#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
MIS18A	54069	broad.mit.edu	37	21	33651206	33651206	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr21:33651206G>C	ENST00000290130.3	-	1	174	c.120C>G	c.(118-120)agC>agG	p.S40R	MIS18A-AS1_ENST00000453549.1_RNA	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN	MIS18 kinetochore protein A	40					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of DNA methylation (GO:0044030)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						GCTGGTGGCGGCTCGAGTCTT	0.642																																						ENST00000290130.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						c.(118-120)agC>agG		MIS18 kinetochore protein A							25.0	25.0	25.0					21																	33651206		2203	4299	6502	SO:0001583	missense	54069				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm		g.chr21:33651206G>C	AF231921	CCDS13611.1	21q22.11	2013-10-21	2013-10-21	2011-02-23	ENSG00000159055	ENSG00000159055			1286	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 46"", ""chromosome 21 open reading frame 45"", ""MIS18 kinetochore protein homolog A (S. pombe)"""	C21orf46, C21orf45		17199038	Standard	NM_018944		Approved	B28, FASP1, hMis18alpha	uc002ypi.3	Q9NYP9	OTTHUMG00000085308	ENST00000290130.3:c.120C>G	21.37:g.33651206G>C	ENSP00000290130:p.Ser40Arg					MIS18A-AS1_ENST00000453549.1_RNA	p.S40R	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN			1	174	-			40					B2R562|Q542Z0	Missense_Mutation	SNP	ENST00000290130.3	37	c.120C>G	CCDS13611.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.931530	0.73442	.	.	ENSG00000159055	ENST00000290130	.	.	.	4.81	2.8	0.32819	.	0.900608	0.09620	N	0.777726	T	0.43919	0.1269	L	0.57536	1.79	0.24976	N	0.991635	B	0.11235	0.004	B	0.09377	0.004	T	0.42582	-0.9443	9	0.87932	D	0	-0.3083	7.8731	0.29578	0.0:0.3314:0.4977:0.1708	.	40	Q9NYP9	MS18A_HUMAN	R	40	.	ENSP00000290130:S40R	S	-	3	2	MIS18A	32573077	0.202000	0.23423	0.963000	0.40424	0.967000	0.64934	0.503000	0.22610	1.342000	0.45619	0.650000	0.86243	AGC		0.642	MIS18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193090.1	NM_018944		10	15	0	0	0	1	0	10	15				
RFX7	64864	broad.mit.edu	37	15	56390461	56390461	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr15:56390461G>A	ENST00000559447.2	-	8	905	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W	RFX7_ENST00000422057.1_Missense_Mutation_p.R212W|RFX7_ENST00000317318.6_Missense_Mutation_p.R309W|RFX7_ENST00000423270.1_Missense_Mutation_p.R309W			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	212					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGGATTTTCCGTTGCAACTGC	0.438																																						ENST00000423270.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(925-927)Cgg>Tgg		regulatory factor X, 7							104.0	98.0	100.0					15																	56390461		1865	4116	5981	SO:0001583	missense	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56390461G>A			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.634C>T	15.37:g.56390461G>A	ENSP00000453281:p.Arg212Trp					RFX7_ENST00000559447.2_Missense_Mutation_p.R212W|RFX7_ENST00000317318.6_Missense_Mutation_p.R309W|RFX7_ENST00000422057.1_Missense_Mutation_p.R212W	p.R309W	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN			8	924	-			212					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	37	c.925C>T		.	.	.	.	.	.	.	.	.	.	G	19.23	3.786703	0.70337	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.60672	0.2;0.17;0.18	5.54	3.61	0.41365	.	0.000000	0.64402	D	0.000004	T	0.62527	0.2435	N	0.24115	0.695	0.53688	D	0.999973	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.65829	-0.6073	10	0.87932	D	0	-14.9807	13.0385	0.58885	0.0:0.0:0.5759:0.4241	.	212;212	Q2KHR2;C9JU50	RFX7_HUMAN;.	W	212;309;309	ENSP00000387504:R212W;ENSP00000313299:R309W;ENSP00000397644:R309W	ENSP00000313299:R309W	R	-	1	2	RFX7	54177753	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.774000	0.47694	0.765000	0.33221	0.655000	0.94253	CGG		0.438	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		9	26	0	0	0	1	0	9	26				
GYPB	2994	broad.mit.edu	37	4	144918703	144918703	+	Missense_Mutation	SNP	C	C	T	rs112711627	byFrequency	TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr4:144918703C>T	ENST00000502664.1	-	4	311	c.260G>A	c.(259-261)cGa>cAa	p.R87Q	RP11-673E1.4_ENST00000506982.1_RNA|GYPB_ENST00000429670.2_Missense_Mutation_p.D62N|GYPB_ENST00000283126.7_Missense_Mutation_p.R87Q|GYPB_ENST00000513128.1_Missense_Mutation_p.R54Q|GYPB_ENST00000510196.2_5'UTR	NM_002100.4	NP_002091	P06028	GLPB_HUMAN	glycophorin B (MNS blood group)	87						integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					CTTTATCAGTCGGCGAATACT	0.373													c|||	13	0.00259585	0.0091	0.0	5008	,	,		16174	0.001		0.0	False		,,,				2504	0.0					ENST00000283126.7																			0				breast(1)|large_intestine(2)|skin(1)	4						c.(259-261)cGa>cAa		glycophorin B (MNS blood group)		C	GLN/ARG	50,4334	49.6+/-84.7	4,42,2146	75.0	81.0	79.0		260	-4.7	0.0	4	dbSNP_132	79	1,8599	1.2+/-3.3	0,1,4299	no	missense	GYPB	NM_002100.4	43	4,43,6445	TT,TC,CC		0.0116,1.1405,0.3928		87/92	144918703	51,12933	2192	4300	6492	SO:0001583	missense	2994							g.chr4:144918703C>T		CCDS54809.1	4q31.21	2014-09-17	2006-02-23			ENSG00000250361		"""CD molecules"", ""Blood group antigens"""	4703	protein-coding gene	gene with protein product		111740	"""glycophorin B (includes Ss blood group)"", ""glycophorin B (Ss blood group)"""	MNS			Standard	NM_002100		Approved	GPB, SS, CD235b		P06028		ENST00000502664.1:c.260G>A	4.37:g.144918703C>T	ENSP00000427690:p.Arg87Gln					GYPB_ENST00000429670.2_Missense_Mutation_p.D62N|GYPB_ENST00000510196.2_5'UTR|GYPB_ENST00000502664.1_Missense_Mutation_p.R87Q|GYPB_ENST00000513128.1_Missense_Mutation_p.R54Q|RP11-673E1.4_ENST00000506982.1_RNA	p.R87Q							4	315	-	all_hematologic(180;0.158)							B8Q174|E2QBW7|Q0VAF4|Q58HE9|Q58HF0|Q58HF1|Q9UCH7	Missense_Mutation	SNP	ENST00000502664.1	37	c.260G>A	CCDS54809.1	5|5	0.0022893772893772895|0.0022893772893772895	4|4	0.008130081300813009|0.008130081300813009	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	c|c	10.75|10.75	1.439390|1.439390	0.25900|0.25900	0.011405|0.011405	1.16E-4|1.16E-4	ENSG00000250361|ENSG00000250361	ENST00000429670|ENST00000283126;ENST00000502664;ENST00000513128	T|T;T;T	0.06218|0.35605	3.33|1.3;1.3;1.3	2.35|2.35	-4.69|-4.69	0.03299|0.03299	.|.	.|0.745410	.|0.10840	.|N	.|0.628334	T|T	0.11580|0.11580	0.0282|0.0282	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|P;B	.|0.37864	.|0.61;0.403	.|B;B	.|0.20384	.|0.029;0.017	T|T	0.02053|0.02053	-1.1222|-1.1222	6|9	0.59425|0.66056	D|D	0.04|0.02	.|.	3.3011|3.3011	0.06983|0.06983	0.4876:0.2609:0.0:0.2515|0.4876:0.2609:0.0:0.2515	.|.	.|119;87	.|Q16336;E2QBW7	.|.;.	N|Q	62|87;87;54	ENSP00000394200:D62N|ENSP00000283126:R87Q;ENSP00000427690:R87Q;ENSP00000425244:R54Q	ENSP00000394200:D62N|ENSP00000283126:R87Q	D|R	-|-	1|2	0|0	GYPB|GYPB	145138153|145138153	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.095000|0.095000	0.18619|0.18619	-1.364000|-1.364000	0.02590|0.02590	-2.286000|-2.286000	0.00670|0.00670	0.184000|0.184000	0.17185|0.17185	GAC|CGA		0.373	GYPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364791.1	NM_002100		7	38	0	0	0	1	0	7	38				
NBPF10	100132406	broad.mit.edu	37	1	145293269	145293269	+	Splice_Site	SNP	G	G	A	rs61350760		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:145293269G>A	ENST00000468030.1	+	5	1125		c.e5+1		NBPF10_ENST00000342960.5_5'Flank|NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Splice_Site																							TTTCACAACAGTAAGTTAAGA	0.423																																						ENST00000369338.1																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.e1+1		neuroblastoma breakpoint family, member 10																																				SO:0001630	splice_region_variant	100132406							g.chr1:145293269G>A																												ENST00000468030.1:c.714+1G>A	1.37:g.145293269G>A						RP11-458D21.5_ENST00000468030.1_Splice_Site|NBPF10_ENST00000369339.2_Intron				A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	1	155	+	all_hematologic(923;0.032)								Splice_Site	SNP	ENST00000468030.1	37																																																																																						0.423	RP11-458D21.5-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000038553.9		Intron	5	89	0	0	0	1	0	5	89				
ACTA1	58	broad.mit.edu	37	1	229568848	229568848	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:229568848G>T	ENST00000366684.3	-	2	117	c.15C>A	c.(13-15)gaC>gaA	p.D5E	ACTA1_ENST00000366683.2_Missense_Mutation_p.D5E	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	5					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)	p.D5D(1)		endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				CGGTGGTCTCGTCTTCGTCGC	0.657																																						ENST00000366684.3																			1	Substitution - coding silent(1)	p.D5D(1)	endometrium(1)	endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28						c.(13-15)gaC>gaA		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)						64.0	66.0	65.0					1																	229568848		2203	4300	6503	SO:0001583	missense	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229568848G>T	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.15C>A	1.37:g.229568848G>T	ENSP00000355645:p.Asp5Glu					ACTA1_ENST00000366683.2_Missense_Mutation_p.D5E	p.D5E	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN			2	117	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	5					P02568|P99020|Q5T8M9	Missense_Mutation	SNP	ENST00000366684.3	37	c.15C>A	CCDS1578.1	.	.	.	.	.	.	.	.	.	.	G	9.163	1.019279	0.19355	.	.	ENSG00000143632	ENST00000366684;ENST00000308794;ENST00000366683;ENST00000366682;ENST00000342787	D;D	0.97279	-4.32;-3.48	4.77	1.62	0.23740	.	0.345104	0.29286	N	0.012589	D	0.86628	0.5978	N	0.04018	-0.295	0.22873	N	0.998628	B	0.02656	0.0	B	0.04013	0.001	T	0.76476	-0.2945	10	0.05721	T	0.95	.	4.0372	0.09735	0.2515:0.3782:0.3702:0.0	.	5	P68133	ACTS_HUMAN	E	5	ENSP00000355645:D5E;ENSP00000355644:D5E	ENSP00000312351:D5E	D	-	3	2	ACTA1	227635471	0.142000	0.22610	1.000000	0.80357	0.904000	0.53231	-0.530000	0.06179	0.611000	0.30052	-0.175000	0.13238	GAC		0.657	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		38	93	1	0	3.77016e-25	1	4.24143e-25	38	93				
ADCY2	108	broad.mit.edu	37	5	7698397	7698397	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr5:7698397G>A	ENST00000338316.4	+	7	1108	c.1019G>A	c.(1018-1020)tGc>tAc	p.C340Y	ADCY2_ENST00000537121.1_Missense_Mutation_p.C160Y	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	340					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TTAGGAGACTGCTACTACTGT	0.393																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(1018-1020)tGc>tAc		adenylate cyclase 2 (brain)							158.0	163.0	161.0					5																	7698397		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7698397G>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1019G>A	5.37:g.7698397G>A	ENSP00000342952:p.Cys340Tyr					ADCY2_ENST00000537121.1_Missense_Mutation_p.C160Y	p.C340Y	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			7	1108	+			340					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.1019G>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	27.0	4.791981	0.90453	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	D;D	0.84800	-1.9;-1.9	5.8	5.8	0.92144	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.95376	0.8499	H	0.96269	3.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.96191	0.9138	10	0.87932	D	0	.	20.0545	0.97645	0.0:0.0:1.0:0.0	.	160;340	B7Z2C1;Q08462	.;ADCY2_HUMAN	Y	340;191;160	ENSP00000342952:C340Y;ENSP00000444803:C160Y	ENSP00000342952:C340Y	C	+	2	0	ADCY2	7751397	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.470000	0.97683	2.748000	0.94277	0.655000	0.94253	TGC		0.393	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		28	94	0	0	0	1	0	28	94				
MYH7	4625	broad.mit.edu	37	14	23887454	23887454	+	Silent	SNP	G	G	A			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr14:23887454G>A	ENST00000355349.3	-	30	4296	c.4134C>T	c.(4132-4134)gaC>gaT	p.D1378D	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1378					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCTGAATGGCGTCCGTCTCAT	0.632																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(4132-4134)gaC>gaT		myosin, heavy chain 7, cardiac muscle, beta							91.0	88.0	89.0					14																	23887454		2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23887454G>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4134C>T	14.37:g.23887454G>A							p.D1378D	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	30	4296	-	all_cancers(95;2.54e-05)		1378					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.4134C>T	CCDS9601.1																																																																																				0.632	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		7	114	0	0	0	1	0	7	114				
ATP1A4	480	broad.mit.edu	37	1	160134025	160134025	+	Silent	SNP	G	G	A	rs369914363		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:160134025G>A	ENST00000368081.4	+	7	1329	c.858G>A	c.(856-858)gcG>gcA	p.A286A		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	286					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGGCCTGGCGGTTGGCCAGA	0.557																																						ENST00000368081.4																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75						c.(856-858)gcG>gcA		ATPase, Na+/K+ transporting, alpha 4 polypeptide		G		0,4406		0,0,2203	207.0	169.0	182.0		858	-9.1	0.0	1		182	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ATP1A4	NM_144699.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		286/1030	160134025	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160134025G>A	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.858G>A	1.37:g.160134025G>A							p.A286A	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		7	1329	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		286					Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Silent	SNP	ENST00000368081.4	37	c.858G>A	CCDS1197.1																																																																																				0.557	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		27	105	0	0	0	1	0	27	105				
LOC81691	81691	broad.mit.edu	37	16	20855295	20855295	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr16:20855295C>T	ENST00000261377.6	+	16	1875	c.1666C>T	c.(1666-1668)Cag>Tag	p.Q556*	ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000348433.6_Intron|AC004381.6_ENST00000564274.1_Nonsense_Mutation_p.Q556*	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					AGAAGCTGCCCAGCTGGCCAT	0.483																																						ENST00000261377.6																			0											c.(1666-1668)Cag>Tag									115.0	110.0	112.0					16																	20855295		2201	4300	6501	SO:0001587	stop_gained	0							g.chr16:20855295C>T																												ENST00000261377.6:c.1666C>T	16.37:g.20855295C>T	ENSP00000261377:p.Gln556*					AC004381.6_ENST00000564274.1_Nonsense_Mutation_p.Q556*|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000348433.6_Intron	p.Q556*	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2					16	1875	+									Nonsense_Mutation	SNP	ENST00000261377.6	37	c.1666C>T	CCDS10591.1	.	.	.	.	.	.	.	.	.	.	C	37	6.361128	0.97507	.	.	ENSG00000005189	ENST00000261377	.	.	.	5.39	4.42	0.53409	.	0.181902	0.39146	N	0.001452	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-14.9165	14.2069	0.65739	0.1509:0.8491:0.0:0.0	.	.	.	.	X	556	.	ENSP00000261377:Q556X	Q	+	1	0	AC004381.6	20762796	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.498000	0.60373	1.222000	0.43521	0.561000	0.74099	CAG		0.483	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2			22	70	0	0	0	1	0	22	70				
PRB2	653247	broad.mit.edu	37	12	11546491	11546491	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr12:11546491C>T	ENST00000389362.4	-	3	556	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	174	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)		p.R153L(1)|p.R174L(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGAGGAGATCGAGAACTTCG	0.607																																						ENST00000389362.4																			2	Substitution - Missense(2)	p.R153L(1)|p.R174L(1)	endometrium(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(520-522)cGa>cAa		proline-rich protein BstNI subfamily 2							264.0	247.0	253.0					12																	11546491		2199	4297	6496	SO:0001583	missense	653247							g.chr12:11546491C>T	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.521G>A	12.37:g.11546491C>T	ENSP00000374013:p.Arg174Gln					PRB1_ENST00000546254.1_Intron	p.R174Q	NM_006248.3	NP_006239.3			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	556	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	c.521G>A	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	3.172	-0.169782	0.06461	.	.	ENSG00000121335	ENST00000389362	T	0.04502	3.61	1.49	-2.98	0.05513	.	0.218810	0.19223	N	0.119628	T	0.01592	0.0051	N	0.08118	0	0.09310	N	1	B	0.21452	0.056	B	0.06405	0.002	T	0.41680	-0.9495	10	0.12430	T	0.62	.	1.7752	0.03020	0.1638:0.1727:0.4605:0.203	.	174	P02812	PRB2_HUMAN	Q	174	ENSP00000374013:R174Q	ENSP00000374013:R174Q	R	-	2	0	PRB2	11437758	0.000000	0.05858	0.000000	0.03702	0.186000	0.23388	-1.297000	0.02759	-1.737000	0.01350	0.109000	0.15622	CGA		0.607	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		5	414	0	0	0	1	0	5	414				
