16	94025	broad.mit.edu	37	19	9073782	9073782	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr19:9073782A>G	ENST00000397910.4	-	3	13867	c.13664T>C	c.(13663-13665)cTc>cCc	p.L4555P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4557	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTGACTGGGAGAGTGGAATG	0.493																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(13663-13665)cTc>cCc		mucin 16, cell surface associated							120.0	116.0	118.0					19																	9073782		2097	4213	6310	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9073782A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13664T>C	19.37:g.9073782A>G	ENSP00000381008:p.Leu4555Pro						p.L4555P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	13867	-			4557			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.13664T>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	1.506	-0.550663	0.03996	.	.	ENSG00000181143	ENST00000397910	T	0.22743	1.94	1.46	-0.821	0.10822	.	.	.	.	.	T	0.11665	0.0284	N	0.22421	0.69	.	.	.	D	0.53462	0.96	B	0.41332	0.354	T	0.19811	-1.0294	8	0.87932	D	0	.	4.2369	0.10630	0.5467:0.0:0.4533:0.0	.	4555	B5ME49	.	P	4555	ENSP00000381008:L4555P	ENSP00000381008:L4555P	L	-	2	0	MUC16	8934782	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-1.449000	0.02392	-0.345000	0.08325	0.260000	0.18958	CTC		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		13	18	0	0	0	1	0	13	18				
CREBBP	1387	broad.mit.edu	37	16	3778746	3778746	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr16:3778746A>G	ENST00000262367.5	-	31	7111	c.6302T>C	c.(6301-6303)aTc>aCc	p.I2101T	CREBBP_ENST00000382070.3_Missense_Mutation_p.I2063T	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2101					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCGCTGTTTGATGAAAGCTGC	0.612			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(6301-6303)aTc>aCc		CREB binding protein							107.0	119.0	115.0					16																	3778746		2197	4299	6496	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3778746A>G	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.6302T>C	16.37:g.3778746A>G	ENSP00000262367:p.Ile2101Thr					CREBBP_ENST00000382070.3_Missense_Mutation_p.I2063T	p.I2101T	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	31	7111	-		Ovarian(90;0.0266)	2101					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.6302T>C	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	a	10.45	1.354675	0.24512	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.87966	-2.32;-2.21	5.11	5.11	0.69529	Nuclear receptor coactivator, CREB-bp-like, interlocking (2);Nuclear receptor coactivator, interlocking (1);	0.000000	0.85682	D	0.000000	D	0.92557	0.7636	M	0.69523	2.12	0.80722	D	1	D;D	0.62365	0.991;0.991	D;D	0.78314	0.991;0.991	D	0.93196	0.6587	10	0.62326	D	0.03	-21.4476	14.9202	0.70832	1.0:0.0:0.0:0.0	.	2131;2101	Q4LE28;Q92793	.;CBP_HUMAN	T	2101;2131;2063;636	ENSP00000262367:I2101T;ENSP00000371502:I2063T	ENSP00000262367:I2101T	I	-	2	0	CREBBP	3718747	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.325000	0.96381	1.934000	0.56057	0.533000	0.62120	ATC		0.612	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		195	20	0	0	0	1	0	195	20				
ADAMTS3	9508	broad.mit.edu	37	4	73188778	73188778	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr4:73188778G>A	ENST00000286657.4	-	6	934	c.898C>T	c.(898-900)Cat>Tat	p.H300Y	RP11-373J21.1_ENST00000503918.1_RNA	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	300	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACATTTATATGCACTCCGAGG	0.363																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(898-900)Cat>Tat		ADAM metallopeptidase with thrombospondin type 1 motif, 3							180.0	180.0	180.0					4																	73188778		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73188778G>A	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.898C>T	4.37:g.73188778G>A	ENSP00000286657:p.His300Tyr					RP11-373J21.1_ENST00000503918.1_RNA	p.H300Y	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		6	934	-			300			Peptidase M12B.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.898C>T	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482088	0.84747	.	.	ENSG00000156140	ENST00000286657	D	0.86627	-2.15	6.06	6.06	0.98353	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.90618	0.7058	L	0.42245	1.32	0.58432	D	0.999994	D	0.89917	1.0	D	0.78314	0.991	D	0.85173	0.0999	10	0.10902	T	0.67	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	300	O15072	ATS3_HUMAN	Y	300	ENSP00000286657:H300Y	ENSP00000286657:H300Y	H	-	1	0	ADAMTS3	73407642	1.000000	0.71417	0.988000	0.46212	0.996000	0.88848	7.289000	0.78701	2.882000	0.98803	0.655000	0.94253	CAT		0.363	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			36	122	0	0	0	1	0	36	122				
DCT	1638	broad.mit.edu	37	13	95114274	95114274	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr13:95114274A>T	ENST00000377028.5	-	5	1446	c.1033T>A	c.(1033-1035)Ttc>Atc	p.F345I	DCT_ENST00000446125.1_Missense_Mutation_p.F345I|DCT_ENST00000490854.1_5'Flank	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	345					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		CTGAAACTGAAGGTAGAGTTC	0.458																																						ENST00000377028.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50						c.(1033-1035)Ttc>Atc		dopachrome tautomerase							98.0	94.0	95.0					13																	95114274		2203	4300	6503	SO:0001583	missense	1638				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	g.chr13:95114274A>T	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.1033T>A	13.37:g.95114274A>T	ENSP00000366227:p.Phe345Ile					DCT_ENST00000446125.1_Missense_Mutation_p.F345I	p.F345I	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)	5	1446	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)	345					Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	c.1033T>A	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	a	15.18	2.758128	0.49468	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.98807	-5.15;-5.15	5.52	4.35	0.52113	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.046250	0.85682	D	0.000000	D	0.98473	0.9491	M	0.87180	2.865	0.54753	D	0.999988	B;B	0.34241	0.444;0.394	P;B	0.45577	0.486;0.205	D	0.97754	1.0216	10	0.21540	T	0.41	-14.4571	11.3477	0.49569	0.9289:0.0:0.0711:0.0	.	345;345	Q09GT4;P40126	.;TYRP2_HUMAN	I	345	ENSP00000366227:F345I;ENSP00000392762:F345I	ENSP00000366227:F345I	F	-	1	0	DCT	93912275	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.952000	0.75989	0.952000	0.37798	0.454000	0.30748	TTC		0.458	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			11	25	0	0	0	1	0	11	25				
DEPDC5	9681	broad.mit.edu	37	22	32232998	32232998	+	Silent	SNP	T	T	C			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr22:32232998T>C	ENST00000382112.3	+	25	2254	c.2184T>C	c.(2182-2184)tgT>tgC	p.C728C	DEPDC5_ENST00000382105.2_Silent_p.C659C|DEPDC5_ENST00000400249.2_Silent_p.C728C|DEPDC5_ENST00000266091.3_Silent_p.C737C|DEPDC5_ENST00000382111.2_Silent_p.C737C|DEPDC5_ENST00000400248.2_Silent_p.C728C|DEPDC5_ENST00000400246.1_Silent_p.C737C|RNU6-201P_ENST00000517100.1_RNA|DEPDC5_ENST00000535622.1_Silent_p.C659C	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	737					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CAGGCTTCTGTTGCACAGTTG	0.577																																						ENST00000400246.1																			0				breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(2209-2211)tgT>tgC		DEP domain containing 5							123.0	116.0	118.0					22																	32232998		2034	4180	6214	SO:0001819	synonymous_variant	9681				intracellular signal transduction			g.chr22:32232998T>C	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.2184T>C	22.37:g.32232998T>C						DEPDC5_ENST00000382105.2_Silent_p.C659C|DEPDC5_ENST00000382112.3_Silent_p.C728C|DEPDC5_ENST00000382111.2_Silent_p.C737C|DEPDC5_ENST00000400249.2_Silent_p.C728C|DEPDC5_ENST00000400248.1_Silent_p.C728C|DEPDC5_ENST00000266091.3_Silent_p.C737C|DEPDC5_ENST00000535622.1_Silent_p.C659C	p.C737C			O75140	DEPD5_HUMAN			26	2353	+			728					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Silent	SNP	ENST00000382112.3	37	c.2211T>C	CCDS46692.1																																																																																				0.577	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		30	36	0	0	0	1	0	30	36				
CPOX	1371	broad.mit.edu	37	3	98304286	98304286	+	Splice_Site	SNP	G	G	C	rs375923779		TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr3:98304286G>C	ENST00000264193.2	-	5	1389	c.1171C>G	c.(1171-1173)Cgg>Ggg	p.R391G		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	391					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to arsenic-containing substance (GO:0046685)|response to insecticide (GO:0017085)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to methylmercury (GO:0051597)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	coproporphyrinogen oxidase activity (GO:0004109)|protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GTCACTTACCGTCCTCTTCTG	0.478																																					Esophageal Squamous(75;7 1223 22300 43648 48951)	ENST00000264193.2																			0				endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16	GRCh37	CM011765	CPOX	M		c.e5+1		coproporphyrinogen oxidase							137.0	151.0	146.0					3																	98304286		2203	4300	6503	SO:0001630	splice_region_variant	1371					mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity	g.chr3:98304286G>C	BC017210	CCDS2932.1	3q12	2012-10-02		2004-01-30		ENSG00000080819	1.3.3.3		2321	protein-coding gene	gene with protein product	"""coproporphyria"""	612732	"""coproporphyrinogen oxidase (coproporphyria, harderoporphyria)"""	CPO		7757079, 8407975	Standard	NM_000097		Approved	CPX, HCP	uc003dsx.3	P36551		ENST00000264193.2:c.1172+1C>G	3.37:g.98304286G>C							p.R391_splice	NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN			5	1389	-			391					A8K275|B4DSD5|Q14060|Q53F08|Q8IZ45|Q96AF3	Splice_Site	SNP	ENST00000264193.2	37	c.1172_splice	CCDS2932.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.876437	0.72180	.	.	ENSG00000080819	ENST00000264193	D	0.95205	-3.64	5.9	3.93	0.45458	.	0.000000	0.85682	D	0.000000	D	0.98538	0.9512	H	0.99689	4.705	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98556	1.0639	10	0.87932	D	0	-19.9844	12.7786	0.57464	0.0:0.0:0.6607:0.3393	.	391	P36551	HEM6_HUMAN	G	391	ENSP00000264193:R391G	ENSP00000264193:R391G	R	-	1	2	CPOX	99786976	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.602000	0.46257	1.479000	0.48272	0.655000	0.94253	CGG		0.478	CPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358900.1	NM_000097	Missense_Mutation	47	144	0	0	0	1	0	47	144				
SLC35G3	146861	broad.mit.edu	37	17	33521054	33521054	+	Silent	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr17:33521054G>A	ENST00000297307.5	-	1	358	c.273C>T	c.(271-273)ggC>ggT	p.G91G	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	91	EamA 1.					integral component of membrane (GO:0016021)											GAAGGGGGTCGCCACGCAGTT	0.587																																						ENST00000297307.5																			0											c.(271-273)ggC>ggT		solute carrier family 35, member G3							139.0	145.0	143.0					17																	33521054		2203	4300	6503	SO:0001819	synonymous_variant	146861					integral to membrane		g.chr17:33521054G>A	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.273C>T	17.37:g.33521054G>A							p.G91G	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	358	-			91			DUF6 1.		B9EGE9	Silent	SNP	ENST00000297307.5	37	c.273C>T	CCDS11293.1																																																																																				0.587	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		123	13	0	0	0	1	0	123	13				
LRRCC1	85444	broad.mit.edu	37	8	86038971	86038971	+	Silent	SNP	T	T	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr8:86038971T>G	ENST00000360375.3	+	9	1469	c.1320T>G	c.(1318-1320)gcT>gcG	p.A440A	LRRCC1_ENST00000414626.2_Silent_p.A420A	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	440					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GATGGAGAGCTGAGCAAGCCG	0.373																																						ENST00000414626.2																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						c.(1258-1260)gcT>gcG		leucine rich repeat and coiled-coil centrosomal protein 1							74.0	72.0	73.0					8																	86038971		1870	4107	5977	SO:0001819	synonymous_variant	85444				cell division|mitosis	centriole|nucleus		g.chr8:86038971T>G	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.1320T>G	8.37:g.86038971T>G						LRRCC1_ENST00000360375.3_Silent_p.A440A	p.A420A			Q9C099	LRCC1_HUMAN			8	2149	+			440					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Silent	SNP	ENST00000360375.3	37	c.1260T>G	CCDS43750.1																																																																																				0.373	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		13	24	0	0	0	1	0	13	24				
STAG1	10274	broad.mit.edu	37	3	136342011	136342011	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr3:136342011T>C	ENST00000383202.2	-	3	365	c.109A>G	c.(109-111)Agg>Ggg	p.R37G	STAG1_ENST00000480733.1_Missense_Mutation_p.R37G|STAG1_ENST00000236698.5_Missense_Mutation_p.R37G|STAG1_ENST00000434713.2_5'UTR	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	37					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GGACGACCCCTTTTTCTTTTT	0.388																																						ENST00000383202.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(109-111)Agg>Ggg		stromal antigen 1							127.0	139.0	135.0					3																	136342011		2203	4300	6503	SO:0001583	missense	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136342011T>C	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.109A>G	3.37:g.136342011T>C	ENSP00000372689:p.Arg37Gly					STAG1_ENST00000236698.5_Missense_Mutation_p.R37G|STAG1_ENST00000434713.2_5'UTR|STAG1_ENST00000480733.1_Missense_Mutation_p.R37G	p.R37G	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN			3	365	-			37					O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	37	c.109A>G	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	t	16.92	3.254117	0.59212	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000480733	T;T	0.25912	1.78;1.77	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.25306	0.0615	L	0.38531	1.155	0.80722	D	1	P;P;B	0.43477	0.808;0.717;0.01	B;P;B	0.45377	0.223;0.478;0.006	T	0.01661	-1.1301	10	0.30078	T	0.28	.	12.4866	0.55877	0.0:0.0:0.0:1.0	.	37;37;37	C9JJQ0;Q6P275;Q8WVM7	.;.;STAG1_HUMAN	G	37	ENSP00000372689:R37G;ENSP00000236698:R37G	ENSP00000236698:R37G	R	-	1	2	STAG1	137824701	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.316000	0.51960	2.179000	0.69175	0.460000	0.39030	AGG		0.388	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		4	207	0	0	0	1	0	4	207				
CCDC39	339829	broad.mit.edu	37	3	180337633	180337633	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr3:180337633A>T	ENST00000442201.2	-	15	2243	c.2124T>A	c.(2122-2124)aaT>aaA	p.N708K	CCDC39_ENST00000273654.4_Intron	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	708					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ATTGCTTATAATTGTTGTTAC	0.338																																						ENST00000442201.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(2122-2124)aaT>aaA		coiled-coil domain containing 39							94.0	83.0	86.0					3																	180337633		1798	4075	5873	SO:0001583	missense	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180337633A>T	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.2124T>A	3.37:g.180337633A>T	ENSP00000405708:p.Asn708Lys					CCDC39_ENST00000273654.4_Intron	p.N708K	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		15	2243	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		708					B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	c.2124T>A	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	A	2.191	-0.385310	0.04966	.	.	ENSG00000145075	ENST00000442201	T	0.78246	-1.16	5.55	-3.28	0.05033	.	.	.	.	.	T	0.61035	0.2315	L	0.43757	1.38	0.80722	D	1	B	0.22909	0.077	B	0.15052	0.012	T	0.49570	-0.8926	9	0.07644	T	0.81	.	9.3679	0.38237	0.4889:0.1004:0.4107:0.0	.	708	Q9UFE4	CCD39_HUMAN	K	708	ENSP00000405708:N708K	ENSP00000405708:N708K	N	-	3	2	CCDC39	181820327	0.930000	0.31532	0.801000	0.32222	0.326000	0.28443	0.062000	0.14389	-0.446000	0.07149	-1.232000	0.01568	AAT		0.338	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		4	16	0	0	0	1	0	4	16				
ZNF33B	7582	broad.mit.edu	37	10	43088129	43088129	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr10:43088129T>G	ENST00000359467.3	-	5	2383	c.2269A>C	c.(2269-2271)Acc>Ccc	p.T757P	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	757					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TGAGAGAAGGTTTTCCTGCAT	0.358																																					Melanoma(137;1247 1767 16772 25727 43810)	ENST00000359467.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						c.(2269-2271)Acc>Ccc		zinc finger protein 33B							151.0	146.0	147.0					10																	43088129		2203	4300	6503	SO:0001583	missense	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43088129T>G	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.2269A>C	10.37:g.43088129T>G	ENSP00000352444:p.Thr757Pro					ZNF33B_ENST00000486187.1_RNA	p.T757P	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN			5	2383	-			757					Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	37	c.2269A>C	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	T	10.33	1.320645	0.23994	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.21031	2.03	2.5	1.31	0.21738	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.229512	0.22424	N	0.060257	T	0.33469	0.0864	M	0.64404	1.975	0.22066	N	0.999384	D	0.76494	0.999	D	0.71184	0.972	T	0.09250	-1.0683	10	0.66056	D	0.02	.	2.9351	0.05811	0.0:0.1463:0.2648:0.5889	.	757	Q06732	ZN33B_HUMAN	P	757;723	ENSP00000352444:T757P	ENSP00000352444:T757P	T	-	1	0	ZNF33B	42408135	0.000000	0.05858	0.976000	0.42696	0.526000	0.34562	-1.626000	0.02035	0.360000	0.24265	0.336000	0.21669	ACC		0.358	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		27	116	0	0	0	1	0	27	116				
ATP4A	495	broad.mit.edu	37	19	36044045	36044045	+	Missense_Mutation	SNP	G	G	A	rs550481947		TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr19:36044045G>A	ENST00000262623.3	-	18	2673	c.2645C>T	c.(2644-2646)aCg>aTg	p.T882M		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	882					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GGCCATTGCCGTGAAGTAGTC	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		22226	0.001		0.0	False		,,,				2504	0.0					ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(2644-2646)aCg>aTg		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						83.0	81.0	82.0					19																	36044045		2203	4300	6503	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36044045G>A		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2645C>T	19.37:g.36044045G>A	ENSP00000262623:p.Thr882Met						p.T882M	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		18	2673	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		882					O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.2645C>T	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596685	0.66332	.	.	ENSG00000105675	ENST00000262623	D	0.88664	-2.41	4.61	4.61	0.57282	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.071986	0.53938	D	0.000046	D	0.93409	0.7898	M	0.69823	2.125	0.40751	D	0.982918	D	0.89917	1.0	D	0.75484	0.986	D	0.93818	0.7116	10	0.52906	T	0.07	.	14.9885	0.71368	0.0:0.0:1.0:0.0	.	882	P20648	ATP4A_HUMAN	M	882	ENSP00000262623:T882M	ENSP00000262623:T882M	T	-	2	0	ATP4A	40735885	0.939000	0.31865	0.994000	0.49952	0.991000	0.79684	1.839000	0.39220	2.377000	0.81083	0.555000	0.69702	ACG		0.602	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		4	132	0	0	0	1	0	4	132				
