#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
NLRP7	199713	broad.mit.edu	37	19	55451248	55451248	+	Silent	SNP	C	C	T	rs534903397		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr19:55451248C>T	ENST00000590030.1	-	3	979	c.939G>A	c.(937-939)gcG>gcA	p.A313A	NLRP7_ENST00000446217.1_Silent_p.A341A|NLRP7_ENST00000592784.1_Silent_p.A313A|NLRP7_ENST00000588756.1_Silent_p.A313A|NLRP7_ENST00000448121.2_Silent_p.A313A|NLRP7_ENST00000328092.5_Silent_p.A313A|NLRP7_ENST00000340844.2_Silent_p.A313A			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	313	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCGGCTGCTGCGCCAGGAGCT	0.622																																						ENST00000588756.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(937-939)gcG>gcA		NLR family, pyrin domain containing 7							37.0	37.0	37.0					19																	55451248		2203	4300	6503	SO:0001819	synonymous_variant	199713						ATP binding	g.chr19:55451248C>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.939G>A	19.37:g.55451248C>T						NLRP7_ENST00000592784.1_Silent_p.A313A|NLRP7_ENST00000590030.1_Silent_p.A313A|NLRP7_ENST00000340844.2_Silent_p.A313A|NLRP7_ENST00000328092.5_Silent_p.A313A|NLRP7_ENST00000448121.2_Silent_p.A313A|NLRP7_ENST00000446217.1_Silent_p.A341A	p.A313A			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	6	1425	-			313			NACHT.		E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	c.939G>A	CCDS33109.1																																																																																				0.622	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		6	28	0	0	0	1	0	6	28				
LTV1	84946	broad.mit.edu	37	6	144167303	144167303	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr6:144167303C>A	ENST00000367576.5	+	3	385	c.251C>A	c.(250-252)tCa>tAa	p.S84*		NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 ribosome biogenesis factor	84						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		CTTATTCCCTCAAGTACCTTC	0.463																																						ENST00000367576.5																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13						c.(250-252)tCa>tAa		LTV1 homolog (S. cerevisiae)							94.0	85.0	88.0					6																	144167303		2203	4300	6503	SO:0001587	stop_gained	84946							g.chr6:144167303C>A	BC009855	CCDS5201.1	6q24.2	2014-02-03	2014-02-03	2006-02-06	ENSG00000135521	ENSG00000135521			21173	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 93"", ""LTV1 homolog (S. cerevisiae)"""	C6orf93			Standard	NM_032860		Approved	FLJ14909, dJ468K18.4	uc003qjs.3	Q96GA3	OTTHUMG00000015733	ENST00000367576.5:c.251C>A	6.37:g.144167303C>A	ENSP00000356548:p.Ser84*						p.S84*	NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)	3	385	+			84					Q96JX8	Nonsense_Mutation	SNP	ENST00000367576.5	37	c.251C>A	CCDS5201.1	.	.	.	.	.	.	.	.	.	.	C	36	5.932106	0.97116	.	.	ENSG00000135521	ENST00000367576	.	.	.	5.65	4.75	0.60458	.	0.459886	0.26377	N	0.024722	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9247	0.41485	0.0:0.7331:0.1862:0.0807	.	.	.	.	X	84	.	ENSP00000356548:S84X	S	+	2	0	LTV1	144208996	0.001000	0.12720	0.028000	0.17463	0.375000	0.29983	1.360000	0.34125	1.249000	0.43950	0.650000	0.86243	TCA		0.463	LTV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042532.1	NM_032860		4	32	1	0	0.150653	1	0.150653	4	32				
LRRC37A4P	55073	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr17:43587730A>C	ENST00000579913.1	-	0	1394				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GTATTGATTCATTTTATTCAT	0.343																																						ENST00000253803.2																			0																																																			0							g.chr17:43587730A>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587730A>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.343	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	51	0	0	0	1	0	3	51				
FLG2	388698	broad.mit.edu	37	1	152326021	152326021	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr1:152326021G>T	ENST00000388718.5	-	3	4313	c.4241C>A	c.(4240-4242)tCc>tAc	p.S1414Y	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1414					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTTGTCCTGGACCCTCTCTG	0.512																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(4240-4242)tCc>tAc		filaggrin family member 2							264.0	250.0	254.0					1																	152326021		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152326021G>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4241C>A	1.37:g.152326021G>T	ENSP00000373370:p.Ser1414Tyr					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.S1414Y	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4313	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1414					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.4241C>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	g	9.113	1.006980	0.19199	.	.	ENSG00000143520	ENST00000388718	T	0.08634	3.07	3.75	-0.957	0.10350	.	.	.	.	.	T	0.04952	0.0133	M	0.62723	1.935	0.09310	N	1	D	0.61697	0.99	P	0.51615	0.675	T	0.16188	-1.0411	9	0.62326	D	0.03	3.4826	2.3614	0.04308	0.1012:0.1618:0.4055:0.3315	.	1414	Q5D862	FILA2_HUMAN	Y	1414	ENSP00000373370:S1414Y	ENSP00000373370:S1414Y	S	-	2	0	FLG2	150592645	0.058000	0.20735	0.000000	0.03702	0.001000	0.01503	1.934000	0.40163	-0.461000	0.06993	-1.553000	0.00894	TCC		0.512	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		49	215	1	0	9.22156e-22	1	9.89961e-22	49	215				
SLC13A2	9058	broad.mit.edu	37	17	26816242	26816242	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr17:26816242G>A	ENST00000314669.5	+	2	533	c.113G>A	c.(112-114)tGc>tAc	p.C38Y	SLC13A2_ENST00000545060.1_Intron|SLC13A2_ENST00000444914.3_Missense_Mutation_p.C38Y|SLC13A2_ENST00000537681.1_5'UTR	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	38					dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GAGGCCTACTGCGCGTATGCC	0.602																																						ENST00000444914.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(112-114)tGc>tAc		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	Succinic acid(DB00139)						117.0	89.0	98.0					17																	26816242		2203	4300	6503	SO:0001583	missense	9058					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	g.chr17:26816242G>A	U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"""Solute carriers"""	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.113G>A	17.37:g.26816242G>A	ENSP00000316202:p.Cys38Tyr					SLC13A2_ENST00000545060.1_Intron|SLC13A2_ENST00000537681.1_5'UTR|SLC13A2_ENST00000314669.5_Missense_Mutation_p.C38Y	p.C38Y	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	2	533	+	all_lung(13;0.000871)|Lung NSC(42;0.0027)		38					B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Missense_Mutation	SNP	ENST00000314669.5	37	c.113G>A	CCDS11231.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692732	0.68271	.	.	ENSG00000007216	ENST00000314669;ENST00000444914	T;T	0.02709	4.19;4.19	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.20129	0.0484	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	T	0.00161	-1.1972	10	0.87932	D	0	.	19.9921	0.97370	0.0:0.0:1.0:0.0	.	38;38	E7ETH5;Q13183	.;S13A2_HUMAN	Y	38	ENSP00000316202:C38Y;ENSP00000392411:C38Y	ENSP00000316202:C38Y	C	+	2	0	SLC13A2	23840369	1.000000	0.71417	0.956000	0.39512	0.146000	0.21551	9.637000	0.98443	2.740000	0.93945	0.558000	0.71614	TGC		0.602	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984		12	37	0	0	0	1	0	12	37				
TRAV26-1	28657	broad.mit.edu	37	14	22592243	22592243	+	RNA	SNP	G	G	A			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr14:22592243G>A	ENST00000390455.3	+	0	537									T cell receptor alpha variable 26-1																		CGTCAGAGTCGCACACTGGGA	0.532																																						ENST00000390455.3																			0																				50.0	47.0	48.0					14																	22592243		2203	4300	6503			0							g.chr14:22592243G>A	AE000660		14q11.2	2012-02-07			ENSG00000211807	ENSG00000211807		"""T cell receptors / TRA locus"""	12123	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170654		14.37:g.22592243G>A														0	537	+									RNA	SNP	ENST00000390455.3	37																																																																																						0.532	TRAV26-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409902.1	NG_001332		7	18	0	0	0	1	0	7	18				
MAGEA10	4109	broad.mit.edu	37	X	151303923	151303923	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chrX:151303923G>A	ENST00000370323.4	-	4	486	c.170C>T	c.(169-171)tCt>tTt	p.S57F	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.S57F	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	57	Poly-Ser.					nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ggaggaggaagaggaggagga	0.562																																						ENST00000370323.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(169-171)tCt>tTt		melanoma antigen family A, 10							66.0	70.0	68.0					X																	151303923		2203	4300	6503	SO:0001583	missense	4109							g.chrX:151303923G>A		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.170C>T	X.37:g.151303923G>A	ENSP00000359347:p.Ser57Phe					MAGEA10_ENST00000244096.3_Missense_Mutation_p.S57F|RP11-1007I13.4_ENST00000509345.2_RNA	p.S57F	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN			4	486	-	Acute lymphoblastic leukemia(192;6.56e-05)		57			Poly-Ser.			Missense_Mutation	SNP	ENST00000370323.4	37	c.170C>T	CCDS14705.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.272081	0.23221	.	.	ENSG00000124260	ENST00000370323;ENST00000244096;ENST00000444834;ENST00000427322	T;T;T;T	0.06218	3.33;3.33;3.33;3.33	2.47	-0.453	0.12201	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.03178	0.0093	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.42275	-0.9461	9	0.54805	T	0.06	.	5.1475	0.14993	0.4971:0.0:0.5029:0.0	.	57	P43363	MAGAA_HUMAN	F	57	ENSP00000359347:S57F;ENSP00000244096:S57F;ENSP00000406161:S57F;ENSP00000391977:S57F	ENSP00000244096:S57F	S	-	2	0	MAGEA10	151054579	0.000000	0.05858	0.002000	0.10522	0.929000	0.56500	0.404000	0.20999	-0.224000	0.09928	0.464000	0.42555	TCT		0.562	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		18	23	0	0	0	1	0	18	23				