ASB8	140461	broad.mit.edu	37	12	48543215	48543215	+	Silent	SNP	G	G	A			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr12:48543215G>A	ENST00000317697.3	-	4	970	c.801C>T	c.(799-801)ctC>ctT	p.L267L	ASB8_ENST00000536549.1_Silent_p.L267L|ASB8_ENST00000537754.1_5'UTR	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	267	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						CTGCATCGGGGAGATACTGGA	0.522																																						ENST00000317697.3																			0				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						c.(799-801)ctC>ctT		ankyrin repeat and SOCS box containing 8							61.0	60.0	60.0					12																	48543215		2203	4300	6503	SO:0001819	synonymous_variant	0				intracellular signal transduction	cytoplasm|nucleus		g.chr12:48543215G>A	AK024908	CCDS8761.1	12q13.12	2013-01-10	2011-01-25			ENSG00000177981		"""Ankyrin repeat domain containing"""	17183	protein-coding gene	gene with protein product		615053	"""ankyrin repeat and SOCS box-containing 8"""			12076535	Standard	NM_024095		Approved	MGC5540, FLJ21255	uc001rrh.3	Q9H765		ENST00000317697.3:c.801C>T	12.37:g.48543215G>A						ASB8_ENST00000536549.1_Silent_p.L267L|ASB8_ENST00000537754.1_5'UTR	p.L267L	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN			4	970	-			267			SOCS box.		A8K1P2|Q547Q2	Silent	SNP	ENST00000317697.3	37	c.801C>T	CCDS8761.1																																																																																				0.522	ASB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396497.1			14	33	0	0	0	1	0	14	33				
AEBP1	165	broad.mit.edu	37	7	44153447	44153447	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr7:44153447C>T	ENST00000223357.3	+	21	3369	c.3064C>T	c.(3064-3066)Cgc>Tgc	p.R1022C	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_Missense_Mutation_p.R597C	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1022	Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GCAGCAGCGACGCCTACAACA	0.682																																						ENST00000223357.3																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(3064-3066)Cgc>Tgc		AE binding protein 1							69.0	75.0	73.0					7																	44153447		2203	4300	6503	SO:0001583	missense	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44153447C>T	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3064C>T	7.37:g.44153447C>T	ENSP00000223357:p.Arg1022Cys					AEBP1_ENST00000450684.2_Missense_Mutation_p.R597C	p.R1022C	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN			21	3369	+			1022			Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	c.3064C>T	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217235	0.79352	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	D;D	0.96104	-3.91;-3.22	5.33	5.33	0.75918	.	0.064498	0.64402	D	0.000008	D	0.95683	0.8596	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.981	D	0.96176	0.9127	10	0.87932	D	0	-31.4965	14.3975	0.67020	0.1484:0.8516:0.0:0.0	.	597;1022	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	C	1022;597	ENSP00000223357:R1022C;ENSP00000398878:R597C	ENSP00000223357:R1022C	R	+	1	0	AEBP1	44119972	0.999000	0.42202	0.918000	0.36340	0.821000	0.46438	2.402000	0.44521	2.499000	0.84300	0.557000	0.71058	CGC		0.682	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		19	62	0	0	0	1	0	19	62				
SERPINA3	12	broad.mit.edu	37	14	95085708	95085708	+	Missense_Mutation	SNP	G	G	A	rs144237088	byFrequency	TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr14:95085708G>A	ENST00000467132.1	+	3	1968	c.820G>A	c.(820-822)Gca>Aca	p.A274T	SERPINA3_ENST00000482740.1_Missense_Mutation_p.A56T|RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393080.4_Missense_Mutation_p.A274T|SERPINA3_ENST00000393078.3_Missense_Mutation_p.A274T			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	274					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CAATGCCAGCGCACTCTTCAT	0.557																																						ENST00000553947.1																			0				NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40						c.(895-897)Gca>Aca		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3		G	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	97.0	76.0	83.0		820	3.9	0.1	14	dbSNP_134	83	0,8596		0,0,4298	no	missense	SERPINA3	NM_001085.4	58	0,2,6499	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	274/424	95085708	2,13000	2203	4298	6501	SO:0001583	missense	12				acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	g.chr14:95085708G>A	K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"""Serine (or cysteine) peptidase inhibitors"""	16	protein-coding gene	gene with protein product		107280	"""alpha-1-antichymotrypsin"", ""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"""	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.820G>A	14.37:g.95085708G>A	ENSP00000450540:p.Ala274Thr					SERPINA3_ENST00000393080.4_Missense_Mutation_p.A274T|SERPINA3_ENST00000482740.1_Missense_Mutation_p.A56T|SERPINA3_ENST00000467132.1_Missense_Mutation_p.A274T|SERPINA3_ENST00000393078.3_Missense_Mutation_p.A274T|SERPINA3_ENST00000556388.1_Intron	p.A299T			P01011	AACT_HUMAN		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)	6	1783	+		all_cancers(154;0.0525)|all_epithelial(191;0.179)	274					B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	ENST00000467132.1	37	c.895G>A	CCDS32150.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949935	0.53186	4.54E-4	0.0	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000555820;ENST00000467132;ENST00000482740	D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87	4.75	3.86	0.44501	Serpin domain (3);	0.086334	0.48767	N	0.000180	D	0.88194	0.6371	L	0.58969	1.84	0.36381	D	0.861945	D;D	0.64830	0.994;0.981	P;P	0.58331	0.837;0.572	D	0.91023	0.4858	10	0.72032	D	0.01	.	11.9277	0.52829	0.0835:0.0:0.9165:0.0	.	274;299	P01011;G3V5I3	AACT_HUMAN;.	T	299;274;274;274;274;56	ENSP00000452367:A299T;ENSP00000376793:A274T;ENSP00000376795:A274T;ENSP00000450540:A274T;ENSP00000451119:A56T	ENSP00000376793:A274T	A	+	1	0	SERPINA3	94155461	0.776000	0.28616	0.139000	0.22197	0.071000	0.16799	2.322000	0.43814	1.223000	0.43536	0.556000	0.70494	GCA		0.557	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3	NM_001085		17	21	0	0	0	1	0	17	21				
HFE2	148738	broad.mit.edu	37	1	145414854	145414854	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:145414854C>A	ENST00000336751.5	+	2	311	c.73C>A	c.(73-75)Ctc>Atc	p.L25I	HFE2_ENST00000357836.5_Intron|HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	25					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|iron ion homeostasis (GO:0055072)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CACTCTCACTCTCCTGCTGCT	0.602																																						ENST00000336751.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14						c.(73-75)Ctc>Atc		hemochromatosis type 2 (juvenile)							106.0	89.0	95.0					1																	145414854		2203	4300	6503	SO:0001583	missense	148738				axon guidance	anchored to membrane		g.chr1:145414854C>A	AY372521	CCDS72877.1, CCDS72878.1, CCDS72879.1	1q21.2	2014-06-26			ENSG00000168509	ENSG00000168509			4887	protein-coding gene	gene with protein product	"""repulsive guidance molecule c"""	608374				10205270, 14647275	Standard	NM_213653		Approved	JH, HFE2A, RGMC, HJV, hemojuvelin, haemojuvelin	uc001eni.2	Q6ZVN8	OTTHUMG00000013748	ENST00000336751.5:c.73C>A	1.37:g.145414854C>A	ENSP00000337014:p.Leu25Ile					HFE2_ENST00000357836.5_Intron|HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron	p.L25I	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN			2	311	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		25					B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	Missense_Mutation	SNP	ENST00000336751.5	37	c.73C>A	CCDS910.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383039	0.61845	.	.	ENSG00000168509	ENST00000421822;ENST00000336751	D;D	0.94046	-2.4;-3.34	5.7	5.7	0.88788	Repulsive guidance molecule, N-terminal (1);	0.126422	0.34986	N	0.003537	D	0.93989	0.8075	L	0.59436	1.845	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.91438	0.5171	10	0.15066	T	0.55	-0.0471	15.3599	0.74464	0.0:1.0:0.0:0.0	.	25	Q6ZVN8	RGMC_HUMAN	I	25	ENSP00000411863:L25I;ENSP00000337014:L25I	ENSP00000337014:L25I	L	+	1	0	HFE2	144126211	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.263000	0.33004	2.703000	0.92315	0.580000	0.79431	CTC		0.602	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038527.1	NM_145277		4	74	1	0	1.23904e-05	1	1.31192e-05	4	74				
CCDC114	93233	broad.mit.edu	37	19	48801473	48801473	+	Silent	SNP	C	C	T			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr19:48801473C>T	ENST00000315396.7	-	11	1936	c.1254G>A	c.(1252-1254)ctG>ctA	p.L418L		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	418					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GGAGCTCCACCAGCCGCTTCT	0.647																																						ENST00000315396.7																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24						c.(1252-1254)ctG>ctA		coiled-coil domain containing 114							58.0	58.0	58.0					19																	48801473		2203	4300	6503	SO:0001819	synonymous_variant	93233							g.chr19:48801473C>T	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.1254G>A	19.37:g.48801473C>T							p.L418L	NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	11	1936	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	418					Q6ZRL4|Q96M06|Q9UFG8	Silent	SNP	ENST00000315396.7	37	c.1254G>A	CCDS12714.2																																																																																				0.647	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		9	29	0	0	0	1	0	9	29				
RP11-423O2.5	0	broad.mit.edu	37	1	142803552	142803552	+	lincRNA	SNP	T	T	A			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:142803552T>A	ENST00000423385.1	-	0	1413																											TCCTGATGAATCTGCAGTCAG	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803552T>A																													1.37:g.142803552T>A														0	1413	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			4	194	0	0	0	1	0	4	194				
XPO4	64328	broad.mit.edu	37	13	21401283	21401283	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr13:21401283G>A	ENST00000255305.6	-	7	834	c.763C>T	c.(763-765)Caa>Taa	p.Q255*	XPO4_ENST00000400602.2_Nonsense_Mutation_p.Q255*			Q9C0E2	XPO4_HUMAN	exportin 4	255					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AGCACATTTTGCGAGGATTCA	0.393																																						ENST00000400602.2																			0				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41						c.(763-765)Caa>Taa		exportin 4							95.0	91.0	92.0					13																	21401283		1843	4093	5936	SO:0001587	stop_gained	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21401283G>A	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.763C>T	13.37:g.21401283G>A	ENSP00000255305:p.Gln255*					XPO4_ENST00000255305.6_Nonsense_Mutation_p.Q255*	p.Q255*	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	7	798	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	255					Q5VUZ5|Q8N3V6|Q9H934	Nonsense_Mutation	SNP	ENST00000255305.6	37	c.763C>T	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	G	37	6.588527	0.97688	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	.	.	.	6.03	6.03	0.97812	.	0.049136	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-13.9464	20.5596	0.99324	0.0:0.0:1.0:0.0	.	.	.	.	X	255;125;255	.	ENSP00000255305:Q255X	Q	-	1	0	XPO4	20299283	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.975000	0.93437	2.868000	0.98415	0.555000	0.69702	CAA		0.393	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		19	44	0	0	0	1	0	19	44				
ZNF462	58499	broad.mit.edu	37	9	109701288	109701288	+	Silent	SNP	C	C	G			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr9:109701288C>G	ENST00000277225.5	+	7	6616	c.6327C>G	c.(6325-6327)gcC>gcG	p.A2109A	ZNF462_ENST00000457913.1_Silent_p.A2169A|ZNF462_ENST00000441147.2_Silent_p.A1015A|ZNF462_ENST00000542028.1_Silent_p.A66A			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2109					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ACGGAAAAGCCCTGACCCTCC	0.557																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(6325-6327)gcC>gcG		zinc finger protein 462							254.0	243.0	247.0					9																	109701288		2203	4300	6503	SO:0001819	synonymous_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109701288C>G	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.6327C>G	9.37:g.109701288C>G						ZNF462_ENST00000542028.1_Silent_p.A66A|ZNF462_ENST00000457913.1_Silent_p.A2169A|ZNF462_ENST00000441147.2_Silent_p.A1015A	p.A2109A			Q96JM2	ZN462_HUMAN			7	6616	+			2109					Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	c.6327C>G	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.391180	0.25118	.	.	ENSG00000148143	ENST00000427098	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	T	0.65026	0.2652	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62595	-0.6821	4	.	.	.	.	12.8738	0.57980	0.2706:0.7294:0.0:0.0	.	.	.	.	A	11	.	.	P	+	1	0	ZNF462	108741109	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.310000	0.43708	2.681000	0.91329	0.655000	0.94253	CCT		0.557	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		84	183	0	0	0	1	0	84	183				
GGT5	2687	broad.mit.edu	37	22	24621251	24621251	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr22:24621251C>T	ENST00000327365.4	-	10	1881	c.1465G>A	c.(1465-1467)Ggg>Agg	p.G489R	GGT5_ENST00000418439.2_Missense_Mutation_p.G413R|GGT5_ENST00000398292.3_Missense_Mutation_p.G490R|GGT5_ENST00000263112.7_Missense_Mutation_p.G457R	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	489					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.G489R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						CCGCCAGCCCCGCCAATCACT	0.622																																						ENST00000327365.4																			1	Substitution - Missense(1)	p.G489R(1)	prostate(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						c.(1465-1467)Ggg>Agg		gamma-glutamyltransferase 5							53.0	58.0	56.0					22																	24621251		2203	4300	6503	SO:0001583	missense	2687				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr22:24621251C>T	M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"""Gamma-glutamyltransferases"""	4260	protein-coding gene	gene with protein product		137168	"""gamma-glutamyltransferase-like activity 1"""	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.1465G>A	22.37:g.24621251C>T	ENSP00000330080:p.Gly489Arg					GGT5_ENST00000418439.2_Missense_Mutation_p.G413R|GGT5_ENST00000263112.7_Missense_Mutation_p.G457R|GGT5_ENST00000398292.3_Missense_Mutation_p.G490R	p.G489R	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN			10	1881	-			489					Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Missense_Mutation	SNP	ENST00000327365.4	37	c.1465G>A	CCDS13825.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500354	0.85176	.	.	ENSG00000099998	ENST00000327365;ENST00000263112;ENST00000438024;ENST00000398292;ENST00000418439	T;T;T;T	0.07021	3.23;3.23;3.23;3.23	4.6	4.6	0.57074	.	0.227922	0.44097	D	0.000481	T	0.34745	0.0908	M	0.90814	3.15	0.51012	D	0.999905	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	1.0;0.996;0.997;0.981;0.997	T	0.35574	-0.9783	10	0.87932	D	0	-32.5583	13.3198	0.60426	0.0:1.0:0.0:0.0	.	413;457;489;490;489	E7EUG3;P36269-2;Q53XM9;Q6GMP0;P36269	.;.;.;.;GGT5_HUMAN	R	489;457;404;490;413	ENSP00000330080:G489R;ENSP00000263112:G457R;ENSP00000381340:G490R;ENSP00000392146:G413R	ENSP00000263112:G457R	G	-	1	0	GGT5	22951251	0.994000	0.37717	0.879000	0.34478	0.934000	0.57294	3.622000	0.54217	2.278000	0.76064	0.555000	0.69702	GGG		0.622	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		17	44	0	0	0	1	0	17	44				