PTPRM	5797	broad.mit.edu	37	18	8380347	8380347	+	Silent	SNP	A	A	C			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr18:8380347A>C	ENST00000332175.8	+	27	4838	c.3801A>C	c.(3799-3801)acA>acC	p.T1267T	PTPRM_ENST00000400060.4_Silent_p.T1281T|PTPRM_ENST00000400053.4_Silent_p.T1205T|PTPRM_ENST00000444013.1_Silent_p.T1054T|PTPRM_ENST00000580170.1_Silent_p.T1280T	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1267	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TGCCAAACACAGTGAAAGACT	0.443																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(3799-3801)acA>acC		protein tyrosine phosphatase, receptor type, M							106.0	95.0	99.0					18																	8380347		2203	4300	6503	SO:0001819	synonymous_variant	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8380347A>C	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.3801A>C	18.37:g.8380347A>C						PTPRM_ENST00000444013.1_Silent_p.T1054T|PTPRM_ENST00000400053.4_Silent_p.T1205T|PTPRM_ENST00000400060.4_Silent_p.T1281T|PTPRM_ENST00000580170.1_Silent_p.T1280T	p.T1267T	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			27	4838	+		Colorectal(10;0.234)	1267			Tyrosine-protein phosphatase 2.		A7MBN1|D3DUH8|J3QL11	Silent	SNP	ENST00000332175.8	37	c.3801A>C	CCDS11840.1																																																																																				0.443	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			16	84	0	0	0	1	0	16	84				
LINGO4	339398	broad.mit.edu	37	1	151774911	151774911	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr1:151774911G>T	ENST00000368820.3	-	2	1207	c.270C>A	c.(268-270)gaC>gaA	p.D90E		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	90						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGTAGCTGAGGTCCAATTCCT	0.612																																						ENST00000368820.3																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(268-270)gaC>gaA		leucine rich repeat and Ig domain containing 4							75.0	66.0	69.0					1																	151774911		2203	4300	6503	SO:0001583	missense	339398					integral to membrane		g.chr1:151774911G>T		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.270C>A	1.37:g.151774911G>T	ENSP00000357810:p.Asp90Glu						p.D90E	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	1207	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		90						Missense_Mutation	SNP	ENST00000368820.3	37	c.270C>A	CCDS30855.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.160415	0.38119	.	.	ENSG00000213171	ENST00000368820	T	0.60797	0.16	5.28	1.1	0.20463	.	0.000000	0.50627	D	0.000104	T	0.57533	0.2060	M	0.79123	2.44	0.48452	D	0.999656	D	0.55605	0.972	P	0.58266	0.836	T	0.58858	-0.7562	10	0.36615	T	0.2	.	10.7923	0.46440	0.3253:0.0:0.6747:0.0	.	90	Q6UY18	LIGO4_HUMAN	E	90	ENSP00000357810:D90E	ENSP00000357810:D90E	D	-	3	2	LINGO4	150041535	1.000000	0.71417	0.999000	0.59377	0.885000	0.51271	1.177000	0.31969	0.117000	0.18138	-1.644000	0.00765	GAC		0.612	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		10	68	1	0	0.00621372	1	0.00637581	10	68				
MCM3	4172	broad.mit.edu	37	6	52143605	52143605	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr6:52143605C>A	ENST00000229854.7	-	6	890	c.814G>T	c.(814-816)Gct>Tct	p.A272S	MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000419835.2_Missense_Mutation_p.A226S|MCM3_ENST00000596288.1_Missense_Mutation_p.A317S			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	272					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GAGGGCTGAGCATCCTTGCTC	0.438																																						ENST00000596288.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(949-951)Gct>Tct		minichromosome maintenance complex component 3							94.0	91.0	92.0					6																	52143605		2203	4300	6503	SO:0001583	missense	4172				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr6:52143605C>A	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"""minichromosome maintenance deficient (S. cerevisiae) 3"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"""			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.814G>T	6.37:g.52143605C>A	ENSP00000229854:p.Ala272Ser					MCM3_ENST00000419835.2_Missense_Mutation_p.A226S|MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000229854.7_Missense_Mutation_p.A272S	p.A317S	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN			6	976	-	Lung NSC(77;0.0931)		272			MCM.		B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP	ENST00000229854.7	37	c.949G>T		.	.	.	.	.	.	.	.	.	.	C	10.97	1.502011	0.26949	.	.	ENSG00000112118	ENST00000229854;ENST00000419835	T;T	0.02606	4.31;4.23	5.55	-2.3	0.06785	.	0.743115	0.13433	N	0.388258	T	0.00552	0.0018	N	0.16368	0.405	0.09310	N	0.999999	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.42344	-0.9457	10	0.33141	T	0.24	-0.6378	6.2722	0.20961	0.0:0.3651:0.2147:0.4202	.	226;272	B4DUQ9;P25205	.;MCM3_HUMAN	S	272;226	ENSP00000229854:A272S;ENSP00000388647:A226S	ENSP00000229854:A272S	A	-	1	0	MCM3	52251564	0.000000	0.05858	0.084000	0.20598	0.953000	0.61014	-0.230000	0.09083	-0.673000	0.05259	0.655000	0.94253	GCT		0.438	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1			10	109	1	0	0.0581538	1	0.0591564	10	109				
PLCL1	5334	broad.mit.edu	37	2	198949947	198949947	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr2:198949947C>T	ENST00000428675.1	+	2	2104	c.1706C>T	c.(1705-1707)tCg>tTg	p.S569L	PLCL1_ENST00000437704.2_Missense_Mutation_p.S471L	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	569					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CGAAGGATGTCGGTAGATTAC	0.398																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(1705-1707)tCg>tTg		phospholipase C-like 1	Quinacrine(DB01103)						84.0	83.0	83.0					2																	198949947		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198949947C>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1706C>T	2.37:g.198949947C>T	ENSP00000402861:p.Ser569Leu					PLCL1_ENST00000437704.2_Missense_Mutation_p.S471L	p.S569L	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	2104	+			569					Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.1706C>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	C	11.45	1.642803	0.29246	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.50813	0.73;0.73	5.51	5.51	0.81932	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.350526	0.24952	N	0.034285	T	0.37376	0.1001	L	0.40543	1.245	0.58432	D	0.999994	P;P	0.43701	0.815;0.815	B;B	0.30401	0.115;0.115	T	0.24297	-1.0164	9	.	.	.	.	19.614	0.95622	0.0:1.0:0.0:0.0	.	569;495	Q15111;B4DYZ4	PLCL1_HUMAN;.	L	569;471	ENSP00000402861:S569L;ENSP00000414138:S471L	.	S	+	2	0	PLCL1	198658192	1.000000	0.71417	0.986000	0.45419	0.752000	0.42762	3.724000	0.54962	2.873000	0.98535	0.561000	0.74099	TCG		0.398	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		21	45	0	0	0	1	0	21	45				
SUPT5H	6829	broad.mit.edu	37	19	39962347	39962347	+	Silent	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr19:39962347C>T	ENST00000599117.1	+	21	2294	c.1927C>T	c.(1927-1929)Ctg>Ttg	p.L643L	SUPT5H_ENST00000598725.1_Silent_p.L643L|SUPT5H_ENST00000432763.2_Silent_p.L643L|SUPT5H_ENST00000359191.6_Silent_p.L639L|SUPT5H_ENST00000402194.2_Silent_p.L639L			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	643					7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GACCCGCCACCTGGTGCTGGC	0.602																																						ENST00000599117.1																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51						c.(1927-1929)Ctg>Ttg		suppressor of Ty 5 homolog (S. cerevisiae)							39.0	42.0	41.0					19																	39962347		2202	4300	6502	SO:0001819	synonymous_variant	6829				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	g.chr19:39962347C>T	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.1927C>T	19.37:g.39962347C>T						SUPT5H_ENST00000359191.6_Silent_p.L639L|SUPT5H_ENST00000402194.2_Silent_p.L639L|SUPT5H_ENST00000598725.1_Silent_p.L643L|SUPT5H_ENST00000432763.2_Silent_p.L643L	p.L643L			O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		21	2294	+	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		643					O43279|Q59G52|Q99639	Silent	SNP	ENST00000599117.1	37	c.1927C>T	CCDS12536.1																																																																																				0.602	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		10	47	0	0	0	1	0	10	47				
METTL21B	25895	broad.mit.edu	37	12	58177020	58177020	+	IGR	SNP	T	T	C			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr12:58177020T>C	ENST00000300209.8	+	0	2563				TSFM_ENST00000323833.8_Missense_Mutation_p.V62A|TSFM_ENST00000454289.3_Missense_Mutation_p.V62A|TSFM_ENST00000548851.1_Missense_Mutation_p.V62A|RP11-571M6.15_ENST00000553083.1_3'UTR|TSFM_ENST00000350762.5_5'UTR|TSFM_ENST00000543727.1_Missense_Mutation_p.V62A|TSFM_ENST00000497617.1_3'UTR|TSFM_ENST00000550559.1_Missense_Mutation_p.V62A|TSFM_ENST00000540550.1_Missense_Mutation_p.V62A|RP11-571M6.15_ENST00000471530.1_Nonstop_Mutation_p.*77Q	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B							cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)			endometrium(1)|lung(1)	2						TACTCCTTTGTAAATTGCAAG	0.567											OREG0021954	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000471530.1																			0											c.(229-231)Taa>Caa									103.0	115.0	111.0					12																	58177020		2203	4300	6503	SO:0001628	intergenic_variant	0							g.chr12:58177020T>C	AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"""family with sequence similarity 119, member B"""	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459		12.37:g.58177020T>C			OREG0021954	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1028	TSFM_ENST00000548851.1_Missense_Mutation_p.V62A|TSFM_ENST00000543727.1_Missense_Mutation_p.V62A|TSFM_ENST00000350762.5_5'UTR|TSFM_ENST00000454289.3_Missense_Mutation_p.V62A|TSFM_ENST00000550559.1_Missense_Mutation_p.V62A|TSFM_ENST00000540550.1_Missense_Mutation_p.V62A|TSFM_ENST00000323833.8_Missense_Mutation_p.V62A|TSFM_ENST00000497617.1_3'UTR|RP11-571M6.15_ENST00000553083.1_3'UTR	p.*77Q							2	229	+								Q9H749|Q9Y3W2	Nonstop_Mutation	SNP	ENST00000300209.8	37	c.229T>C	CCDS8957.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.417691	0.83449	.	.	ENSG00000123297	ENST00000454289;ENST00000543727;ENST00000540550;ENST00000323833;ENST00000550559;ENST00000548851;ENST00000434359;ENST00000457189	T;T;T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01	5.29	4.14	0.48551	Translation elongation factor Ts, conserved site (1);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);UBA-like (1);	0.313338	0.32901	N	0.005502	T	0.15782	0.0380	L	0.37466	1.105	0.80722	D	1	B;B;B	0.20459	0.045;0.012;0.018	B;B;B	0.25405	0.06;0.026;0.036	T	0.06232	-1.0838	10	0.16896	T	0.51	.	10.0873	0.42425	0.0:0.0907:0.0:0.9093	.	62;62;62	B4E391;P43897;P43897-2	.;EFTS_HUMAN;.	A	62;62;62;62;62;62;12;12	ENSP00000388330:V62A;ENSP00000439342:V62A;ENSP00000440987:V62A;ENSP00000313877:V62A;ENSP00000448575:V62A;ENSP00000450041:V62A;ENSP00000390679:V12A;ENSP00000389162:V12A	ENSP00000313877:V62A	V	+	2	0	TSFM	56463287	0.998000	0.40836	0.997000	0.53966	0.904000	0.53231	3.205000	0.51090	2.221000	0.72209	0.379000	0.24179	GTA		0.567	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409268.1	NM_015433		59	101	0	0	0	1	0	59	101				
RTL1	388015	broad.mit.edu	37	14	101349485	101349485	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr14:101349485G>C	ENST00000534062.1	-	1	1699	c.1641C>G	c.(1639-1641)caC>caG	p.H547Q	MIR431_ENST00000385266.1_RNA|MIR433_ENST00000384837.1_RNA|MIR136_ENST00000385207.1_RNA|MIR127_ENST00000384876.1_RNA|MIR432_ENST00000606207.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	547					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GGCTCATGCCGTGCCTCTCTA	0.602																																						ENST00000534062.1																			0				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						c.(1639-1641)caC>caG		retrotransposon-like 1							41.0	41.0	41.0					14																	101349485		692	1591	2283	SO:0001583	missense	388015							g.chr14:101349485G>C		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.1641C>G	14.37:g.101349485G>C	ENSP00000435342:p.His547Gln						p.H547Q	NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN			1	1699	-			547					E9PKS8	Missense_Mutation	SNP	ENST00000534062.1	37	c.1641C>G	CCDS53910.1	.	.	.	.	.	.	.	.	.	.	G	6.901	0.535722	0.13188	.	.	ENSG00000254656	ENST00000534062	T	0.22945	1.93	3.8	-0.885	0.10593	.	0.245044	0.21390	N	0.075323	T	0.15912	0.0383	M	0.64170	1.965	0.09310	N	1	B	0.26147	0.143	B	0.17433	0.018	T	0.22556	-1.0213	10	0.12766	T	0.61	.	1.1949	0.01873	0.2042:0.3055:0.3356:0.1547	.	547	E9PKS8	.	Q	547	ENSP00000435342:H547Q	ENSP00000435342:H547Q	H	-	3	2	RTL1	100419238	0.000000	0.05858	0.008000	0.14137	0.812000	0.45895	-1.989000	0.01480	-0.146000	0.11274	0.655000	0.94253	CAC		0.602	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		8	1	0	0	0	1	0	8	1				
ZSWIM8	23053	broad.mit.edu	37	10	75554072	75554072	+	Silent	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr10:75554072C>T	ENST00000605216.1	+	13	3010	c.2793C>T	c.(2791-2793)gaC>gaT	p.D931D	ZSWIM8_ENST00000604729.1_Silent_p.D931D|ZSWIM8_ENST00000398706.2_Silent_p.D931D|ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000604524.1_Silent_p.D931D|ZSWIM8_ENST00000603114.1_Silent_p.D898D|ZSWIM8-AS1_ENST00000456638.2_RNA	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	931							zinc ion binding (GO:0008270)										TCATCTTTGACGTTCTCTGTG	0.537																																						ENST00000604729.1																			0											c.(2791-2793)gaC>gaT		zinc finger, SWIM-type containing 8							179.0	186.0	184.0					10																	75554072		2049	4197	6246	SO:0001819	synonymous_variant	23053							g.chr10:75554072C>T	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.2793C>T	10.37:g.75554072C>T						ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000603114.1_Silent_p.D898D|ZSWIM8_ENST00000605216.1_Silent_p.D931D|ZSWIM8_ENST00000604524.1_Silent_p.D931D|ZSWIM8_ENST00000398706.2_Silent_p.D931D	p.D931D							13	3090	+								B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Silent	SNP	ENST00000605216.1	37	c.2793C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.502|5.502	0.277650|0.277650	0.10403|0.10403	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000433366|ENST00000431225;ENST00000412198;ENST00000425051	.|.	.|.	.|.	5.37|5.37	0.0553|0.0553	0.14314|0.14314	.|.	.|.	.|.	.|.	.|.	T|T	0.57154|0.57154	0.2034|0.2034	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.50303|0.50303	-0.8844|-0.8844	4|4	.|.	.|.	.|.	-7.2736|-7.2736	9.5923|9.5923	0.39554|0.39554	0.0:0.2679:0.0:0.7321|0.0:0.2679:0.0:0.7321	.|.	.|.	.|.	.|.	C|M	647|428;201;110	.|.	.|.	R|T	+|+	1|2	0|0	KIAA0913|KIAA0913	75224078|75224078	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.993000|0.993000	0.82548|0.82548	0.753000|0.753000	0.26376|0.26376	-0.118000|-0.118000	0.11851|0.11851	-0.145000|-0.145000	0.13849|0.13849	CGT|ACG		0.537	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		110	43	0	0	0	1	0	110	43				
GAREM	64762	broad.mit.edu	37	18	29850241	29850241	+	Missense_Mutation	SNP	G	G	A	rs144218911	byFrequency	TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr18:29850241G>A	ENST00000269209.6	-	5	1675	c.1672C>T	c.(1672-1674)Cgg>Tgg	p.R558W	GAREM_ENST00000399218.4_Missense_Mutation_p.R558W			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	558	Pro-rich.				cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										GTCTGTTGCCGCGCTGGCTTG	0.582																																						ENST00000399218.4																			0											c.(1672-1674)Cgg>Tgg		GRB2 associated, regulator of MAPK1		G	TRP/ARG,TRP/ARG	6,4400	9.9+/-24.2	0,6,2197	155.0	129.0	138.0		1672,1672	4.2	1.0	18	dbSNP_134	138	0,8600		0,0,4300	yes	missense,missense	FAM59A	NM_001242409.1,NM_022751.2	101,101	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	probably-damaging,probably-damaging	558/877,558/876	29850241	6,13000	2203	4300	6503	SO:0001583	missense	64762							g.chr18:29850241G>A	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.1672C>T	18.37:g.29850241G>A	ENSP00000269209:p.Arg558Trp					GAREM_ENST00000269209.6_Missense_Mutation_p.R558W	p.R558W	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1					5	1727	-								Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	ENST00000269209.6	37	c.1672C>T	CCDS56057.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293489	0.80914	0.001362	0.0	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.52295	0.67;0.67	5.18	4.22	0.49857	.	0.058749	0.64402	D	0.000002	T	0.57330	0.2046	L	0.32530	0.975	0.47862	D	0.999539	D;D	0.89917	1.0;1.0	D;D	0.68483	0.936;0.958	T	0.61992	-0.6948	10	0.66056	D	0.02	-15.6533	16.4273	0.83818	0.0:0.0:0.8595:0.1405	.	558;558	Q9H706;Q9H706-3	FA59A_HUMAN;.	W	558	ENSP00000382165:R558W;ENSP00000269209:R558W	ENSP00000269209:R558W	R	-	1	2	FAM59A	28104239	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.459000	0.80802	2.406000	0.81754	0.650000	0.86243	CGG		0.582	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		16	67	0	0	0	1	0	16	67				
CDCP2	200008	broad.mit.edu	37	1	54605311	54605311	+	Missense_Mutation	SNP	C	C	T	rs138436244		TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr1:54605311C>T	ENST00000371330.1	-	4	2079	c.1232G>A	c.(1231-1233)gGt>gAt	p.G411D	RP11-446E24.4_ENST00000525949.1_5'Flank|CDCP2_ENST00000530059.1_Intron	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	411						extracellular region (GO:0005576)				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CTGGAGAAGACCATTCATGGG	0.597																																						ENST00000371330.1																			0				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						c.(1231-1233)gGt>gAt		CUB domain containing protein 2							55.0	55.0	55.0					1																	54605311		2203	4300	6503	SO:0001583	missense	200008					extracellular region		g.chr1:54605311C>T		CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.1232G>A	1.37:g.54605311C>T	ENSP00000360381:p.Gly411Asp					CDCP2_ENST00000530059.1_Intron	p.G411D	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN			4	2079	-			411					Q6ZWJ3	Missense_Mutation	SNP	ENST00000371330.1	37	c.1232G>A	CCDS588.2	.	.	.	.	.	.	.	.	.	.	C	10.24	1.294650	0.23564	.	.	ENSG00000157211	ENST00000371330	T	0.46063	0.88	1.22	1.22	0.21188	.	1.955520	0.03152	N	0.168155	T	0.43122	0.1233	N	0.19112	0.55	0.09310	N	1	D	0.64830	0.994	D	0.65010	0.931	T	0.49437	-0.8940	10	0.11794	T	0.64	0.0168	5.828	0.18564	0.0:1.0:0.0:0.0	.	411	Q5VXM1	CDCP2_HUMAN	D	411	ENSP00000360381:G411D	ENSP00000360381:G411D	G	-	2	0	CDCP2	54377899	0.004000	0.15560	0.020000	0.16555	0.189000	0.23516	0.306000	0.19279	0.946000	0.37632	0.462000	0.41574	GGT		0.597	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000022209.2	NM_201546		50	23	0	0	0	1	0	50	23				