PRUNE2	158471	broad.mit.edu	37	9	79318298	79318298	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr9:79318298T>C	ENST00000376718.3	-	9	8354	c.8231A>G	c.(8230-8232)gAg>gGg	p.E2744G	PRUNE2_ENST00000428286.1_Missense_Mutation_p.E2385G	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2744					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GAACTCTGTCTCCTCCTCCAT	0.423																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(7153-7155)gAg>gGg		prune homolog 2 (Drosophila)							94.0	80.0	85.0					9																	79318298		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79318298T>C	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.8231A>G	9.37:g.79318298T>C	ENSP00000365908:p.Glu2744Gly					PRUNE2_ENST00000376718.3_Missense_Mutation_p.E2744G	p.E2385G			Q8WUY3	PRUN2_HUMAN			9	8354	-			2744					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.7154A>G	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.189855	0.78789	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.54071	0.59;0.6	5.6	5.6	0.85130	.	0.000000	0.56097	D	0.000038	T	0.69043	0.3067	M	0.66939	2.045	0.80722	D	1	D;D	0.76494	0.991;0.999	P;D	0.66084	0.895;0.941	T	0.72773	-0.4192	10	0.87932	D	0	-21.4939	14.3527	0.66713	0.0:0.0:0.0:1.0	.	2744;2744	Q8WUY3-3;Q8WUY3	.;PRUN2_HUMAN	G	2744;2385;2743	ENSP00000365908:E2744G;ENSP00000397425:E2385G	ENSP00000365908:E2744G	E	-	2	0	PRUNE2	78508118	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.705000	0.54823	2.136000	0.66102	0.482000	0.46254	GAG		0.423	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		3	35	0	0	0	1	0	3	35				
LAMB3	3914	broad.mit.edu	37	1	209788707	209788707	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr1:209788707C>T	ENST00000356082.4	-	23	3562	c.3428G>A	c.(3427-3429)cGc>cAc	p.R1143H	LAMB3_ENST00000367030.3_Missense_Mutation_p.R1143H|LAMB3_ENST00000391911.1_Missense_Mutation_p.R1143H	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	1143	Domain I.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GTCCGCTGAGCGCAGCATGAT	0.587																																						ENST00000391911.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(3427-3429)cGc>cAc		laminin, beta 3							111.0	91.0	98.0					1																	209788707		2203	4300	6503	SO:0001583	missense	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209788707C>T	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.3428G>A	1.37:g.209788707C>T	ENSP00000348384:p.Arg1143His					LAMB3_ENST00000356082.4_Missense_Mutation_p.R1143H|LAMB3_ENST00000367030.3_Missense_Mutation_p.R1143H	p.R1143H	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	22	3817	-			1143			Domain I.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	c.3428G>A	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890879	0.72524	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.37058	1.22;1.22;1.22	5.42	3.55	0.40652	.	0.132901	0.45126	D	0.000395	T	0.26159	0.0638	L	0.29908	0.895	0.27255	N	0.958772	D	0.58268	0.982	P	0.45276	0.475	T	0.11842	-1.0571	10	0.56958	D	0.05	.	5.8321	0.18586	0.0:0.6896:0.0:0.3104	.	1143	Q13751	LAMB3_HUMAN	H	1143	ENSP00000375778:R1143H;ENSP00000348384:R1143H;ENSP00000355997:R1143H	ENSP00000348384:R1143H	R	-	2	0	LAMB3	207855330	0.999000	0.42202	0.976000	0.42696	0.930000	0.56654	2.027000	0.41078	1.293000	0.44690	0.455000	0.32223	CGC		0.587	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		13	44	0	0	0	1	0	13	44				
EXOC4	60412	broad.mit.edu	37	7	133602453	133602453	+	Silent	SNP	G	G	A			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr7:133602453G>A	ENST00000253861.4	+	13	2018	c.1989G>A	c.(1987-1989)caG>caA	p.Q663Q	EXOC4_ENST00000539845.1_Silent_p.Q562Q|EXOC4_ENST00000545148.1_Silent_p.Q273Q|EXOC4_ENST00000460346.1_3'UTR	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	663					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AACCCAAACAGCTGAGGCCAA	0.398																																						ENST00000253861.4																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50						c.(1987-1989)caG>caA		exocyst complex component 4							104.0	93.0	97.0					7																	133602453		2203	4300	6503	SO:0001819	synonymous_variant	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133602453G>A	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.1989G>A	7.37:g.133602453G>A						EXOC4_ENST00000460346.1_3'UTR|EXOC4_ENST00000545148.1_Silent_p.Q273Q|EXOC4_ENST00000539845.1_Silent_p.Q562Q	p.Q663Q	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN			13	2018	+		Esophageal squamous(399;0.129)	663					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Silent	SNP	ENST00000253861.4	37	c.1989G>A	CCDS5829.1																																																																																				0.398	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		17	86	0	0	0	1	0	17	86				
RANBP17	64901	broad.mit.edu	37	5	170345766	170345766	+	Missense_Mutation	SNP	G	G	A	rs201397836		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr5:170345766G>A	ENST00000523189.1	+	10	1168	c.1004G>A	c.(1003-1005)cGt>cAt	p.R335H		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	335					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTTTTGGCTCGTTTAAAGACA	0.338			T	TRD@	ALL																																	ENST00000523189.1				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50						c.(1003-1005)cGt>cAt		RAN binding protein 17							137.0	135.0	135.0					5																	170345766		2202	4299	6501	SO:0001583	missense	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170345766G>A	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.1004G>A	5.37:g.170345766G>A	ENSP00000427975:p.Arg335His						p.R335H	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		10	1168	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	335					Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	c.1004G>A	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	g	26.5	4.739561	0.89573	.	.	ENSG00000204764	ENST00000523189;ENST00000545246	T	0.50277	0.75	5.74	4.87	0.63330	Armadillo-type fold (1);	0.100148	0.45126	N	0.000395	T	0.75428	0.3848	M	0.94021	3.485	0.48341	D	0.999631	D	0.89917	1.0	D	0.73708	0.981	T	0.82331	-0.0510	10	0.66056	D	0.02	-6.8733	14.1487	0.65367	0.0727:0.0:0.9273:0.0	.	335	Q9H2T7	RBP17_HUMAN	H	335;231	ENSP00000427975:R335H	ENSP00000373770:R335H	R	+	2	0	RANBP17	170278371	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.326000	0.65875	1.423000	0.47198	0.491000	0.48974	CGT		0.338	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		9	39	0	0	0	1	0	9	39				
SHROOM3	57619	broad.mit.edu	37	4	77661986	77661986	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr4:77661986G>A	ENST00000296043.6	+	5	3613	c.2660G>A	c.(2659-2661)cGt>cAt	p.R887H		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	887					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CGGCTCCTCCGTAGCCAGAGC	0.711																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(2659-2661)cGt>cAt		shroom family member 3							8.0	11.0	10.0					4																	77661986		2118	4173	6291	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77661986G>A	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.2660G>A	4.37:g.77661986G>A	ENSP00000296043:p.Arg887His						p.R887H	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	3613	+			887					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.2660G>A	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	g	26.2	4.710541	0.89112	.	.	ENSG00000138771	ENST00000296043	T	0.48522	0.81	5.43	5.43	0.79202	Apx/shroom, ASD1 (1);	1.523020	0.04137	N	0.318872	T	0.74612	0.3739	M	0.75447	2.3	0.39174	D	0.962656	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.995;0.995	T	0.59984	-0.7351	10	0.72032	D	0.01	-23.3857	17.4154	0.87498	0.0:0.0:1.0:0.0	.	711;887;665	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	H	887	ENSP00000296043:R887H	ENSP00000296043:R887H	R	+	2	0	SHROOM3	77881010	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	4.186000	0.58337	2.540000	0.85666	0.558000	0.71614	CGT		0.711	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		5	15	0	0	0	1	0	5	15				
VCX3A	51481	broad.mit.edu	37	X	6451822	6451822	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chrX:6451822A>T	ENST00000381089.3	-	3	831	c.525T>A	c.(523-525)agT>agA	p.S175R	VCX3A_ENST00000398729.1_Missense_Mutation_p.S155R	NM_016379.3	NP_057463.2	Q9NNX9	VCX3_HUMAN	variable charge, X-linked 3A	175	8 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich.				brain development (GO:0007420)	nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|lung(2)|pancreas(1)	4						CGCTCTCCTGACTCAGTGGTT	0.587																																						ENST00000381089.3																			0				NS(1)|lung(2)|pancreas(1)	4						c.(523-525)agT>agA		variable charge, X-linked 3A							261.0	234.0	243.0					X																	6451822		2203	4296	6499	SO:0001583	missense	51481				brain development	nucleolus		g.chrX:6451822A>T	AF159128	CCDS35199.1	Xp22.31	2008-02-05	2005-01-11	2005-01-12	ENSG00000169059	ENSG00000169059			18159	protein-coding gene	gene with protein product		300533	"""variable charge, X-linked 3"""	VCX3		10607842	Standard	NM_016379		Approved	VCX-8r, VCX-8R, VCX-A	uc004crs.3	Q9NNX9	OTTHUMG00000021097	ENST00000381089.3:c.525T>A	X.37:g.6451822A>T	ENSP00000370479:p.Ser175Arg					VCX3A_ENST00000398729.1_Missense_Mutation_p.S155R	p.S175R	NM_016379.3	NP_057463.2	Q9NNX9	VCX3_HUMAN			3	831	-			175			8 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich.		Q9P0H4	Missense_Mutation	SNP	ENST00000381089.3	37	c.525T>A	CCDS35199.1	.	.	.	.	.	.	.	.	.	.	A	4.809	0.150432	0.09185	.	.	ENSG00000169059	ENST00000381089;ENST00000398729	T;T	0.16897	2.31;2.31	0.595	-1.19	0.09585	.	.	.	.	.	T	0.11281	0.0275	L	0.43152	1.355	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.33803	-0.9854	9	0.33141	T	0.24	.	1.9625	0.03389	0.5003:0.0:0.2341:0.2656	.	175	Q9NNX9	VCX3_HUMAN	R	175;155	ENSP00000370479:S175R;ENSP00000381713:S155R	ENSP00000370479:S175R	S	-	3	2	VCX3A	6461822	0.001000	0.12720	0.006000	0.13384	0.029000	0.11900	-0.010000	0.12743	-1.310000	0.02312	-1.032000	0.02404	AGT		0.587	VCX3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055679.1	NM_016379		26	77	0	0	0	1	0	26	77				