ZNF490	57474	broad.mit.edu	37	19	12691963	12691963	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr19:12691963T>A	ENST00000311437.6	-	5	1048	c.926A>T	c.(925-927)aAg>aTg	p.K309M	CTD-2192J16.20_ENST00000593682.1_5'Flank|ZNF490_ENST00000465656.1_5'Flank	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	309					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(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						CCCACATTGCTTACATTCATA	0.423																																						ENST00000311437.6																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(925-927)aAg>aTg		zinc finger protein 490							81.0	77.0	78.0					19																	12691963		2203	4300	6503	SO:0001583	missense	57474				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12691963T>A	AB033024	CCDS12272.1	19p13.2	2013-01-08			ENSG00000188033	ENSG00000188033		"""Zinc fingers, C2H2-type"", ""-"""	23705	protein-coding gene	gene with protein product							Standard	NM_020714		Approved	KIAA1198	uc002mtz.2	Q9ULM2	OTTHUMG00000156398	ENST00000311437.6:c.926A>T	19.37:g.12691963T>A	ENSP00000311521:p.Lys309Met						p.K309M	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN			5	1048	-			309						Missense_Mutation	SNP	ENST00000311437.6	37	c.926A>T	CCDS12272.1	.	.	.	.	.	.	.	.	.	.	T	17.03	3.285860	0.59867	.	.	ENSG00000188033	ENST00000311437	T	0.08193	3.12	0.996	-0.191	0.13252	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20495	0.0493	M	0.69358	2.11	0.09310	N	0.999999	D	0.71674	0.998	D	0.69307	0.963	T	0.07751	-1.0756	9	0.87932	D	0	.	6.2323	0.20742	0.0:0.0:0.5081:0.4919	.	309	Q9ULM2	ZN490_HUMAN	M	309	ENSP00000311521:K309M	ENSP00000311521:K309M	K	-	2	0	ZNF490	12552963	0.000000	0.05858	0.112000	0.21494	0.897000	0.52465	-1.409000	0.02483	-0.124000	0.11724	0.402000	0.26972	AAG		0.423	ZNF490-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344073.1	NM_020714		4	87	0	0	0	1	0	4	87				
PSG7	5676	broad.mit.edu	37	19	43433714	43433714	+	RNA	SNP	C	C	G			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr19:43433714C>G	ENST00000406070.2	-	0	685				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				CTGTTGGTTTCAGACAGCTGC	0.507																																						ENST00000406070.2																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							297.0	299.0	298.0					19																	43433714		2201	4300	6501			5676				female pregnancy	extracellular region		g.chr19:43433714C>G			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43433714C>G						PSG7_ENST00000446844.3_RNA		NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN			0	685	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.507	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		104	253	0	0	0	1	0	104	253				
LRRN4	164312	broad.mit.edu	37	20	6031443	6031443	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr20:6031443T>C	ENST00000378858.4	-	3	1066	c.842A>G	c.(841-843)cAg>cGg	p.Q281R		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	281					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CAGAAGGACCTGTAGATGTGG	0.453																																						ENST00000378858.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						c.(841-843)cAg>cGg		leucine rich repeat neuronal 4							167.0	162.0	164.0					20																	6031443		2203	4300	6503	SO:0001583	missense	164312					integral to membrane		g.chr20:6031443T>C	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.842A>G	20.37:g.6031443T>C	ENSP00000368135:p.Gln281Arg						p.Q281R	NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN			3	1066	-			281					A8K258|Q5JWV6|Q9H419	Missense_Mutation	SNP	ENST00000378858.4	37	c.842A>G	CCDS13097.1	.	.	.	.	.	.	.	.	.	.	T	5.525	0.281824	0.10458	.	.	ENSG00000125872	ENST00000378858	T	0.54479	0.57	5.68	4.58	0.56647	.	0.436138	0.20495	N	0.091212	T	0.35098	0.0920	N	0.25890	0.77	0.09310	N	1	B;B	0.18461	0.028;0.001	B;B	0.17433	0.018;0.006	T	0.18272	-1.0342	10	0.28530	T	0.3	-15.2896	5.7112	0.17935	0.0:0.1576:0.1448:0.6976	.	281;281	Q6ZMD1;Q8WUT4	.;LRRN4_HUMAN	R	281	ENSP00000368135:Q281R	ENSP00000368135:Q281R	Q	-	2	0	LRRN4	5979443	0.032000	0.19561	0.028000	0.17463	0.387000	0.30353	0.596000	0.24044	0.993000	0.38866	0.402000	0.26972	CAG		0.453	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		34	55	0	0	0	1	0	34	55				
MEGF10	84466	broad.mit.edu	37	5	126791206	126791206	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr5:126791206G>A	ENST00000274473.6	+	25	3406	c.3139G>A	c.(3139-3141)Ggt>Agt	p.G1047S	MEGF10_ENST00000510828.1_3'UTR|MEGF10_ENST00000503335.2_Missense_Mutation_p.G1047S	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	1047	Necessary for formation of large intracellular vacuoles.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CTCAGAGTGTGGTTATGTGGA	0.428																																						ENST00000274473.6																			0				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(3139-3141)Ggt>Agt		multiple EGF-like-domains 10							112.0	118.0	116.0					5																	126791206		2203	4300	6503	SO:0001583	missense	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126791206G>A	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.3139G>A	5.37:g.126791206G>A	ENSP00000274473:p.Gly1047Ser					MEGF10_ENST00000503335.2_Missense_Mutation_p.G1047S|MEGF10_ENST00000510828.1_3'UTR	p.G1047S	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	25	3406	+		Prostate(80;0.165)	1047			Necessary for formation of large intracellular vacuoles.		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	c.3139G>A	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	G	9.335	1.061409	0.19987	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	T;T	0.69806	-0.43;-0.43	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000001	T	0.53965	0.1829	N	0.20530	0.585	0.58432	D	0.999998	B	0.19073	0.033	B	0.22386	0.039	T	0.48399	-0.9039	10	0.15066	T	0.55	-27.4736	19.5463	0.95299	0.0:0.0:1.0:0.0	.	1047	Q96KG7	MEG10_HUMAN	S	1047	ENSP00000423354:G1047S;ENSP00000274473:G1047S	ENSP00000274473:G1047S	G	+	1	0	MEGF10	126819105	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	6.297000	0.72757	2.679000	0.91253	0.655000	0.94253	GGT		0.428	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		37	75	0	0	0	1	0	37	75				
KRTAP13-1	140258	broad.mit.edu	37	21	31768649	31768649	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr21:31768649G>A	ENST00000355459.2	+	1	258	c.245G>A	c.(244-246)cGt>cAt	p.R82H		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	82	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCCTGCTACCGTCCCAGAACC	0.607																																						ENST00000355459.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(244-246)cGt>cAt		keratin associated protein 13-1							66.0	66.0	66.0					21																	31768649		2203	4300	6503	SO:0001583	missense	140258					intermediate filament		g.chr21:31768649G>A	AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390		"""Keratin associated proteins"""	18924	protein-coding gene	gene with protein product		608718				12359730	Standard	NM_181599		Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.245G>A	21.37:g.31768649G>A	ENSP00000347635:p.Arg82His						p.R82H	NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN			1	258	+			82			5 X 10 AA approximate repeats.		Q14D20|Q3LI79	Missense_Mutation	SNP	ENST00000355459.2	37	c.245G>A	CCDS13590.2	.	.	.	.	.	.	.	.	.	.	G	6.433	0.448056	0.12223	.	.	ENSG00000198390	ENST00000355459	T	0.03496	3.91	4.51	-4.5	0.03493	.	0.161204	0.28871	N	0.013862	T	0.01976	0.0062	L	0.35487	1.065	0.09310	N	1	B	0.23185	0.081	B	0.22601	0.04	T	0.42498	-0.9448	10	0.22706	T	0.39	.	0.9109	0.01295	0.4047:0.1114:0.2077:0.2762	.	82	Q8IUC0	KR131_HUMAN	H	82	ENSP00000347635:R82H	ENSP00000347635:R82H	R	+	2	0	KRTAP13-1	30690520	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.215000	0.17562	-0.971000	0.03564	-0.259000	0.10710	CGT		0.607	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128252.3			3	54	0	0	0	1	0	3	54				
RGPD3	653489	broad.mit.edu	37	2	107049631	107049631	+	Silent	SNP	C	C	T			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr2:107049631C>T	ENST00000409886.3	-	16	2403	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A	RGPD3_ENST00000304514.7_Silent_p.A772A	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	772					protein targeting to Golgi (GO:0000042)			p.A772A(4)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTCTGAATCCGCATTTCGCA	0.373																																						ENST00000409886.3																			4	Substitution - coding silent(4)	p.A772A(4)	kidney(2)|endometrium(2)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2314-2316)gcG>gcA		RANBP2-like and GRIP domain containing 3							81.0	68.0	72.0					2																	107049631		692	1590	2282	SO:0001819	synonymous_variant	653489				intracellular transport		binding	g.chr2:107049631C>T		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.2316G>A	2.37:g.107049631C>T						RGPD3_ENST00000304514.7_Silent_p.A772A	p.A772A	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2403	-			772					B8ZZM4	Silent	SNP	ENST00000409886.3	37	c.2316G>A	CCDS46379.1																																																																																				0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		4	273	0	0	0	1	0	4	273				
ZFYVE1	53349	broad.mit.edu	37	14	73464594	73464594	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr14:73464594C>G	ENST00000556143.1	-	3	1633	c.913G>C	c.(913-915)Gat>Cat	p.D305H	ZFYVE1_ENST00000318876.5_Missense_Mutation_p.D305H|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.D305H	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	305					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		AAAGGGACATCCAGGCCACAG	0.542																																						ENST00000556143.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35						c.(913-915)Gat>Cat		zinc finger, FYVE domain containing 1							73.0	62.0	66.0					14																	73464594		2203	4300	6503	SO:0001583	missense	53349					endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr14:73464594C>G	AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.913G>C	14.37:g.73464594C>G	ENSP00000450742:p.Asp305His					ZFYVE1_ENST00000318876.5_Missense_Mutation_p.D305H|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.D305H	p.D305H	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)	3	1633	-		all_lung(585;1.33e-09)	305					J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	ENST00000556143.1	37	c.913G>C	CCDS9811.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.811025	0.90707	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143	T;T;T	0.65732	-0.17;-0.16;-0.17	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.78824	0.4344	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70227	0.965;0.968	T	0.79555	-0.1755	10	0.72032	D	0.01	-21.8098	19.869	0.96843	0.0:1.0:0.0:0.0	.	305;305	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	H	305	ENSP00000452442:D305H;ENSP00000326921:D305H;ENSP00000450742:D305H	ENSP00000326921:D305H	D	-	1	0	ZFYVE1	72534347	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.747000	0.85070	2.709000	0.92574	0.591000	0.81541	GAT		0.542	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		17	24	0	0	0	1	0	17	24				
TRMT2A	27037	broad.mit.edu	37	22	20104421	20104421	+	Silent	SNP	C	C	T			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr22:20104421C>T	ENST00000252136.7	-	1	397	c.9G>A	c.(7-9)gaG>gaA	p.E3E	RANBP1_ENST00000402752.1_5'Flank|TRMT2A_ENST00000403707.3_Silent_p.E3E|TRMT2A_ENST00000492988.1_5'Flank|TRMT2A_ENST00000439169.2_Silent_p.E3E|RANBP1_ENST00000430524.1_Intron|TRMT2A_ENST00000404751.3_Silent_p.E3E|RANBP1_ENST00000331821.3_5'Flank	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	3					RNA processing (GO:0006396)		nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)			breast(2)|endometrium(2)|lung(5)	9						TGTCGAGGTTCTCACTCATCG	0.657																																						ENST00000252136.7																			0				breast(2)|endometrium(2)|lung(5)	9						c.(7-9)gaG>gaA		tRNA methyltransferase 2 homolog A (S. cerevisiae)							51.0	32.0	38.0					22																	20104421		2192	4294	6486	SO:0001819	synonymous_variant	27037				RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity	g.chr22:20104421C>T	BC017184	CCDS13774.1, CCDS58793.1	22q11.21	2014-02-12	2012-06-12		ENSG00000099899	ENSG00000099899			24974	protein-coding gene	gene with protein product	"""HpaII tiny fragments locus 9C"""	611151				9417108, 18075473	Standard	NM_022727		Approved	HTF9C	uc002zrl.2	Q8IZ69	OTTHUMG00000150454	ENST00000252136.7:c.9G>A	22.37:g.20104421C>T						TRMT2A_ENST00000403707.3_Silent_p.E3E|RANBP1_ENST00000430524.1_Intron|TRMT2A_ENST00000439169.2_Silent_p.E3E|TRMT2A_ENST00000404751.3_Silent_p.E3E	p.E3E	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN			1	397	-			3					D3DX25|Q32P57|Q96ME6|Q9H732	Silent	SNP	ENST00000252136.7	37	c.9G>A	CCDS13774.1																																																																																				0.657	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318168.3	NM_022727		3	3	0	0	0	1	0	3	3				
FAM179A	165186	broad.mit.edu	37	2	29247231	29247231	+	Missense_Mutation	SNP	C	C	T	rs373300546		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr2:29247231C>T	ENST00000379558.4	+	13	2195	c.1844C>T	c.(1843-1845)gCg>gTg	p.A615V	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.A560V	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	615										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTCACCTCGGCGGGTGTCTAG	0.617																																						ENST00000379558.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1843-1845)gCg>gTg		family with sequence similarity 179, member A		C	VAL/ALA	0,4024		0,0,2012	32.0	33.0	32.0		1844	3.1	0.1	2		32	1,8369		0,1,4184	no	missense	FAM179A	NM_199280.2	64	0,1,6196	TT,TC,CC		0.0119,0.0,0.0081	benign	615/1020	29247231	1,12393	2012	4185	6197	SO:0001583	missense	165186						binding	g.chr2:29247231C>T	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.1844C>T	2.37:g.29247231C>T	ENSP00000368876:p.Ala615Val					FAM179A_ENST00000403861.2_Missense_Mutation_p.A560V|FAM179A_ENST00000465300.1_3'UTR	p.A615V	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN			13	2195	+			615					Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	c.1844C>T	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	C	10.15	1.270616	0.23221	0.0	1.19E-4	ENSG00000189350	ENST00000401723;ENST00000379558;ENST00000403861;ENST00000440012	T;T;T;T	0.14391	2.51;2.51;2.51;2.51	4.99	3.13	0.36017	Armadillo-like helical (1);Armadillo-type fold (1);CLASP N-terminal domain (1);	0.289012	0.29551	N	0.011832	T	0.07863	0.0197	L	0.29908	0.895	0.09310	N	0.999994	B;B	0.22211	0.054;0.066	B;B	0.14578	0.007;0.011	T	0.26538	-1.0100	10	0.27082	T	0.32	.	3.5981	0.08014	0.1264:0.4256:0.3467:0.1013	.	560;615	F8W8E4;Q6ZUX3	.;F179A_HUMAN	V	50;615;560;110	ENSP00000384897:A50V;ENSP00000368876:A615V;ENSP00000384699:A560V;ENSP00000396739:A110V	ENSP00000368876:A615V	A	+	2	0	FAM179A	29100735	0.007000	0.16637	0.069000	0.20011	0.256000	0.26092	0.830000	0.27462	1.087000	0.41251	0.462000	0.41574	GCG		0.617	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		4	14	0	0	0	1	0	4	14				
UBN2	254048	broad.mit.edu	37	7	138968836	138968836	+	Missense_Mutation	SNP	A	A	G	rs201276230		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr7:138968836A>G	ENST00000473989.3	+	15	3185	c.3185A>G	c.(3184-3186)aAg>aGg	p.K1062R	UBN2_ENST00000288561.8_Missense_Mutation_p.K979R	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1062	Ser-rich.					extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GCCTCACCCAAGCCCTCTCTG	0.517													A|||	1	0.000199681	0.0	0.0	5008	,	,		20128	0.0		0.001	False		,,,				2504	0.0					ENST00000288561.8																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						c.(2935-2937)aAg>aGg		ubinuclein 2		A	ARG/LYS	0,4014		0,0,2007	96.0	104.0	102.0		3185	5.2	1.0	7		102	5,8331		0,5,4163	yes	missense	UBN2	NM_173569.3	26	0,5,6170	GG,GA,AA		0.06,0.0,0.0405	possibly-damaging	1062/1348	138968836	5,12345	2007	4168	6175	SO:0001583	missense	254048							g.chr7:138968836A>G	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.3185A>G	7.37:g.138968836A>G	ENSP00000418648:p.Lys1062Arg					UBN2_ENST00000473989.2_Missense_Mutation_p.K1062R	p.K979R	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN			15	3185	+			1062			Ser-rich.		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	c.2936A>G	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	A	16.46	3.128274	0.56721	0.0	6.0E-4	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.35605	1.3;1.39	5.19	5.19	0.71726	.	0.423266	0.26045	N	0.026674	T	0.47116	0.1428	L	0.40543	1.245	0.33874	D	0.635304	P	0.52842	0.956	D	0.65010	0.931	T	0.54944	-0.8217	10	0.25751	T	0.34	-10.9652	13.3205	0.60430	1.0:0.0:0.0:0.0	.	1062	Q6ZU65	UBN2_HUMAN	R	1062;979	ENSP00000418648:K1062R;ENSP00000288561:K979R	ENSP00000288561:K979R	K	+	2	0	UBN2	138619376	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.072000	0.71238	2.087000	0.62958	0.455000	0.32223	AAG		0.517	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		28	54	0	0	0	1	0	28	54				