EP400	57634	broad.mit.edu	37	12	132489700	132489700	+	Missense_Mutation	SNP	C	C	T	rs377727173		TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr12:132489700C>T	ENST00000333577.4	+	14	3123	c.3014C>T	c.(3013-3015)cCt>cTt	p.P1005L	EP400_ENST00000389562.2_Missense_Mutation_p.P968L|EP400_ENST00000330386.6_Missense_Mutation_p.P969L|EP400_ENST00000332482.4_Missense_Mutation_p.P932L|EP400_ENST00000389561.2_Missense_Mutation_p.P969L			Q96L91	EP400_HUMAN	E1A binding protein p400	1005	Interactions with RUVBL1 and RUVBL2.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CGGCCGAAGCCTGATGGGGAG	0.567																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(3013-3015)cCt>cTt		E1A binding protein p400		C	LEU/PRO	1,4395		0,1,2197	21.0	19.0	20.0		2906	5.4	0.3	12		20	0,8588		0,0,4294	no	missense	EP400	NM_015409.4	98	0,1,6491	TT,TC,CC		0.0,0.0227,0.0077	benign	969/3124	132489700	1,12983	2198	4294	6492	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132489700C>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.3014C>T	12.37:g.132489700C>T	ENSP00000333602:p.Pro1005Leu					EP400_ENST00000389562.2_Missense_Mutation_p.P968L|EP400_ENST00000330386.6_Missense_Mutation_p.P969L|EP400_ENST00000389561.2_Missense_Mutation_p.P969L|EP400_ENST00000332482.4_Missense_Mutation_p.P932L	p.P1005L			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	14	3123	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1005			Interactions with RUVBL1 and RUVBL2.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.3014C>T		.	.	.	.	.	.	.	.	.	.	C	7.281	0.609164	0.14066	2.27E-4	0.0	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.89939	-2.59;-2.58;-2.59;-2.58;-2.58	5.36	5.36	0.76844	.	0.304055	0.36444	N	0.002593	D	0.83691	0.5309	L	0.28740	0.885	0.43830	D	0.996404	B;B;B	0.21381	0.055;0.055;0.055	B;B;B	0.24155	0.051;0.051;0.051	T	0.78630	-0.2129	10	0.24483	T	0.36	.	17.2781	0.87122	0.0:1.0:0.0:0.0	.	969;969;968	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	L	1005;969;968;932;969;969;969	ENSP00000333602:P1005L;ENSP00000374212:P969L;ENSP00000374213:P968L;ENSP00000331737:P932L;ENSP00000330620:P969L	ENSP00000330620:P969L	P	+	2	0	EP400	131055653	0.198000	0.23374	0.268000	0.24571	0.005000	0.04900	1.256000	0.32921	2.495000	0.84180	0.655000	0.94253	CCT		0.567	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		6	7	0	0	0	1	0	6	7				
IGKV2D-30	28881	broad.mit.edu	37	2	89976340	89976340	+	RNA	SNP	C	C	T	rs368396735	byFrequency	TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr2:89976340C>T	ENST00000474213.1	+	0	246									immunoglobulin kappa variable 2D-30																		ATCTCCAAGGCGCCTAATTTA	0.517													C|||	3	0.000599042	0.0008	0.0014	5008	,	,		15602	0.001		0.0	False		,,,				2504	0.0					ENST00000474213.1																			0															C		6,3612		1,4,1804	83.0	86.0	85.0			-0.2	0.0	2		85	0,8132		0,0,4066	no	intergenic				1,4,5870	TT,TC,CC		0.0,0.1658,0.0511			89976340	6,11744	1809	4066	5875			0							g.chr2:89976340C>T	X63402		2p11.2	2012-02-08			ENSG00000239571	ENSG00000239571		"""Immunoglobulins / IGK locus"""	5801	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151613		2.37:g.89976340C>T														0	246	+									RNA	SNP	ENST00000474213.1	37																																																																																						0.517	IGKV2D-30-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323285.1	NG_000833		47	6	0	0	0	1	0	47	6				
RAB33A	9363	broad.mit.edu	37	X	129306073	129306073	+	Missense_Mutation	SNP	C	C	A	rs200877853		TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chrX:129306073C>A	ENST00000257017.4	+	1	451	c.37C>A	c.(37-39)Ccc>Acc	p.P13T		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	13					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						GAGCCTGCAGCCCGCCTCGGC	0.647																																						ENST00000257017.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						c.(37-39)Ccc>Acc		RAB33A, member RAS oncogene family							26.0	23.0	24.0					X																	129306073		2201	4298	6499	SO:0001583	missense	9363				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chrX:129306073C>A	D14889	CCDS14621.1	Xq26	2008-02-05			ENSG00000134594	ENSG00000134594		"""RAB, member RAS oncogene"""	9773	protein-coding gene	gene with protein product		300333				7688322, 9512502	Standard	NM_004794		Approved	RabS10	uc004evl.3	Q14088	OTTHUMG00000022391	ENST00000257017.4:c.37C>A	X.37:g.129306073C>A	ENSP00000257017:p.Pro13Thr						p.P13T	NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN			1	451	+			13					Q5JUZ6|Q92465	Missense_Mutation	SNP	ENST00000257017.4	37	c.37C>A	CCDS14621.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.506368	0.26949	.	.	ENSG00000134594	ENST00000257017	T	0.67865	-0.29	5.2	3.29	0.37713	.	0.609453	0.16245	N	0.222991	T	0.37404	0.1002	N	0.08118	0	0.31612	N	0.651307	B	0.17038	0.02	B	0.14578	0.011	T	0.38436	-0.9661	10	0.02654	T	1	-10.4557	7.6864	0.28542	0.0:0.6432:0.2596:0.0972	.	13	Q14088	RB33A_HUMAN	T	13	ENSP00000257017:P13T	ENSP00000257017:P13T	P	+	1	0	RAB33A	129133754	0.949000	0.32298	0.950000	0.38849	0.714000	0.41099	1.710000	0.37920	2.292000	0.77174	0.556000	0.70494	CCC		0.647	RAB33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058246.1	NM_004794		19	18	1	0	5.35267e-07	1	5.84828e-07	19	18				
TRMT13	54482	broad.mit.edu	37	1	100613620	100613620	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr1:100613620A>G	ENST00000370141.2	+	10	994	c.988A>G	c.(988-990)Att>Gtt	p.I330V		NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	330					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										TGTGGCTGGCATTGTTATTGC	0.413																																						ENST00000370141.2																			0											c.(988-990)Att>Gtt		tRNA methyltransferase 13 homolog (S. cerevisiae)							96.0	93.0	94.0					1																	100613620		2203	4300	6503	SO:0001583	missense	54482							g.chr1:100613620A>G	BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"""coiled-coil domain containing 76"""	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.988A>G	1.37:g.100613620A>G	ENSP00000359160:p.Ile330Val						p.I330V	NM_019083.2	NP_061956.2					10	994	+								Q5VVL0|Q9NW65	Missense_Mutation	SNP	ENST00000370141.2	37	c.988A>G	CCDS765.1	.	.	.	.	.	.	.	.	.	.	A	19.08	3.758580	0.69763	.	.	ENSG00000122435	ENST00000370141	T	0.45276	0.9	5.75	5.75	0.90469	Methyltransferase TRM13 (1);	0.114436	0.64402	D	0.000011	T	0.38746	0.1052	L	0.46157	1.445	0.80722	D	1	P	0.51791	0.948	P	0.54499	0.754	T	0.09357	-1.0678	10	0.25751	T	0.34	-4.3887	16.0623	0.80847	1.0:0.0:0.0:0.0	.	330	Q9NUP7	TRM13_HUMAN	V	330	ENSP00000359160:I330V	ENSP00000359160:I330V	I	+	1	0	CCDC76	100386208	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.369000	0.44231	2.195000	0.70347	0.533000	0.62120	ATT		0.413	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029919.1	NM_019083		18	39	0	0	0	1	0	18	39				
MUC4	4585	broad.mit.edu	37	3	195508194	195508194	+	Silent	SNP	T	T	G	rs569036865	byFrequency	TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr3:195508194T>G	ENST00000463781.3	-	2	10716	c.10257A>C	c.(10255-10257)acA>acC	p.T3419T	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.T3419T|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGGCGTGACCTGTGGATGCTG	0.587													.|||	137	0.0273562	0.0151	0.0245	5008	,	,		14967	0.005		0.0517	False		,,,				2504	0.044					ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(10255-10257)acA>acC		mucin 4, cell surface associated							27.0	21.0	23.0					3																	195508194		689	1578	2267	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195508194T>G	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.10257A>C	3.37:g.195508194T>G						MUC4_ENST00000475231.1_Silent_p.T3419T|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	p.T3419T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	10716	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	187					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.10257A>C	CCDS54700.1																																																																																				0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		4	11	0	0	0	1	0	4	11				
KIF26B	55083	broad.mit.edu	37	1	245775144	245775144	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr1:245775144T>G	ENST00000407071.2	+	9	2404	c.1964T>G	c.(1963-1965)tTt>tGt	p.F655C	RP11-522M21.2_ENST00000418402.1_RNA|KIF26B_ENST00000366518.4_Missense_Mutation_p.F274C	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	655	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AAGGCTGCCTTTTTCCTGGAT	0.602																																						ENST00000366518.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(820-822)tTt>tGt		kinesin family member 26B							38.0	44.0	42.0					1																	245775144		2008	4163	6171	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245775144T>G	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.1964T>G	1.37:g.245775144T>G	ENSP00000385545:p.Phe655Cys					KIF26B_ENST00000407071.2_Missense_Mutation_p.F655C	p.F274C			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		6	925	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		655					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.821T>G	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	T	13.97	2.397114	0.42512	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.74632	-0.86;-0.86	5.22	5.22	0.72569	Kinesin, motor domain (4);	.	.	.	.	D	0.82536	0.5058	L	0.49126	1.545	0.54753	D	0.999988	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.993	D	0.84097	0.0393	9	0.62326	D	0.03	.	15.1052	0.72315	0.0:0.0:0.0:1.0	.	274;655	B7WPD9;Q2KJY2	.;KI26B_HUMAN	C	655;274;271	ENSP00000385545:F655C;ENSP00000355475:F274C	ENSP00000355475:F274C	F	+	2	0	KIF26B	243841767	1.000000	0.71417	0.998000	0.56505	0.686000	0.39977	4.913000	0.63341	1.979000	0.57680	0.533000	0.62120	TTT		0.602	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		19	52	0	0	0	1	0	19	52				
IMPG1	3617	broad.mit.edu	37	6	76715225	76715225	+	Missense_Mutation	SNP	G	G	A	rs370162508		TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr6:76715225G>A	ENST00000369950.3	-	10	1103	c.914C>T	c.(913-915)aCg>aTg	p.T305M	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AAAGATGGCCGTAAGTTGCAT	0.448													G|||	1	0.000199681	0.0	0.0	5008	,	,		17487	0.001		0.0	False		,,,				2504	0.0				Pancreas(37;839 1141 2599 26037)	ENST00000369950.3																			0				breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(913-915)aCg>aTg		interphotoreceptor matrix proteoglycan 1		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	110.0	99.0	103.0		914	-2.4	0.0	6		103	0,8600		0,0,4300	no	missense	IMPG1	NM_001563.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	305/798	76715225	1,13005	2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76715225G>A	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.914C>T	6.37:g.76715225G>A	ENSP00000358966:p.Thr305Met					IMPG1_ENST00000369963.3_3'UTR	p.T305M	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN			10	1103	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	305			SEA 1.			Missense_Mutation	SNP	ENST00000369950.3	37	c.914C>T	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	G	1.350	-0.591715	0.03799	2.27E-4	0.0	ENSG00000112706	ENST00000369950	T	0.39997	1.05	5.82	-2.44	0.06502	SEA (2);	1.034680	0.07601	N	0.923616	T	0.06325	0.0163	N	0.03177	-0.4	0.09310	N	1	B	0.25772	0.134	B	0.22753	0.041	T	0.33979	-0.9847	10	0.18710	T	0.47	.	11.2022	0.48747	0.4755:0.0:0.5245:0.0	.	305	Q17R60	IMPG1_HUMAN	M	305	ENSP00000358966:T305M	ENSP00000358966:T305M	T	-	2	0	IMPG1	76771945	0.000000	0.05858	0.002000	0.10522	0.392000	0.30506	0.158000	0.16422	-0.381000	0.07882	0.585000	0.79938	ACG		0.448	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		17	94	0	0	0	1	0	17	94				
OR1N2	138882	broad.mit.edu	37	9	125315642	125315642	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr9:125315642C>A	ENST00000373688.2	+	1	252	c.194C>A	c.(193-195)gCc>gAc	p.A65D		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						ATTATCCTGGCCATCAGCTCT	0.522																																						ENST00000373688.2																			0				breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						c.(193-195)gCc>gAc		olfactory receptor, family 1, subfamily N, member 2							244.0	218.0	227.0					9																	125315642		2203	4300	6503	SO:0001583	missense	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125315642C>A		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"""GPCR / Class A : Olfactory receptors"""	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.194C>A	9.37:g.125315642C>A	ENSP00000362792:p.Ala65Asp						p.A65D	NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN			1	252	+			65					A3KFM2|B2RNY4|Q6IF17|Q96RA3	Missense_Mutation	SNP	ENST00000373688.2	37	c.194C>A	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.944973	0.34283	.	.	ENSG00000171501	ENST00000373688	T	0.10573	2.86	4.37	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	0.143263	0.31784	N	0.007072	T	0.34395	0.0896	M	0.92026	3.265	0.09310	N	1	D	0.65815	0.995	D	0.69654	0.965	T	0.15178	-1.0446	10	0.87932	D	0	.	7.3673	0.26781	0.0:0.7:0.0:0.3	.	65	Q8NGR9	OR1N2_HUMAN	D	65	ENSP00000362792:A65D	ENSP00000362792:A65D	A	+	2	0	OR1N2	124355463	0.000000	0.05858	0.996000	0.52242	0.290000	0.27261	-0.053000	0.11846	0.454000	0.26884	0.650000	0.86243	GCC		0.522	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			45	44	1	0	2.43468e-25	1	2.81659e-25	45	44				
BCL11A	53335	broad.mit.edu	37	2	60773229	60773229	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr2:60773229A>G	ENST00000335712.6	-	2	489	c.262T>C	c.(262-264)Tca>Cca	p.S88P	BCL11A_ENST00000537768.1_5'UTR|BCL11A_ENST00000538214.1_Missense_Mutation_p.S88P|BCL11A_ENST00000358510.4_Missense_Mutation_p.S88P|BCL11A_ENST00000356842.4_Missense_Mutation_p.S88P|BCL11A_ENST00000359629.5_Missense_Mutation_p.S88P	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	88	Required for nuclear body formation and for SUMO1 recruitment. {ECO:0000250}.				B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TCGATTGGTGAAGGGGAAGGT	0.463			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(262-264)Tca>Cca		B-cell CLL/lymphoma 11A (zinc finger protein)							164.0	157.0	159.0					2																	60773229		2203	4300	6503	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60773229A>G	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.262T>C	2.37:g.60773229A>G	ENSP00000338774:p.Ser88Pro					BCL11A_ENST00000537768.1_5'UTR|BCL11A_ENST00000358510.4_Missense_Mutation_p.S88P|BCL11A_ENST00000356842.4_Missense_Mutation_p.S88P|BCL11A_ENST00000538214.1_Missense_Mutation_p.S88P|BCL11A_ENST00000359629.5_Missense_Mutation_p.S88P	p.S88P	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		2	489	-			88			Required for nuclear body formation and for SUMO1 recruitment (By similarity).		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.262T>C	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	A	9.839	1.190434	0.21954	.	.	ENSG00000119866	ENST00000356842;ENST00000359629;ENST00000378117;ENST00000538214;ENST00000335712;ENST00000358510	T;T;T;T	0.09723	2.95;3.19;3.2;3.14	5.78	5.78	0.91487	.	0.000000	0.56097	D	0.000037	T	0.07863	0.0197	N	0.22421	0.69	0.80722	D	1	B;B;B;B;B;B	0.09022	0.002;0.0;0.0;0.0;0.001;0.0	B;B;B;B;B;B	0.09377	0.004;0.001;0.001;0.001;0.003;0.002	T	0.33085	-0.9882	10	0.22706	T	0.39	-1.1572	11.2305	0.48910	0.8633:0.0:0.0:0.1366	.	88;88;88;88;88;88	F5H2Y4;Q66LN6;Q9H165-6;Q9H165;Q9H165-3;D9YZV9	.;.;.;BC11A_HUMAN;.;.	P	88;88;124;88;88;88	ENSP00000349300:S88P;ENSP00000438303:S88P;ENSP00000338774:S88P;ENSP00000351307:S88P	ENSP00000338774:S88P	S	-	1	0	BCL11A	60626733	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.203000	0.72137	2.208000	0.71279	0.455000	0.32223	TCA		0.463	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		20	46	0	0	0	1	0	20	46				
SLC14A2	8170	broad.mit.edu	37	18	43248429	43248429	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr18:43248429A>T	ENST00000255226.6	+	15	2839	c.2023A>T	c.(2023-2025)Atg>Ttg	p.M675L	RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000586448.1_Missense_Mutation_p.M675L|SLC14A2_ENST00000589658.1_Missense_Mutation_p.M152L	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	675					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CGTCATCATCATGTCCATGTC	0.498																																						ENST00000255226.6																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2023-2025)Atg>Ttg		solute carrier family 14 (urea transporter), member 2							225.0	179.0	195.0					18																	43248429		2203	4300	6503	SO:0001583	missense	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43248429A>T	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.2023A>T	18.37:g.43248429A>T	ENSP00000255226:p.Met675Leu					SLC14A2_ENST00000589658.1_Missense_Mutation_p.M152L|SLC14A2_ENST00000586448.1_Missense_Mutation_p.M675L	p.M675L	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN			15	2839	+			675					A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	c.2023A>T	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	A	6.365	0.435391	0.12045	.	.	ENSG00000132874	ENST00000255226	T	0.48836	0.8	4.83	4.83	0.62350	.	0.196730	0.36444	N	0.002599	T	0.41766	0.1173	L	0.60455	1.87	0.80722	D	1	B	0.25809	0.135	B	0.28385	0.089	T	0.37033	-0.9723	10	0.36615	T	0.2	-29.6133	7.2086	0.25921	0.8697:0.0:0.1303:0.0	.	675	Q15849	UT2_HUMAN	L	675	ENSP00000255226:M675L	ENSP00000255226:M675L	M	+	1	0	SLC14A2	41502427	0.926000	0.31397	0.880000	0.34516	0.682000	0.39822	2.015000	0.40961	2.027000	0.59764	0.460000	0.39030	ATG		0.498	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			16	88	0	0	0	1	0	16	88				
RAD54B	25788	broad.mit.edu	37	8	95403998	95403998	+	Nonsense_Mutation	SNP	G	G	A	rs377463964		TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr8:95403998G>A	ENST00000336148.5	-	10	1772	c.1648C>T	c.(1648-1650)Cga>Tga	p.R550*		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	550					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			GCTCCTGGTCGGCAAAAGACA	0.393								Direct reversal of damage;Homologous recombination																														ENST00000336148.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1648-1650)Cga>Tga	Direct reversal of damage;Homologous recombination	RAD54 homolog B (S. cerevisiae)		G	stop/ARG,stop/ARG	0,4406		0,0,2203	120.0	126.0	124.0		1096,1648	4.1	1.0	8		124	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained	RAD54B	NM_001205263.1,NM_012415.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	366/727,550/911	95403998	1,13005	2203	4300	6503	SO:0001587	stop_gained	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95403998G>A	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.1648C>T	8.37:g.95403998G>A	ENSP00000336606:p.Arg550*						p.R550*	NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		10	1772	-	Breast(36;4.5e-05)		0					F6WBS8	Nonsense_Mutation	SNP	ENST00000336148.5	37	c.1648C>T	CCDS6262.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797993	0.90538	0.0	1.16E-4	ENSG00000197275	ENST00000336148;ENST00000546218	.	.	.	4.96	4.08	0.47627	.	0.595728	0.18049	N	0.153376	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.376	13.6236	0.62150	0.0755:0.0:0.9245:0.0	.	.	.	.	X	550;222	.	ENSP00000336606:R550X	R	-	1	2	RAD54B	95473174	1.000000	0.71417	0.998000	0.56505	0.719000	0.41307	2.895000	0.48648	1.206000	0.43276	-0.145000	0.13849	CGA		0.393	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415		40	96	0	0	0	1	0	40	96				