PCDHA7	56141	broad.mit.edu	37	5	140215578	140215578	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr5:140215578C>T	ENST00000525929.1	+	1	1610	c.1610C>T	c.(1609-1611)gCg>gTg	p.A537V	PCDHA7_ENST00000378125.3_Missense_Mutation_p.A537V|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	537	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGTGAGCGCGCGCGATGCG	0.677																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(1609-1611)gCg>gTg									76.0	84.0	81.0					5																	140215578		2202	4297	6499	SO:0001583	missense	0							g.chr5:140215578C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1610C>T	5.37:g.140215578C>T	ENSP00000436426:p.Ala537Val					PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A537V|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron	p.A537V	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1610	+								O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.1610C>T	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343932	0.61073	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.73363	-0.74;-0.74	3.91	3.91	0.45181	Cadherin (5);Cadherin-like (1);	0.288789	0.17558	U	0.169928	D	0.85057	0.5610	M	0.82923	2.615	0.39028	D	0.959872	D;D	0.71674	0.986;0.998	D;P	0.65573	0.936;0.787	D	0.87578	0.2482	10	0.72032	D	0.01	.	11.9327	0.52855	0.0:0.9103:0.0:0.0897	.	537;537	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	V	537	ENSP00000436426:A537V;ENSP00000367365:A537V	ENSP00000367365:A537V	A	+	2	0	PCDHA7	140195762	1.000000	0.71417	1.000000	0.80357	0.406000	0.30931	4.473000	0.60196	1.877000	0.54381	0.313000	0.20887	GCG		0.677	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		38	130	0	0	0	1	0	38	130				
OR10G2	26534	broad.mit.edu	37	14	22102278	22102278	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr14:22102278G>A	ENST00000542433.1	-	1	818	c.721C>T	c.(721-723)Cgg>Tgg	p.R241W		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		GAGAAGGCCCGGCGCCTCCCA	0.552																																						ENST00000542433.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22						c.(721-723)Cgg>Tgg		olfactory receptor, family 10, subfamily G, member 2							32.0	34.0	33.0					14																	22102278		2197	4280	6477	SO:0001583	missense	26534				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22102278G>A		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"""GPCR / Class A : Olfactory receptors"""	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.721C>T	14.37:g.22102278G>A	ENSP00000445383:p.Arg241Trp						p.R241W	NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN		GBM - Glioblastoma multiforme(265;0.0142)	1	818	-	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	241					B2RPD0	Missense_Mutation	SNP	ENST00000542433.1	37	c.721C>T	CCDS32047.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.596325	0.28445	.	.	ENSG00000255582	ENST00000542433	T	0.00198	8.57	3.92	1.77	0.24775	GPCR, rhodopsin-like superfamily (1);	0.475126	0.15243	N	0.272783	T	0.00524	0.0017	M	0.86805	2.84	0.09310	N	1	D	0.76494	0.999	D	0.68192	0.956	T	0.38415	-0.9662	10	0.87932	D	0	-5.4019	8.7989	0.34896	0.0:0.0:0.4378:0.5622	.	241	Q8NGC3	O10G2_HUMAN	W	241	ENSP00000445383:R241W	ENSP00000445383:R241W	R	-	1	2	OR10G2	21172118	0.067000	0.21026	0.798000	0.32154	0.349000	0.29174	1.046000	0.30354	0.818000	0.34468	0.557000	0.71058	CGG		0.552	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1			4	32	0	0	0	1	0	4	32				
ZNRF1	84937	broad.mit.edu	37	16	75127493	75127493	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr16:75127493A>G	ENST00000335325.4	+	2	1090	c.448A>G	c.(448-450)Aag>Gag	p.K150E	ZNRF1_ENST00000320619.6_Missense_Mutation_p.K150E|ZNRF1_ENST00000567962.1_Missense_Mutation_p.K150E|ZNRF1_ENST00000566250.1_Missense_Mutation_p.K150E|ZNRF1_ENST00000564320.1_3'UTR	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN	zinc and ring finger 1, E3 ubiquitin protein ligase	150					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)|synapse (GO:0045202)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)	1						CATTTGCTCCAAGTCTGTGGC	0.483																																						ENST00000335325.4																			0				breast(1)	1						c.(448-450)Aag>Gag		zinc and ring finger 1, E3 ubiquitin protein ligase							175.0	148.0	157.0					16																	75127493		2198	4300	6498	SO:0001583	missense	84937					cell junction|endosome|lysosome|synaptic vesicle membrane	ligase activity|protein binding|zinc ion binding	g.chr16:75127493A>G	AF378524	CCDS10912.1	16q22.3	2013-01-09	2012-02-23		ENSG00000186187	ENSG00000186187		"""RING-type (C3HC4) zinc fingers"""	18452	protein-coding gene	gene with protein product		612060	"""zinc and ring finger 1"""				Standard	NM_032268		Approved	nin283, FLJ14846, DKFZp434E229	uc002fdl.1	Q8ND25	OTTHUMG00000137606	ENST00000335325.4:c.448A>G	16.37:g.75127493A>G	ENSP00000335091:p.Lys150Glu					ZNRF1_ENST00000320619.6_Missense_Mutation_p.K150E|ZNRF1_ENST00000566250.1_Missense_Mutation_p.K150E|ZNRF1_ENST00000564320.1_3'UTR|ZNRF1_ENST00000567962.1_Missense_Mutation_p.K150E	p.K150E	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN			2	1090	+			150					D3DUJ9|Q9H083	Missense_Mutation	SNP	ENST00000335325.4	37	c.448A>G	CCDS10912.1	.	.	.	.	.	.	.	.	.	.	A	33	5.199289	0.94997	.	.	ENSG00000186187	ENST00000320619;ENST00000335325	T	0.50277	0.75	5.9	5.9	0.94986	.	0.049358	0.85682	D	0.000000	T	0.68760	0.3036	M	0.70595	2.14	0.80722	D	1	B;D;B	0.89917	0.062;1.0;0.01	B;D;B	0.85130	0.031;0.997;0.014	T	0.71510	-0.4571	10	0.66056	D	0.02	-12.5331	16.3275	0.82990	1.0:0.0:0.0:0.0	.	150;150;150	B4DG67;Q8ND25-2;Q8ND25	.;.;ZNRF1_HUMAN	E	150	ENSP00000335091:K150E	ENSP00000323362:K150E	K	+	1	0	ZNRF1	73684994	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.847000	0.92166	2.266000	0.75297	0.528000	0.53228	AAG		0.483	ZNRF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269020.2			21	60	0	0	0	1	0	21	60				
DDX46	9879	broad.mit.edu	37	5	134102743	134102743	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr5:134102743G>A	ENST00000354283.4	+	3	478	c.343G>A	c.(343-345)Gag>Aag	p.E115K	DDX46_ENST00000452510.2_Missense_Mutation_p.E115K			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	115					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAAGAAAACTGAGAATAGGTA	0.468																																					Colon(13;391 453 4901 21675 24897)	ENST00000452510.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(343-345)Gag>Aag		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46							42.0	48.0	46.0					5																	134102743		2203	4300	6503	SO:0001583	missense	9879				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr5:134102743G>A		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.343G>A	5.37:g.134102743G>A	ENSP00000346236:p.Glu115Lys					DDX46_ENST00000354283.4_Missense_Mutation_p.E115K	p.E115K	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		3	501	+			115					O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	ENST00000354283.4	37	c.343G>A	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573344	0.65765	.	.	ENSG00000145833	ENST00000452510;ENST00000537371;ENST00000354283	T;T	0.39229	1.09;1.09	5.48	5.48	0.80851	.	0.111665	0.64402	D	0.000015	T	0.30572	0.0769	N	0.25647	0.755	0.80722	D	1	B	0.30482	0.281	B	0.24848	0.056	T	0.10109	-1.0644	10	0.10377	T	0.69	-13.6747	19.387	0.94560	0.0:0.0:1.0:0.0	.	115	Q7L014	DDX46_HUMAN	K	115	ENSP00000416534:E115K;ENSP00000346236:E115K	ENSP00000346236:E115K	E	+	1	0	DDX46	134130642	1.000000	0.71417	0.997000	0.53966	0.828000	0.46876	6.587000	0.74071	2.572000	0.86782	0.655000	0.94253	GAG		0.468	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829		3	35	0	0	0	1	0	3	35				
PRX	57716	broad.mit.edu	37	19	40900052	40900052	+	Missense_Mutation	SNP	C	C	T	rs139051512		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr19:40900052C>T	ENST00000324001.7	-	7	4477	c.4207G>A	c.(4207-4209)Gtc>Atc	p.V1403I	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1403					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.V1403I(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTCTCTCTGACGGGGGACTTG	0.692																																						ENST00000324001.7																			1	Substitution - Missense(1)	p.V1403I(1)	endometrium(1)	breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(4207-4209)Gtc>Atc		periaxin		C	,ILE/VAL	0,4406		0,0,2203	62.0	72.0	68.0		,4207	-1.9	0.0	19	dbSNP_134	68	3,8597	3.0+/-9.4	0,3,4297	no	utr-3,missense	PRX	NM_020956.2,NM_181882.2	,29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,benign	,1403/1462	40900052	3,13003	2203	4300	6503	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40900052C>T	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.4207G>A	19.37:g.40900052C>T	ENSP00000326018:p.Val1403Ile					PRX_ENST00000291825.7_3'UTR	p.V1403I	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	4477	-			1403					Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.4207G>A	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.834413	0.00579	0.0	3.49E-4	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01947	4.54	4.06	-1.88	0.07713	.	1.167580	0.06300	N	0.700823	T	0.01523	0.0049	N	0.14661	0.345	0.21499	N	0.999665	P	0.37176	0.586	B	0.30401	0.115	T	0.48833	-0.9000	10	0.51188	T	0.08	-1.0123	7.527	0.27660	0.0:0.5026:0.0:0.4974	.	1403	Q9BXM0	PRAX_HUMAN	I	1403;1338	ENSP00000326018:V1403I	ENSP00000326018:V1403I	V	-	1	0	PRX	45591892	0.000000	0.05858	0.023000	0.16930	0.078000	0.17371	-2.332000	0.01109	-0.182000	0.10602	-0.140000	0.14226	GTC		0.692	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		14	74	0	0	0	1	0	14	74				