SIPA1L2	57568	broad.mit.edu	37	1	232600814	232600814	+	Silent	SNP	G	G	A	rs376260317		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:232600814G>A	ENST00000366630.1	-	8	2950	c.2592C>T	c.(2590-2592)ttC>ttT	p.F864F	SIPA1L2_ENST00000308942.4_5'Flank|SIPA1L2_ENST00000262861.4_Silent_p.F864F			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	864					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CAGACTGGCCGAAGTCCCGGG	0.473																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(2590-2592)ttC>ttT		signal-induced proliferation-associated 1 like 2		G		0,3936		0,0,1968	103.0	102.0	102.0		2592	-2.1	1.0	1		102	1,8291		0,1,4145	no	coding-synonymous	SIPA1L2	NM_020808.3		0,1,6113	AA,AG,GG		0.0121,0.0,0.0082		864/1723	232600814	1,12227	1968	4146	6114	SO:0001819	synonymous_variant	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232600814G>A	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2592C>T	1.37:g.232600814G>A						SIPA1L2_ENST00000262861.4_Silent_p.F864F	p.F864F			Q9P2F8	SI1L2_HUMAN			8	2950	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	864					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	ENST00000366630.1	37	c.2592C>T	CCDS41474.1																																																																																				0.473	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		4	122	0	0	0	1	0	4	122				
TBP	6908	broad.mit.edu	37	6	170871043	170871043	+	Silent	SNP	G	G	A			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr6:170871043G>A	ENST00000392092.2	+	3	498	c.219G>A	c.(217-219)caG>caA	p.Q73Q	TBP_ENST00000230354.6_Silent_p.Q73Q|TBP_ENST00000540980.1_Silent_p.Q53Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	73	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q73Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcaacagcaacagcagc	0.562																																						ENST00000392092.2																			1	Substitution - coding silent(1)	p.Q73Q(1)	endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(217-219)caG>caA		TATA box binding protein							17.0	21.0	20.0					6																	170871043		1987	3877	5864	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871043G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.219G>A	6.37:g.170871043G>A						TBP_ENST00000230354.6_Silent_p.Q73Q|TBP_ENST00000540980.1_Silent_p.Q53Q	p.Q73Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	498	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	73			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.219G>A	CCDS5315.1																																																																																				0.562	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		5	50	0	0	0	1	0	5	50				
KCND3	3752	broad.mit.edu	37	1	112525243	112525243	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:112525243T>A	ENST00000315987.2	-	2	585	c.106A>T	c.(106-108)Aag>Tag	p.K36*	KCND3_ENST00000369697.1_Nonsense_Mutation_p.K36*|KCND3_ENST00000302127.4_Nonsense_Mutation_p.K36*	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	36					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TCCTGCCGCTTGTTCTTGTCG	0.687																																						ENST00000369697.1																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49						c.(106-108)Aag>Tag		potassium voltage-gated channel, Shal-related subfamily, member 3							45.0	44.0	44.0					1																	112525243		2203	4300	6503	SO:0001587	stop_gained	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112525243T>A	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.106A>T	1.37:g.112525243T>A	ENSP00000319591:p.Lys36*					KCND3_ENST00000315987.2_Nonsense_Mutation_p.K36*|KCND3_ENST00000302127.4_Nonsense_Mutation_p.K36*	p.K36*			Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	1	175	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	36					O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Nonsense_Mutation	SNP	ENST00000315987.2	37	c.106A>T	CCDS843.1	.	.	.	.	.	.	.	.	.	.	T	38	7.110987	0.98070	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0923	0.72204	0.0:0.0:0.0:1.0	.	.	.	.	X	36	.	ENSP00000306923:K36X	K	-	1	0	KCND3	112326766	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.289000	0.72696	2.055000	0.61198	0.459000	0.35465	AAG		0.687	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		5	51	0	0	0	1	0	5	51				
FAT2	2196	broad.mit.edu	37	5	150947571	150947571	+	Missense_Mutation	SNP	G	G	A	rs370670557		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr5:150947571G>A	ENST00000261800.5	-	1	934	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	308					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCATTGCTCCGGGCATAAGAC	0.522																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(922-924)Cgg>Tgg		FAT atypical cadherin 2		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	85.0	88.0	87.0		922	4.7	0.6	5		87	0,8600		0,0,4300	no	missense	FAT2	NM_001447.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	308/4350	150947571	1,13005	2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150947571G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.922C>T	5.37:g.150947571G>A	ENSP00000261800:p.Arg308Trp						p.R308W	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	934	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	308					O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.922C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588495	0.28357	2.27E-4	0.0	ENSG00000086570	ENST00000261800	T	0.71461	-0.57	5.54	4.65	0.58169	.	0.450652	0.20562	N	0.089898	T	0.53351	0.1791	N	0.08118	0	0.09310	N	1	D	0.54772	0.968	B	0.44315	0.446	T	0.53208	-0.8471	10	0.52906	T	0.07	.	12.7616	0.57367	0.0:0.4063:0.5937:0.0	.	308	Q9NYQ8	FAT2_HUMAN	W	308	ENSP00000261800:R308W	ENSP00000261800:R308W	R	-	1	2	FAT2	150927764	0.030000	0.19436	0.634000	0.29324	0.782000	0.44232	1.684000	0.37649	2.603000	0.88011	0.484000	0.47621	CGG		0.522	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		31	82	0	0	0	1	0	31	82				
C10orf76	79591	broad.mit.edu	37	10	103751749	103751749	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr10:103751749C>T	ENST00000370033.4	-	18	1441	c.1322G>A	c.(1321-1323)cGt>cAt	p.R441H		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	441						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		TACTAAAGGACGGCAGGGAAG	0.438																																						ENST00000370033.4																			0				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24						c.(1321-1323)cGt>cAt		chromosome 10 open reading frame 76							268.0	259.0	262.0					10																	103751749		1976	4169	6145	SO:0001583	missense	79591					integral to membrane		g.chr10:103751749C>T	AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.1322G>A	10.37:g.103751749C>T	ENSP00000359050:p.Arg441His						p.R441H	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)	18	1441	-		Colorectal(252;0.123)	441					Q2TB87|Q9H8Z9	Missense_Mutation	SNP	ENST00000370033.4	37	c.1322G>A	CCDS41563.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.985225	0.93044	.	.	ENSG00000120029	ENST00000370033;ENST00000431271;ENST00000263485;ENST00000456149	.	.	.	5.55	5.55	0.83447	Domain of unknown function DUF1741 (1);	0.000000	0.85682	D	0.000000	T	0.54549	0.1865	L	0.47716	1.5	0.80722	D	1	P	0.47253	0.892	B	0.39379	0.298	T	0.61613	-0.7027	9	0.72032	D	0.01	-9.8294	19.8575	0.96767	0.0:1.0:0.0:0.0	.	441	Q5T2E6	CJ076_HUMAN	H	441;16;67;67	.	ENSP00000263485:R67H	R	-	2	0	C10orf76	103741739	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.621000	0.74228	2.767000	0.95098	0.563000	0.77884	CGT		0.438	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	NM_024541		39	85	0	0	0	1	0	39	85				
UGT2A3	79799	broad.mit.edu	37	4	69816966	69816966	+	Missense_Mutation	SNP	T	T	A	rs372964177		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr4:69816966T>A	ENST00000251566.4	-	1	543	c.513A>T	c.(511-513)agA>agT	p.R171S	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	171					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CTACAGAAATTCTAAGTGTGA	0.468																																						ENST00000251566.4																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(511-513)agA>agT		UDP glucuronosyltransferase 2 family, polypeptide A3							56.0	56.0	56.0					4																	69816966		2203	4299	6502	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69816966T>A		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.513A>T	4.37:g.69816966T>A	ENSP00000251566:p.Arg171Ser					UGT2A3_ENST00000420231.2_5'UTR	p.R171S	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN			1	543	-			171					Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.513A>T	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	T	16.24	3.066602	0.55539	.	.	ENSG00000135220	ENST00000251566	T	0.63255	-0.03	4.74	-9.48	0.00591	.	0.197551	0.39475	N	0.001348	T	0.60676	0.2287	M	0.63843	1.955	0.18873	N	0.999981	D	0.63046	0.992	D	0.63957	0.92	T	0.60250	-0.7300	10	0.56958	D	0.05	.	3.7272	0.08478	0.0887:0.1755:0.3784:0.3574	.	171	Q6UWM9	UD2A3_HUMAN	S	171	ENSP00000251566:R171S	ENSP00000251566:R171S	R	-	3	2	UGT2A3	69851555	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-8.793000	0.00016	-2.406000	0.00574	0.482000	0.46254	AGA		0.468	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		5	34	0	0	0	1	0	5	34				
IFT88	8100	broad.mit.edu	37	13	21219039	21219039	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr13:21219039A>G	ENST00000319980.6	+	22	2245	c.1918A>G	c.(1918-1920)Att>Gtt	p.I640V	IFT88_ENST00000351808.5_Missense_Mutation_p.I631V|IFT88_ENST00000382778.4_Missense_Mutation_p.I640V|IFT88_ENST00000537103.1_Missense_Mutation_p.I612V	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	640					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		AGCCTATTACATTGACACCCA	0.318																																						ENST00000382778.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27						c.(1918-1920)Att>Gtt		intraflagellar transport 88 homolog (Chlamydomonas)							121.0	122.0	122.0					13																	21219039		2203	4296	6499	SO:0001583	missense	8100				cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	g.chr13:21219039A>G	AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	20606	protein-coding gene	gene with protein product	"""polaris homolog"""	600595	"""tetratricopeptide repeat domain 10"", ""intraflagellar transport 88 homolog (Chlamydomonas)"""	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.1918A>G	13.37:g.21219039A>G	ENSP00000323580:p.Ile640Val					IFT88_ENST00000319980.6_Missense_Mutation_p.I640V|IFT88_ENST00000351808.5_Missense_Mutation_p.I631V|IFT88_ENST00000537103.1_Missense_Mutation_p.I612V	p.I640V			Q13099	IFT88_HUMAN		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)	21	3036	+		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)	640					A2A491|B4DUS2|Q5SZJ6|Q8N719	Missense_Mutation	SNP	ENST00000319980.6	37	c.1918A>G	CCDS31944.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.198598	0.38806	.	.	ENSG00000032742	ENST00000382778;ENST00000351808;ENST00000319980;ENST00000537103	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.48	5.48	0.80851	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.151249	0.56097	D	0.000034	T	0.70281	0.3206	L	0.27053	0.805	0.54753	D	0.999987	B;P	0.39535	0.137;0.677	B;B	0.43445	0.058;0.42	T	0.67047	-0.5769	10	0.17369	T	0.5	-24.6286	15.8579	0.78994	1.0:0.0:0.0:0.0	.	612;640	F5H6C2;Q13099	.;IFT88_HUMAN	V	640;631;640;612	ENSP00000372228:I640V;ENSP00000261632:I631V;ENSP00000323580:I640V;ENSP00000437719:I612V	ENSP00000323580:I640V	I	+	1	0	IFT88	20117039	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.099000	0.64554	2.191000	0.70037	0.528000	0.53228	ATT		0.318	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3	NM_006531		31	84	0	0	0	1	0	31	84				
CIART	148523	broad.mit.edu	37	1	150259073	150259073	+	Missense_Mutation	SNP	G	G	A	rs147269137		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:150259073G>A	ENST00000290363.5	+	5	1314	c.865G>A	c.(865-867)Ggc>Agc	p.G289S	C1orf51_ENST00000369095.1_Missense_Mutation_p.G289S|C1orf51_ENST00000369094.1_Missense_Mutation_p.G201S	NM_144697.2	NP_653298.1	Q8N365	CIART_HUMAN		289					circadian regulation of gene expression (GO:0032922)|locomotor rhythm (GO:0045475)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|E-box binding (GO:0070888)			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACTGGAACCGGCATTGGCGT	0.552																																						ENST00000290363.5																			0				endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10						c.(865-867)Ggc>Agc		chromosome 1 open reading frame 51		G	SER/GLY	0,4406		0,0,2203	219.0	185.0	196.0		865	3.2	1.0	1	dbSNP_134	196	1,8599	1.2+/-3.3	0,1,4299	no	missense	C1orf51	NM_144697.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	289/386	150259073	1,13005	2203	4300	6503	SO:0001583	missense	148523							g.chr1:150259073G>A																												ENST00000290363.5:c.865G>A	1.37:g.150259073G>A	ENSP00000290363:p.Gly289Ser					C1orf51_ENST00000369095.1_Missense_Mutation_p.G289S|C1orf51_ENST00000369094.1_Missense_Mutation_p.G201S	p.G289S	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		5	1314	+	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		289					B2RD43|D3DV01|Q8N795|Q96MG6	Missense_Mutation	SNP	ENST00000290363.5	37	c.865G>A	CCDS949.1	.	.	.	.	.	.	.	.	.	.	G	0.058	-1.231149	0.01518	0.0	1.16E-4	ENSG00000159208	ENST00000447007;ENST00000369095;ENST00000369094;ENST00000417398;ENST00000290363	.	.	.	5.51	3.23	0.37069	.	0.487638	0.23072	N	0.052244	T	0.01287	0.0042	N	0.00197	-1.87	0.25573	N	0.986875	B	0.06786	0.001	B	0.09377	0.004	T	0.47045	-0.9147	9	0.02654	T	1	-0.5123	6.5352	0.22350	0.7233:0.0:0.2767:0.0	.	289	Q8N365	CA051_HUMAN	S	201;289;201;201;289	.	ENSP00000290363:G289S	G	+	1	0	C1orf51	148525697	0.997000	0.39634	1.000000	0.80357	0.115000	0.19883	1.519000	0.35888	0.542000	0.28846	-0.367000	0.07326	GGC		0.552	C1orf51-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035058.1			5	156	0	0	0	1	0	5	156				
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			7	93	0	0	0	1	0	7	93				
RGMB	285704	broad.mit.edu	37	5	98115452	98115452	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr5:98115452A>G	ENST00000513185.1	+	2	741	c.305A>G	c.(304-306)aAc>aGc	p.N102S	RGMB_ENST00000504776.1_3'UTR|RGMB_ENST00000308234.7_Missense_Mutation_p.N143S			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	102					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		TGCCGTGGCAACCTGGTATAC	0.547																																						ENST00000308234.7																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10						c.(427-429)aAc>aGc		repulsive guidance molecule family member b							70.0	71.0	71.0					5																	98115452		1966	4153	6119	SO:0001583	missense	285704				axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding	g.chr5:98115452A>G	AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"""RGM domain family, member B"""			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.305A>G	5.37:g.98115452A>G	ENSP00000423256:p.Asn102Ser					RGMB_ENST00000513185.1_Missense_Mutation_p.N102S|RGMB_ENST00000504776.1_3'UTR	p.N143S	NM_001012761.2	NP_001012779.2	Q6NW40	RGMB_HUMAN		COAD - Colon adenocarcinoma(37;0.0587)	4	830	+		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)	102					D6R9A0|Q8NC92	Missense_Mutation	SNP	ENST00000513185.1	37	c.428A>G		.	.	.	.	.	.	.	.	.	.	A	22.9	4.350404	0.82132	.	.	ENSG00000174136	ENST00000308234;ENST00000513185	D;D	0.97620	-4.46;-4.46	5.4	5.4	0.78164	Repulsive guidance molecule, N-terminal (1);	0.040660	0.85682	D	0.000000	D	0.97967	0.9331	M	0.70595	2.14	0.80722	D	1	D	0.71674	0.998	D	0.67382	0.951	D	0.98362	1.0549	10	0.51188	T	0.08	-30.3943	15.7042	0.77565	1.0:0.0:0.0:0.0	.	102	Q6NW40	RGMB_HUMAN	S	143;102	ENSP00000308219:N143S;ENSP00000423256:N102S	ENSP00000308219:N143S	N	+	2	0	RGMB	98143352	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.910000	0.92685	2.171000	0.68590	0.460000	0.39030	AAC		0.547	RGMB-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370308.1	NM_173670		9	38	0	0	0	1	0	9	38				
ZPLD1	131368	broad.mit.edu	37	3	102171848	102171848	+	Silent	SNP	G	G	A			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr3:102171848G>A	ENST00000491959.1	+	10	1074	c.192G>A	c.(190-192)tcG>tcA	p.S64S	ZPLD1_ENST00000466937.1_Silent_p.S64S|ZPLD1_ENST00000306176.1_Silent_p.S80S			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	64	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CGGGTTATTCGGAAACAGATC	0.413																																						ENST00000306176.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						c.(238-240)tcG>tcA		zona pellucida-like domain containing 1							97.0	94.0	95.0					3																	102171848		2203	4300	6503	SO:0001819	synonymous_variant	131368					integral to membrane		g.chr3:102171848G>A	AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.192G>A	3.37:g.102171848G>A						ZPLD1_ENST00000491959.1_Silent_p.S64S|ZPLD1_ENST00000466937.1_Silent_p.S64S	p.S80S	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN			3	340	+			64			ZP.		Q49AS1|Q8WU36	Silent	SNP	ENST00000491959.1	37	c.240G>A																																																																																					0.413	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056		22	68	0	0	0	1	0	22	68				