GAST	2520	broad.mit.edu	37	17	39872040	39872040	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr17:39872040G>C	ENST00000329402.3	+	3	289	c.222G>C	c.(220-222)aaG>aaC	p.K74N	RNA5SP442_ENST00000365050.1_RNA|JUP_ENST00000540235.1_Intron	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	gastrin	74					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			ACCCGTCCAAGAAGCAGGGAC	0.557																																						ENST00000329402.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(220-222)aaG>aaC		gastrin							93.0	94.0	94.0					17																	39872040		2203	4300	6503	SO:0001583	missense	2520					extracellular region	hormone activity	g.chr17:39872040G>C		CCDS11404.1	17q21.2	2013-02-26	2005-06-14	2005-06-14	ENSG00000184502	ENSG00000184502		"""Endogenous ligands"""	4164	protein-coding gene	gene with protein product	"""preprogastrin"""	137250		GAS			Standard	NM_000805		Approved		uc002hxl.3	P01350	OTTHUMG00000133496	ENST00000329402.3:c.222G>C	17.37:g.39872040G>C	ENSP00000331358:p.Lys74Asn					JUP_ENST00000540235.1_Intron	p.K74N	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		3	289	+		Breast(137;0.000307)	74					P78463|P78464	Missense_Mutation	SNP	ENST00000329402.3	37	c.222G>C	CCDS11404.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968513	0.53614	.	.	ENSG00000184502	ENST00000329402	T	0.22134	1.97	4.74	4.74	0.60224	Gastrin/cholecystokinin peptide hormone (1);	0.000000	0.56097	D	0.000031	T	0.40119	0.1104	L	0.58925	1.835	0.36844	D	0.887569	D	0.89917	1.0	D	0.91635	0.999	T	0.30679	-0.9970	10	0.30854	T	0.27	-36.5507	13.1178	0.59309	0.0:0.0:1.0:0.0	.	74	P01350	GAST_HUMAN	N	74	ENSP00000331358:K74N	ENSP00000331358:K74N	K	+	3	2	GAST	37125566	1.000000	0.71417	1.000000	0.80357	0.321000	0.28281	1.877000	0.39598	2.455000	0.83008	0.655000	0.94253	AAG		0.557	GAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257409.1			23	114	0	0	0	1	0	23	114				
KANSL2	54934	broad.mit.edu	37	12	49054403	49054403	+	Splice_Site	SNP	C	C	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr12:49054403C>A	ENST00000420613.2	-	8	1021		c.e8-1		KANSL2_ENST00000550347.1_Splice_Site|KANSL2_ENST00000548701.1_Splice_Site|KANSL2_ENST00000553086.1_Splice_Site	NM_017822.3	NP_060292.3	Q9H9L4	KANL2_HUMAN	KAT8 regulatory NSL complex subunit 2						chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)											TGACAAATATCTGTAGAAAAA	0.403																																						ENST00000550347.1																			0											c.e7-1		KAT8 regulatory NSL complex subunit 2							42.0	44.0	43.0					12																	49054403		1864	4098	5962	SO:0001630	splice_region_variant	54934							g.chr12:49054403C>A	AK094528	CCDS44869.1	12q13.11	2011-10-31	2011-10-31	2011-10-31	ENSG00000139620	ENSG00000139620			26024	protein-coding gene	gene with protein product		615488	"""chromosome 12 open reading frame 41"""	C12orf41		12477932	Standard	NM_017822		Approved	FLJ20436, NSL2	uc001rrz.2	Q9H9L4	OTTHUMG00000170392	ENST00000420613.2:c.974-1G>T	12.37:g.49054403C>A						KANSL2_ENST00000548701.1_Splice_Site|KANSL2_ENST00000420613.2_Splice_Site|KANSL2_ENST00000553086.1_Splice_Site				Q9H9L4	CL041_HUMAN			7	1566	-								Q8N3B5|Q96CV0|Q9NX51	Splice_Site	SNP	ENST00000420613.2	37		CCDS44869.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158301	0.78114	.	.	ENSG00000139620	ENST00000550347;ENST00000420613;ENST00000547087;ENST00000553086	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9434	0.86224	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C12orf41	47340670	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.194000	0.77789	2.603000	0.88011	0.557000	0.71058	.		0.403	KANSL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408841.1	NM_017822	Intron	3	11	1	0	0.150653	1	0.151941	3	11				
KIR3DX1	90011	broad.mit.edu	37	19	55045110	55045110	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr19:55045110A>G	ENST00000335056.3	+	3	268	c.230A>G	c.(229-231)aAc>aGc	p.N77S				Q9H7L2	KI3X1_HUMAN	killer cell immunoglobulin-like receptor, three domains, X1	77	Ig-like C2-type 1.					extracellular region (GO:0005576)				endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		GGCCTTTCCAACAACATCACC	0.507																																					Colon(183;529 2002 28270 32358 35845)|Esophageal Squamous(50;443 1006 2278 10294 37938)	ENST00000335056.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24						c.(229-231)aAc>aGc									82.0	85.0	84.0					19																	55045110		2102	4245	6347	SO:0001583	missense	0							g.chr19:55045110A>G	BC033195		19q13.42	2013-03-26	2006-09-12	2006-09-12	ENSG00000104970	ENSG00000104970		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	25043	other	unknown			"""leukocyte receptor cluster (LRC) member 12"""	LENG12		11441184	Standard	NR_026716		Approved	FLJ00060	uc010erm.2	Q9H7L2	OTTHUMG00000065696	ENST00000335056.3:c.230A>G	19.37:g.55045110A>G	ENSP00000335388:p.Asn77Ser						p.N77S						GBM - Glioblastoma multiforme(193;0.099)	3	268	+								B7WNL0|Q8N0S4	Missense_Mutation	SNP	ENST00000335056.3	37	c.230A>G		.	.	.	.	.	.	.	.	.	.	A	9.843	1.191522	0.21954	.	.	ENSG00000104970	ENST00000335056	T	0.00682	5.86	2.42	-4.85	0.03142	.	.	.	.	.	T	0.00936	0.0031	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33675	-0.9859	6	0.72032	D	0.01	.	5.345	0.16004	0.2292:0.3084:0.4623:0.0	.	.	.	.	S	77	ENSP00000335388:N77S	ENSP00000221567:N77S	N	+	2	0	KIR3DX1	59736922	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.117000	0.03283	-1.454000	0.01926	-0.250000	0.11733	AAC		0.507	KIR3DX1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000140800.2	NR_026716		10	48	0	0	0	1	0	10	48				
OR51Q1	390061	broad.mit.edu	37	11	5443752	5443752	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr11:5443752G>T	ENST00000300778.4	+	1	412	c.322G>T	c.(322-324)Gga>Tga	p.G108*	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCCTTCATGGATTCTCCTT	0.502																																						ENST00000300778.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37						c.(322-324)Gga>Tga		olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)							163.0	143.0	150.0					11																	5443752		2201	4297	6498	SO:0001587	stop_gained	390061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5443752G>T	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"""GPCR / Class A : Olfactory receptors"""	14851	protein-coding gene	gene with protein product			"""olfactory receptor, family 51, subfamily Q, member 1"""				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.322G>T	11.37:g.5443752G>T	ENSP00000300778:p.Gly108*					HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	p.G108*	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	412	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	108					B2RNN1	Nonsense_Mutation	SNP	ENST00000300778.4	37	c.322G>T	CCDS31381.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072727	0.55646	.	.	ENSG00000167360	ENST00000300778	.	.	.	5.0	-4.94	0.03057	.	1.079860	0.07156	N	0.849981	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	4.5519	0.12116	0.5822:0.1034:0.2097:0.1047	.	.	.	.	X	108	.	ENSP00000300778:G108X	G	+	1	0	OR51Q1	5400328	0.000000	0.05858	0.000000	0.03702	0.661000	0.39034	-3.110000	0.00600	-0.712000	0.04988	0.380000	0.24917	GGA		0.502	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		57	38	1	0	2.14674e-31	1	2.50807e-31	57	38				
SYNGAP1	8831	broad.mit.edu	37	6	33391325	33391325	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr6:33391325C>T	ENST00000418600.2	+	2	240	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.R47W	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	47					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TTGGAACCCTCGGTTCTGCAT	0.542																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(139-141)Cgg>Tgg		synaptic Ras GTPase activating protein 1							207.0	182.0	190.0					6																	33391325		2203	4300	6503	SO:0001583	missense	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33391325C>T	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.139C>T	6.37:g.33391325C>T	ENSP00000403636:p.Arg47Trp					SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.R47W	p.R47W	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			2	240	+			47					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	c.139C>T	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996905	0.54147	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372	T;T	0.19105	2.17;2.26	3.73	3.73	0.42828	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.287715	0.26352	N	0.024869	T	0.21468	0.0517	L	0.40543	1.245	0.33951	D	0.64439	D;D;D	0.89917	0.994;0.996;1.0	D;D;P	0.69307	0.919;0.963;0.908	T	0.02411	-1.1163	10	0.87932	D	0	.	8.7924	0.34859	0.2249:0.7751:0.0:0.0	.	47;47;47	Q96PV0;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.	W	47	ENSP00000293748:R47W;ENSP00000403636:R47W	ENSP00000293748:R47W	R	+	1	2	SYNGAP1	33499303	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.839000	0.48207	2.098000	0.63641	0.555000	0.69702	CGG		0.542	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		43	172	0	0	0	1	0	43	172				
KLHDC2	23588	broad.mit.edu	37	14	50249133	50249133	+	Silent	SNP	T	T	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr14:50249133T>G	ENST00000298307.5	+	11	1863	c.1002T>G	c.(1000-1002)gtT>gtG	p.V334V	NEMF_ENST00000556925.1_5'Flank|KLHDC2_ENST00000557247.1_3'UTR|KLHDC2_ENST00000554589.1_Silent_p.V334V	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	334						nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					AAGTAATTGTTTTTGGTGGAT	0.403																																						ENST00000298307.5																			0				endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1000-1002)gtT>gtG		kelch domain containing 2							186.0	184.0	185.0					14																	50249133		2203	4300	6503	SO:0001819	synonymous_variant	23588					nucleus	protein binding	g.chr14:50249133T>G	AK001771	CCDS9693.1	14q21.3	2003-01-15			ENSG00000165516	ENSG00000165516			20231	protein-coding gene	gene with protein product		611280				11384994	Standard	NM_014315		Approved	HCLP-1, LCP	uc001wwx.3	Q9Y2U9	OTTHUMG00000140288	ENST00000298307.5:c.1002T>G	14.37:g.50249133T>G						KLHDC2_ENST00000554589.1_Silent_p.V334V|KLHDC2_ENST00000557247.1_3'UTR	p.V334V	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN			11	1863	+	all_epithelial(31;0.000959)|Breast(41;0.0117)		334					B3KPF9|Q6IAF0|Q86TY9	Silent	SNP	ENST00000298307.5	37	c.1002T>G	CCDS9693.1																																																																																				0.403	KLHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276869.1			16	42	0	0	0	1	0	16	42				
RPSAP52	204010	broad.mit.edu	37	12	66152702	66152702	+	RNA	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr12:66152702C>T	ENST00000489520.2	-	0	241					NR_026825.2				ribosomal protein SA pseudogene 52																		TTTGGTGCCACCTAATTGGAT	0.433																																						ENST00000489520.2																			0																																																			0							g.chr12:66152702C>T			12q14.3	2010-09-24			ENSG00000241749	ENSG00000241749			35752	pseudogene	pseudogene						19123937	Standard	NR_026825		Approved		uc001sso.4		OTTHUMG00000157608		12.37:g.66152702C>T								NR_026825.2						0	241	-									RNA	SNP	ENST00000489520.2	37																																																																																						0.433	RPSAP52-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000349256.2	NG_006174		3	8	0	0	0	1	0	3	8				
RAD54L	8438	broad.mit.edu	37	1	46714224	46714224	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr1:46714224C>A	ENST00000371975.4	+	2	718	c.44C>A	c.(43-45)cCt>cAt	p.P15H	RAD54L_ENST00000442598.1_Missense_Mutation_p.P15H	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	15					chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.P15H(1)		breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		AAGAGAAAACCTGAAGGCAGG	0.547								Direct reversal of damage;Homologous recombination																														ENST00000371975.4																			1	Substitution - Missense(1)	p.P15H(1)	kidney(1)	breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25						c.(43-45)cCt>cAt	Direct reversal of damage;Homologous recombination	RAD54-like (S. cerevisiae)							67.0	70.0	69.0					1																	46714224		2203	4300	6503	SO:0001583	missense	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46714224C>A	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.44C>A	1.37:g.46714224C>A	ENSP00000361043:p.Pro15His					RAD54L_ENST00000442598.1_Missense_Mutation_p.P15H	p.P15H	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	2	718	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	15					Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	37	c.44C>A	CCDS532.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.623592	0.28889	.	.	ENSG00000085999	ENST00000442598;ENST00000371975	D;D	0.88277	-2.36;-2.36	5.69	4.78	0.61160	.	0.487586	0.23314	N	0.049526	T	0.78123	0.4234	N	0.08118	0	0.29560	N	0.850697	B	0.25272	0.122	B	0.22601	0.04	T	0.73300	-0.4026	10	0.45353	T	0.12	-7.8326	12.9196	0.58224	0.0:0.9243:0.0:0.0757	.	15	Q92698	RAD54_HUMAN	H	15	ENSP00000396113:P15H;ENSP00000361043:P15H	ENSP00000361043:P15H	P	+	2	0	RAD54L	46486811	0.663000	0.27448	0.178000	0.23040	0.026000	0.11368	1.527000	0.35975	1.548000	0.49413	0.655000	0.94253	CCT		0.547	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		18	35	1	0	5.35267e-07	1	5.84828e-07	18	35				
RPS6KA6	27330	broad.mit.edu	37	X	83403058	83403058	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chrX:83403058G>A	ENST00000262752.2	-	4	339	c.332C>T	c.(331-333)tCt>tTt	p.S111F	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.S111F	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	111	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S111F(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ACCTTTTAAAGAGGCTTTTTT	0.299																																						ENST00000262752.2																			1	Substitution - Missense(1)	p.S111F(1)	skin(1)	NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						c.(331-333)tCt>tTt		ribosomal protein S6 kinase, 90kDa, polypeptide 6							36.0	33.0	34.0					X																	83403058		2201	4292	6493	SO:0001583	missense	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83403058G>A	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.332C>T	X.37:g.83403058G>A	ENSP00000262752:p.Ser111Phe					RPS6KA6_ENST00000543399.1_Missense_Mutation_p.S111F	p.S111F	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN			4	339	-			111			Protein kinase 1.		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	ENST00000262752.2	37	c.332C>T	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	g	15.95	2.983129	0.53827	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.66995	-0.24;-0.24	5.04	5.04	0.67666	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.51873	0.1700	N	0.11651	0.15	0.58432	D	0.999996	B;B	0.16396	0.017;0.008	B;B	0.23275	0.045;0.045	T	0.52983	-0.8502	10	0.87932	D	0	.	17.1472	0.86769	0.0:0.0:1.0:0.0	.	111;111	B7ZL90;Q9UK32	.;KS6A6_HUMAN	F	111	ENSP00000262752:S111F;ENSP00000440830:S111F	ENSP00000262752:S111F	S	-	2	0	RPS6KA6	83289714	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	5.702000	0.68332	2.071000	0.62044	0.464000	0.42555	TCT		0.299	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		9	14	0	0	0	1	0	9	14				
CELF6	60677	broad.mit.edu	37	15	72608246	72608246	+	Silent	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr15:72608246G>A	ENST00000569547.1	-	2	356	c.285C>T	c.(283-285)tgC>tgT	p.C95C	RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000539635.1_5'UTR|CELF6_ENST00000567083.1_Silent_p.C95C|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000287202.5_Silent_p.C95C			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	95	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						AGTCCCGGGCGCAGTAGGTGA	0.587																																						ENST00000287202.5																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						c.(283-285)tgC>tgT		CUGBP, Elav-like family member 6							31.0	32.0	32.0					15																	72608246		2198	4296	6494	SO:0001819	synonymous_variant	60677				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr15:72608246G>A	AF425606	CCDS10242.1, CCDS53955.1, CCDS53956.1	15q24	2013-02-12	2010-02-19	2010-02-19	ENSG00000140488	ENSG00000140488		"""RNA binding motif (RRM) containing"""	14059	protein-coding gene	gene with protein product		612681	"""Bruno (Drosophila) -like 6, RNA binding protein"", ""bruno-like 6, RNA binding protein (Drosophila)"""	BRUNOL6		10893231	Standard	NM_052840		Approved		uc002auh.2	Q96J87	OTTHUMG00000133444	ENST00000569547.1:c.285C>T	15.37:g.72608246G>A						RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000539635.1_5'UTR|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000567083.1_Silent_p.C95C	p.C95C	NM_052840.4	NP_443072.3	Q96J87	CELF6_HUMAN			2	539	-			95			RRM 1.		B4DG28|B4DJB6|Q6PII4|Q6ZNJ7|Q8N607	Silent	SNP	ENST00000569547.1	37	c.285C>T	CCDS10242.1																																																																																				0.587	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000420180.1	NM_052840		3	18	0	0	0	1	0	3	18				
SYNE1	23345	broad.mit.edu	37	6	152823805	152823805	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr6:152823805T>A	ENST00000367255.5	-	10	1452	c.851A>T	c.(850-852)gAc>gTc	p.D284V	SYNE1_ENST00000367248.3_Missense_Mutation_p.D291V|SYNE1_ENST00000423061.1_Missense_Mutation_p.D291V|SYNE1_ENST00000265368.4_Missense_Mutation_p.D284V|SYNE1_ENST00000466159.2_Missense_Mutation_p.D284V|SYNE1_ENST00000367253.4_Missense_Mutation_p.D284V|SYNE1_ENST00000448038.1_Missense_Mutation_p.D291V|SYNE1_ENST00000341594.5_Missense_Mutation_p.D284V|SYNE1_ENST00000413186.2_Missense_Mutation_p.D284V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	284	Actin-binding.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATTGTGGATGTCAGGATAATG	0.373										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(850-852)gAc>gTc		spectrin repeat containing, nuclear envelope 1							170.0	147.0	155.0					6																	152823805		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152823805T>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.851A>T	6.37:g.152823805T>A	ENSP00000356224:p.Asp284Val	HNSCC(10;0.0054)				SYNE1_ENST00000367248.3_Missense_Mutation_p.D291V|SYNE1_ENST00000466159.2_Missense_Mutation_p.D284V|SYNE1_ENST00000423061.1_Missense_Mutation_p.D291V|SYNE1_ENST00000265368.4_Missense_Mutation_p.D284V|SYNE1_ENST00000448038.1_Missense_Mutation_p.D291V|SYNE1_ENST00000341594.5_Missense_Mutation_p.D284V|SYNE1_ENST00000367253.4_Missense_Mutation_p.D284V|SYNE1_ENST00000413186.2_Missense_Mutation_p.D284V	p.D284V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	10	1452	-		Ovarian(120;0.0955)	284			Actin-binding.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.851A>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	23.3	4.403855	0.83230	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000466159;ENST00000537750	T;T;T;T;T;D;D;D;D;D	0.91843	0.51;0.51;0.42;0.51;0.64;-2.3;-2.46;-2.44;-2.72;-2.92	4.83	4.83	0.62350	.	0.125962	0.34802	U	0.003678	D	0.93354	0.7881	L	0.55017	1.72	0.80722	D	1	B;P;P;P;D	0.76494	0.374;0.592;0.842;0.592;0.999	B;B;P;B;D	0.69824	0.247;0.19;0.675;0.19;0.966	D	0.94345	0.7574	10	0.72032	D	0.01	.	14.4735	0.67531	0.0:0.0:0.0:1.0	.	284;284;284;284;291	B3W695;Q8NF91;F5H4Q0;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	V	284;291;284;291;284;284;291;284;284;284	ENSP00000356224:D284V;ENSP00000396024:D291V;ENSP00000265368:D284V;ENSP00000390975:D291V;ENSP00000341887:D284V;ENSP00000356222:D284V;ENSP00000356217:D291V;ENSP00000414510:D284V;ENSP00000446021:D284V;ENSP00000441264:D284V	ENSP00000265368:D284V	D	-	2	0	SYNE1	152865498	1.000000	0.71417	0.956000	0.39512	0.976000	0.68499	7.509000	0.81698	1.826000	0.53198	0.514000	0.50259	GAC		0.373	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		9	44	0	0	0	1	0	9	44				