PITRM1	10531	broad.mit.edu	37	10	3189439	3189439	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr10:3189439G>A	ENST00000224949.4	-	20	2273	c.2239C>T	c.(2239-2241)Cgg>Tgg	p.R747W	PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000451104.2_Missense_Mutation_p.R649W|PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000380994.1_Missense_Mutation_p.R305W|PITRM1-AS1_ENST00000441377.1_RNA|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380989.2_Missense_Mutation_p.R748W			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	747					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						TTCATCAGCCGCACCTAAGCC	0.498																																						ENST00000380989.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						c.(2242-2244)Cgg>Tgg		pitrilysin metallopeptidase 1							100.0	100.0	100.0					10																	3189439		1982	4174	6156	SO:0001583	missense	10531				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr10:3189439G>A	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.2239C>T	10.37:g.3189439G>A	ENSP00000224949:p.Arg747Trp					PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380994.1_Missense_Mutation_p.R305W|PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000451104.2_Missense_Mutation_p.R649W|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000224949.4_Missense_Mutation_p.R747W	p.R748W	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN			20	2280	-			649					B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	37	c.2242C>T	CCDS59208.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	14.97|14.97	2.694651|2.694651	0.48202|0.48202	.|.	.|.	ENSG00000107959|ENSG00000107959	ENST00000451454|ENST00000224949;ENST00000380980;ENST00000380989;ENST00000380994;ENST00000451104	.|T;T;T;T	.|0.24350	.|1.86;1.86;1.86;1.86	5.82|5.82	3.47|3.47	0.39725|0.39725	.|Peptidase M16C associated (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	.|0.234553	.|0.49916	.|D	.|0.000129	T|T	0.38026|0.38026	0.1025|0.1025	L|L	0.47190|0.47190	1.495|1.495	0.31014|0.31014	N|N	0.718868|0.718868	.|B;D;D;D;D	.|0.67145	.|0.439;0.996;0.992;0.992;0.992	.|B;P;P;P;P	.|0.58970	.|0.094;0.849;0.773;0.773;0.849	T|T	0.43940|0.43940	-0.9360|-0.9360	5|10	.|0.72032	.|D	.|0.01	-18.8424|-18.8424	12.8422|12.8422	0.57809|0.57809	0.0:0.0:0.2691:0.7309|0.0:0.0:0.2691:0.7309	.|.	.|740;649;748;747;740	.|E9PDX6;E7ES23;C9JSL2;Q5JRX3;B4DH07	.|.;.;.;PREP_HUMAN;.	V|W	80|747;740;748;305;649	.|ENSP00000224949:R747W;ENSP00000370377:R748W;ENSP00000370382:R305W;ENSP00000401201:R649W	.|ENSP00000224949:R747W	A|R	-|-	2|1	0|2	PITRM1|PITRM1	3179439|3179439	1.000000|1.000000	0.71417|0.71417	0.600000|0.600000	0.28864|0.28864	0.024000|0.024000	0.10985|0.10985	2.906000|2.906000	0.48735|0.48735	0.461000|0.461000	0.27071|0.27071	-0.397000|-0.397000	0.06425|0.06425	GCG|CGG		0.498	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			3	40	0	0	0	1	0	3	40				
G6PC	2538	broad.mit.edu	37	17	41063169	41063169	+	Missense_Mutation	SNP	C	C	T	rs145296477	byFrequency	TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr17:41063169C>T	ENST00000253801.2	+	5	879	c.800C>T	c.(799-801)aCg>aTg	p.T267M	G6PC_ENST00000585489.1_3'UTR|G6PC_ENST00000592383.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	267					carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AACCTGGGCACGCTCTTTGGC	0.582																																						ENST00000253801.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23						c.(799-801)aCg>aTg		glucose-6-phosphatase, catalytic subunit		C	MET/THR	0,4406		0,0,2203	83.0	74.0	77.0		800	5.0	1.0	17	dbSNP_134	77	2,8598	2.2+/-6.3	0,2,4298	no	missense	G6PC	NM_000151.2	81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	267/358	41063169	2,13004	2203	4300	6503	SO:0001583	missense	2538				gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding	g.chr17:41063169C>T	U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"""glycogen storage disease type I, von Gierke disease"""	613742	"""glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"""	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.800C>T	17.37:g.41063169C>T	ENSP00000253801:p.Thr267Met					G6PC_ENST00000585489.1_3'UTR|G6PC_ENST00000592383.1_3'UTR	p.T267M	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	5	879	+		Breast(137;0.000143)	267					A1L4C0|B4E1C3|K7EL82	Missense_Mutation	SNP	ENST00000253801.2	37	c.800C>T	CCDS11446.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.034960	0.54896	0.0	2.33E-4	ENSG00000131482	ENST00000253801	T	0.77489	-1.1	4.96	4.96	0.65561	.	0.053193	0.64402	D	0.000001	T	0.70902	0.3277	L	0.58810	1.83	0.80722	D	1	D	0.60160	0.987	B	0.42692	0.395	T	0.73613	-0.3927	10	0.56958	D	0.05	.	5.9023	0.18974	0.0:0.7749:0.0:0.2251	.	267	P35575	G6PC_HUMAN	M	267	ENSP00000253801:T267M	ENSP00000253801:T267M	T	+	2	0	G6PC	38316695	0.983000	0.35010	0.971000	0.41717	0.623000	0.37688	4.278000	0.58946	2.569000	0.86673	0.557000	0.71058	ACG		0.582	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452451.1	NM_000151		6	34	0	0	0	1	0	6	34				
EPHA8	2046	broad.mit.edu	37	1	22923871	22923871	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr1:22923871C>T	ENST00000166244.3	+	10	1904	c.1832C>T	c.(1831-1833)gCg>gTg	p.A611V		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	611	Mediates interaction with PIK3CG and required for endocytosis. {ECO:0000250}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CAGTTCTATGCGGAACCCCAC	0.652																																						ENST00000166244.3																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(1831-1833)gCg>gTg		EPH receptor A8							56.0	69.0	65.0					1																	22923871		2203	4300	6503	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22923871C>T	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.1832C>T	1.37:g.22923871C>T	ENSP00000166244:p.Ala611Val						p.A611V	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	10	1904	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	611					Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.1832C>T	CCDS225.1	.	.	.	.	.	.	.	.	.	.	C	5.053	0.195401	0.09599	.	.	ENSG00000070886	ENST00000166244	T	0.05025	3.51	4.63	4.63	0.57726	Protein kinase-like domain (1);	0.318308	0.29861	N	0.011014	T	0.02047	0.0064	N	0.01267	-0.92	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.51601	-0.8685	10	0.19590	T	0.45	.	6.89	0.24224	0.0:0.8133:0.0:0.1867	.	611	P29322	EPHA8_HUMAN	V	611	ENSP00000166244:A611V	ENSP00000166244:A611V	A	+	2	0	EPHA8	22796458	1.000000	0.71417	0.349000	0.25694	0.035000	0.12851	5.991000	0.70602	2.412000	0.81896	0.491000	0.48974	GCG		0.652	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		21	120	0	0	0	1	0	21	120				
KIAA1549	57670	broad.mit.edu	37	7	138603696	138603696	+	Missense_Mutation	SNP	C	C	T	rs202110418	byFrequency	TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr7:138603696C>T	ENST00000422774.1	-	2	724	c.676G>A	c.(676-678)Gcc>Acc	p.A226T	KIAA1549_ENST00000440172.1_Missense_Mutation_p.A226T|KIAA1549_ENST00000242365.4_Missense_Mutation_p.A176T			Q9HCM3	K1549_HUMAN	KIAA1549	226						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AAATGACTGGCGGACTCAGCA	0.498			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(676-678)Gcc>Acc		KIAA1549							134.0	146.0	142.0					7																	138603696		2118	4218	6336	SO:0001583	missense	57670					integral to membrane		g.chr7:138603696C>T		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.676G>A	7.37:g.138603696C>T	ENSP00000416040:p.Ala226Thr					KIAA1549_ENST00000422774.1_Missense_Mutation_p.A226T|KIAA1549_ENST00000242365.4_Missense_Mutation_p.A176T	p.A226T	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			2	724	-			226					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.676G>A	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	0.432	-0.902798	0.02453	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.33438	1.41;1.41;1.41	4.68	-3.0	0.05480	.	1.697110	0.03159	N	0.169103	T	0.11067	0.0270	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.12016	-1.0564	10	0.12430	T	0.62	.	2.2517	0.04045	0.3173:0.3638:0.209:0.11	.	226;226	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	T	226;176;226	ENSP00000406661:A226T;ENSP00000242365:A176T;ENSP00000416040:A226T	ENSP00000242365:A176T	A	-	1	0	KIAA1549	138254236	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.203000	0.03019	-0.565000	0.06061	-1.109000	0.02080	GCC		0.498	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			15	119	0	0	0	1	0	15	119				
LRP1	4035	broad.mit.edu	37	12	57556127	57556127	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr12:57556127C>T	ENST00000243077.3	+	14	2696	c.2230C>T	c.(2230-2232)Cac>Tac	p.H744Y		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	744					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGAGCTGAACCACGCCTTTGG	0.527																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(2230-2232)Cac>Tac		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						222.0	182.0	196.0					12																	57556127		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57556127C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.2230C>T	12.37:g.57556127C>T	ENSP00000243077:p.His744Tyr						p.H744Y	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	14	2696	+			744					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.2230C>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093071	0.56075	.	.	ENSG00000123384	ENST00000243077	D	0.91068	-2.78	4.63	3.73	0.42828	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.92766	0.7700	L	0.56769	1.78	0.80722	D	1	D	0.57899	0.981	D	0.65140	0.932	D	0.92044	0.5643	10	0.46703	T	0.11	.	11.6169	0.51094	0.0:0.9118:0.0:0.0882	.	744	Q07954	LRP1_HUMAN	Y	744	ENSP00000243077:H744Y	ENSP00000243077:H744Y	H	+	1	0	LRP1	55842394	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.453000	0.80700	1.309000	0.44985	0.462000	0.41574	CAC		0.527	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		26	100	0	0	0	1	0	26	100				