ERMN	57471	broad.mit.edu	37	2	158181230	158181230	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr2:158181230C>T	ENST00000410096.1	-	2	577	c.286G>A	c.(286-288)Gat>Aat	p.D96N	ERMN_ENST00000397283.2_Missense_Mutation_p.D109N|ERMN_ENST00000420719.2_Intron|ERMN_ENST00000409925.1_Missense_Mutation_p.D96N|ERMN_ENST00000409216.1_Missense_Mutation_p.D96N|ERMN_ENST00000535935.1_5'UTR	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	96					actin filament organization (GO:0007015)|morphogenesis of a branching structure (GO:0001763)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|internode region of axon (GO:0033269)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|paranode region of axon (GO:0033270)				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						AGAGAAAGATCTGTGATAGCC	0.303																																						ENST00000410096.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						c.(286-288)Gat>Aat		ermin, ERM-like protein							123.0	112.0	115.0					2																	158181230		1824	4074	5898	SO:0001583	missense	57471					cytoplasm|cytoskeleton		g.chr2:158181230C>T	AB033015	CCDS42764.1, CCDS46431.1	2q24	2008-02-05	2008-01-15	2008-01-15	ENSG00000136541	ENSG00000136541			29208	protein-coding gene	gene with protein product	"""juxtanodin"", ""ermin"""	610072	"""KIAA1189"""	KIAA1189		16051705, 16421295	Standard	NM_020711		Approved	JN, ERMIN	uc002tzi.3	Q8TAM6	OTTHUMG00000153843	ENST00000410096.1:c.286G>A	2.37:g.158181230C>T	ENSP00000387047:p.Asp96Asn					ERMN_ENST00000535935.1_5'UTR|ERMN_ENST00000397283.2_Missense_Mutation_p.D109N|ERMN_ENST00000420719.2_Intron|ERMN_ENST00000409216.1_Missense_Mutation_p.D96N|ERMN_ENST00000409925.1_Missense_Mutation_p.D96N	p.D96N	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN			2	577	-			96					B4DKA6|Q9ULN1	Missense_Mutation	SNP	ENST00000410096.1	37	c.286G>A	CCDS46431.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.145909	0.77888	.	.	ENSG00000136541	ENST00000410096;ENST00000397283;ENST00000420317;ENST00000411762;ENST00000409216;ENST00000409925;ENST00000419116	T;T	0.52526	0.66;0.66	6.07	4.08	0.47627	.	0.193772	0.36703	N	0.002442	T	0.28267	0.0698	N	0.19112	0.55	0.80722	D	1	B;B	0.22414	0.069;0.069	B;B	0.19946	0.027;0.027	T	0.08806	-1.0704	10	0.29301	T	0.29	-18.5394	6.2414	0.20793	0.0:0.7584:0.0:0.2416	.	109;96	Q8TAM6-2;Q8TAM6	.;ERMIN_HUMAN	N	96;109;96;96;96;96;93	ENSP00000387049:D96N;ENSP00000387325:D96N	ENSP00000380453:D109N	D	-	1	0	ERMN	157889476	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.018000	0.30002	1.584000	0.49913	-0.137000	0.14449	GAT		0.303	ERMN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332659.1	NM_001009959		9	32	0	0	0	1	0	9	32				
ITGB2	3689	broad.mit.edu	37	21	46308729	46308729	+	Silent	SNP	C	C	T	rs545524615		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr21:46308729C>T	ENST00000397850.2	-	15	2411	c.1959G>A	c.(1957-1959)tcG>tcA	p.S653S	ITGB2_ENST00000397854.3_Silent_p.S596S|ITGB2_ENST00000355153.4_Silent_p.S653S|ITGB2_ENST00000397852.1_Silent_p.S653S|ITGB2_ENST00000397857.1_Silent_p.S653S|ITGB2_ENST00000302347.5_Silent_p.S653S			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	653					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CGGGGTTGTTCGACAGCTGCA	0.657																																						ENST00000397850.2																			0				breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35						c.(1957-1959)tcG>tcA		integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	Simvastatin(DB00641)						72.0	65.0	67.0					21																	46308729		2203	4300	6503	SO:0001819	synonymous_variant	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46308729C>T	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.1959G>A	21.37:g.46308729C>T						ITGB2_ENST00000355153.4_Silent_p.S653S|ITGB2_ENST00000302347.5_Silent_p.S653S|ITGB2_ENST00000397852.1_Silent_p.S653S|ITGB2_ENST00000397854.3_Silent_p.S596S|ITGB2_ENST00000397857.1_Silent_p.S653S	p.S653S			P05107	ITB2_HUMAN		Colorectal(79;0.0669)	15	2411	-			653					B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Silent	SNP	ENST00000397850.2	37	c.1959G>A	CCDS13716.1																																																																																				0.657	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211		6	37	0	0	0	1	0	6	37				
OMP	4975	broad.mit.edu	37	11	76814045	76814045	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr11:76814045C>T	ENST00000529803.1	+	1	160	c.160C>T	c.(160-162)Cgc>Tgc	p.R54C	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000278559.3_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	54					neurogenesis (GO:0022008)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.R54C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GTCTGTGTACCGCCTCAACTT	0.637																																						ENST00000529803.1																			1	Substitution - Missense(1)	p.R54C(1)	endometrium(1)	endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(160-162)Cgc>Tgc		olfactory marker protein							39.0	51.0	47.0					11																	76814045		2156	4260	6416	SO:0001583	missense	4975				sensory perception of smell|synaptic transmission			g.chr11:76814045C>T	U01212	CCDS53682.1	11q14-q21	2008-07-21				ENSG00000254550			8136	protein-coding gene	gene with protein product		164340				8499899	Standard	NM_006189		Approved		uc010rsk.2	P47874		ENST00000529803.1:c.160C>T	11.37:g.76814045C>T	ENSP00000436376:p.Arg54Cys					CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000278559.3_Intron	p.R54C	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN			1	160	+			54					Q562G2	Missense_Mutation	SNP	ENST00000529803.1	37	c.160C>T	CCDS53682.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.535669	0.45176	.	.	ENSG00000254550	ENST00000529803	T	0.36520	1.25	5.12	5.12	0.69794	.	.	.	.	.	T	0.48352	0.1495	L	0.32530	0.975	0.51767	D	0.99993	D	0.89917	1.0	D	0.78314	0.991	T	0.42137	-0.9469	9	0.52906	T	0.07	.	14.3251	0.66515	0.1485:0.8515:0.0:0.0	.	54	P47874	OMP_HUMAN	C	54	ENSP00000436376:R54C	ENSP00000436376:R54C	R	+	1	0	OMP	76491693	1.000000	0.71417	1.000000	0.80357	0.151000	0.21798	1.754000	0.38369	2.675000	0.91044	0.462000	0.41574	CGC		0.637	OMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382570.1	NM_006189		3	43	0	0	0	1	0	3	43				
ZFHX3	463	broad.mit.edu	37	16	72991718	72991718	+	Missense_Mutation	SNP	G	G	A	rs544025035	byFrequency	TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr16:72991718G>A	ENST00000268489.5	-	2	2999	c.2327C>T	c.(2326-2328)gCg>gTg	p.A776V	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	776	Poly-Ala.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgcagccaccgccgccgccgc	0.637													G|||	3	0.000599042	0.0	0.0014	5008	,	,		9476	0.0		0.0	False		,,,				2504	0.002					ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(2326-2328)gCg>gTg		zinc finger homeobox 3							12.0	19.0	16.0					16																	72991718		2087	4047	6134	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72991718G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2327C>T	16.37:g.72991718G>A	ENSP00000268489:p.Ala776Val					ZFHX3_ENST00000397992.5_Intron	p.A776V	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			2	2999	-		Ovarian(137;0.13)	776			Poly-Ala.		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.2327C>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	9.550	1.115674	0.20795	.	.	ENSG00000140836	ENST00000268489	T	0.74421	-0.84	5.49	4.53	0.55603	.	0.000000	0.36555	U	0.002527	T	0.50922	0.1644	N	0.08118	0	0.80722	D	1	P	0.43352	0.804	B	0.30251	0.113	T	0.57021	-0.7882	10	0.39692	T	0.17	.	15.7111	0.77629	0.0:0.0:0.8622:0.1378	.	776	Q15911	ZFHX3_HUMAN	V	776	ENSP00000268489:A776V	ENSP00000268489:A776V	A	-	2	0	ZFHX3	71549219	1.000000	0.71417	0.033000	0.17914	0.031000	0.12232	4.329000	0.59260	1.309000	0.44985	0.561000	0.74099	GCG		0.637	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		14	30	0	0	0	1	0	14	30				
SLC23A1	9963	broad.mit.edu	37	5	138714919	138714919	+	Silent	SNP	G	G	T			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr5:138714919G>T	ENST00000348729.3	-	9	1096	c.1050C>A	c.(1048-1050)ccC>ccA	p.P350P	SLC23A1_ENST00000503919.1_5'Flank|SLC23A1_ENST00000353963.3_Silent_p.P354P	NM_005847.4	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	350					brain development (GO:0007420)|dehydroascorbic acid transport (GO:0070837)|L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|lung development (GO:0030324)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|brush border (GO:0005903)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular organelle (GO:0043229)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dehydroascorbic acid transporter activity (GO:0033300)|L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium ion transmembrane transporter activity (GO:0015081)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	GTACTGGAGGGGGTGGTGCAC	0.607																																						ENST00000353963.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19						c.(1060-1062)ccC>ccA		solute carrier family 23 (ascorbic acid transporter), member 1	Vitamin C(DB00126)						110.0	107.0	108.0					5																	138714919		2203	4300	6503	SO:0001819	synonymous_variant	9963				brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity	g.chr5:138714919G>T	AF058317	CCDS4212.1, CCDS4213.1	5q31.2	2013-07-18	2013-07-18	2003-03-21	ENSG00000170482	ENSG00000170482		"""Solute carriers"""	10974	protein-coding gene	gene with protein product		603790	"""solute carrier family 23 (nucleobase transporters), member 2"""	SLC23A2		9804989, 10331392	Standard	NM_005847		Approved	YSPL3, SVCT1	uc003leg.3	Q9UHI7	OTTHUMG00000129228	ENST00000348729.3:c.1050C>A	5.37:g.138714919G>T						SLC23A1_ENST00000348729.3_Silent_p.P350P	p.P354P	NM_152685.3	NP_689898.2	Q9UHI7	S23A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		9	1100	-			350					O95191|Q8WWB6|Q9UGH4|Q9UI39	Silent	SNP	ENST00000348729.3	37	c.1062C>A	CCDS4212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.804|9.804	1.181368|1.181368	0.21787|0.21787	.|.	.|.	ENSG00000170482|ENSG00000170482	ENST00000453898|ENST00000504513	.|T	.|0.17370	.|2.28	5.26|5.26	3.35|3.35	0.38373|0.38373	.|.	0.054414|0.054414	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.22166|0.22166	0.0534|0.0534	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.03403|0.03403	-1.1040|-1.1040	6|7	0.66056|0.66056	D|D	0.02|0.02	-8.0643|-8.0643	3.2059|3.2059	0.06666|0.06666	0.0901:0.1363:0.5095:0.2641|0.0901:0.1363:0.5095:0.2641	.|.	.|.	.|.	.|.	H|T	305|97	.|ENSP00000422688:P97T	ENSP00000406720:P305H|ENSP00000422688:P97T	P|P	-|-	2|1	0|0	SLC23A1|SLC23A1	138742818|138742818	0.003000|0.003000	0.15002|0.15002	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	-1.277000|-1.277000	0.02812|0.02812	1.451000|1.451000	0.47736|0.47736	0.561000|0.561000	0.74099|0.74099	CCC|CCC		0.607	SLC23A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374185.1	NM_152685		33	60	1	0	1.57351e-24	1	1.74835e-24	33	60				
TBP	6908	broad.mit.edu	37	6	170871088	170871088	+	Silent	SNP	G	G	A			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr6:170871088G>A	ENST00000392092.2	+	3	543	c.264G>A	c.(262-264)caG>caA	p.Q88Q	TBP_ENST00000230354.6_Silent_p.Q88Q|TBP_ENST00000540980.1_Silent_p.Q68Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	88	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q88Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.612																																						ENST00000392092.2																			1	Substitution - coding silent(1)	p.Q88Q(1)	urinary_tract(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(262-264)caG>caA		TATA box binding protein																																				SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871088G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.264G>A	6.37:g.170871088G>A						TBP_ENST00000230354.6_Silent_p.Q88Q|TBP_ENST00000540980.1_Silent_p.Q68Q	p.Q88Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	543	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	88			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.264G>A	CCDS5315.1																																																																																				0.612	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		4	43	0	0	0	1	0	4	43				
SPOCD1	90853	broad.mit.edu	37	1	32259746	32259746	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:32259746G>A	ENST00000360482.2	-	11	2491	c.2362C>T	c.(2362-2364)Ccc>Tcc	p.P788S	SPOCD1_ENST00000257100.3_Missense_Mutation_p.P281S|RP11-84A19.3_ENST00000527035.1_RNA|SPOCD1_ENST00000533231.1_Missense_Mutation_p.P788S|SPOCD1_ENST00000373648.2_3'UTR	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	788					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TGGCAGTTGGGGTCTAAGAAG	0.637																																						ENST00000360482.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37						c.(2362-2364)Ccc>Tcc		SPOC domain containing 1							79.0	60.0	66.0					1																	32259746		2203	4300	6503	SO:0001583	missense	90853				transcription, DNA-dependent			g.chr1:32259746G>A	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 146"""					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.2362C>T	1.37:g.32259746G>A	ENSP00000353670:p.Pro788Ser					SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000533231.1_Missense_Mutation_p.P788S|SPOCD1_ENST00000257100.3_Missense_Mutation_p.P281S	p.P788S	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN		STAD - Stomach adenocarcinoma(196;0.18)	11	2491	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	788					Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	37	c.2362C>T	CCDS347.1	.	.	.	.	.	.	.	.	.	.	G	7.580	0.668481	0.14776	.	.	ENSG00000134668	ENST00000257100;ENST00000360482;ENST00000294514;ENST00000452755;ENST00000533231;ENST00000449266	T;T;T;T	0.44083	0.96;1.94;0.93;1.93	5.07	4.15	0.48705	.	.	.	.	.	T	0.25827	0.0629	N	0.22421	0.69	0.80722	D	1	B;B;B	0.18461	0.005;0.028;0.003	B;B;B	0.18263	0.017;0.021;0.018	T	0.05533	-1.0879	9	0.15952	T	0.53	-12.9145	8.9854	0.35990	0.1055:0.0:0.8945:0.0	.	788;224;788	Q6ZMY3-2;E9PPM7;Q6ZMY3	.;.;SPOC1_HUMAN	S	281;788;185;224;788;131	ENSP00000257100:P281S;ENSP00000353670:P788S;ENSP00000399778:P224S;ENSP00000435851:P788S	ENSP00000257100:P281S	P	-	1	0	SPOCD1	32032333	1.000000	0.71417	0.990000	0.47175	0.496000	0.33645	1.189000	0.32114	1.250000	0.43966	0.557000	0.71058	CCC		0.637	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569		17	36	0	0	0	1	0	17	36				
PRSS50	29122	broad.mit.edu	37	3	46757061	46757061	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr3:46757061G>A	ENST00000460241.1	-	8	2104	c.434C>T	c.(433-435)tCc>tTc	p.S145F	PRSS50_ENST00000315170.7_Missense_Mutation_p.S145F			Q9UI38	TSP50_HUMAN	protease, serine, 50	145	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CACCCACTGGGAGGCAATGAT	0.647																																					Pancreas(41;915 1239 11561 17469)	ENST00000460241.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(433-435)tCc>tTc		protease, serine, 50							68.0	52.0	57.0					3																	46757061		2202	4300	6502	SO:0001583	missense	29122				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	g.chr3:46757061G>A	AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"""Serine peptidases / Serine peptidases"""	17910	protein-coding gene	gene with protein product	"""cancer/testis antigen 20"", ""testes specific protease 50"""	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.434C>T	3.37:g.46757061G>A	ENSP00000418875:p.Ser145Phe					PRSS50_ENST00000315170.7_Missense_Mutation_p.S145F	p.S145F			Q9UI38	TSP50_HUMAN			8	2104	-			145			Peptidase S1.			Missense_Mutation	SNP	ENST00000460241.1	37	c.434C>T	CCDS2745.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264738	0.40095	.	.	ENSG00000206549	ENST00000455218;ENST00000315170;ENST00000460241	D;D	0.82433	-1.61;-1.61	4.13	2.28	0.28536	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.199434	0.25291	N	0.031732	D	0.86447	0.5935	M	0.68728	2.09	0.31162	N	0.704235	D	0.56521	0.976	P	0.59703	0.862	D	0.84781	0.0773	10	0.62326	D	0.03	.	9.3538	0.38153	0.0:0.0:0.6135:0.3865	.	145	Q9UI38	TSP50_HUMAN	F	59;145;145	ENSP00000326598:S145F;ENSP00000418875:S145F	ENSP00000326598:S145F	S	-	2	0	PRSS50	46732065	0.000000	0.05858	0.681000	0.30009	0.678000	0.39670	-0.199000	0.09491	0.653000	0.30826	0.655000	0.94253	TCC		0.647	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1			8	22	0	0	0	1	0	8	22				