HCFC2	29915	broad.mit.edu	37	12	104492131	104492131	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr12:104492131C>T	ENST00000229330.4	+	13	1855	c.1751C>T	c.(1750-1752)cCt>cTt	p.P584L	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	584	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						AAAGAGACTCCTTCAAATCCA	0.343																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)	ENST00000229330.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1750-1752)cCt>cTt		host cell factor C2							36.0	40.0	39.0					12																	104492131		2203	4300	6503	SO:0001583	missense	29915				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	g.chr12:104492131C>T	AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.1751C>T	12.37:g.104492131C>T	ENSP00000229330:p.Pro584Leu					HCFC2_ENST00000550335.1_3'UTR	p.P584L	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN			13	1855	+			584			Fibronectin type-III 2.		B2R8Q5|C0H5X3	Missense_Mutation	SNP	ENST00000229330.4	37	c.1751C>T	CCDS9097.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298899	0.40694	.	.	ENSG00000111727	ENST00000229330	T	0.01854	4.6	5.68	5.68	0.88126	Fibronectin, type III (3);	0.396789	0.25981	N	0.027076	T	0.03263	0.0095	L	0.43152	1.355	0.34383	D	0.693334	B	0.17667	0.023	B	0.16289	0.015	T	0.31503	-0.9941	10	0.40728	T	0.16	-6.1595	14.6112	0.68517	0.1457:0.8543:0.0:0.0	.	584	Q9Y5Z7	HCFC2_HUMAN	L	584	ENSP00000229330:P584L	ENSP00000229330:P584L	P	+	2	0	HCFC2	103016261	0.528000	0.26314	0.999000	0.59377	0.989000	0.77384	3.029000	0.49712	2.685000	0.91497	0.650000	0.86243	CCT		0.343	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320		8	27	0	0	0	1	0	8	27				
CDH22	64405	broad.mit.edu	37	20	44856148	44856148	+	Splice_Site	SNP	G	G	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr20:44856148G>T	ENST00000372262.3	-	3	1069	c.669C>A	c.(667-669)acC>acA	p.T223T	CDH22_ENST00000537909.1_Splice_Site_p.T223T	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	223	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				gccccTCACCGGTCTTGGGGT	0.716																																						ENST00000372262.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44						c.e3+1		cadherin 22, type 2							13.0	12.0	12.0					20																	44856148		2195	4277	6472	SO:0001630	splice_region_variant	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44856148G>T	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.670+1C>A	20.37:g.44856148G>T						CDH22_ENST00000537909.1_Splice_Site_p.T223_splice	p.T223_splice	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN			3	1069	-		Myeloproliferative disorder(115;0.0122)	223			Cadherin 2.		B9EGK7|O43205	Splice_Site	SNP	ENST00000372262.3	37	c.670_splice	CCDS13395.1																																																																																				0.716	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248	Silent	6	20	1	0	0.00198382	1	0.0020716	6	20				
KCNK5	8645	broad.mit.edu	37	6	39162482	39162482	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr6:39162482T>C	ENST00000359534.3	-	3	691	c.353A>G	c.(352-354)tAt>tGt	p.Y118C		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	118					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GAAGAGACCATAGAAAACACA	0.582																																						ENST00000359534.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						c.(352-354)tAt>tGt		potassium channel, subfamily K, member 5							84.0	92.0	89.0					6																	39162482		2203	4300	6503	SO:0001583	missense	8645				excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39162482T>C	AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.353A>G	6.37:g.39162482T>C	ENSP00000352527:p.Tyr118Cys						p.Y118C	NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN			3	691	-			118					B2RAQ6|B5TJL2|Q5VV76	Missense_Mutation	SNP	ENST00000359534.3	37	c.353A>G	CCDS4841.1	.	.	.	.	.	.	.	.	.	.	T	15.69	2.907017	0.52333	.	.	ENSG00000164626	ENST00000359534	T	0.36520	1.25	5.57	4.4	0.53042	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.40347	0.1113	L	0.46947	1.48	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.41270	-0.9518	10	0.87932	D	0	.	11.3151	0.49388	0.0:0.0713:0.0:0.9287	.	118	O95279	KCNK5_HUMAN	C	118	ENSP00000352527:Y118C	ENSP00000352527:Y118C	Y	-	2	0	KCNK5	39270460	1.000000	0.71417	0.989000	0.46669	0.046000	0.14306	8.040000	0.89188	0.943000	0.37553	0.459000	0.35465	TAT		0.582	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1	NM_003740		39	177	0	0	0	1	0	39	177				
LINC01410	103352539	broad.mit.edu	37	9	66466226	66466226	+	lincRNA	SNP	A	A	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr9:66466226A>G	ENST00000424345.1	+	0	859																											cctagcggagagagagccgga	0.453																																						ENST00000424345.1																			0																																																			0							g.chr9:66466226A>G																													9.37:g.66466226A>G														0	859	+									RNA	SNP	ENST00000424345.1	37																																																																																						0.453	RP11-262H14.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000128851.1			4	5	0	0	0	1	0	4	5				
PXDN	7837	broad.mit.edu	37	2	1652752	1652752	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr2:1652752C>T	ENST00000252804.4	-	17	2850	c.2800G>A	c.(2800-2802)Ggc>Agc	p.G934S		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	934					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CGCAGCAGGCCGCGGTGGCTG	0.692																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(2800-2802)Ggc>Agc		peroxidasin homolog (Drosophila)							15.0	16.0	16.0					2																	1652752		1752	3767	5519	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1652752C>T	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2800G>A	2.37:g.1652752C>T	ENSP00000252804:p.Gly934Ser						p.G934S	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	2850	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	934					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.2800G>A	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	C	33	5.281669	0.95489	.	.	ENSG00000130508	ENST00000252804	D	0.86562	-2.14	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.96194	0.8759	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97157	0.9835	10	0.87932	D	0	-46.3882	19.8119	0.96549	0.0:1.0:0.0:0.0	.	934	Q92626	PXDN_HUMAN	S	934	ENSP00000252804:G934S	ENSP00000252804:G934S	G	-	1	0	PXDN	1631759	1.000000	0.71417	0.345000	0.25642	0.990000	0.78478	7.733000	0.84916	2.683000	0.91414	0.558000	0.71614	GGC		0.692	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		18	28	0	0	0	1	0	18	28				
FAM92B	339145	broad.mit.edu	37	16	85135890	85135890	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr16:85135890G>A	ENST00000539556.1	-	7	736	c.581C>T	c.(580-582)gCc>gTc	p.A194V		NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN	family with sequence similarity 92, member B	194										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						CACCGCTTTGGCATGGAAAAC	0.473																																						ENST00000539556.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						c.(580-582)gCc>gTc		family with sequence similarity 92, member B							93.0	88.0	90.0					16																	85135890		2198	4300	6498	SO:0001583	missense	339145							g.chr16:85135890G>A		CCDS32500.1	16q24.1	2005-09-22				ENSG00000153789			24781	protein-coding gene	gene with protein product						12477932	Standard	NM_198491		Approved	FLJ44299	uc021tlz.1	Q6ZTR7		ENST00000539556.1:c.581C>T	16.37:g.85135890G>A	ENSP00000443411:p.Ala194Val						p.A194V	NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN			7	736	-			194						Missense_Mutation	SNP	ENST00000539556.1	37	c.581C>T	CCDS32500.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044850	0.75732	.	.	ENSG00000153789	ENST00000393246;ENST00000539556	T	0.60171	0.21	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000002	T	0.76550	0.4003	M	0.83603	2.65	0.39786	D	0.972368	D	0.76494	0.999	D	0.73380	0.98	T	0.80306	-0.1438	10	0.72032	D	0.01	-36.5122	13.1321	0.59389	0.0:0.1606:0.8394:0.0	.	194	Q6ZTR7	FA92B_HUMAN	V	194	ENSP00000443411:A194V	ENSP00000376937:A194V	A	-	2	0	FAM92B	83693391	1.000000	0.71417	1.000000	0.80357	0.458000	0.32498	5.033000	0.64146	2.745000	0.94114	0.555000	0.69702	GCC		0.473	FAM92B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_198491		12	35	0	0	0	1	0	12	35				
ZNF680	340252	broad.mit.edu	37	7	63981662	63981662	+	Silent	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr7:63981662G>A	ENST00000309683.6	-	4	1621	c.1470C>T	c.(1468-1470)taC>taT	p.Y490Y	ZNF680_ENST00000476563.1_5'Flank	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	490					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(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				CTTCACATTTGTAGGGTTTCT	0.383																																						ENST00000309683.6																			0				breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27						c.(1468-1470)taC>taT		zinc finger protein 680							65.0	67.0	66.0					7																	63981662		2203	4300	6503	SO:0001819	synonymous_variant	340252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63981662G>A	AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"""Zinc fingers, C2H2-type"", ""-"""	26897	protein-coding gene	gene with protein product	"""hypothetical protein FLJ90430"""					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.1470C>T	7.37:g.63981662G>A							p.Y490Y	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN			4	1621	-		Lung NSC(55;0.118)|all_lung(88;0.243)	490					B3KVJ4|Q6ZNF3|Q8NC79	Silent	SNP	ENST00000309683.6	37	c.1470C>T	CCDS34644.1																																																																																				0.383	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344568.1	NM_178558		6	102	0	0	0	1	0	6	102				
MRPL36	64979	broad.mit.edu	37	5	1798835	1798835	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr5:1798835A>G	ENST00000508987.1	-	2	351	c.215T>C	c.(214-216)cTt>cCt	p.L72P	MRPL36_ENST00000382647.7_Missense_Mutation_p.L72P|NDUFS6_ENST00000274137.5_5'Flank|MRPL36_ENST00000505818.1_Missense_Mutation_p.L72P|NDUFS6_ENST00000469176.1_5'Flank|MRPL36_ENST00000505059.2_Missense_Mutation_p.L72P			Q9P0J6	RM36_HUMAN	mitochondrial ribosomal protein L36	72					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	structural constituent of ribosome (GO:0003735)			breast(1)|lung(2)	3				GBM - Glioblastoma multiforme(108;0.241)		GCGCTTCTTAAGGACAGTCTT	0.592																																						ENST00000508987.1																			0				breast(1)|lung(2)	3						c.(214-216)cTt>cCt		mitochondrial ribosomal protein L36																																				SO:0001583	missense	64979				translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr5:1798835A>G	AB049654	CCDS3865.1	5p15.3	2012-09-13			ENSG00000171421	ENSG00000171421		"""Mitochondrial ribosomal proteins / large subunits"""	14490	protein-coding gene	gene with protein product	"""putative BRCA1-interacting protein"", ""39S ribosomal protein L36, mitochondrial"""	611842				11543634	Standard	NM_032479		Approved	BRIP1, RPMJ, L36mt, PRPL36, MRP-L36	uc003jcx.4	Q9P0J6	OTTHUMG00000090373	ENST00000508987.1:c.215T>C	5.37:g.1798835A>G	ENSP00000423399:p.Leu72Pro					MRPL36_ENST00000382647.7_Missense_Mutation_p.L72P|MRPL36_ENST00000505818.1_Missense_Mutation_p.L72P|MRPL36_ENST00000505059.2_Missense_Mutation_p.L72P	p.L72P			Q9P0J6	RM36_HUMAN		GBM - Glioblastoma multiforme(108;0.241)	2	351	-			72					A4UCS0|B2R4Z2|Q3SWV6|Q9UKL7	Missense_Mutation	SNP	ENST00000508987.1	37	c.215T>C	CCDS3865.1	.	.	.	.	.	.	.	.	.	.	A	12.71	2.019018	0.35606	.	.	ENSG00000171421	ENST00000505818;ENST00000382647;ENST00000505059;ENST00000508987	.	.	.	4.18	4.18	0.49190	.	0.571694	0.15199	N	0.275113	T	0.77818	0.4187	M	0.82132	2.575	0.49687	D	0.999816	D	0.76494	0.999	D	0.69307	0.963	T	0.79065	-0.1956	9	0.87932	D	0	-21.6527	10.8292	0.46650	1.0:0.0:0.0:0.0	.	72	Q9P0J6	RM36_HUMAN	P	72	.	ENSP00000372093:L72P	L	-	2	0	MRPL36	1851835	1.000000	0.71417	0.048000	0.18961	0.020000	0.10135	6.267000	0.72546	1.544000	0.49359	0.454000	0.30748	CTT		0.592	MRPL36-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365908.2	NM_032479		8	365	0	0	0	1	0	8	365				
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C	rs369310197		TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					protein targeting to Golgi (GO:0000042)			p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373																																						ENST00000409886.3																			6	Substitution - Missense(6)	p.N756D(6)	endometrium(6)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2266-2268)Aac>Gac		RANBP2-like and GRIP domain containing 3							164.0	133.0	142.0					2																	107049681		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049681T>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp					RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2353	-			756					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2266A>G	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		4	194	0	0	0	1	0	4	194				
NR1H3	10062	broad.mit.edu	37	11	47282969	47282969	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr11:47282969G>A	ENST00000467728.1	+	4	1915	c.677G>A	c.(676-678)cGg>cAg	p.R226Q	NR1H3_ENST00000481889.2_Missense_Mutation_p.R181Q|NR1H3_ENST00000405853.3_Missense_Mutation_p.R226Q|NR1H3_ENST00000405576.1_Missense_Mutation_p.R181Q|NR1H3_ENST00000441012.2_Missense_Mutation_p.R226Q|NR1H3_ENST00000395397.3_Missense_Mutation_p.R181Q|NR1H3_ENST00000527949.1_Missense_Mutation_p.R135Q|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000407404.1_Missense_Mutation_p.R226Q			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	226	Ligand-binding. {ECO:0000255}.				apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R226Q(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						CAGTGTAACCGGCGCTCCTTT	0.622																																						ENST00000467728.1																			1	Substitution - Missense(1)	p.R226Q(1)	ovary(1)	endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						c.(676-678)cGg>cAg		nuclear receptor subfamily 1, group H, member 3							56.0	54.0	54.0					11																	47282969		2201	4298	6499	SO:0001583	missense	10062				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	g.chr11:47282969G>A	U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.677G>A	11.37:g.47282969G>A	ENSP00000420656:p.Arg226Gln					NR1H3_ENST00000481889.2_Missense_Mutation_p.R181Q|NR1H3_ENST00000405853.3_Missense_Mutation_p.R226Q|NR1H3_ENST00000527949.1_Missense_Mutation_p.R135Q|NR1H3_ENST00000405576.1_Missense_Mutation_p.R181Q|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000441012.2_Missense_Mutation_p.R226Q|NR1H3_ENST00000395397.3_Missense_Mutation_p.R181Q|NR1H3_ENST00000407404.1_Missense_Mutation_p.R226Q	p.R226Q			Q13133	NR1H3_HUMAN			4	1915	+			226			Ligand-binding (Potential).		A8K3J9|D3DQR1|Q8IW13|Q96H87	Missense_Mutation	SNP	ENST00000467728.1	37	c.677G>A	CCDS7929.1	.	.	.	.	.	.	.	.	.	.	G	4.656	0.122010	0.08931	.	.	ENSG00000025434	ENST00000395397;ENST00000405576;ENST00000481889;ENST00000531660;ENST00000407404;ENST00000441012;ENST00000467728;ENST00000405853;ENST00000527949	D;D;D;T;D;D;D;D;D	0.95001	-3.58;-3.07;-3.0;0.92;-3.08;-3.58;-3.58;-3.08;-3.28	5.35	0.195	0.15151	Nuclear hormone receptor, ligand-binding (2);	0.490245	0.21912	N	0.067300	T	0.78394	0.4276	N	0.01705	-0.755	0.23459	N	0.997636	B;B;B;B;B	0.19583	0.0;0.0;0.0;0.037;0.001	B;B;B;B;B	0.08055	0.0;0.0;0.0;0.003;0.002	T	0.69453	-0.5141	10	0.09590	T	0.72	.	5.4135	0.16360	0.4661:0.0:0.4031:0.1308	.	232;181;226;181;226	B4DXU5;B5MBY7;Q13133;E9PLL4;Q13133-2	.;.;NR1H3_HUMAN;.;.	Q	181;181;181;92;226;226;226;226;135	ENSP00000378793:R181Q;ENSP00000385073:R181Q;ENSP00000433271:R181Q;ENSP00000434650:R92Q;ENSP00000385801:R226Q;ENSP00000387946:R226Q;ENSP00000420656:R226Q;ENSP00000384745:R226Q;ENSP00000432073:R135Q	ENSP00000378793:R181Q	R	+	2	0	NR1H3	47239545	0.938000	0.31826	0.247000	0.24249	0.929000	0.56500	1.643000	0.37217	-0.041000	0.13558	-0.732000	0.03574	CGG		0.622	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3			25	60	0	0	0	1	0	25	60				
UGT3A1	133688	broad.mit.edu	37	5	35954581	35954581	+	Splice_Site	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr5:35954581C>T	ENST00000274278.3	-	7	1653		c.e7-1		UGT3A1_ENST00000513233.1_5'Flank	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1							integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CGACTTGTACCTGTTGGCGGA	0.547																																						ENST00000274278.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46						c.e7-1		UDP glycosyltransferase 3 family, polypeptide A1							38.0	35.0	36.0					5																	35954581		2203	4300	6503	SO:0001630	splice_region_variant	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35954581C>T		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.1296-1G>A	5.37:g.35954581C>T								NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1653	-	all_lung(31;0.000197)							G5E961|Q8IYS9|Q8NAW4|Q96DM6	Splice_Site	SNP	ENST00000274278.3	37		CCDS3913.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.302758	0.23736	.	.	ENSG00000145626	ENST00000274278	.	.	.	3.39	3.39	0.38822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4126	0.67124	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UGT3A1	35990338	1.000000	0.71417	0.998000	0.56505	0.074000	0.17049	5.627000	0.67784	1.844000	0.53588	0.411000	0.27672	.		0.547	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404	Intron	6	26	0	0	0	1	0	6	26				