OSBPL9	114883	broad.mit.edu	37	1	52252272	52252272	+	Silent	SNP	C	C	T			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr1:52252272C>T	ENST00000428468.1	+	22	1985	c.1983C>T	c.(1981-1983)aaC>aaT	p.N661N	OSBPL9_ENST00000531828.1_Silent_p.N496N|OSBPL9_ENST00000447887.1_Silent_p.N671N|OSBPL9_ENST00000530544.1_Silent_p.N580N|OSBPL9_ENST00000371710.3_Silent_p.N679N|NRD1_ENST00000485608.1_5'Flank|OSBPL9_ENST00000337809.4_Silent_p.N666N|OSBPL9_ENST00000371714.1_Silent_p.N648N|OSBPL9_ENST00000486942.1_Silent_p.N483N|OSBPL9_ENST00000435686.2_Silent_p.N496N|OSBPL9_ENST00000453295.1_Silent_p.N644N|OSBPL9_ENST00000462759.1_Silent_p.N483N|OSBPL9_ENST00000361556.5_Silent_p.N551N			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	661					lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						AAGATCAGAACGAGTATGAAT	0.438																																						ENST00000371710.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						c.(2035-2037)aaC>aaT		oxysterol binding protein-like 9							98.0	90.0	93.0					1																	52252272		2203	4300	6503	SO:0001819	synonymous_variant	114883				lipid transport		lipid binding	g.chr1:52252272C>T	AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.1983C>T	1.37:g.52252272C>T						OSBPL9_ENST00000453295.1_Silent_p.N644N|OSBPL9_ENST00000447887.1_Silent_p.N671N|OSBPL9_ENST00000435686.2_Silent_p.N496N|OSBPL9_ENST00000428468.1_Silent_p.N661N|OSBPL9_ENST00000361556.5_Silent_p.N551N|OSBPL9_ENST00000371714.1_Silent_p.N648N|OSBPL9_ENST00000337809.4_Silent_p.N666N|OSBPL9_ENST00000486942.1_Silent_p.N483N|OSBPL9_ENST00000531828.1_Silent_p.N496N|OSBPL9_ENST00000462759.1_Silent_p.N483N|OSBPL9_ENST00000530544.1_Silent_p.N580N	p.N679N	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN			22	2219	+			661					B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Silent	SNP	ENST00000428468.1	37	c.2037C>T	CCDS41332.3																																																																																				0.438	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4			9	34	0	0	0	1	0	9	34				
SPATC1	375686	broad.mit.edu	37	8	145094826	145094826	+	Silent	SNP	G	G	A	rs377548022		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr8:145094826G>A	ENST00000377470.3	+	2	330	c.228G>A	c.(226-228)ccG>ccA	p.P76P	SPATC1_ENST00000447830.2_Silent_p.P76P	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	76	Necessary for targeting centrosomes. {ECO:0000250}.					centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCTGCCCCCGTCCCCAGCAG	0.632																																						ENST00000377470.3																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(226-228)ccG>ccA		spermatogenesis and centriole associated 1		G	,	0,4406		0,0,2203	69.0	75.0	73.0		228,228	-4.9	0.0	8		73	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SPATC1	NM_001134374.1,NM_198572.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	76/442,76/592	145094826	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	375686							g.chr8:145094826G>A	BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.228G>A	8.37:g.145094826G>A						SPATC1_ENST00000447830.2_Silent_p.P76P	p.P76P	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	330	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		76			Necessary for targeting centrosomes (By similarity).		B4DWW9|Q5U5I8|Q7Z6L7	Silent	SNP	ENST00000377470.3	37	c.228G>A	CCDS6413.2																																																																																				0.632	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1	NM_198572		21	73	0	0	0	1	0	21	73				
NEU2	4759	broad.mit.edu	37	2	233899438	233899438	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr2:233899438T>G	ENST00000233840.3	+	2	814	c.814T>G	c.(814-816)Tgc>Ggc	p.C272G		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	272					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	GCCCCAGGGCTGCCAGGGGAG	0.682																																						ENST00000233840.3																			0				endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18						c.(814-816)Tgc>Ggc		sialidase 2 (cytosolic sialidase)							16.0	19.0	18.0					2																	233899438		2201	4292	6493	SO:0001583	missense	4759						exo-alpha-sialidase activity	g.chr2:233899438T>G	Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"""N-acetyl-alpha-neuraminidase 2"""	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.814T>G	2.37:g.233899438T>G	ENSP00000233840:p.Cys272Gly						p.C272G	NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	2	814	+		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)	272					Q3KNW4|Q6NTB4	Missense_Mutation	SNP	ENST00000233840.3	37	c.814T>G	CCDS2501.1	.	.	.	.	.	.	.	.	.	.	T	15.68	2.906039	0.52333	.	.	ENSG00000115488	ENST00000233840	D	0.85861	-2.04	4.91	4.91	0.64330	Neuraminidase (2);	0.000000	0.64402	D	0.000002	D	0.93054	0.7789	M	0.89095	3.005	0.58432	D	0.99999	D	0.89917	1.0	D	0.91635	0.999	D	0.94251	0.7493	10	0.87932	D	0	-34.0168	13.7497	0.62899	0.0:0.0:0.0:1.0	.	272	Q9Y3R4	NEUR2_HUMAN	G	272	ENSP00000233840:C272G	ENSP00000233840:C272G	C	+	1	0	NEU2	233607682	1.000000	0.71417	1.000000	0.80357	0.061000	0.15899	7.783000	0.85696	1.830000	0.53286	0.533000	0.62120	TGC		0.682	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2	NM_005383		6	18	0	0	0	1	0	6	18				
NTN4	59277	broad.mit.edu	37	12	96180767	96180767	+	Missense_Mutation	SNP	C	C	T	rs142996736		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr12:96180767C>T	ENST00000343702.4	-	2	983	c.535G>A	c.(535-537)Gct>Act	p.A179T	NTN4_ENST00000553059.1_Missense_Mutation_p.A179T|NTN4_ENST00000538383.1_Missense_Mutation_p.A142T|NTN4_ENST00000344911.4_Missense_Mutation_p.A142T	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	179	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GTACAAATAGCGCCCTTCTTG	0.438																																						ENST00000343702.4																			0				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(535-537)Gct>Act		netrin 4							101.0	95.0	97.0					12																	96180767		2203	4300	6503	SO:0001583	missense	59277				axon guidance	basement membrane|plasma membrane		g.chr12:96180767C>T	AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"""Netrins"""	13658	protein-coding gene	gene with protein product	"""beta-netrin"", ""Netrin-4"""	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.535G>A	12.37:g.96180767C>T	ENSP00000340998:p.Ala179Thr					NTN4_ENST00000538383.1_Missense_Mutation_p.A142T|NTN4_ENST00000553059.1_Missense_Mutation_p.A179T|NTN4_ENST00000344911.4_Missense_Mutation_p.A142T	p.A179T	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN			2	983	-			179			Laminin N-terminal.		B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Missense_Mutation	SNP	ENST00000343702.4	37	c.535G>A	CCDS9054.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.628102	0.66901	.	.	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383;ENST00000553059;ENST00000547980	T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03	5.84	4.93	0.64822	Laminin, N-terminal (3);	0.185246	0.47093	D	0.000255	D	0.82273	0.5001	L	0.60067	1.865	0.45342	D	0.998337	D;D	0.56968	0.965;0.978	B;P	0.54238	0.441;0.746	T	0.83031	-0.0162	10	0.52906	T	0.07	.	16.4073	0.83684	0.1319:0.8681:0.0:0.0	.	179;179	Q9HB63-2;Q9HB63	.;NET4_HUMAN	T	179;142;142;179;142	ENSP00000340998:A179T;ENSP00000339436:A142T;ENSP00000444432:A142T;ENSP00000447292:A179T;ENSP00000447594:A142T	ENSP00000340998:A179T	A	-	1	0	NTN4	94704898	1.000000	0.71417	0.995000	0.50966	0.545000	0.35147	2.758000	0.47565	2.767000	0.95098	0.555000	0.69702	GCT		0.438	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408372.1	NM_021229		12	66	0	0	0	1	0	12	66				
MAGEE1	57692	broad.mit.edu	37	X	75649650	75649650	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chrX:75649650G>A	ENST00000361470.2	+	1	1605	c.1327G>A	c.(1327-1329)Gtg>Atg	p.V443M		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	443						dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CAAGGCCTCCGTGGACTCAGA	0.537																																						ENST00000361470.2																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						c.(1327-1329)Gtg>Atg		melanoma antigen family E, 1							39.0	33.0	35.0					X																	75649650		2203	4300	6503	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75649650G>A	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.1327G>A	X.37:g.75649650G>A	ENSP00000354912:p.Val443Met						p.V443M	NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN			1	1605	+			443					Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.1327G>A	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	G	8.861	0.946973	0.18356	.	.	ENSG00000198934	ENST00000361470	T	0.03124	4.04	2.14	-0.194	0.13240	.	.	.	.	.	T	0.01320	0.0043	N	0.08118	0	0.09310	N	1	P	0.39717	0.684	B	0.17433	0.018	T	0.47433	-0.9118	9	0.36615	T	0.2	.	3.1924	0.06621	0.1567:0.0:0.3928:0.4505	.	443	Q9HCI5	MAGE1_HUMAN	M	443	ENSP00000354912:V443M	ENSP00000354912:V443M	V	+	1	0	MAGEE1	75566054	0.000000	0.05858	0.001000	0.08648	0.036000	0.12997	-0.153000	0.10144	-0.400000	0.07656	0.538000	0.68166	GTG		0.537	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		8	8	0	0	0	1	0	8	8				
GHITM	27069	broad.mit.edu	37	10	85903820	85903820	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr10:85903820G>T	ENST00000372134.3	+	4	492	c.299G>T	c.(298-300)gGc>gTc	p.G100V		NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	100					apoptotic process (GO:0006915)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						TGCTACTATGGCTTGGGACTG	0.413																																						ENST00000372134.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						c.(298-300)gGc>gTc		growth hormone inducible transmembrane protein							245.0	248.0	247.0					10																	85903820		1999	4158	6157	SO:0001583	missense	27069				apoptosis	integral to membrane|mitochondrial inner membrane		g.chr10:85903820G>T	AB009685	CCDS41542.1	10q23.1	2008-02-01			ENSG00000165678	ENSG00000165678			17281	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 5"""					8619474, 9110174	Standard	NM_014394		Approved	HSPC282, PTD010, DERP2, My021, TMBIM5	uc001kcs.1	Q9H3K2	OTTHUMG00000018637	ENST00000372134.3:c.299G>T	10.37:g.85903820G>T	ENSP00000361207:p.Gly100Val						p.G100V	NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN			4	492	+			100					A8K9Z9|D3DWE0|O95894|Q5VT95|Q9H0P2	Missense_Mutation	SNP	ENST00000372134.3	37	c.299G>T	CCDS41542.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423270	0.83559	.	.	ENSG00000165678	ENST00000372134;ENST00000538477;ENST00000436406	.	.	.	6.16	5.26	0.73747	.	0.137926	0.64402	D	0.000003	T	0.80433	0.4622	M	0.88105	2.93	0.80722	D	1	D	0.76494	0.999	P	0.61940	0.896	D	0.84747	0.0754	9	0.87932	D	0	-18.1079	14.5111	0.67787	0.0709:0.0:0.9291:0.0	.	100	Q9H3K2	GHITM_HUMAN	V	100;87;100	.	ENSP00000361207:G100V	G	+	2	0	GHITM	85893800	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.306000	0.96204	1.623000	0.50342	0.650000	0.86243	GGC		0.413	GHITM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049125.1	NM_014394		17	62	1	0	3.99206e-14	1	4.22348e-14	17	62				