BCDIN3D	144233	broad.mit.edu	37	12	50236869	50236869	+	Start_Codon_SNP	SNP	A	A	C	rs192965804		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr12:50236869A>C	ENST00000333924.4	-	1	43	c.2T>G	c.(1-3)aTg>aGg	p.M1R	BCDIN3D-AS1_ENST00000549124.1_RNA|BCDIN3D-AS1_ENST00000548872.1_RNA	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	1					miRNA metabolic process (GO:0010586)|negative regulation of pre-miRNA processing (GO:2000632)|RNA methylation (GO:0001510)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	O-methyltransferase activity (GO:0008171)|RNA methyltransferase activity (GO:0008173)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						GGGCACCGCCATTAGCCTCAA	0.662													a|||	1	0.000199681	0.0	0.0	5008	,	,		16145	0.0		0.001	False		,,,				2504	0.0					ENST00000333924.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						c.(1-3)aTg>aGg		BCDIN3 domain containing							32.0	30.0	31.0					12																	50236869		2174	4250	6424	SO:0001582	initiator_codon_variant	144233						methyltransferase activity	g.chr12:50236869A>C		CCDS8790.1	12q13.13	2008-03-12				ENSG00000186666			27050	protein-coding gene	gene with protein product							Standard	NM_181708		Approved		uc001rvh.3	Q7Z5W3	OTTHUMG00000169807	ENST00000333924.4:c.2T>G	12.37:g.50236869A>C	ENSP00000335201:p.Met1Arg						p.M1R	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN			1	43	-			1					A8K829	Translation_Start_Site	SNP	ENST00000333924.4	37	c.2T>G	CCDS8790.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	17.31	3.357904	0.61403	.	.	ENSG00000186666	ENST00000333924	T	0.48201	0.82	6.08	6.08	0.98989	.	0.325555	0.35040	N	0.003488	T	0.48786	0.1519	.	.	.	0.80722	D	1	P	0.46395	0.877	B	0.44315	0.446	T	0.53837	-0.8382	9	0.87932	D	0	.	13.043	0.58910	1.0:0.0:0.0:0.0	.	1	Q7Z5W3	BN3D2_HUMAN	R	1	ENSP00000335201:M1R	ENSP00000335201:M1R	M	-	2	0	BCDIN3D	48523136	1.000000	0.71417	0.990000	0.47175	0.040000	0.13550	6.205000	0.72148	2.333000	0.79357	0.482000	0.46254	ATG		0.662	BCDIN3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405982.1	NM_181708	Missense_Mutation	11	25	0	0	0	1	0	11	25				
FGFR2	2263	broad.mit.edu	37	10	123325040	123325040	+	Silent	SNP	G	G	A	rs55806379		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr10:123325040G>A	ENST00000358487.5	-	3	560	c.288C>T	c.(286-288)ggC>ggT	p.G96G	FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000369060.4_Silent_p.G96G|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000359354.2_Silent_p.G96G|FGFR2_ENST00000369061.4_Silent_p.G96G|FGFR2_ENST00000346997.2_Silent_p.G96G|FGFR2_ENST00000369056.1_Silent_p.G96G|FGFR2_ENST00000356226.4_Intron|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000351936.6_Silent_p.G96G|FGFR2_ENST00000457416.2_Silent_p.G96G	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	96	Ig-like C2-type 1.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	TAGGCGTGGCGCCCTTTATCT	0.522		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				G|||	1	0.000199681	0.0008	0.0	5008	,	,		17730	0.0		0.0	False		,,,				2504	0.0					ENST00000358487.5		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	"""Crouzon, Pfeiffer, and Apert syndromes"""	E			"""gastric. NSCLC, endometrial"""		0				breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181						c.(286-288)ggC>ggT		fibroblast growth factor receptor 2	Palifermin(DB00039)						182.0	154.0	164.0					10																	123325040		2203	4300	6503	SO:0001819	synonymous_variant	2263	Saethre-Chotzen syndrome;Apert syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123325040G>A	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.288C>T	10.37:g.123325040G>A						FGFR2_ENST00000457416.2_Silent_p.G96G|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369061.4_Silent_p.G96G|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000369060.4_Silent_p.G96G|FGFR2_ENST00000369056.1_Silent_p.G96G|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000359354.2_Silent_p.G96G|FGFR2_ENST00000351936.6_Silent_p.G96G|FGFR2_ENST00000346997.2_Silent_p.G96G|FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000356226.4_Intron	p.G96G	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	3	560	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	96			Ig-like C2-type 1.		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Silent	SNP	ENST00000358487.5	37	c.288C>T	CCDS31298.1																																																																																				0.522	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		5	91	0	0	0	1	0	5	91				
H2AFZ	3015	broad.mit.edu	37	4	100870896	100870896	+	Splice_Site	SNP	G	G	C			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr4:100870896G>C	ENST00000296417.5	-	2	222	c.5C>G	c.(4-6)gCt>gGt	p.A2G	H2AFZ_ENST00000529158.1_5'UTR|RP11-15B17.1_ENST00000501976.2_RNA|RP11-15B17.1_ENST00000507494.1_RNA|RP11-15B17.1_ENST00000514624.1_RNA	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	2	Required for interaction with INCENP. {ECO:0000250}.				cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular vesicular exosome (GO:0070062)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		CTTACCGCCAGCCTGCGGCGC	0.662																																						ENST00000296417.5																			0				breast(1)|endometrium(3)|lung(1)	5						c.e2-1		H2A histone family, member Z							58.0	67.0	64.0					4																	100870896		2203	4300	6503	SO:0001630	splice_region_variant	3015				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr4:100870896G>C	X52317	CCDS3654.1	4q23	2011-01-27			ENSG00000164032	ENSG00000164032		"""Histones / Replication-independent"""	4741	protein-coding gene	gene with protein product		142763		H2AZ		1697587	Standard	XM_005262971		Approved	H2A.Z	uc003hvo.1	P0C0S5	OTTHUMG00000131048	ENST00000296417.5:c.4-1C>G	4.37:g.100870896G>C						H2AFZ_ENST00000529158.1_5'UTR	p.A2_splice	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)	2	222	-			2			Required for interaction with INCENP (By similarity).		B2RD56|P17317|Q6I9U0	Splice_Site	SNP	ENST00000296417.5	37	c.3_splice	CCDS3654.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887877	0.72410	.	.	ENSG00000164032	ENST00000296417	D	0.83837	-1.77	2.51	2.51	0.30379	Histone-fold (1);	0.836455	0.10906	N	0.621121	T	0.77322	0.4113	L	0.28115	0.83	0.80722	D	1	P	0.38711	0.643	B	0.41691	0.364	T	0.76841	-0.2810	10	0.66056	D	0.02	0.789	13.3861	0.60797	0.0:0.0:1.0:0.0	.	2	P0C0S5	H2AZ_HUMAN	G	2	ENSP00000296417:A2G	ENSP00000296417:A2G	A	-	2	0	H2AFZ	101089919	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.238000	0.89809	1.419000	0.47118	0.455000	0.32223	GCT		0.662	H2AFZ-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000253695.1	NM_002106	Missense_Mutation	34	61	0	0	0	1	0	34	61				
SSPO	23145	broad.mit.edu	37	7	149512437	149512437	+	RNA	SNP	G	G	T	rs370804598		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr7:149512437G>T	ENST00000378016.2	+	0	10757							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCCACTGCCGCTGCCAGTAC	0.721																																						ENST00000378016.2																			0													SCO-spondin							7.0	11.0	10.0					7																	149512437		1952	4116	6068			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149512437G>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149512437G>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	10757	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.721	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				7	9	1	0	2.0095e-06	1	2.17897e-06	7	9				
MTMR2	8898	broad.mit.edu	37	11	95580967	95580967	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr11:95580967G>A	ENST00000346299.5	-	10	1430	c.1090C>T	c.(1090-1092)Cga>Tga	p.R364*	MTMR2_ENST00000409459.1_Nonsense_Mutation_p.R292*|MTMR2_ENST00000352297.7_Nonsense_Mutation_p.R292*|MTMR2_ENST00000393223.3_Nonsense_Mutation_p.R292*|MTMR2_ENST00000484818.1_5'Flank	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	364	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTAAGTTTTCGTAATGATTCT	0.403																																						ENST00000393223.3																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19						c.(874-876)Cga>Tga		myotubularin related protein 2							149.0	141.0	144.0					11																	95580967		2201	4298	6499	SO:0001587	stop_gained	8898					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:95580967G>A	U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.1090C>T	11.37:g.95580967G>A	ENSP00000345752:p.Arg364*					MTMR2_ENST00000409459.1_Nonsense_Mutation_p.R292*|MTMR2_ENST00000346299.5_Nonsense_Mutation_p.R364*|MTMR2_ENST00000352297.7_Nonsense_Mutation_p.R292*	p.R292*	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN			12	1536	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	364			Myotubularin phosphatase.		A6NN98|Q9UPS9	Nonsense_Mutation	SNP	ENST00000346299.5	37	c.874C>T	CCDS8305.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.863382	0.91511	.	.	ENSG00000087053	ENST00000346299;ENST00000393223;ENST00000409459;ENST00000352297;ENST00000444541	.	.	.	5.65	3.62	0.41486	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5487	0.27783	0.0845:0.0:0.6099:0.3056	.	.	.	.	X	364;292;292;292;292	.	ENSP00000345752:R364X	R	-	1	2	MTMR2	95220615	1.000000	0.71417	0.302000	0.25058	0.200000	0.23975	2.823000	0.48081	2.668000	0.90789	0.655000	0.94253	CGA		0.403	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1	NM_016156		28	56	0	0	0	1	0	28	56				
CEBPZ	10153	broad.mit.edu	37	2	37455178	37455178	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr2:37455178T>G	ENST00000234170.5	-	2	1303	c.1158A>C	c.(1156-1158)caA>caC	p.Q386H		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	386					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|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)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TATTTACCACTTGCACAAGAA	0.413																																						ENST00000234170.5																			0				breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(1156-1158)caA>caC		CCAAT/enhancer binding protein (C/EBP), zeta							105.0	110.0	108.0					2																	37455178		2203	4300	6503	SO:0001583	missense	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37455178T>G	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.1158A>C	2.37:g.37455178T>G	ENSP00000234170:p.Gln386His						p.Q386H	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN			2	1303	-		all_hematologic(82;0.21)	386					Q8NE75	Missense_Mutation	SNP	ENST00000234170.5	37	c.1158A>C	CCDS1787.1	.	.	.	.	.	.	.	.	.	.	T	2.975	-0.211657	0.06140	.	.	ENSG00000115816	ENST00000234170;ENST00000545744	T	0.12879	2.64	5.31	-1.88	0.07713	Armadillo-type fold (1);	0.120500	0.64402	D	0.000020	T	0.11452	0.0279	L	0.57536	1.79	0.39380	D	0.966243	B	0.20550	0.046	B	0.18871	0.023	T	0.07558	-1.0766	10	0.40728	T	0.16	.	7.1889	0.25814	0.0:0.4238:0.1092:0.467	.	386	Q03701	CEBPZ_HUMAN	H	386	ENSP00000234170:Q386H	ENSP00000234170:Q386H	Q	-	3	2	CEBPZ	37308682	0.654000	0.27367	0.980000	0.43619	0.685000	0.39939	-0.090000	0.11163	-0.457000	0.07033	-1.357000	0.01221	CAA		0.413	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		39	95	0	0	0	1	0	39	95				
C16orf45	89927	broad.mit.edu	37	16	15609240	15609240	+	Missense_Mutation	SNP	G	G	A	rs201932527		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr16:15609240G>A	ENST00000300006.4	+	2	544	c.185G>A	c.(184-186)cGt>cAt	p.R62H	C16orf45_ENST00000561692.1_Missense_Mutation_p.R14H|C16orf45_ENST00000566490.1_Missense_Mutation_p.R62H|C16orf45_ENST00000452191.2_Missense_Mutation_p.R45H	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	62										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						AAAATTCAGCGTCTCCGGGAA	0.522																																						ENST00000300006.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						c.(184-186)cGt>cAt		chromosome 16 open reading frame 45		G	HIS/ARG,HIS/ARG	1,4393	2.1+/-5.4	0,1,2196	125.0	107.0	113.0		134,185	5.1	1.0	16		113	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	C16orf45	NM_001142469.1,NM_033201.2	29,29	0,2,6495	AA,AG,GG		0.0116,0.0228,0.0154	probably-damaging,probably-damaging	45/188,62/205	15609240	2,12992	2197	4300	6497	SO:0001583	missense	89927							g.chr16:15609240G>A	AK057180	CCDS10561.1, CCDS45422.1	16p13.2	2012-10-09			ENSG00000166780	ENSG00000166780			19213	protein-coding gene	gene with protein product							Standard	NM_033201		Approved	FLJ32618	uc002ddo.3	Q96MC5	OTTHUMG00000129883	ENST00000300006.4:c.185G>A	16.37:g.15609240G>A	ENSP00000300006:p.Arg62His					C16orf45_ENST00000561692.1_Missense_Mutation_p.R14H|C16orf45_ENST00000452191.2_Missense_Mutation_p.R45H|C16orf45_ENST00000566490.1_Missense_Mutation_p.R62H	p.R62H	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN			2	544	+			62					O00223|O75769|Q8IZ36|Q96H25	Missense_Mutation	SNP	ENST00000300006.4	37	c.185G>A	CCDS10561.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.626716	0.87560	2.28E-4	1.16E-4	ENSG00000166780	ENST00000300006;ENST00000452191	T;T	0.47177	0.85;0.85	5.14	5.14	0.70334	Domain of unknown function DUF3585 (1);	0.000000	0.85682	D	0.000000	T	0.57989	0.2091	L	0.45422	1.42	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.49934	-0.8886	10	0.10111	T	0.7	-4.1225	16.0851	0.81042	0.0:0.0:1.0:0.0	.	6;62	B4DE25;Q96MC5	.;CP045_HUMAN	H	62;45	ENSP00000300006:R62H;ENSP00000408976:R45H	ENSP00000300006:R62H	R	+	2	0	C16orf45	15516741	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.232000	0.89796	2.356000	0.79943	0.655000	0.94253	CGT		0.522	C16orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252130.2	NM_033201		7	24	0	0	0	1	0	7	24				
PYHIN1	149628	broad.mit.edu	37	1	158943542	158943542	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:158943542C>A	ENST00000368140.1	+	8	1710	c.1465C>A	c.(1465-1467)Cca>Aca	p.P489T	PYHIN1_ENST00000368138.3_Missense_Mutation_p.P480T|PYHIN1_ENST00000392252.3_Intron|PYHIN1_ENST00000392254.2_Intron	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	489					cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					CAACCGCCATCCAGCAGTTCC	0.448																																						ENST00000368140.1																			0				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1465-1467)Cca>Aca		pyrin and HIN domain family, member 1							133.0	121.0	125.0					1																	158943542		2203	4300	6503	SO:0001583	missense	149628				cell cycle	nuclear speck		g.chr1:158943542C>A	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.1465C>A	1.37:g.158943542C>A	ENSP00000357122:p.Pro489Thr					PYHIN1_ENST00000392252.3_Intron|PYHIN1_ENST00000368138.3_Missense_Mutation_p.P480T|PYHIN1_ENST00000392254.2_Intron	p.P489T	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN			8	1710	+	all_hematologic(112;0.0378)		489					Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	c.1465C>A	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759239	0.31137	.	.	ENSG00000163564	ENST00000368140;ENST00000368138	T;T	0.06294	3.34;3.32	1.82	-0.2	0.13216	.	.	.	.	.	T	0.01489	0.0048	N	0.19112	0.55	0.09310	N	0.999998	D;P	0.53885	0.963;0.937	B;B	0.43809	0.432;0.249	T	0.44065	-0.9352	9	0.87932	D	0	.	4.0943	0.09983	0.0:0.5903:0.0:0.4097	.	480;489	Q6K0P9-2;Q6K0P9	.;IFIX_HUMAN	T	489;480	ENSP00000357122:P489T;ENSP00000357120:P480T	ENSP00000357120:P480T	P	+	1	0	PYHIN1	157210166	0.000000	0.05858	0.036000	0.18154	0.308000	0.27856	-1.821000	0.01713	-0.059000	0.13154	0.558000	0.71614	CCA		0.448	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		16	90	1	0	6.94344e-10	1	7.62085e-10	16	90				
TTN	7273	broad.mit.edu	37	2	179482528	179482528	+	Silent	SNP	G	G	A	rs113350914		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr2:179482528G>A	ENST00000591111.1	-	203	42851	c.42627C>T	c.(42625-42627)ttC>ttT	p.F14209F	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Silent_p.F6977F|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.F6910F|TTN_ENST00000460472.2_Silent_p.F6785F|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.F13282F|TTN_ENST00000589042.1_Silent_p.F15850F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000604956.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14209	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAACTTTGACGAAGGGTGTGG	0.403																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(47548-47550)ttC>ttT		titin							127.0	119.0	122.0					2																	179482528		1920	4131	6051	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179482528G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.42627C>T	2.37:g.179482528G>A						TTN_ENST00000591111.1_Silent_p.F14209F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Silent_p.F6785F|TTN_ENST00000359218.5_Silent_p.F6910F|TTN_ENST00000342992.6_Silent_p.F13282F|TTN_ENST00000342175.6_Silent_p.F6977F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.F15850F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		253	47774	-			14209			Fibronectin type-III 15.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.47550C>T																																																																																					0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		27	54	0	0	0	1	0	27	54				