MAEL	84944	broad.mit.edu	37	1	166962019	166962019	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr1:166962019G>A	ENST00000367872.4	+	4	666	c.422G>A	c.(421-423)tGt>tAt	p.C141Y	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.C110Y	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	141					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GAAATTGGCTGTGTTAAGTAT	0.398																																						ENST00000367872.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						c.(421-423)tGt>tAt		maelstrom spermatogenic transposon silencer							114.0	113.0	114.0					1																	166962019		2203	4300	6503	SO:0001583	missense	84944				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	g.chr1:166962019G>A	AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.422G>A	1.37:g.166962019G>A	ENSP00000356846:p.Cys141Tyr					MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.C110Y	p.C141Y	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN			4	666	+			141					B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	ENST00000367872.4	37	c.422G>A	CCDS1257.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985452	0.74589	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000447624	T;T;T	0.50277	0.75;0.76;0.82	5.65	5.65	0.86999	Domain of unknown function DUF1898 (1);	0.000000	0.64402	D	0.000001	T	0.51210	0.1661	L	0.27053	0.805	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.57021	-0.7882	10	0.87932	D	0	.	18.5057	0.90896	0.0:0.0:1.0:0.0	.	110;141	E9JVC3;Q96JY0	.;MAEL_HUMAN	Y	141;110;110	ENSP00000356846:C141Y;ENSP00000356844:C110Y;ENSP00000402143:C110Y	ENSP00000356844:C110Y	C	+	2	0	MAEL	165228643	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.561000	0.73955	2.660000	0.90430	0.467000	0.42956	TGT		0.398	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858		21	87	0	0	0	1	0	21	87				
PHLPP2	23035	broad.mit.edu	37	16	71701133	71701133	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr16:71701133G>A	ENST00000568954.1	-	12	2110	c.1732C>T	c.(1732-1734)Cag>Tag	p.Q578*	PHLPP2_ENST00000356272.3_Nonsense_Mutation_p.Q578*|PHLPP2_ENST00000567016.1_Nonsense_Mutation_p.Q613*|PHLPP2_ENST00000360429.3_Nonsense_Mutation_p.Q578*|RNU6-208P_ENST00000362431.1_RNA|PHLPP2_ENST00000393524.2_Nonsense_Mutation_p.Q578*			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	578					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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GCATTATGCTGAAGATCCAGC	0.463																																						ENST00000393524.2																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(1732-1734)Cag>Tag		PH domain and leucine rich repeat protein phosphatase 2							135.0	117.0	123.0					16																	71701133		2198	4300	6498	SO:0001587	stop_gained	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71701133G>A	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.1732C>T	16.37:g.71701133G>A	ENSP00000457991:p.Gln578*					PHLPP2_ENST00000360429.3_Nonsense_Mutation_p.Q578*|PHLPP2_ENST00000356272.3_Nonsense_Mutation_p.Q578*|PHLPP2_ENST00000568954.1_Nonsense_Mutation_p.Q578*|PHLPP2_ENST00000567016.1_Nonsense_Mutation_p.Q613*	p.Q578*			Q6ZVD8	PHLP2_HUMAN			11	2465	-			652					A1L374|Q9NV17|Q9Y2E3	Nonsense_Mutation	SNP	ENST00000568954.1	37	c.1732C>T	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	G	33	5.256000	0.95336	.	.	ENSG00000040199	ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524	.	.	.	5.85	5.85	0.93711	.	0.110931	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-14.1042	19.1545	0.93504	0.0:0.0:1.0:0.0	.	.	.	.	X	385;578;578;578	.	ENSP00000299971:Q385X	Q	-	1	0	PHLPP2	70258634	1.000000	0.71417	0.977000	0.42913	0.310000	0.27922	8.854000	0.92228	2.773000	0.95371	0.585000	0.79938	CAG		0.463	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		24	43	0	0	0	1	0	24	43				
DCTN2	10540	broad.mit.edu	37	12	57924490	57924490	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr12:57924490C>T	ENST00000548249.1	-	14	1455	c.1188G>A	c.(1186-1188)atG>atA	p.M396I	DCTN2_ENST00000537439.1_Missense_Mutation_p.M373I|DCTN2_ENST00000543672.1_Missense_Mutation_p.M401I|DCTN2_ENST00000434715.3_Missense_Mutation_p.M401I	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	396					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|vesicle (GO:0031982)	motor activity (GO:0003774)|spectrin binding (GO:0030507)			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						CCAGCTTCTTCATCCGTTCAT	0.478																																						ENST00000548249.1																			0				endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						c.(1186-1188)atG>atA		dynactin 2 (p50)							170.0	162.0	164.0					12																	57924490		1910	4149	6059	SO:0001583	missense	10540				cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding	g.chr12:57924490C>T	U50733	CCDS44930.1, CCDS58245.1, CCDS73489.1	12q13.3	2008-05-14				ENSG00000175203			2712	protein-coding gene	gene with protein product		607376				8647893	Standard	NM_001261412		Approved	RBP50, DCTN-50	uc001som.2	Q13561	OTTHUMG00000170124	ENST00000548249.1:c.1188G>A	12.37:g.57924490C>T	ENSP00000447824:p.Met396Ile					DCTN2_ENST00000543672.1_Missense_Mutation_p.M401I|DCTN2_ENST00000537439.1_Missense_Mutation_p.M373I|DCTN2_ENST00000434715.3_Missense_Mutation_p.M401I	p.M396I	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN			14	1455	-			396					B2RBK5|Q86YN2|Q9BW17	Missense_Mutation	SNP	ENST00000548249.1	37	c.1188G>A	CCDS58245.1	.	.	.	.	.	.	.	.	.	.	C	4.394	0.072715	0.08436	.	.	ENSG00000175203	ENST00000548249;ENST00000434715;ENST00000543672;ENST00000537439;ENST00000354743;ENST00000543105;ENST00000546758	.	.	.	4.98	4.98	0.66077	.	0.038742	0.85682	D	0.000000	T	0.25791	0.0628	N	0.04787	-0.16	0.58432	D	0.999996	B;B;B	0.11235	0.002;0.004;0.003	B;B;B	0.08055	0.002;0.002;0.003	T	0.17776	-1.0358	9	0.02654	T	1	-19.561	11.0474	0.47867	0.0:0.9135:0.0:0.0865	.	372;401;396	F8WAG8;F5H2S7;Q13561	.;.;DCTN2_HUMAN	I	396;401;401;373;372;309;263	.	ENSP00000346785:M372I	M	-	3	0	DCTN2	56210757	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.636000	0.54317	2.750000	0.94351	0.655000	0.94253	ATG		0.478	DCTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407393.2	NM_006400		58	39	0	0	0	1	0	58	39				
MT-CO3	4514	broad.mit.edu	37	M	9367	9367	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chrM:9367T>C	ENST00000362079.2	+	1	161	c.161T>C	c.(160-162)aTa>aCa	p.I54T	MT-TK_ENST00000387421.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-TR_ENST00000387439.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-ND4L_ENST00000361335.1_5'Flank|MT-TD_ENST00000387419.1_RNA			P00414	COX3_HUMAN	mitochondrially encoded cytochrome c oxidase III	54					aerobic electron transport chain (GO:0019646)|cellular metabolic process (GO:0044237)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)			breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						CACACTAACCATATACCAATG	0.498																																						ENST00000362079.2																			0				breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						c.(160-162)aTa>aCa		mitochondrially encoded cytochrome c oxidase III																																				SO:0001583	missense	4514							g.chrM:9367T>C			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198938	ENSG00000198938		"""Mitochondrial respiratory chain complex / Complex IV"""	7422	protein-coding gene	gene with protein product		516050	"""cytochrome c oxidase III"""	MTCO3			Standard			Approved	COX3, COIII, CO3		P00414		ENST00000362079.2:c.161T>C	M.37:g.9367T>C	ENSP00000354982:p.Ile54Thr						p.54_54insT							1	161	+								Q14Y83	Missense_Mutation	SNP	ENST00000362079.2	37	c.161T>C																																																																																					0.498	MT-CO3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024032		76	68	0	0	0	1	0	76	68				
RB1	5925	broad.mit.edu	37	13	48881414	48881414	+	Splice_Site	SNP	A	A	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr13:48881414A>G	ENST00000267163.4	+	2	275		c.e2-1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TTCATTTGGTAGGCTTGAGTT	0.313		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		16	Whole gene deletion(15)|Unknown(1)	p.0?(15)|p.?(1)	bone(10)|breast(2)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CS040288	RB1	S		c.e2-1		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						97.0	96.0	97.0					13																	48881414		2203	4299	6502	SO:0001630	splice_region_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48881414A>G	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.138-1A>G	13.37:g.48881414A>G		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)						NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	2	275	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)						A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	SNP	ENST00000267163.4	37		CCDS31973.1	.	.	.	.	.	.	.	.	.	.	A	17.33	3.361707	0.61403	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0932	0.48128	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RB1	47779415	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	4.336000	0.59304	1.923000	0.55706	0.528000	0.53228	.		0.313	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		Intron	21	2	0	0	0	1	0	21	2				
SERPINA6	866	broad.mit.edu	37	14	94770860	94770860	+	Silent	SNP	C	C	T	rs191026012	byFrequency	TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr14:94770860C>T	ENST00000341584.3	-	5	1259	c.1113G>A	c.(1111-1113)acG>acA	p.T371T		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	371					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TAGGCTTGGACGTCAGGTTTA	0.522													C|||	7	0.00139776	0.0	0.0	5008	,	,		20835	0.0069		0.0	False		,,,				2504	0.0					ENST00000341584.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26						c.(1111-1113)acG>acA		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)						207.0	162.0	177.0					14																	94770860		2203	4300	6503	SO:0001819	synonymous_variant	866				regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	g.chr14:94770860C>T	J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"""Serine (or cysteine) peptidase inhibitors"""	1540	protein-coding gene	gene with protein product	"""corticosteroid binding globulin"", ""transcortin"""	122500	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"""	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.1113G>A	14.37:g.94770860C>T							p.T371T	NM_001756.3	NP_001747.2	P08185	CBG_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	5	1259	-		all_cancers(154;0.0482)|all_epithelial(191;0.166)	371					A8K456|Q7Z2Q9	Silent	SNP	ENST00000341584.3	37	c.1113G>A	CCDS9924.1																																																																																				0.522	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1	NM_001756		36	19	0	0	0	1	0	36	19				
AGMO	392636	broad.mit.edu	37	7	15405139	15405139	+	Splice_Site	SNP	C	C	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr7:15405139C>A	ENST00000342526.3	-	12	1432	c.1263G>T	c.(1261-1263)gaG>gaT	p.E421D		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	421					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						AATGTCTTACCTCAAAAGCAG	0.408																																						ENST00000342526.3																			0				breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						c.e12+1		alkylglycerol monooxygenase							88.0	80.0	83.0					7																	15405139		2203	4300	6503	SO:0001630	splice_region_variant	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15405139C>A		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.1263+1G>T	7.37:g.15405139C>A							p.E421_splice	NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN			12	1432	-			421					A4D114|A6NCH5	Splice_Site	SNP	ENST00000342526.3	37	c.1263_splice	CCDS34604.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.38|13.38	2.220975|2.220975	0.39201|0.39201	.|.	.|.	ENSG00000187546|ENSG00000187546	ENST00000342526;ENST00000418075|ENST00000407277	T|.	0.31769|.	1.48|.	5.63|5.63	4.75|4.75	0.60458|0.60458	.|.	0.187457|.	0.44097|.	D|.	0.000486|.	T|T	0.63129|0.63129	0.2485|0.2485	M|M	0.61703|0.61703	1.905|1.905	0.39925|0.39925	D|D	0.974204|0.974204	D|.	0.60575|.	0.988|.	P|.	0.54759|.	0.76|.	T|T	0.63915|0.63915	-0.6529|-0.6529	9|5	.|.	.|.	.|.	-25.221|-25.221	10.1328|10.1328	0.42689|0.42689	0.0:0.8417:0.0:0.1583|0.0:0.8417:0.0:0.1583	.|.	421|.	Q6ZNB7|.	ALKMO_HUMAN|.	D|F	421;63|52	ENSP00000341662:E421D|.	.|.	E|V	-|-	3|1	2|0	AGMO|AGMO	15371664|15371664	1.000000|1.000000	0.71417|0.71417	0.885000|0.885000	0.34714|0.34714	0.004000|0.004000	0.04260|0.04260	3.152000|3.152000	0.50677|0.50677	1.377000|1.377000	0.46286|0.46286	-0.140000|-0.140000	0.14226|0.14226	GAG|GTC		0.408	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320	Missense_Mutation	30	34	1	0	7.26314e-15	1	8.16239e-15	30	34				
IRX2	153572	broad.mit.edu	37	5	2749656	2749656	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr5:2749656G>C	ENST00000382611.6	-	2	743	c.495C>G	c.(493-495)ttC>ttG	p.F165L	C5orf38_ENST00000505778.1_5'Flank|C5orf38_ENST00000397835.4_5'Flank|IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000334000.3_5'Flank|C5orf38_ENST00000457752.2_5'Flank|C5orf38_ENST00000515640.1_5'Flank|IRX2_ENST00000302057.5_Missense_Mutation_p.F165L	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	165					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		GCGCGTTGGCGAACCAGGTGG	0.597																																						ENST00000382611.6																			0				breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26						c.(493-495)ttC>ttG		iroquois homeobox 2							161.0	141.0	148.0					5																	2749656		2203	4298	6501	SO:0001583	missense	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2749656G>C	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.495C>G	5.37:g.2749656G>C	ENSP00000372056:p.Phe165Leu					IRX2_ENST00000302057.5_Missense_Mutation_p.F165L|IRX2_ENST00000502957.1_5'UTR	p.F165L	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	2	743	-			165					Q68A19|Q7Z2I7	Missense_Mutation	SNP	ENST00000382611.6	37	c.495C>G	CCDS3868.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173469	0.78452	.	.	ENSG00000170561	ENST00000382611;ENST00000302057;ENST00000502957	D;D;D	0.96745	-4.11;-4.11;-4.11	4.85	2.65	0.31530	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97666	0.9235	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97532	1.0080	10	0.87932	D	0	-18.5457	10.4329	0.44417	0.3012:0.0:0.6988:0.0	.	165	Q9BZI1	IRX2_HUMAN	L	165;165;72	ENSP00000372056:F165L;ENSP00000307006:F165L;ENSP00000426151:F72L	ENSP00000307006:F165L	F	-	3	2	IRX2	2802656	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.170000	0.42443	1.020000	0.39573	0.655000	0.94253	TTC		0.597	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			47	873	0	0	0	1	0	47	873				
TP53	7157	broad.mit.edu	37	17	7577097	7577097	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr17:7577097C>T	ENST00000269305.4	-	8	1030	c.841G>A	c.(841-843)Gac>Aac	p.D281N	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.D281N|TP53_ENST00000445888.2_Missense_Mutation_p.D281N|TP53_ENST00000455263.2_Missense_Mutation_p.D281N|TP53_ENST00000420246.2_Missense_Mutation_p.D281N	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	281	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.D281N(25)|p.D281H(19)|p.D281Y(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGCGCCGGTCTCTCCCAGGA	0.547		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		86	Substitution - Missense(61)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(2)|Complex - insertion inframe(2)	p.D281N(25)|p.D281H(19)|p.D281Y(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	lung(14)|breast(13)|upper_aerodigestive_tract(8)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(8)|large_intestine(6)|ovary(5)|bone(5)|liver(5)|stomach(4)|central_nervous_system(3)|kidney(2)|skin(2)|biliary_tract(1)|endometrium(1)|oesophagus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM076566	TP53	M		c.(841-843)Gac>Aac	Other conserved DNA damage response genes	tumor protein p53							80.0	69.0	73.0					17																	7577097		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577097C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.841G>A	17.37:g.7577097C>T	ENSP00000269305:p.Asp281Asn	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.D281N|TP53_ENST00000455263.2_Missense_Mutation_p.D281N|TP53_ENST00000359597.4_Missense_Mutation_p.D281N|TP53_ENST00000445888.2_Missense_Mutation_p.D281N|TP53_ENST00000413465.2_Intron	p.D281N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	973	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	281		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.841G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	36	5.610260	0.96637	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.33;-7.33;-7.33;-7.33;-7.33;-7.33	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99885	0.9945	M	0.92649	3.33	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.999;0.993	D;D;D;D	0.97110	0.989;1.0;0.989;0.983	D	0.96400	0.9296	10	0.87932	D	0	-25.6697	16.1198	0.81342	0.0:1.0:0.0:0.0	.	281;281;281;281	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	N	281;281;281;281;281;270;149	ENSP00000352610:D281N;ENSP00000269305:D281N;ENSP00000398846:D281N;ENSP00000391127:D281N;ENSP00000391478:D281N;ENSP00000425104:D149N	ENSP00000269305:D281N	D	-	1	0	TP53	7517822	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GAC		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	5	0	0	0	1	0	18	5				
HIST1H2BJ	8970	broad.mit.edu	37	6	27100485	27100485	+	Silent	SNP	G	G	A	rs115912638	byFrequency	TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr6:27100485G>A	ENST00000607124.1	-	1	44	c.45C>T	c.(43-45)tcC>tcT	p.S15S	HIST1H2BJ_ENST00000339812.2_Silent_p.S15S|HIST1H2BJ_ENST00000541790.1_Silent_p.S15S|HIST1H2AG_ENST00000359193.2_5'Flank			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	15					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						CCGCCTTCTTGGAGCCCTTTT	0.537													G|||	15	0.00299521	0.0	0.0	5008	,	,		17563	0.0149		0.0	False		,,,				2504	0.0					ENST00000607124.1																			0				breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						c.(43-45)tcC>tcT		histone cluster 1, H2bj							91.0	92.0	91.0					6																	27100485		2203	4300	6503	SO:0001819	synonymous_variant	8970				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27100485G>A	X00088	CCDS4618.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000124635	ENSG00000124635		"""Histones / Replication-dependent"""	4761	protein-coding gene	gene with protein product		615044	"""H2B histone family, member R"", ""histone 1, H2bj"""	H2BFR		6647026, 12408966	Standard	NM_021058		Approved	H2B/r	uc003niv.3	P06899	OTTHUMG00000014470	ENST00000607124.1:c.45C>T	6.37:g.27100485G>A						HIST1H2BJ_ENST00000339812.2_Silent_p.S15S|HIST1H2BJ_ENST00000541790.1_Silent_p.S15S	p.S15S			P06899	H2B1J_HUMAN			1	44	-			15					B2R4J4|O60816	Silent	SNP	ENST00000607124.1	37	c.45C>T	CCDS4618.1																																																																																				0.537	HIST1H2BJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040138.2	NM_021058		41	160	0	0	0	1	0	41	160				