KRT27	342574	broad.mit.edu	37	17	38933308	38933308	+	Silent	SNP	A	A	C	rs560769064		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr17:38933308A>C	ENST00000301656.3	-	8	1363	c.1323T>G	c.(1321-1323)acT>acG	p.T441T	KRT27_ENST00000540723.1_5'UTR	NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				TCTCTTCCACAGTGTGAACTC	0.413																																						ENST00000301656.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21						c.(1321-1323)acT>acG		keratin 27							117.0	120.0	119.0					17																	38933308		2203	4300	6503	SO:0001819	synonymous_variant	342574					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38933308A>C	AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30841	protein-coding gene	gene with protein product			"""keratin 25C"""	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.1323T>G	17.37:g.38933308A>C						KRT27_ENST00000540723.1_5'UTR	p.T441T	NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN			8	1363	-		Breast(137;0.000812)	441			Tail.			Silent	SNP	ENST00000301656.3	37	c.1323T>G	CCDS11375.1																																																																																				0.413	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		21	61	0	0	0	1	0	21	61				
MC5R	4161	broad.mit.edu	37	18	13826283	13826283	+	Silent	SNP	C	C	T			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr18:13826283C>T	ENST00000324750.3	+	1	741	c.519C>T	c.(517-519)tgC>tgT	p.C173C	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	173					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						GCACGGGCTGCGGCATTGTCT	0.567																																						ENST00000324750.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						c.(517-519)tgC>tgT		melanocortin 5 receptor							375.0	329.0	344.0					18																	13826283		2203	4300	6503	SO:0001819	synonymous_variant	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826283C>T	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.519C>T	18.37:g.13826283C>T							p.C173C	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN			1	741	+			173					B0YJ34|Q502V1	Silent	SNP	ENST00000324750.3	37	c.519C>T	CCDS11868.1																																																																																				0.567	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		102	373	0	0	0	1	0	102	373				
ZPLD1	131368	broad.mit.edu	37	3	102187849	102187849	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr3:102187849G>A	ENST00000491959.1	+	15	1685	c.803G>A	c.(802-804)cGa>cAa	p.R268Q	ZPLD1_ENST00000306176.1_Missense_Mutation_p.R284Q|ZPLD1_ENST00000466937.1_Missense_Mutation_p.R268Q			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	268	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						GAGAATGGCCGAAGCCAGCGG	0.478																																						ENST00000306176.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						c.(850-852)cGa>cAa		zona pellucida-like domain containing 1							73.0	73.0	73.0					3																	102187849		2203	4300	6503	SO:0001583	missense	131368					integral to membrane		g.chr3:102187849G>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.803G>A	3.37:g.102187849G>A	ENSP00000420265:p.Arg268Gln					ZPLD1_ENST00000491959.1_Missense_Mutation_p.R268Q|ZPLD1_ENST00000466937.1_Missense_Mutation_p.R268Q	p.R284Q	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN			8	951	+			268			ZP.		Q49AS1|Q8WU36	Missense_Mutation	SNP	ENST00000491959.1	37	c.851G>A		.	.	.	.	.	.	.	.	.	.	G	13.74	2.328121	0.41197	.	.	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	D;D;D	0.81499	-1.5;-1.5;-1.5	5.46	3.4	0.38934	Zona pellucida sperm-binding protein (3);	0.085474	0.85682	D	0.000000	T	0.49813	0.1579	N	0.03608	-0.345	0.35690	D	0.8148	B;B	0.31680	0.335;0.044	B;B	0.24394	0.024;0.053	T	0.51631	-0.8681	10	0.13853	T	0.58	-0.9162	4.1468	0.10220	0.4932:0.0:0.5067:0.0	.	284;268	Q8TCW7-2;Q8TCW7	.;ZPLD1_HUMAN	Q	268;284;268	ENSP00000420265:R268Q;ENSP00000307801:R284Q;ENSP00000418253:R268Q	ENSP00000307801:R284Q	R	+	2	0	ZPLD1	103670539	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.338000	0.59316	1.299000	0.44798	0.455000	0.32223	CGA		0.478	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056		8	46	0	0	0	1	0	8	46				
AHRR	57491	broad.mit.edu	37	5	413482	413482	+	Silent	SNP	C	C	T			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr5:413482C>T	ENST00000505113.1	+	5	431	c.387C>T	c.(385-387)gtC>gtT	p.V129V	AHRR_ENST00000512529.1_5'UTR|AHRR_ENST00000316418.5_Silent_p.V129V	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	129	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			TTGCTCTGGTCGTGAGTGCAG	0.398																																						ENST00000316418.5																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(385-387)gtC>gtT		aryl-hydrocarbon receptor repressor							141.0	124.0	129.0					5																	413482		1880	4105	5985	SO:0001819	synonymous_variant	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:413482C>T	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.387C>T	5.37:g.413482C>T						AHRR_ENST00000512529.1_5'UTR|AHRR_ENST00000505113.1_Silent_p.V129V	p.V129V	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		5	431	+			129			PAS.		A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Silent	SNP	ENST00000505113.1	37	c.387C>T	CCDS56355.1																																																																																				0.398	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		21	76	0	0	0	1	0	21	76				
MUC17	140453	broad.mit.edu	37	7	100681032	100681032	+	Missense_Mutation	SNP	C	C	T	rs138732859		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr7:100681032C>T	ENST00000306151.4	+	3	6399	c.6335C>T	c.(6334-6336)aCg>aTg	p.T2112M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2112	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTCAGCACCACGCCGGTGGCC	0.498																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(6334-6336)aCg>aTg		mucin 17, cell surface associated							208.0	211.0	210.0					7																	100681032		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681032C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6335C>T	7.37:g.100681032C>T	ENSP00000302716:p.Thr2112Met						p.T2112M	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	6399	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2112			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.6335C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.225	-1.025193	0.02061	.	.	ENSG00000169876	ENST00000306151	T	0.02525	4.26	0.942	-1.88	0.07713	.	.	.	.	.	T	0.02304	0.0071	L	0.29908	0.895	0.09310	N	1	B	0.24768	0.111	B	0.04013	0.001	T	0.39542	-0.9609	9	0.48119	T	0.1	.	7.4261	0.27100	0.0:0.7893:0.0:0.2107	.	2112	Q685J3	MUC17_HUMAN	M	2112	ENSP00000302716:T2112M	ENSP00000302716:T2112M	T	+	2	0	MUC17	100467752	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-3.659000	0.00401	-1.174000	0.02754	-2.053000	0.00404	ACG		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		46	298	0	0	0	1	0	46	298				
SIAH3	283514	broad.mit.edu	37	13	46357873	46357873	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr13:46357873G>A	ENST00000400405.2	-	2	561	c.455C>T	c.(454-456)gCg>gTg	p.A152V		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	152					multicellular organismal development (GO:0007275)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						ATCAGCCGGCGCGGGGAGGTG	0.617																																						ENST00000400405.2																			0				large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						c.(454-456)gCg>gTg		siah E3 ubiquitin protein ligase family member 3							48.0	55.0	52.0					13																	46357873		2082	4210	6292	SO:0001583	missense	283514				multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding	g.chr13:46357873G>A		CCDS41883.1	13q14.12	2012-02-23	2012-02-23		ENSG00000215475	ENSG00000215475			30553	protein-coding gene	gene with protein product		615609	"""seven in absentia homolog 3 (Drosophila)"""			12477932	Standard	NM_198849		Approved	FLJ39203	uc001vap.3	Q8IW03	OTTHUMG00000016862	ENST00000400405.2:c.455C>T	13.37:g.46357873G>A	ENSP00000383256:p.Ala152Val						p.A152V	NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN			2	561	-			152					B7ZBP0|Q8N8M6	Missense_Mutation	SNP	ENST00000400405.2	37	c.455C>T	CCDS41883.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366626	0.82463	.	.	ENSG00000215475	ENST00000400405	T	0.25085	1.82	5.19	5.19	0.71726	TRAF-type (1);Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.294360	0.30949	U	0.008548	T	0.43853	0.1266	L	0.44542	1.39	0.45066	D	0.998082	D	0.89917	1.0	D	0.70227	0.968	T	0.19745	-1.0296	10	0.45353	T	0.12	.	17.7051	0.88306	0.0:0.0:1.0:0.0	.	152	Q8IW03	SIAH3_HUMAN	V	152	ENSP00000383256:A152V	ENSP00000383256:A152V	A	-	2	0	SIAH3	45255874	1.000000	0.71417	0.748000	0.31131	0.993000	0.82548	4.836000	0.62789	2.431000	0.82371	0.561000	0.74099	GCG		0.617	SIAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044788.2	NM_198849		13	26	0	0	0	1	0	13	26				