WDR3	10885	broad.mit.edu	37	1	118484412	118484412	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:118484412A>G	ENST00000349139.5	+	9	978	c.931A>G	c.(931-933)Aaa>Gaa	p.K311E		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	311						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TATCCTTTCCAAAAAGGAAAT	0.323																																						ENST00000349139.4																			0				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(931-933)Aaa>Gaa		WD repeat domain 3							83.0	83.0	83.0					1																	118484412		2203	4297	6500	SO:0001583	missense	10885					nuclear membrane|nucleolus		g.chr1:118484412A>G	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.931A>G	1.37:g.118484412A>G	ENSP00000308179:p.Lys311Glu						p.K311E	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	9	978	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)	311						Missense_Mutation	SNP	ENST00000349139.5	37	c.931A>G	CCDS898.1	.	.	.	.	.	.	.	.	.	.	A	6.487	0.458121	0.12342	.	.	ENSG00000065183	ENST00000349139	T	0.81078	-1.45	5.48	3.19	0.36642	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.145674	0.64402	D	0.000009	T	0.21841	0.0526	N	0.00621	-1.32	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44636	-0.9315	10	0.02654	T	1	-5.1107	7.0821	0.25237	0.6869:0.0:0.3131:0.0	.	311	Q9UNX4	WDR3_HUMAN	E	311	ENSP00000308179:K311E	ENSP00000308179:K311E	K	+	1	0	WDR3	118285935	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	1.877000	0.39598	0.912000	0.36772	0.528000	0.53228	AAA		0.323	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784		11	26	0	0	0	1	0	11	26				
ABHD8	79575	broad.mit.edu	37	19	17412032	17412032	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr19:17412032C>T	ENST00000247706.3	-	2	633	c.394G>A	c.(394-396)Gcc>Acc	p.A132T	MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000594999.1_5'Flank	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	132							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						ctgccgGGGGCCAAGCGGCCA	0.726																																					Ovarian(156;1368 2543 15275 41187)	ENST00000247706.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						c.(394-396)Gcc>Acc		abhydrolase domain containing 8							9.0	11.0	10.0					19																	17412032		1889	3736	5625	SO:0001583	missense	79575						hydrolase activity	g.chr19:17412032C>T	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"""Abhydrolase domain containing"""	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.394G>A	19.37:g.17412032C>T	ENSP00000247706:p.Ala132Thr					MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	p.A132T	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN			2	633	-			132					Q9HAE9	Missense_Mutation	SNP	ENST00000247706.3	37	c.394G>A	CCDS12355.1	.	.	.	.	.	.	.	.	.	.	C	1.807	-0.475713	0.04414	.	.	ENSG00000127220	ENST00000247706;ENST00000544788	T	0.30448	1.53	5.33	3.02	0.34903	.	0.950455	0.08804	N	0.891310	T	0.13628	0.0330	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36866	-0.9730	10	0.13470	T	0.59	-0.1383	4.0542	0.09810	0.0:0.5617:0.1926:0.2457	.	132	Q96I13	ABHD8_HUMAN	T	132;78	ENSP00000247706:A132T	ENSP00000247706:A132T	A	-	1	0	ABHD8	17273032	0.013000	0.17824	0.000000	0.03702	0.022000	0.10575	2.586000	0.46119	0.439000	0.26476	0.561000	0.74099	GCC		0.726	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	NM_024527		13	19	0	0	0	1	0	13	19				
MMP11	4320	broad.mit.edu	37	22	24124530	24124530	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr22:24124530A>G	ENST00000215743.3	+	7	1245	c.1193A>G	c.(1192-1194)aAc>aGc	p.N398S	AP000349.1_ENST00000598975.1_Silent_p.C228C	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	398					basement membrane organization (GO:0071711)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|negative regulation of fat cell differentiation (GO:0045599)|proteolysis (GO:0006508)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)			Marimastat(DB00786)	CCCGAGAAGAACAAGATCTAC	0.647																																						ENST00000215743.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27						c.(1192-1194)aAc>aGc		matrix metallopeptidase 11 (stromelysin 3)							74.0	67.0	69.0					22																	24124530		2203	4300	6503	SO:0001583	missense	4320				collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr22:24124530A>G		CCDS13816.1	22q11.23	2008-06-11	2005-08-08		ENSG00000099953	ENSG00000099953			7157	protein-coding gene	gene with protein product		185261	"""matrix metalloproteinase 11 (stromelysin 3)"""	STMY3		1639418, 7657606, 12006591	Standard	NM_005940		Approved		uc002zxx.3	P24347	OTTHUMG00000150742	ENST00000215743.3:c.1193A>G	22.37:g.24124530A>G	ENSP00000215743:p.Asn398Ser					AP000349.1_ENST00000598975.1_Silent_p.C228C	p.N398S	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN			7	1245	+		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)	398			Hemopexin-like 3.		Q5FX24|Q6PEZ6|Q9UC26	Missense_Mutation	SNP	ENST00000215743.3	37	c.1193A>G	CCDS13816.1	.	.	.	.	.	.	.	.	.	.	A	16.54	3.152217	0.57259	.	.	ENSG00000099953	ENST00000215743	T	0.02916	4.11	4.93	4.93	0.64822	Hemopexin/matrixin (2);	0.366639	0.33938	N	0.004410	T	0.05410	0.0143	M	0.62088	1.915	0.42653	D	0.993458	B	0.22746	0.074	B	0.21917	0.037	T	0.18335	-1.0340	10	0.52906	T	0.07	.	14.2638	0.66102	1.0:0.0:0.0:0.0	.	398	P24347	MMP11_HUMAN	S	398	ENSP00000215743:N398S	ENSP00000215743:N398S	N	+	2	0	MMP11	22454530	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	3.711000	0.54868	2.228000	0.72767	0.477000	0.44152	AAC		0.647	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319891.2	NM_005940		10	42	0	0	0	1	0	10	42				
FGA	2243	broad.mit.edu	37	4	155507879	155507879	+	Silent	SNP	G	G	A			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr4:155507879G>A	ENST00000302053.3	-	5	780	c.702C>T	c.(700-702)ccC>ccT	p.P234P	FGA_ENST00000403106.3_Silent_p.P234P	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	234					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TAAAATTTCCGGGAACCAAGT	0.453																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(700-702)ccC>ccT		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						124.0	129.0	127.0					4																	155507879		2203	4300	6503	SO:0001819	synonymous_variant	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155507879G>A		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.702C>T	4.37:g.155507879G>A						FGA_ENST00000403106.3_Silent_p.P234P	p.P234P	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			5	780	-	all_hematologic(180;0.215)	Renal(120;0.0458)	234					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Silent	SNP	ENST00000302053.3	37	c.702C>T	CCDS3787.1																																																																																				0.453	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		9	74	0	0	0	1	0	9	74				
HOXC11	3227	broad.mit.edu	37	12	54369166	54369166	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr12:54369166T>C	ENST00000546378.1	+	2	1000	c.884T>C	c.(883-885)cTg>cCg	p.L295P	HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA|HOXC11_ENST00000243082.4_Silent_p.A296A			O43248	HXC11_HUMAN	homeobox C11	295					anterior/posterior pattern specification (GO:0009952)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|endoderm development (GO:0007492)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	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)			large_intestine(1)|ovary(1)	2						AGAGACCGGCTGCAGTATTTC	0.468			T	NUP98	AML																																	ENST00000546378.1				Dom	yes		12	12q13.3	3227	T	homeo box C11			L	NUP98		AML		0				large_intestine(1)|ovary(1)	2						c.(883-885)cTg>cCg		homeobox C11							32.0	38.0	36.0					12																	54369166		2200	4300	6500	SO:0001583	missense	3227				endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54369166T>C		CCDS8867.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123388	ENSG00000123388		"""Homeoboxes / ANTP class : HOXL subclass"""	5123	protein-coding gene	gene with protein product		605559	"""homeo box C11"""	HOX3H		1973146, 1358459	Standard	NM_014212		Approved		uc001sem.3	O43248	OTTHUMG00000160011	ENST00000546378.1:c.884T>C	12.37:g.54369166T>C	ENSP00000446680:p.Leu295Pro					HOXC11_ENST00000243082.4_Silent_p.A296A	p.L295P			O43248	HXC11_HUMAN			2	1000	+			295					A8K7D1|Q96DH2	Missense_Mutation	SNP	ENST00000546378.1	37	c.884T>C	CCDS8867.1	.	.	.	.	.	.	.	.	.	.	T	19.04	3.750392	0.69533	.	.	ENSG00000123388	ENST00000546378	D	0.92752	-3.1	4.68	4.68	0.58851	.	0.185627	0.36444	N	0.002584	D	0.93367	0.7885	L	0.37850	1.14	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93947	0.7228	10	0.66056	D	0.02	.	13.4315	0.61057	0.0:0.0:0.0:1.0	.	295	O43248	HXC11_HUMAN	P	295	ENSP00000446680:L295P	ENSP00000446680:L295P	L	+	2	0	HOXC11	52655433	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.925000	0.87563	1.883000	0.54544	0.454000	0.30748	CTG		0.468	HOXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358869.2			12	38	0	0	0	1	0	12	38				
KDM4B	23030	broad.mit.edu	37	19	5077467	5077467	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr19:5077467A>G	ENST00000159111.4	+	8	984	c.766A>G	c.(766-768)Atc>Gtc	p.I256V	KDM4B_ENST00000536461.1_Missense_Mutation_p.I256V|KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000381759.4_Missense_Mutation_p.I256V	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	256	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GAAGTACGGGATCCCCTTCAG	0.642																																						ENST00000159111.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(766-768)Atc>Gtc		lysine (K)-specific demethylase 4B							98.0	98.0	98.0					19																	5077467		2203	4300	6503	SO:0001583	missense	23030				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr19:5077467A>G	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.766A>G	19.37:g.5077467A>G	ENSP00000159111:p.Ile256Val					KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000536461.1_Missense_Mutation_p.I256V|KDM4B_ENST00000381759.4_Missense_Mutation_p.I256V	p.I256V	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN			8	984	+			256			JmjC.		B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	ENST00000159111.4	37	c.766A>G	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.304270	0.81136	.	.	ENSG00000127663	ENST00000159111;ENST00000381759;ENST00000536461	T;T;T	0.72835	-0.69;-0.69;-0.69	4.52	4.52	0.55395	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	T	0.63988	0.2558	N	0.25332	0.735	0.80722	D	1	B;P;B	0.42827	0.05;0.791;0.166	B;P;P	0.45971	0.188;0.499;0.474	T	0.65170	-0.6233	10	0.40728	T	0.16	-32.4144	13.8579	0.63540	1.0:0.0:0.0:0.0	.	256;256;256	F5GX28;O94953-2;O94953	.;.;KDM4B_HUMAN	V	256	ENSP00000159111:I256V;ENSP00000371178:I256V;ENSP00000440495:I256V	ENSP00000159111:I256V	I	+	1	0	KDM4B	5028467	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	9.110000	0.94302	1.679000	0.50963	0.379000	0.24179	ATC		0.642	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		4	150	0	0	0	1	0	4	150				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		5	102	0	0	0	1	0	5	102				
ZBTB24	9841	broad.mit.edu	37	6	109802616	109802616	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr6:109802616C>T	ENST00000230122.3	-	2	781	c.614G>A	c.(613-615)gGt>gAt	p.G205D		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	205					hematopoietic progenitor cell differentiation (GO:0002244)|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)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		ATTCAGTACACCACTGTCTCC	0.413																																						ENST00000230122.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22						c.(613-615)gGt>gAt		zinc finger and BTB domain containing 24							234.0	233.0	233.0					6																	109802616		2203	4300	6503	SO:0001583	missense	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109802616C>T	AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.614G>A	6.37:g.109802616C>T	ENSP00000230122:p.Gly205Asp						p.G205D	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)	2	781	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	205					Q17RC6|Q5TED5|Q8N455	Missense_Mutation	SNP	ENST00000230122.3	37	c.614G>A	CCDS34509.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.646370	0.00792	.	.	ENSG00000112365	ENST00000230122	T	0.10477	2.87	5.06	2.09	0.27110	.	0.894418	0.09845	N	0.748372	T	0.01523	0.0049	N	0.24115	0.695	0.09310	N	1	B;B	0.25904	0.137;0.049	B;B	0.25140	0.058;0.026	T	0.49133	-0.8971	10	0.11794	T	0.64	-1.1658	2.6801	0.05091	0.2973:0.4455:0.1128:0.1443	.	205;205	O43167-2;O43167	.;ZBT24_HUMAN	D	205	ENSP00000230122:G205D	ENSP00000230122:G205D	G	-	2	0	ZBTB24	109909309	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.278000	0.18753	0.207000	0.20607	0.655000	0.94253	GGT		0.413	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		56	161	0	0	0	1	0	56	161				
FLRT2	23768	broad.mit.edu	37	14	86089489	86089489	+	Missense_Mutation	SNP	C	C	T	rs567090913		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr14:86089489C>T	ENST00000330753.4	+	2	2398	c.1631C>T	c.(1630-1632)gCg>gTg	p.A544V	FLRT2_ENST00000554746.1_Missense_Mutation_p.A544V	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	544					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTTCTGCTGGCGGGCTTGATC	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		16140	0.0		0.0	False		,,,				2504	0.001					ENST00000330753.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(1630-1632)gCg>gTg		fibronectin leucine rich transmembrane protein 2							85.0	89.0	88.0					14																	86089489		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86089489C>T	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1631C>T	14.37:g.86089489C>T	ENSP00000332879:p.Ala544Val					FLRT2_ENST00000554746.1_Missense_Mutation_p.A544V	p.A544V	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	2398	+			544					A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.1631C>T	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592210	0.86953	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.62498	0.02;0.02	6.17	6.17	0.99709	.	0.051078	0.85682	D	0.000000	T	0.79064	0.4383	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.77571	-0.2538	10	0.62326	D	0.03	-19.6477	20.8794	0.99867	0.0:1.0:0.0:0.0	.	544	O43155	FLRT2_HUMAN	V	544;544;197	ENSP00000332879:A544V;ENSP00000451050:A544V	ENSP00000332879:A544V	A	+	2	0	FLRT2	85159242	1.000000	0.71417	0.977000	0.42913	0.901000	0.52897	7.817000	0.86213	2.941000	0.99782	0.655000	0.94253	GCG		0.597	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			41	89	0	0	0	1	0	41	89				
KCNV1	27012	broad.mit.edu	37	8	110984699	110984699	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr8:110984699C>T	ENST00000524391.1	-	3	1811	c.779G>A	c.(778-780)cGc>cAc	p.R260H	KCNV1_ENST00000297404.1_Missense_Mutation_p.R260H|RP11-696P8.2_ENST00000530667.1_RNA			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	260					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			ACACAGGAAGCGGAGGACAAA	0.532																																						ENST00000524391.1																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(778-780)cGc>cAc		potassium channel, subfamily V, member 1							78.0	67.0	71.0					8																	110984699		2203	4300	6503	SO:0001583	missense	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110984699C>T	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.779G>A	8.37:g.110984699C>T	ENSP00000435954:p.Arg260His					KCNV1_ENST00000297404.1_Missense_Mutation_p.R260H	p.R260H			Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		3	1811	-	all_neural(195;0.219)		260					Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	37	c.779G>A	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	C	32	5.153654	0.94645	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.98684	-5.07;-5.07	5.7	5.7	0.88788	Ion transport (1);	0.111628	0.53938	D	0.000044	D	0.99515	0.9827	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98158	1.0445	10	0.87932	D	0	.	18.8179	0.92085	0.0:1.0:0.0:0.0	.	260	Q6PIU1	KCNV1_HUMAN	H	260;260;136	ENSP00000435954:R260H;ENSP00000297404:R260H	ENSP00000297404:R260H	R	-	2	0	KCNV1	111053875	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.697000	0.92050	0.557000	0.71058	CGC		0.532	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		4	47	0	0	0	1	0	4	47				
FCGR2B	2213	broad.mit.edu	37	1	161642793	161642793	+	Silent	SNP	G	G	T	rs373559875		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:161642793G>T	ENST00000358671.5	+	4	501	c.420G>T	c.(418-420)ctG>ctT	p.L140L	FCGR2B_ENST00000367961.4_Silent_p.L133L|FCGR2B_ENST00000236937.9_Silent_p.L140L|FCGR2B_ENST00000428605.2_Silent_p.L140L|RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000367960.5_Silent_p.L133L|FCGR2B_ENST00000403078.3_Silent_p.L140L|FCGR2B_ENST00000367962.4_Silent_p.L140L	NM_001002275.2|NM_004001.4	NP_001002275.1|NP_003992.3	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	140	Ig-like C2-type 2.				immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)						all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Antithymocyte globulin(DB00098)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCCCTCACCTGGAGTTCCAGG	0.532			T	?	ALL																																	ENST00000367962.4				Dom	yes		1	1q23	2213	T	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""			L	?		ALL		0											c.(418-420)ctG>ctT		Fc fragment of IgG, low affinity IIb, receptor (CD32)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						15.0	20.0	18.0					1																	161642793		2166	4295	6461	SO:0001819	synonymous_variant	2213				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161642793G>T	BC031992	CCDS30924.1, CCDS30925.1, CCDS53414.1	1q23	2013-01-11	2005-02-02		ENSG00000072694	ENSG00000072694		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3618	protein-coding gene	gene with protein product		604590	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""	FCG2, FCGR2		2139735	Standard	NM_004001		Approved	CD32, CD32B	uc001gaz.2	P31994	OTTHUMG00000034470	ENST00000358671.5:c.420G>T	1.37:g.161642793G>T						RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000358671.5_Silent_p.L140L|FCGR2B_ENST00000236937.9_Silent_p.L140L|FCGR2B_ENST00000367961.4_Silent_p.L133L|FCGR2B_ENST00000428605.2_Silent_p.L140L|FCGR2B_ENST00000403078.3_Silent_p.L140L|FCGR2B_ENST00000367960.5_Silent_p.L133L	p.L140L			P31994	FCG2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	547	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		140			Ig-like C2-type 2.		A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1	Silent	SNP	ENST00000358671.5	37	c.420G>T	CCDS30924.1																																																																																				0.532	FCGR2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083337.4	NM_004001		4	35	1	0	3.59834e-05	1	3.7657e-05	4	35				