APCDD1	147495	broad.mit.edu	37	18	10487757	10487757	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr18:10487757G>A	ENST00000355285.5	+	5	1621	c.1267G>A	c.(1267-1269)Gag>Aag	p.E423K		NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1											NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		CACGGAGTACGAGATCTTCAA	0.627																																						ENST00000355285.4																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1267-1269)Gag>Aag		adenomatosis polyposis coli down-regulated 1							80.0	73.0	76.0					18																	10487757		2203	4300	6503	SO:0001583	missense	147495				hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding	g.chr18:10487757G>A	AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.1267G>A	18.37:g.10487757G>A	ENSP00000347433:p.Glu423Lys						p.E423K	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN		READ - Rectum adenocarcinoma(15;0.08)	5	1621	+			423						Missense_Mutation	SNP	ENST00000355285.5	37	c.1267G>A	CCDS11849.1	.	.	.	.	.	.	.	.	.	.	G	34	5.396806	0.96009	.	.	ENSG00000154856	ENST00000355285;ENST00000423585	T	0.16073	2.37	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.47078	0.1426	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.52056	-0.8626	10	0.87932	D	0	-34.143	18.8049	0.92032	0.0:0.0:1.0:0.0	.	423	Q8J025	APCD1_HUMAN	K	423;474	ENSP00000347433:E423K	ENSP00000347433:E423K	E	+	1	0	APCDD1	10477757	1.000000	0.71417	0.990000	0.47175	0.984000	0.73092	9.416000	0.97383	2.496000	0.84212	0.563000	0.77884	GAG		0.627	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254529.2	NM_153000		27	167	0	0	0	1	0	27	167				
ZBTB11	27107	broad.mit.edu	37	3	101395550	101395550	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr3:101395550C>T	ENST00000312938.4	-	1	789	c.209G>A	c.(208-210)cGa>cAa	p.R70Q	ZBTB11_ENST00000461821.1_Missense_Mutation_p.R70Q|ZBTB11-AS1_ENST00000536865.1_RNA|ZBTB11-AS1_ENST00000609682.1_RNA	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	70					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(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GTCCCGGCGTCGCTCCGGCTG	0.692																																						ENST00000312938.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(208-210)cGa>cAa		zinc finger and BTB domain containing 11							12.0	14.0	14.0					3																	101395550		2187	4278	6465	SO:0001583	missense	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101395550C>T	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.209G>A	3.37:g.101395550C>T	ENSP00000326200:p.Arg70Gln					ZBTB11_ENST00000461821.1_Missense_Mutation_p.R70Q|ZBTB11-AS1_ENST00000536865.1_Missense_Mutation_p.S21L	p.R70Q	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN			1	789	-			70					Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	37	c.209G>A	CCDS2943.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.109404|5.109404	0.94292|0.94292	.|.	.|.	ENSG00000066422|ENSG00000256628	ENST00000312938;ENST00000461821|ENST00000536865	T;T|.	0.38722|.	1.12;1.12|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|0.257565	.|0.20226	.|U	.|0.096598	T|T	0.59689|0.59689	0.2212|0.2212	L|L	0.50333|0.50333	1.59|1.59	0.58432|0.58432	D|D	0.999999|0.999999	B;D|B	0.89917|0.27700	0.336;1.0|0.186	B;D|B	0.80764|0.19148	0.082;0.994|0.024	T|T	0.60546|0.60546	-0.7242|-0.7242	9|9	0.87932|0.87932	D|D	0|0	-10.8058|-10.8058	19.2119|19.2119	0.93758|0.93758	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	70;70|21	C9J2L2;O95625|Q9BTX9	.;ZBT11_HUMAN|YC010_HUMAN	Q|L	70|21	ENSP00000326200:R70Q;ENSP00000417369:R70Q|.	ENSP00000326200:R70Q|ENSP00000444544:S21L	R|S	-|+	2|2	0|0	ZBTB11|AC084198.1	102878240|102878240	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.211000|5.211000	0.65219|0.65219	2.542000|2.542000	0.85734|0.85734	0.591000|0.591000	0.81541|0.81541	CGA|TCG		0.692	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		13	1	0	0	0	1	0	13	1				
C10orf2	56652	broad.mit.edu	37	10	102748377	102748377	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr10:102748377G>T	ENST00000311916.2	+	1	595	c.410G>T	c.(409-411)aGg>aTg	p.R137M	C10orf2_ENST00000473656.1_Intron|MRPL43_ENST00000370236.1_5'Flank|MRPL43_ENST00000370242.4_5'Flank|C10orf2_ENST00000370228.1_Missense_Mutation_p.R137M|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000477279.1_5'Flank|MRPL43_ENST00000299179.5_5'Flank|MRPL43_ENST00000342071.1_5'Flank|MRPL43_ENST00000318325.2_5'Flank|MRPL43_ENST00000370241.3_5'Flank|MRPL43_ENST00000370234.4_5'Flank|MRPL43_ENST00000318364.8_5'Flank	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	137					cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GATGGGGCCAGGGAGGGGTTT	0.592																																						ENST00000370228.1																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24						c.(409-411)aGg>aTg		chromosome 10 open reading frame 2							98.0	116.0	110.0					10																	102748377		2203	4300	6503	SO:0001583	missense	56652				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding	g.chr10:102748377G>T	AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"""twinkle"", ""T7 helicase-related protein with intramitochondrial nucleoid localization"""	606075	"""infantile onset spinocerebellar ataxia (autosomal recessive)"""	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.410G>T	10.37:g.102748377G>T	ENSP00000309595:p.Arg137Met					C10orf2_ENST00000311916.2_Missense_Mutation_p.R137M|C10orf2_ENST00000473656.1_Intron	p.R137M	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)	1	595	+		Colorectal(252;0.122)|all_hematologic(284;0.152)	137					B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Missense_Mutation	SNP	ENST00000311916.2	37	c.410G>T	CCDS7506.1	.	.	.	.	.	.	.	.	.	.	G	0.983	-0.696460	0.03279	.	.	ENSG00000107815	ENST00000311916;ENST00000370228	D;D	0.94966	-3.28;-3.57	5.7	0.0375	0.14196	.	0.593275	0.19384	N	0.115598	D	0.87450	0.6180	L	0.34521	1.04	0.09310	N	1	P;P	0.39696	0.683;0.556	B;B	0.36418	0.224;0.112	T	0.78573	-0.2152	10	0.30078	T	0.28	-14.7249	7.3625	0.26754	0.3949:0.1124:0.4927:0.0	.	137;137	Q96RR1-2;Q96RR1	.;PEO1_HUMAN	M	137	ENSP00000309595:R137M;ENSP00000359248:R137M	ENSP00000309595:R137M	R	+	2	0	C10orf2	102738367	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	-0.099000	0.11007	-0.186000	0.10533	-1.644000	0.00765	AGG		0.592	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049886.1	NM_021830		15	255	1	0	0.000422831	1	0.000449496	15	255				
TOX	9760	broad.mit.edu	37	8	59728107	59728107	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr8:59728107C>A	ENST00000361421.1	-	7	1402	c.1182G>T	c.(1180-1182)agG>agT	p.R394S	RNU4-50P_ENST00000364361.1_RNA	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	394						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GGGCTATGTTCCTGGGGAGAC	0.567																																					Pancreas(161;610 1969 17913 21374 22725)	ENST00000361421.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33						c.(1180-1182)agG>agT		thymocyte selection-associated high mobility group box							156.0	136.0	143.0					8																	59728107		2203	4300	6503	SO:0001583	missense	9760					nucleus	DNA binding	g.chr8:59728107C>A		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.1182G>T	8.37:g.59728107C>A	ENSP00000354842:p.Arg394Ser						p.R394S	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN			7	1402	-		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)	394					Q96AV5	Missense_Mutation	SNP	ENST00000361421.1	37	c.1182G>T	CCDS34897.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.674103	0.47781	.	.	ENSG00000198846	ENST00000361421;ENST00000456290	T	0.14391	2.51	5.98	2.17	0.27698	.	0.000000	0.85682	D	0.000000	T	0.09730	0.0239	N	0.24115	0.695	0.52099	D	0.999943	D	0.53885	0.963	B	0.44224	0.444	T	0.20240	-1.0281	9	.	.	.	.	10.3107	0.43706	0.0:0.731:0.0:0.269	.	394	O94900	TOX_HUMAN	S	394;144	ENSP00000354842:R394S	.	R	-	3	2	TOX	59890661	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.556000	0.45862	0.423000	0.26033	-0.229000	0.12294	AGG		0.567	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729		25	50	1	0	1.55469e-16	1	1.76398e-16	25	50				
CNTNAP4	85445	broad.mit.edu	37	16	76587181	76587181	+	Splice_Site	SNP	A	A	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr16:76587181A>G	ENST00000476707.1	+	21	3592	c.3453A>G	c.(3451-3453)gaA>gaG	p.E1151E	CNTNAP4_ENST00000478060.1_Splice_Site_p.E1075E|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Splice_Site_p.E1147E|RP11-58C22.1_ENST00000563764.1_5'Flank|CNTNAP4_ENST00000377504.4_Splice_Site_p.E1099E			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1148	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AATTTCTAGAACACAGTGATG	0.478																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.e23-1		contactin associated protein-like 4							28.0	28.0	28.0					16																	76587181		1940	4149	6089	SO:0001630	splice_region_variant	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76587181A>G	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.3452-1A>G	16.37:g.76587181A>G						CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Splice_Site_p.E1099_splice|CNTNAP4_ENST00000476707.1_Splice_Site_p.E1151_splice|CNTNAP4_ENST00000478060.1_Splice_Site_p.E1075_splice	p.E1147_splice	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			23	3826	+			1148			Laminin G-like 4.		E9PFZ6|Q86YZ7	Splice_Site	SNP	ENST00000476707.1	37	c.3439_splice																																																																																					0.478	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401	Silent	6	8	0	0	0	1	0	6	8				
OR9G1	390174	broad.mit.edu	37	11	56468604	56468604	+	Silent	SNP	C	C	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr11:56468604C>A	ENST00000312153.1	+	1	741	c.741C>A	c.(739-741)gtC>gtA	p.V247V		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						TGACCTCTGTCACTTTATACT	0.453																																						ENST00000312153.1																			0				breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(739-741)gtC>gtA		olfactory receptor, family 9, subfamily G, member 1							237.0	244.0	242.0					11																	56468604		2201	4296	6497	SO:0001819	synonymous_variant	390174							g.chr11:56468604C>A	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.741C>A	11.37:g.56468604C>A							p.V247V	NM_001005213.1	NP_001005213.1					1	741	+								Q6IEU9|Q8NGQ0	Silent	SNP	ENST00000312153.1	37	c.741C>A	CCDS31536.1																																																																																				0.453	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		36	211	1	0	2.20474e-14	1	2.45433e-14	36	211				
GTF3C1	2975	broad.mit.edu	37	16	27503992	27503992	+	Silent	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr16:27503992G>A	ENST00000356183.4	-	18	2934	c.2919C>T	c.(2917-2919)tgC>tgT	p.C973C	GTF3C1_ENST00000561623.1_Silent_p.C973C	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	973					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCCCCATGTAGCACAGCCTCT	0.512																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(2917-2919)tgC>tgT		general transcription factor IIIC, polypeptide 1, alpha 220kDa							131.0	133.0	133.0					16																	27503992		2197	4300	6497	SO:0001819	synonymous_variant	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27503992G>A	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.2919C>T	16.37:g.27503992G>A						GTF3C1_ENST00000561623.1_Silent_p.C973C	p.C973C	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			18	2934	-			973					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP	ENST00000356183.4	37	c.2919C>T	CCDS32414.1																																																																																				0.512	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		83	80	0	0	0	1	0	83	80				
SPTBN4	57731	broad.mit.edu	37	19	41072112	41072112	+	Silent	SNP	T	T	C			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr19:41072112T>C	ENST00000352632.3	+	30	6269	c.6183T>C	c.(6181-6183)gaT>gaC	p.D2061D	SPTBN4_ENST00000392025.1_Silent_p.D804D|SPTBN4_ENST00000598249.1_Silent_p.D2061D|SPTBN4_ENST00000338932.3_Silent_p.D2061D			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2061					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGTGGCTGATGCCTGGCTGA	0.667																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(6181-6183)gaT>gaC		spectrin, beta, non-erythrocytic 4							26.0	24.0	25.0					19																	41072112		2154	4219	6373	SO:0001819	synonymous_variant	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41072112T>C	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.6183T>C	19.37:g.41072112T>C						SPTBN4_ENST00000338932.3_Silent_p.D2061D|SPTBN4_ENST00000392025.1_Silent_p.D804D|SPTBN4_ENST00000598249.1_Silent_p.D2061D	p.D2061D			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		30	6269	+			2061					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	c.6183T>C	CCDS12559.1																																																																																				0.667	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			4	4	0	0	0	1	0	4	4				
LOC101927209	101927209	broad.mit.edu	37	1	142648461	142648462	+	lincRNA	INS	-	-	T	rs149586890|rs147849903	byFrequency	TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr1:142648461_142648462insT	ENST00000610091.1	-	0	3560				RP11-417J8.3_ENST00000426408.1_lincRNA																							taatttttgtattttttttttg	0.475													|||unknown(HR)	2767	0.552516	0.3956	0.6931	5008	,	,		33428	0.5179		0.6938	False		,,,				2504	0.5552					ENST00000369381.2																			0																																																			0							g.chr1:142648461_142648462insT																													1.37:g.142648471_142648471dupT						RP11-417J8.3_ENST00000426408.1_lincRNA								0	2507	-									RNA	INS	ENST00000610091.1	37																																																																																						0.475	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			4	2						4	2	---	---	---	---
RP11-403I13.4	0	broad.mit.edu	37	1	149250552	149250553	+	lincRNA	INS	-	-	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr1:149250552_149250553insA	ENST00000325963.8	+	0	597_598																											AAACTGAGAAGAAAAAAAAAGA	0.416																																						ENST00000325963.8																			0																																																			0							g.chr1:149250552_149250553insA																													1.37:g.149250561_149250561dupA														0	597_598	+									RNA	INS	ENST00000325963.8	37																																																																																						0.416	RP11-403I13.4-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000099551.1			2	4						2	4	---	---	---	---
KIF14	9928	broad.mit.edu	37	1	200584490	200584491	+	Frame_Shift_Ins	INS	-	-	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr1:200584490_200584491insT	ENST00000367350.4	-	3	1797_1798	c.1359_1360insA	c.(1357-1362)aaatcafs	p.S454fs		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	454	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TACGTATATGATTTTCCAGAGC	0.381																																						ENST00000367350.4																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						c.(1357-1362)aacatafs		kinesin family member 14																																				SO:0001589	frameshift_variant	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200584490_200584491insT	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.1360dupA	1.37:g.200584494_200584494dupT	ENSP00000356319:p.Ser454fs						p.NI453fs	NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN			3	1797_1798	-			453			Kinesin-motor.		Q14CI8|Q4G0A5|Q5T1W3	Frame_Shift_Ins	INS	ENST00000367350.4	37	c.1359_1360insA	CCDS30963.1																																																																																				0.381	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		38	50						38	50	---	---	---	---
TAF1B	9014	broad.mit.edu	37	2	9989571	9989571	+	Frame_Shift_Del	DEL	A	A	-	rs528368939		TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr2:9989571delA	ENST00000263663.5	+	3	375	c.187delA	c.(187-189)aaafs	p.K65fs	TAF1B_ENST00000396242.3_5'UTR|TAF1B_ENST00000402170.1_3'UTR	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	65	B-reader.				gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCGGGGGCTTAAAAAAAAAAA	0.333																																						ENST00000263663.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(187-189)aafs		TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa				139,495,3606		1,2,135,2,489,1491	20.0	22.0	21.0			1.7	0.9	2		23	207,946,7081		0,0,207,0,946,2964	no	codingComplex	TAF1B	NM_005680.2		1,2,342,2,1435,4455	A1A1,A1A2,A1R,A2A2,A2R,RR		14.0029,14.9528,14.3258			9989571	346,1441,10687	2194	4292	6486	SO:0001589	frameshift_variant	9014				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:9989571delA	L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"""			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.187delA	2.37:g.9989571delA	ENSP00000263663:p.Lys65fs					TAF1B_ENST00000402170.1_3'UTR|TAF1B_ENST00000396242.3_5'UTR	p.K65fs	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN			3	375	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		65					B4DI42|F8WD72|Q15574|Q8WVC3	Frame_Shift_Del	DEL	ENST00000263663.5	37	c.187delA	CCDS33143.1																																																																																				0.333	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2	NM_005680		4	7						4	7	---	---	---	---
HAT1	8520	broad.mit.edu	37	2	172822005	172822007	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr2:172822005_172822007delAGG	ENST00000264108.4	+	5	492_494	c.456_458delAGG	c.(454-459)acagga>aca	p.G154del	HAT1_ENST00000392584.1_In_Frame_Del_p.G69del|SLC25A12_ENST00000472748.1_Intron	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	154					chromatin organization (GO:0006325)|chromatin silencing at telomere (GO:0006348)|DNA packaging (GO:0006323)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4 acetylation (GO:0043967)|internal protein amino acid acetylation (GO:0006475)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	H4 histone acetyltransferase activity (GO:0010485)|histone acetyltransferase activity (GO:0004402)			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TCAGTCCAACAGGAGGAGAAAAC	0.335																																						ENST00000264108.4																			0				breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19						c.(454-459)aca>ac		histone acetyltransferase 1																																				SO:0001651	inframe_deletion	8520				chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding	g.chr2:172822005_172822007delAGG	AF030424	CCDS2245.1	2q31.2-q33.1	2011-07-01			ENSG00000128708	ENSG00000128708	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"""	4821	protein-coding gene	gene with protein product		603053				9427644	Standard	NM_003642		Approved	KAT1	uc002uhi.3	O14929	OTTHUMG00000132282	ENST00000264108.4:c.456_458delAGG	2.37:g.172822008_172822010delAGG	ENSP00000264108:p.Gly154del					HAT1_ENST00000392584.1_In_Frame_Del_p.TG67del|SLC25A12_ENST00000472748.1_Intron	p.TG152del	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		5	492_494	+			152					Q49A44|Q53QF0|Q53SU4|Q6P594|Q8WWB9	In_Frame_Del	DEL	ENST00000264108.4	37	c.456_458delAGG	CCDS2245.1																																																																																				0.335	HAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255377.1	NM_003642		8	22						8	22	---	---	---	---
AC128709.3	0	broad.mit.edu	37	3	197186847	197186847	+	lincRNA	DEL	G	G	-	rs372574304		TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr3:197186847delG	ENST00000438408.1	-	0	0				AC128709.2_ENST00000420213.1_lincRNA																							GCGGTCGGGAGGGGATGCAGT	0.607																																						ENST00000420213.1																			0																																																			0							g.chr3:197186847delG																													3.37:g.197186847delG														0	138	+									RNA	DEL	ENST00000438408.1	37																																																																																						0.607	AC128709.3-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000340291.1			2	4						2	4	---	---	---	---