ZDHHC5	25921	broad.mit.edu	37	11	57457663	57457663	+	Missense_Mutation	SNP	G	G	A	rs141814126		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr11:57457663G>A	ENST00000287169.3	+	5	1907	c.545G>A	c.(544-546)cGc>cAc	p.R182H	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.R129H	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	182					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						TCAGGGGTCCGCACGGCTGTC	0.517													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19018	0.0		0.0	False		,,,				2504	0.0					ENST00000287169.3																			0				endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						c.(544-546)cGc>cAc		zinc finger, DHHC-type containing 5		G	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	119.0	116.0	117.0		545	5.1	1.0	11	dbSNP_134	117	0,8592		0,0,4296	no	missense	ZDHHC5	NM_015457.2	29	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	benign	182/716	57457663	1,12993	2201	4296	6497	SO:0001583	missense	25921					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:57457663G>A	AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"""Zinc fingers, DHHC-type"""	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.545G>A	11.37:g.57457663G>A	ENSP00000287169:p.Arg182His					ZDHHC5_ENST00000527985.1_Missense_Mutation_p.R129H	p.R182H	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN			5	1907	+			182					Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Missense_Mutation	SNP	ENST00000287169.3	37	c.545G>A	CCDS7965.1	.	.	.	.	.	.	.	.	.	.	G	8.054	0.766690	0.15983	2.27E-4	0.0	ENSG00000156599	ENST00000527985;ENST00000287169;ENST00000528177;ENST00000532842	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	5.08	5.08	0.68730	.	0.441491	0.26474	N	0.024161	T	0.08179	0.0204	N	0.01505	-0.83	0.41900	D	0.990416	B	0.06786	0.001	B	0.04013	0.001	T	0.20907	-1.0261	10	0.02654	T	1	-3.673	11.7145	0.51643	0.0812:0.0:0.9188:0.0	.	182	Q9C0B5	ZDHC5_HUMAN	H	129;182;80;80	ENSP00000432202:R129H;ENSP00000287169:R182H;ENSP00000431209:R80H;ENSP00000435593:R80H	ENSP00000287169:R182H	R	+	2	0	ZDHHC5	57214239	0.994000	0.37717	1.000000	0.80357	0.994000	0.84299	2.274000	0.43390	2.634000	0.89283	0.563000	0.77884	CGC		0.517	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1	NM_015457		4	91	0	0	0	1	0	4	91				
RYR2	6262	broad.mit.edu	37	1	237777418	237777418	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr1:237777418G>A	ENST00000366574.2	+	37	5307	c.4990G>A	c.(4990-4992)Gtc>Atc	p.V1664I	RYR2_ENST00000542537.1_Missense_Mutation_p.V1648I|RYR2_ENST00000360064.6_Missense_Mutation_p.V1662I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1664	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.V1662L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTACTCAGCCGTCTGTGCTCT	0.517																																						ENST00000366574.2																			1	Substitution - Missense(1)	p.V1662L(1)	lung(1)	NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(4990-4992)Gtc>Atc		ryanodine receptor 2 (cardiac)							65.0	66.0	65.0					1																	237777418		2026	4196	6222	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237777418G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4990G>A	1.37:g.237777418G>A	ENSP00000355533:p.Val1664Ile					RYR2_ENST00000542537.1_Missense_Mutation_p.V1648I|RYR2_ENST00000360064.6_Missense_Mutation_p.V1662I	p.V1664I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5307	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1664			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.4990G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931319	0.52866	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96940	-4.18;-4.15;-4.17	5.78	5.78	0.91487	.	0.095940	0.42420	D	0.000720	D	0.95720	0.8608	M	0.72118	2.19	0.80722	D	1	B	0.23249	0.082	B	0.14023	0.01	D	0.92836	0.6284	10	0.62326	D	0.03	.	20.0203	0.97492	0.0:0.0:1.0:0.0	.	1664	Q92736	RYR2_HUMAN	I	1664;1662;1648	ENSP00000355533:V1664I;ENSP00000353174:V1662I;ENSP00000443798:V1648I	ENSP00000353174:V1662I	V	+	1	0	RYR2	235844041	1.000000	0.71417	0.893000	0.35052	0.995000	0.86356	3.722000	0.54948	2.730000	0.93505	0.655000	0.94253	GTC		0.517	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		10	22	0	0	0	1	0	10	22				
OR4C6	219432	broad.mit.edu	37	11	55433101	55433101	+	Silent	SNP	C	C	T	rs144378683		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr11:55433101C>T	ENST00000314259.3	+	1	488	c.459C>T	c.(457-459)caC>caT	p.H153H		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H153H(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GATTTATGCACGCAATGATAC	0.463																																						ENST00000314259.3																			1	Substitution - coding silent(1)	p.H153H(1)	large_intestine(1)	breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(457-459)caC>caT		olfactory receptor, family 4, subfamily C, member 6							102.0	98.0	99.0					11																	55433101		2200	4296	6496	SO:0001819	synonymous_variant	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433101C>T	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.459C>T	11.37:g.55433101C>T							p.H153H	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	488	+			153					B2RP11|Q6IFD2	Silent	SNP	ENST00000314259.3	37	c.459C>T	CCDS31506.1																																																																																				0.463	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		20	66	0	0	0	1	0	20	66				
ERN1	2081	broad.mit.edu	37	17	62131666	62131666	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr17:62131666T>G	ENST00000433197.3	-	15	1992	c.1897A>C	c.(1897-1899)Aag>Cag	p.K633Q		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TGCCGGTCCTTCTCCGTGCAG	0.488																																						ENST00000433197.2																			0				central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						c.(1897-1899)Aag>Cag		endoplasmic reticulum to nucleus signaling 1							57.0	57.0	57.0					17																	62131666		2036	4210	6246	SO:0001583	missense	2081				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:62131666T>G	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.1897A>C	17.37:g.62131666T>G	ENSP00000401445:p.Lys633Gln						p.K633Q	NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN			15	1992	-			633			Protein kinase.			Missense_Mutation	SNP	ENST00000433197.3	37	c.1897A>C	CCDS45762.1	.	.	.	.	.	.	.	.	.	.	T	9.977	1.227043	0.22542	.	.	ENSG00000178607	ENST00000433197	T	0.65364	-0.15	5.49	-2.17	0.07059	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.286532	0.43416	D	0.000576	T	0.35307	0.0927	N	0.10916	0.065	0.33810	D	0.627759	B	0.02656	0.0	B	0.01281	0.0	T	0.47433	-0.9118	10	0.02654	T	1	-10.169	16.6684	0.85259	0.0:0.0:0.5305:0.4695	.	633	O75460	ERN1_HUMAN	Q	633	ENSP00000401445:K633Q	ENSP00000401445:K633Q	K	-	1	0	ERN1	59485398	0.052000	0.20516	0.726000	0.30738	0.362000	0.29581	-0.045000	0.12003	-0.234000	0.09782	-0.313000	0.08912	AAG		0.488	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		5	16	0	0	0	1	0	5	16				
PRB4	5545	broad.mit.edu	37	12	11461396	11461396	+	Missense_Mutation	SNP	C	C	T	rs374921001		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr12:11461396C>T	ENST00000535904.1	-	3	554	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	PRB4_ENST00000445719.2_Intron|PRB4_ENST00000279575.1_Missense_Mutation_p.R174Q			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	195	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		Missing (in allele S).	Missing (in Ref. 7; CAA30542). {ECO:0000305}.		extracellular region (GO:0005576)		p.R174Q(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TCGGGCACTTCGGGACTTGTT	0.597										HNSCC(22;0.051)																												ENST00000279575.1																			1	Substitution - Missense(1)	p.R174Q(1)	large_intestine(1)	breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						c.(520-522)cGa>cAa		proline-rich protein BstNI subfamily 4							181.0	197.0	192.0					12																	11461396		2203	4300	6503	SO:0001583	missense	5545					extracellular region		g.chr12:11461396C>T		CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.521G>A	12.37:g.11461396C>T	ENSP00000442834:p.Arg174Gln	HNSCC(22;0.051)				PRB4_ENST00000445719.2_Intron|PRB4_ENST00000535904.1_Missense_Mutation_p.R174Q	p.R174Q	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN			3	554	-			237	Missing (in Ref. 7; CAA30542).	Missing (in allele S).	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP	ENST00000535904.1	37	c.521G>A	CCDS8641.1	.	.	.	.	.	.	.	.	.	.	.	0.007	-1.939463	0.00484	.	.	ENSG00000230657	ENST00000279575;ENST00000535904	T;T	0.03920	3.76;3.76	0.714	-0.257	0.12979	.	.	.	.	.	T	0.01454	0.0047	N	0.01168	-0.975	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.48445	-0.9035	8	0.13108	T	0.6	.	.	.	.	.	174	E9PAL0	.	Q	174	ENSP00000279575:R174Q;ENSP00000442834:R174Q	ENSP00000279575:R174Q	R	-	2	0	PRB4	11352663	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	-0.327000	0.07955	-0.277000	0.09193	-1.126000	0.01995	CGA		0.597	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723		73	232	0	0	0	1	0	73	232				
JAG2	3714	broad.mit.edu	37	14	105622205	105622205	+	Silent	SNP	G	G	A	rs372506434		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr14:105622205G>A	ENST00000331782.3	-	4	1000	c.597C>T	c.(595-597)gaC>gaT	p.D199D	JAG2_ENST00000347004.2_Silent_p.D199D|RP11-44N21.4_ENST00000548203.1_RNA	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	199	DSL. {ECO:0000255|PROSITE- ProRule:PRU00377}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		AGTAGTTCTCGTCGCAGCGCA	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		16130	0.0		0.0	False		,,,				2504	0.001					ENST00000331782.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(595-597)gaC>gaT		jagged 2							77.0	54.0	62.0					14																	105622205		2197	4298	6495	SO:0001819	synonymous_variant	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105622205G>A	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.597C>T	14.37:g.105622205G>A						RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Silent_p.D199D	p.D199D	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	4	1000	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	199			DSL.		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Silent	SNP	ENST00000331782.3	37	c.597C>T	CCDS9998.1																																																																																				0.627	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			4	18	0	0	0	1	0	4	18				