METTL21C	196541	broad.mit.edu	37	13	103338687	103338687	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr13:103338687A>T	ENST00000267273.6	-	4	494	c.489T>A	c.(487-489)caT>caA	p.H163Q		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	163					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						CTTCAGGCAGATGTGCTGTAC	0.418																																						ENST00000267273.6																			0				breast(1)|large_intestine(3)|lung(2)|skin(1)	7						c.(487-489)caT>caA		methyltransferase like 21C							87.0	88.0	88.0					13																	103338687		2203	4300	6503	SO:0001583	missense	196541						methyltransferase activity	g.chr13:103338687A>T		CCDS32003.1	13q33.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000139780	ENSG00000139780			33717	protein-coding gene	gene with protein product		615259	"""chromosome 13 open reading frame 39"""	C13orf39			Standard	NM_001010977		Approved	LOC196541	uc001vpj.4	Q5VZV1	OTTHUMG00000017304	ENST00000267273.6:c.489T>A	13.37:g.103338687A>T	ENSP00000267273:p.His163Gln						p.H163Q	NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN			4	494	-			163						Missense_Mutation	SNP	ENST00000267273.6	37	c.489T>A	CCDS32003.1	.	.	.	.	.	.	.	.	.	.	A	17.71	3.455898	0.63401	.	.	ENSG00000139780	ENST00000267273	T	0.42131	0.98	5.68	-2.06	0.07298	.	0.171432	0.53938	D	0.000060	T	0.41003	0.1140	L	0.46947	1.48	0.35581	D	0.806284	D	0.55172	0.97	P	0.54815	0.761	T	0.51694	-0.8673	10	0.14252	T	0.57	-6.152	11.5652	0.50800	0.4692:0.0:0.5308:0.0	.	163	Q5VZV1	MT21C_HUMAN	Q	163	ENSP00000267273:H163Q	ENSP00000267273:H163Q	H	-	3	2	METTL21C	102136688	0.547000	0.26465	0.732000	0.30844	0.721000	0.41392	0.541000	0.23207	-0.095000	0.12351	0.528000	0.53228	CAT		0.418	METTL21C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045682.2	NM_001010977		19	42	0	0	0	1	0	19	42				
TTN	7273	broad.mit.edu	37	2	179558355	179558355	+	Missense_Mutation	SNP	C	C	A	rs188251302		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr2:179558355C>A	ENST00000591111.1	-	117	30848	c.30624G>T	c.(30622-30624)agG>agT	p.R10208S	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R9281S|TTN_ENST00000589042.1_Missense_Mutation_p.R10525S|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGGTTCAACCCTTTTGGAAA	0.289													C|||	1	0.000199681	0.0	0.0	5008	,	,		17976	0.001		0.0	False		,,,				2504	0.0					ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(31573-31575)agG>agT		titin							57.0	59.0	58.0					2																	179558355		1792	4063	5855	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179558355C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.30624G>T	2.37:g.179558355C>A	ENSP00000465570:p.Arg10208Ser					TTN_ENST00000591111.1_Missense_Mutation_p.R10208S|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R9281S|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA	p.R10525S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		119	31799	-			10208			Glu-rich.|Pro-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.31575G>T		2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	16.52	3.145929	0.57044	.	.	ENSG00000155657	ENST00000342992;ENST00000414766;ENST00000473181	T	0.63417	-0.04	5.85	4.79	0.61399	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.40297	0.1111	N	0.08118	0	0.80722	D	1	B;B	0.15930	0.0;0.015	B;B	0.18561	0.0;0.022	T	0.38045	-0.9679	9	0.87932	D	0	.	7.667	0.28437	0.1671:0.7405:0.0:0.0924	.	10208;10208	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	S	9281;403;35	ENSP00000343764:R9281S	ENSP00000343764:R9281S	R	-	3	2	TTN	179266600	0.983000	0.35010	1.000000	0.80357	0.982000	0.71751	1.690000	0.37711	2.773000	0.95371	0.650000	0.86243	AGG		0.289	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	20	1	0	0.004672	1	0.00477818	3	20				
ADORA3	140	broad.mit.edu	37	1	112045902	112045902	+	Silent	SNP	G	G	A	rs368279686		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:112045902G>A	ENST00000241356.4	-	1	480	c.75C>T	c.(73-75)tgC>tgT	p.C25C	ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000486342.1_5'Flank|ADORA3_ENST00000369716.4_Silent_p.C25C	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	25					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	CCACTATGGCGCAGAGTCCAA	0.527																																						ENST00000241356.4																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12						c.(73-75)tgC>tgT		adenosine A3 receptor	Adenosine(DB00640)|Aminophylline(DB01223)	G	,,	0,4406		0,0,2203	75.0	61.0	65.0		75,,75	-9.2	0.8	1		65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron,coding-synonymous	ADORA3	NM_000677.3,NM_001081976.1,NM_020683.6	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	25/319,,25/348	112045902	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	140				activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	g.chr1:112045902G>A	BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"""GPCR / Class A : Adenosine receptors"", ""Immunoglobulin superfamily / V-set domain containing"""	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000241356.4:c.75C>T	1.37:g.112045902G>A						ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Silent_p.C25C	p.C25C	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	480	-		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)	25					A2A3P4|Q6UWU0|Q9BYZ1	Silent	SNP	ENST00000241356.4	37	c.75C>T	CCDS839.1																																																																																				0.527	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033065.1	NM_000677, NM_020683		12	30	0	0	0	1	0	12	30				
TAF1L	138474	broad.mit.edu	37	9	32632433	32632433	+	Missense_Mutation	SNP	G	G	A	rs535964605		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr9:32632433G>A	ENST00000242310.4	-	1	3234	c.3145C>T	c.(3145-3147)Cgc>Tgc	p.R1049C	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1049					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.R1049C(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GACATTGTGCGCACCACATCA	0.473													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21860	0.0		0.0	False		,,,				2504	0.0					ENST00000242310.4																			1	Substitution - Missense(1)	p.R1049C(1)	kidney(1)	breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(3145-3147)Cgc>Tgc		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							223.0	221.0	222.0					9																	32632433		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32632433G>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3145C>T	9.37:g.32632433G>A	ENSP00000418379:p.Arg1049Cys						p.R1049C	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	3234	-			1049					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.3145C>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437424	0.62955	.	.	ENSG00000122728	ENST00000242310	T	0.17054	2.3	0.479	0.479	0.16796	.	0.000000	0.85682	D	0.000000	T	0.38639	0.1048	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.23048	-1.0199	10	0.87932	D	0	.	6.6915	0.23174	2.0E-4:0.0:0.9998:0.0	.	1049	Q8IZX4	TAF1L_HUMAN	C	1049	ENSP00000418379:R1049C	ENSP00000418379:R1049C	R	-	1	0	TAF1L	32622433	1.000000	0.71417	0.998000	0.56505	0.882000	0.50991	2.905000	0.48727	0.507000	0.28148	0.195000	0.17529	CGC		0.473	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			47	151	0	0	0	1	0	47	151				
TBP	6908	broad.mit.edu	37	6	170871082	170871082	+	Silent	SNP	G	G	A	rs548097837	byFrequency	TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr6:170871082G>A	ENST00000392092.2	+	3	537	c.258G>A	c.(256-258)caG>caA	p.Q86Q	TBP_ENST00000230354.6_Silent_p.Q86Q|TBP_ENST00000540980.1_Silent_p.Q66Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	86	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q86Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.612													G|||	15	0.00299521	0.0023	0.0014	5008	,	,		13520	0.0		0.004	False		,,,				2504	0.0072					ENST00000392092.2																			2	Substitution - coding silent(2)	p.Q86Q(2)	lung(1)|central_nervous_system(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(256-258)caG>caA		TATA box binding protein							14.0	20.0	18.0					6																	170871082		1927	3773	5700	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871082G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.258G>A	6.37:g.170871082G>A						TBP_ENST00000230354.6_Silent_p.Q86Q|TBP_ENST00000540980.1_Silent_p.Q66Q	p.Q86Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	537	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	86			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.258G>A	CCDS5315.1																																																																																				0.612	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		5	46	0	0	0	1	0	5	46				
HSPG2	3339	broad.mit.edu	37	1	22155393	22155393	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:22155393delC	ENST00000374695.3	-	88	12251	c.12172delG	c.(12172-12174)gagfs	p.E4058fs	HSPG2_ENST00000486901.1_5'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	4058	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	ACGGAAGGCTCCACACCCCCC	0.687																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(12172-12174)agfs		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						35.0	36.0	35.0					1																	22155393		2183	4272	6455	SO:0001589	frameshift_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22155393delC	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.12172delG	1.37:g.22155393delC	ENSP00000363827:p.Glu4058fs					HSPG2_ENST00000486901.1_5'UTR	p.E4058fs	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	88	12251	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	4058			Laminin G-like 2.		Q16287|Q5SZI3|Q9H3V5	Frame_Shift_Del	DEL	ENST00000374695.3	37	c.12172delG	CCDS30625.1																																																																																				0.687	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		2	4						2	4	---	---	---	---
C1orf177	163747	broad.mit.edu	37	1	55273356	55273356	+	Missense_Mutation	SNP	G	G	A	rs201438425	byFrequency	TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:55273356G>A	ENST00000371273.3	+	3	365	c.350G>A	c.(349-351)cGg>cAg	p.R117Q	C1orf177_ENST00000358193.3_Missense_Mutation_p.R117Q	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	117										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						AAAGAGAAGCGGCTGAAGGTG	0.617													G|||	2	0.000399361	0.0	0.0029	5008	,	,		16928	0.0		0.0	False		,,,				2504	0.0					ENST00000358193.3																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						c.(349-351)cGg>cAg		chromosome 1 open reading frame 177							36.0	36.0	36.0					1																	55273356		2203	4300	6503	SO:0001583	missense	163747							g.chr1:55273356G>A	AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.350G>A	1.37:g.55273356G>A	ENSP00000360320:p.Arg117Gln					C1orf177_ENST00000371273.3_Missense_Mutation_p.R117Q	p.R117Q	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN			3	404	+			117					B7WPL2|Q8N7Y9	Missense_Mutation	SNP	ENST00000371273.3	37	c.350G>A	CCDS44153.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	5.322	0.244789	0.10077	.	.	ENSG00000162398	ENST00000358193;ENST00000371273	T;T	0.22336	1.96;1.96	4.67	-5.63	0.02474	.	1.788920	0.03005	N	0.148736	T	0.08044	0.0201	N	0.02916	-0.46	0.09310	N	1	B;B	0.16396	0.017;0.017	B;B	0.10450	0.005;0.005	T	0.30357	-0.9981	10	0.13853	T	0.58	.	9.0164	0.36173	0.6803:0.0:0.2123:0.1074	.	117;117	Q3ZCV2;Q3ZCV2-2	CA177_HUMAN;.	Q	117	ENSP00000350924:R117Q;ENSP00000360320:R117Q	ENSP00000350924:R117Q	R	+	2	0	C1orf177	55045944	0.000000	0.05858	0.156000	0.22583	0.692000	0.40212	-1.339000	0.02652	-1.008000	0.03404	-1.105000	0.02106	CGG		0.617	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607		4	14	0	0	0	1	0	4	14				
CTC-338M12.9	0	broad.mit.edu	37	5	180708697	180708698	+	lincRNA	INS	-	-	A	rs1815381|rs57699261		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr5:180708697_180708698insA	ENST00000412295.2	+	0	238																											ggggcggtaggcgggggctgga	0.718																																						ENST00000412295.2																			0																																																			0							g.chr5:180708697_180708698insA																													5.37:g.180708697_180708698insA														0	238	+									RNA	INS	ENST00000412295.2	37																																																																																						0.718	CTC-338M12.9-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000372940.1			6	8						6	8	---	---	---	---
LOC101928283	101928283	broad.mit.edu	37	7	124940517	124940517	+	lincRNA	DEL	G	G	-			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr7:124940517delG	ENST00000424515.2	+	0	648																											ttttttttttGCAATTTTGTA	0.264																																						ENST00000424515.2																			0																																																			0							g.chr7:124940517delG																													7.37:g.124940517delG														0	648	+									RNA	DEL	ENST00000424515.2	37																																																																																						0.264	RP11-3B12.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000347734.2			2	4						2	4	---	---	---	---
EQTN	54586	broad.mit.edu	37	9	27291028	27291030	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr9:27291028_27291030delATT	ENST00000380032.3	-	5	491_493	c.408_410delAAT	c.(406-411)acaatg>acg	p.M137del	EQTN_ENST00000484994.1_5'Flank|EQTN_ENST00000537675.1_In_Frame_Del_p.M108del	NM_020641.2	NP_065692.2	Q9NQ60	EQTN_HUMAN	equatorin, sperm acrosome associated	137					acrosomal vesicle exocytosis (GO:0060478)|endocytosis (GO:0006897)|fusion of sperm to egg plasma membrane (GO:0007342)	early endosome (GO:0005769)|inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|outer acrosomal membrane (GO:0002081)|plasma membrane (GO:0005886)											TTTAGCTAACATTGTCCAAAATG	0.335																																						ENST00000380032.3																			0											c.(406-411)acg>ac		equatorin, sperm acrosome associated																																				SO:0001651	inframe_deletion	54586							g.chr9:27291028_27291030delATT	AJ278482	CCDS35001.1, CCDS55300.1	9p21	2012-09-20	2012-09-20	2012-09-20	ENSG00000120160	ENSG00000120160			1359	protein-coding gene	gene with protein product	"""Acr formation associated factor"", ""Acrosome formation associated factor"", ""sperm acrosome associated 8"""		"""chromosome 9 open reading frame 11"", ""equatorin"""	C9orf11			Standard	NM_020641		Approved	AFAF, SPACA8, equatorin	uc003zql.3	Q9NQ60	OTTHUMG00000021033	ENST00000380032.3:c.408_410delAAT	9.37:g.27291028_27291030delATT	ENSP00000369371:p.Met137del					EQTN_ENST00000537675.1_In_Frame_Del_p.TM107del	p.TM136del	NM_020641.2	NP_065692.2					5	491_493	-								B2RPB3|B7ZMK1|Q5TCU1|Q96L22	In_Frame_Del	DEL	ENST00000380032.3	37	c.408_410delAAT	CCDS35001.1																																																																																				0.335	EQTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055499.1	NM_020641		13	22						13	22	---	---	---	---
DGKK	139189	broad.mit.edu	37	X	50165595	50165596	+	RNA	INS	-	-	ACAC	rs59226442|rs72026364		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chrX:50165595_50165596insACAC	ENST00000376025.2	-	0	816							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TTAAAAGGTAAacacacacaca	0.411																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa																																						139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50165595_50165596insACAC	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50165600_50165603dupACAC										Q5KSL6	DGKK_HUMAN			0	816	-	Ovarian(276;0.236)							B2RP91	RNA	INS	ENST00000376025.2	37																																																																																						0.411	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		3	6						3	6	---	---	---	---