TET2	54790	broad.mit.edu	37	4	106157271	106157271	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr4:106157271delT	ENST00000540549.1	+	3	3032	c.2172delT	c.(2170-2172)catfs	p.H724fs	TET2_ENST00000394764.1_Frame_Shift_Del_p.H724fs|TET2_ENST00000305737.2_Frame_Shift_Del_p.H724fs|TET2_ENST00000545826.1_Frame_Shift_Del_p.H724fs|TET2_ENST00000513237.1_Frame_Shift_Del_p.H745fs|TET2_ENST00000413648.2_Frame_Shift_Del_p.H724fs|TET2_ENST00000380013.4_Frame_Shift_Del_p.H724fs			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	724	Gln-rich.				5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.H724fs*29(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ATAAGCCTCATAAACAGGCAG	0.408			"""Mis N, F"""		MDS																																	ENST00000513237.1				Rec	yes		4	4q24	54790	"""Mis N, F"""	tet oncogene family member 2			L			MDS		1	Deletion - Frameshift(1)	p.H724fs*29(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314						c.(2233-2235)cafs		tet methylcytosine dioxygenase 2							75.0	78.0	77.0					4																	106157271		2203	4300	6503	SO:0001589	frameshift_variant	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106157271delT	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.2172delT	4.37:g.106157271delT	ENSP00000442788:p.His724fs					TET2_ENST00000380013.4_Frame_Shift_Del_p.H724fs|TET2_ENST00000305737.2_Frame_Shift_Del_p.H724fs|TET2_ENST00000413648.2_Frame_Shift_Del_p.H724fs|TET2_ENST00000545826.1_Frame_Shift_Del_p.H724fs|TET2_ENST00000394764.1_Frame_Shift_Del_p.H724fs|TET2_ENST00000540549.1_Frame_Shift_Del_p.H724fs	p.H745fs			Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	3032	+		Myeloproliferative disorder(5;0.0393)	724			Gln-rich.		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Frame_Shift_Del	DEL	ENST00000540549.1	37	c.2235delT	CCDS47120.1																																																																																				0.408	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		20	22						20	22	---	---	---	---
CTD-2587M23.1	0	broad.mit.edu	37	5	1726293	1726293	+	lincRNA	DEL	G	G	-	rs60032713	byFrequency	TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr5:1726293delG	ENST00000565428.1	+	0	1030																											GCCCTCCTCCGCCGTTCCGCC	0.612													?|G|-|unsure	2844	0.567891	0.792	0.4179	5008	,	,		18168	0.3671		0.6581	False		,,,				2504	0.4857					ENST00000565428.1																			0																																																			0							g.chr5:1726293delG																													5.37:g.1726293delG														0	1030	+									RNA	DEL	ENST00000565428.1	37																																																																																						0.612	CTD-2587M23.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000423201.1			7	0						7	0	---	---	---	---
GUSBP1	728411	broad.mit.edu	37	5	21481564	21481564	+	RNA	DEL	G	G	-			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr5:21481564delG	ENST00000607545.1	+	0	179					NR_027026.1		Q15486	GUSP1_HUMAN	glucuronidase, beta pseudogene 1						carbohydrate metabolic process (GO:0005975)|nervous system development (GO:0007399)|skeletal system development (GO:0001501)		hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)										GCAGGTGTGAGGGGGGCAGGA	0.527																																						ENST00000607545.1																			0																																																			0							g.chr5:21481564delG	BC064850, X75940		5p14.3	2012-10-04			ENSG00000183666	ENSG00000183666			13670	pseudogene	pseudogene						8565635	Standard	NR_027026		Approved		uc010iub.3	Q15486	OTTHUMG00000162474		5.37:g.21481564delG								NR_027026.1						0	179	+								A6NLY8|A8K1B7|Q969T8|Q9BUH2	RNA	DEL	ENST00000607545.1	37																																																																																						0.527	GUSBP1-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470546.1	NG_008324		2	4						2	4	---	---	---	---
HOXA1	3198	broad.mit.edu	37	7	27135314	27135316	+	In_Frame_Del	DEL	CGA	CGA	-	rs368428758|rs10951154|rs544314279	byFrequency	TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr7:27135314_27135316delCGA	ENST00000343060.4	-	1	277_279	c.216_218delTCG	c.(214-219)catcgc>cac	p.R73del	HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000495032.1_RNA|HOTAIRM1_ENST00000425358.2_RNA|HOXA1_ENST00000355633.5_In_Frame_Del_p.R73del	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	73	Poly-His.		H -> R (frequent polymorphism in individuals of European or African origin; dbSNP:rs10951154). {ECO:0000269|PubMed:11091361, ECO:0000269|PubMed:14702039}.		abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						Ctgggggtggcgatggtggtggt	0.65											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		37	0.00738818	0.0	0.0144	5008	,	,		11776	0.001		0.0209	False		,,,				2504	0.0051					ENST00000343060.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(214-219)cac>ca		homeobox A1																																				SO:0001651	inframe_deletion	3198					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27135314_27135316delCGA		CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"""Homeoboxes / ANTP class : HOXL subclass"""	5099	protein-coding gene	gene with protein product		142955	"""homeo box A1"""	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.216_218delTCG	7.37:g.27135314_27135316delCGA	ENSP00000343246:p.Arg73del		OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	792	HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000355633.5_In_Frame_Del_p.HR72del	p.HR72del	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN			1	277_279	-			72			Poly-His.		A4D184|B2R8U7|O43363	In_Frame_Del	DEL	ENST00000343060.4	37	c.216_218delTCG	CCDS5401.1																																																																																				0.650	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			7	167						7	167	---	---	---	---
HOXA11-AS	221883	broad.mit.edu	37	7	27228108	27228108	+	RNA	DEL	T	T	-			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr7:27228108delT	ENST00000522863.1	+	0	1156				RP1-170O19.14_ENST00000523331.1_lincRNA|HOXA11-AS_ENST00000522674.1_RNA|HOXA11-AS_ENST00000479766.1_RNA|HOXA11-AS_ENST00000520360.1_RNA|HOXA11-AS_ENST00000520395.1_RNA					HOXA11 antisense RNA																		GGGCGAGGGGTGGGCGCAGCT	0.567																																						ENST00000522863.1																			0																																																			0							g.chr7:27228108delT			7p15.2	2012-10-19	2012-08-15	2012-03-14	ENSG00000240990	ENSG00000240990		"""Long non-coding RNAs"", ""-"""	24957	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 76"", ""HOXA cluster antisense RNA 5 (non-protein coding)"", ""HOXA11 antisense RNA 1 (non-protein coding)"""	607530	"""homeobox A11 antisense"", ""HOXA11 antisense RNA (non-protein coding)"""	HOXA11AS		9745033, 12050232	Standard	NR_002795		Approved	HOXA11-AS1, HOXA11S, HOXA-AS5, NCRNA00076			OTTHUMG00000158205		7.37:g.27228108delT						HOXA11-AS_ENST00000522674.1_RNA|HOXA11-AS_ENST00000479766.1_RNA|HOXA11-AS_ENST00000520360.1_RNA|RP1-170O19.14_ENST00000523331.1_lincRNA								0	1156	+									RNA	DEL	ENST00000522863.1	37																																																																																						0.567	HOXA11-AS-006	KNOWN	not_organism_supported|not_organism_supported|basic|exp_conf	antisense	antisense	OTTHUMT00000317662.1	NR_002795		2	4						2	4	---	---	---	---
FOXD4	2298	broad.mit.edu	37	9	117406	117407	+	Frame_Shift_Ins	INS	-	-	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr9:117406_117407insG	ENST00000382500.2	-	1	1010_1011	c.713_714insC	c.(712-714)ccgfs	p.P238fs		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	238	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTGGCTGCGGCGGGGCAGGGGC	0.743																																						ENST00000382500.2																			0				endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14						c.(712-714)cccfs		forkhead box D4																																				SO:0001589	frameshift_variant	2298				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:117406_117407insG	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"""Forkhead boxes"""	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.714dupC	9.37:g.117410_117410dupG	ENSP00000371940:p.Pro238fs						p.P238fs	NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	1010_1011	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	238			Pro-rich.		B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Frame_Shift_Ins	INS	ENST00000382500.2	37	c.713_714insC	CCDS34975.1																																																																																				0.743	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		7	125						7	125	---	---	---	---
LINC01410	103352539	broad.mit.edu	37	9	66460027	66460027	+	lincRNA	DEL	T	T	-	rs112286776		TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr9:66460027delT	ENST00000424345.1	+	0	224				RNA5SP283_ENST00000365604.1_RNA																							ttgggaaggcttttcacatat	0.343																																						ENST00000424345.1																			0																																																			0							g.chr9:66460027delT																													9.37:g.66460027delT														0	224	+									RNA	DEL	ENST00000424345.1	37																																																																																						0.343	RP11-262H14.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000128851.1			2	4						2	4	---	---	---	---
RP11-764K9.1	0	broad.mit.edu	37	9	68406251	68406251	+	lincRNA	DEL	A	A	-			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr9:68406251delA	ENST00000417843.2	-	0	224				RNA5SP284_ENST00000384547.1_RNA																							atcaatggggaaaagattccc	0.378																																						ENST00000417843.2																			0																																																			0							g.chr9:68406251delA																													9.37:g.68406251delA														0	224	-									RNA	DEL	ENST00000417843.2	37																																																																																						0.378	RP11-764K9.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000129817.2			3	5						3	5	---	---	---	---
SEC23IP	11196	broad.mit.edu	37	10	121668600	121668601	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr10:121668600_121668601delAG	ENST00000369075.3	+	5	1221_1222	c.1149_1150delAG	c.(1147-1152)ttagagfs	p.E384fs	SEC23IP_ENST00000543134.1_Frame_Shift_Del_p.E173fs	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	384					acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		ACCGAAGATTAGAGTTTCCAAG	0.327																																						ENST00000369075.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36						c.(1147-1152)ttagfs		SEC23 interacting protein																																				SO:0001589	frameshift_variant	11196				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	g.chr10:121668600_121668601delAG	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.1149_1150delAG	10.37:g.121668602_121668603delAG	ENSP00000358071:p.Glu384fs					SEC23IP_ENST00000543134.1_Frame_Shift_Del_p.LE172fs	p.LE383fs	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	5	1221_1222	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	383					D3DRD2|Q8IXH5|Q9BUK5	Frame_Shift_Del	DEL	ENST00000369075.3	37	c.1149_1150delAG	CCDS7618.1																																																																																				0.327	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			11	49						11	49	---	---	---	---
RP11-1028N23.4	0	broad.mit.edu	37	12	116058638	116058638	+	lincRNA	DEL	G	G	-			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr12:116058638delG	ENST00000551940.1	-	0	90																											AGGCCAGGCTGGGGCTCATGG	0.537																																						ENST00000551940.1																			0																																																			0							g.chr12:116058638delG																													12.37:g.116058638delG														0	90	-									RNA	DEL	ENST00000551940.1	37																																																																																						0.537	RP11-1028N23.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000403876.1			2	4						2	4	---	---	---	---
LINC00511	400619	broad.mit.edu	37	17	70623821	70623821	+	lincRNA	DEL	A	A	-	rs201261004		TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr17:70623821delA	ENST00000581549.1	-	0	206					NR_033876.1				long intergenic non-protein coding RNA 511																		aaactgcctgaaaaaaaaaga	0.423																																						ENST00000581549.1																			0																																																			0							g.chr17:70623821delA	AK129994		17q24.3	2012-10-12			ENSG00000227036	ENSG00000227036		"""Long non-coding RNAs"""	43564	non-coding RNA	RNA, long non-coding							Standard	NR_033876		Approved		uc021ucl.1		OTTHUMG00000132227		17.37:g.70623821delA								NR_033876.1						0	206	-									RNA	DEL	ENST00000581549.1	37																																																																																						0.423	LINC00511-018	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000441438.1			2	4						2	4	---	---	---	---
LINC00669	647946	broad.mit.edu	37	18	36841508	36841509	+	lincRNA	DEL	AC	AC	-			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr18:36841508_36841509delAC	ENST00000591629.1	-	0	440					NR_024391.1				long intergenic non-protein coding RNA 669																		atattgaagtacacagaccagt	0.376																																						ENST00000591629.1																			0																																																			0							g.chr18:36841508_36841509delAC	AK090603, BG220862, DB038664		18q12.2-q12.3	2012-10-12				ENSG00000267374		"""Long non-coding RNAs"""	44332	non-coding RNA	RNA, long non-coding							Standard	NR_024391		Approved		uc002lak.1				18.37:g.36841510_36841511delAC								NR_024391.1						0	440	-									RNA	DEL	ENST00000591629.1	37																																																																																						0.376	LINC00669-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000441462.1	NR_024391		2	4						2	4	---	---	---	---
KIZ-AS1	101929591	broad.mit.edu	37	20	21142454	21142455	+	RNA	INS	-	-	C	rs556051843|rs45603533|rs11482592|rs73133315	byFrequency	TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr20:21142454_21142455insC	ENST00000591761.1	-	0	5142				PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA																							AAAAAAAAAAACCCCACCTAAT	0.376													|||unknown(HR)	2735	0.546126	0.2625	0.5648	5008	,	,		17164	0.5595		0.6471	False		,,,				2504	0.7986					ENST00000591761.1																			0																																																			0							g.chr20:21142454_21142455insC																													20.37:g.21142458_21142458dupC						PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA								0	5142	-									RNA	INS	ENST00000591761.1	37																																																																																						0.376	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			7	13						7	13	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11046071	11046078	+	RNA	DEL	AAAAAAAC	AAAAAAAC	-	rs74591371|rs57120995|rs59471365|rs147748750|rs148107440|rs78642396|rs76790868|rs199768595	byFrequency	TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr21:11046071_11046078delAAAAAAAC	ENST00000470054.1	-	0	774							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCACAACTTAAAAAAAACAAAGTTATTC	0.264														1943	0.387979	0.4251	0.3573	5008	,	,		94189	0.3651		0.4026	False		,,,				2504	0.3681					ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11046071_11046078delAAAAAAAC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11046071_11046078delAAAAAAAC												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	774	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.264	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		2	4						2	4	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11065194	11065197	+	RNA	DEL	AGAG	AGAG	-			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr21:11065194_11065197delAGAG	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gaccttaaacagagagcacagttg	0.426																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11065194_11065197delAGAG	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11065194_11065197delAGAG												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.426	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	8						4	8	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11072706	11072706	+	RNA	DEL	A	A	-	rs147375814|rs76824558		TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr21:11072706delA	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		tgaactgattaaaaaaaaaaa	0.393																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11072706delA	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11072706delA												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.393	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	6						4	6	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11072716	11072717	+	RNA	INS	-	-	C	rs80212457|rs56970140|rs142466476|rs71277019|rs9325265	byFrequency	TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr21:11072716_11072717insC	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		aaaaaaaaaaaaaaacagtggc	0.421																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11072716_11072717insC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11072716_11072717insC												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.421	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		6	6						6	6	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11080670	11080673	+	RNA	DEL	AGAG	AGAG	-	rs67663872|rs58429118		TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr21:11080670_11080673delAGAG	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTAAAGACACAGAGAGAGAGACTT	0.485																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11080670_11080673delAGAG	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11080674_11080677delAGAG												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.485	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		5	4						5	4	---	---	---	---
AP003900.6	0	broad.mit.edu	37	21	11175282	11175283	+	lincRNA	INS	-	-	G	rs199624090|rs56073885|rs71231608		TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr21:11175282_11175283insG	ENST00000603265.1	+	0	231																											GATCATCTGTAGTGTACGGTGG	0.391																																						ENST00000603265.1																			0																																																			0							g.chr21:11175282_11175283insG																													21.37:g.11175283_11175283dupG														0	231	+									RNA	INS	ENST00000603265.1	37																																																																																						0.391	AP003900.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469752.1			6	0						6	0	---	---	---	---