FAT4	79633	broad.mit.edu	37	4	126355498	126355498	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr4:126355498A>G	ENST00000394329.3	+	7	7130	c.7117A>G	c.(7117-7119)Att>Gtt	p.I2373V	FAT4_ENST00000335110.5_Missense_Mutation_p.I671V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2373	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTTCACAACAATTCCTGAGGA	0.413																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(7117-7119)Att>Gtt		FAT atypical cadherin 4							205.0	171.0	183.0					4																	126355498		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126355498A>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.7117A>G	4.37:g.126355498A>G	ENSP00000377862:p.Ile2373Val					FAT4_ENST00000335110.5_Missense_Mutation_p.I671V	p.I2373V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			7	7130	+			2373			Cadherin 23.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.7117A>G	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	4.902	0.167606	0.09339	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.47869	0.83;0.83	5.0	3.82	0.43975	Cadherin (3);Cadherin-like (1);	0.227117	0.21785	U	0.069154	T	0.25082	0.0609	N	0.17345	0.48	0.40528	D	0.980908	B;B	0.14012	0.006;0.009	B;B	0.15870	0.009;0.014	T	0.11299	-1.0593	10	0.02654	T	1	.	8.5926	0.33697	0.8316:0.0:0.1684:0.0	.	671;2373	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	V	2373;671	ENSP00000377862:I2373V;ENSP00000335169:I671V	ENSP00000335169:I671V	I	+	1	0	FAT4	126574948	0.891000	0.30450	0.820000	0.32676	0.967000	0.64934	1.821000	0.39041	0.926000	0.37118	0.533000	0.62120	ATT		0.413	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		23	84	0	0	0	1	0	23	84				
NLRP11	204801	broad.mit.edu	37	19	56307589	56307589	+	Silent	SNP	G	G	A	rs116391886	byFrequency	TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr19:56307589G>A	ENST00000589093.1	-	6	2292	c.2199C>T	c.(2197-2199)agC>agT	p.S733S	NLRP11_ENST00000360133.3_Silent_p.S679S|NLRP11_ENST00000592953.1_Silent_p.S634S|NLRP11_ENST00000589824.2_Silent_p.S679S|NLRP11_ENST00000443188.1_Silent_p.S733S			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	733							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CTTCACATTCGCTGGCTCGCA	0.443																																						ENST00000443188.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66						c.(2197-2199)agC>agT		NLR family, pyrin domain containing 11							99.0	92.0	94.0					19																	56307589		2203	4300	6503	SO:0001819	synonymous_variant	204801						ATP binding	g.chr19:56307589G>A	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2199C>T	19.37:g.56307589G>A						NLRP11_ENST00000360133.3_Silent_p.S679S|NLRP11_ENST00000589093.1_Silent_p.S733S|NLRP11_ENST00000592953.1_Silent_p.S634S|NLRP11_ENST00000589824.2_Silent_p.S679S	p.S733S	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	8	2909	-		Colorectal(82;0.0002)	733					C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Silent	SNP	ENST00000589093.1	37	c.2199C>T	CCDS12935.1																																																																																				0.443	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		12	52	0	0	0	1	0	12	52				
SLC2A13	114134	broad.mit.edu	37	12	40345131	40345131	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr12:40345131G>A	ENST00000280871.4	-	4	1012	c.962C>T	c.(961-963)cCa>cTa	p.P321L	SLC2A13_ENST00000380858.1_Missense_Mutation_p.P321L	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	321					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				TCGGCGAGTTGGGGGATAACT	0.373										HNSCC(50;0.14)																												ENST00000280871.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29						c.(961-963)cCa>cTa		solute carrier family 2 (facilitated glucose transporter), member 13							81.0	81.0	81.0					12																	40345131		2203	4300	6503	SO:0001583	missense	114134					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	g.chr12:40345131G>A	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.962C>T	12.37:g.40345131G>A	ENSP00000280871:p.Pro321Leu	HNSCC(50;0.14)				SLC2A13_ENST00000380858.1_Missense_Mutation_p.P321L	p.P321L	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN			4	1012	-		Lung NSC(34;0.105)|all_lung(34;0.123)	321					Q17S07	Missense_Mutation	SNP	ENST00000280871.4	37	c.962C>T	CCDS8736.2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158915	0.78226	.	.	ENSG00000151229	ENST00000280871;ENST00000380858	T;T	0.58358	0.34;0.34	5.21	5.21	0.72293	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.051545	0.85682	D	0.000000	T	0.53981	0.1830	L	0.58428	1.81	0.80722	D	1	P;P	0.47253	0.489;0.892	P;P	0.45232	0.474;0.474	T	0.49041	-0.8980	10	0.13853	T	0.58	-13.595	18.9337	0.92577	0.0:0.0:1.0:0.0	.	321;321	Q96QE2;E9PE47	MYCT_HUMAN;.	L	321	ENSP00000280871:P321L;ENSP00000370239:P321L	ENSP00000280871:P321L	P	-	2	0	SLC2A13	38631398	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.619000	0.90938	2.706000	0.92434	0.555000	0.69702	CCA		0.373	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			6	45	0	0	0	1	0	6	45				
EIF4ENIF1	56478	broad.mit.edu	37	22	31845480	31845480	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr22:31845480G>A	ENST00000397525.1	-	12	1845	c.1622C>T	c.(1621-1623)tCc>tTc	p.S541F	EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.S366F|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.S196F|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.S541F|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.S517F	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	541						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAGAAGATTGGAAGAAGCAGG	0.478																																						ENST00000397525.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1621-1623)tCc>tTc		eukaryotic translation initiation factor 4E nuclear import factor 1							96.0	98.0	97.0					22																	31845480		2203	4300	6503	SO:0001583	missense	56478					nucleus	protein binding|protein transporter activity	g.chr22:31845480G>A	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.1622C>T	22.37:g.31845480G>A	ENSP00000380659:p.Ser541Phe					EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.S517F|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.S541F|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.S196F|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.S366F	p.S541F	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN			12	1845	-			541					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	c.1622C>T	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.254899	0.80135	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180	.	.	.	5.8	5.8	0.92144	.	0.171581	0.53938	D	0.000056	T	0.75700	0.3885	L	0.59436	1.845	0.52501	D	0.999955	D;D;D;D	0.76494	0.999;0.999;0.999;0.997	D;D;D;D	0.87578	0.998;0.998;0.965;0.995	T	0.68247	-0.5459	9	0.17369	T	0.5	-12.5451	19.0483	0.93030	0.0:0.0:1.0:0.0	.	366;541;366;517	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	F	366;541;541;517;196	.	ENSP00000328103:S541F	S	-	2	0	EIF4ENIF1	30175480	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.352000	0.79404	2.747000	0.94245	0.460000	0.39030	TCC		0.478	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		9	73	0	0	0	1	0	9	73				
PLXNA1	5361	broad.mit.edu	37	3	126749159	126749159	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr3:126749159C>T	ENST00000393409.2	+	28	5135	c.5135C>T	c.(5134-5136)cCg>cTg	p.P1712L	PLXNA1_ENST00000251772.4_Missense_Mutation_p.P1689L	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1712					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TCAGCCCTGCCGCTGGCCATC	0.602																																						ENST00000393409.2																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(5134-5136)cCg>cTg		plexin A1							121.0	110.0	114.0					3																	126749159		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126749159C>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.5135C>T	3.37:g.126749159C>T	ENSP00000377061:p.Pro1712Leu					PLXNA1_ENST00000251772.4_Missense_Mutation_p.P1689L	p.P1712L	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	28	5135	+			1712						Missense_Mutation	SNP	ENST00000393409.2	37	c.5135C>T	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399025	0.83120	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.71341	-0.56;-0.56	3.39	3.39	0.38822	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.162697	0.40302	N	0.001132	D	0.86602	0.5972	M	0.92923	3.36	0.80722	D	1	D;D	0.76494	0.999;0.995	D;P	0.70935	0.971;0.892	D	0.90556	0.4512	10	0.72032	D	0.01	.	15.2982	0.73925	0.0:1.0:0.0:0.0	.	326;1712	Q6ZTY7;Q9UIW2	.;PLXA1_HUMAN	L	1712;1689	ENSP00000377061:P1712L;ENSP00000251772:P1689L	ENSP00000251772:P1689L	P	+	2	0	PLXNA1	128231849	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	7.464000	0.80887	1.885000	0.54596	0.313000	0.20887	CCG		0.602	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		22	80	0	0	0	1	0	22	80				
TUBGCP6	85378	broad.mit.edu	37	22	50659379	50659379	+	Missense_Mutation	SNP	C	C	T	rs202000654		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr22:50659379C>T	ENST00000248846.5	-	16	3513	c.3409G>A	c.(3409-3411)Gtg>Atg	p.V1137M	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_Missense_Mutation_p.V1137M			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1137	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCGTTGGACACGTGCCCGTGG	0.622																																						ENST00000439308.2																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(3409-3411)Gtg>Atg		tubulin, gamma complex associated protein 6		C	MET/VAL	0,4406		0,0,2203	144.0	139.0	140.0		3409	5.2	0.7	22		140	3,8597	3.0+/-9.4	0,3,4297	yes	missense	TUBGCP6	NM_020461.3	21	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	1137/1820	50659379	3,13003	2203	4300	6503	SO:0001583	missense	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50659379C>T	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.3409G>A	22.37:g.50659379C>T	ENSP00000248846:p.Val1137Met					TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Missense_Mutation_p.V1137M	p.V1137M	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	16	3901	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1137			9 X 27 AA tandem repeats.		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	c.3409G>A	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	c	16.80	3.224444	0.58668	0.0	3.49E-4	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.14766	2.89;2.48	5.17	5.17	0.71159	.	0.442752	0.15798	U	0.244097	T	0.34395	0.0896	L	0.55481	1.735	0.28085	N	0.932031	P;D;D	0.76494	0.882;0.999;0.999	B;D;D	0.68621	0.298;0.938;0.959	T	0.05162	-1.0902	10	0.49607	T	0.09	.	18.6169	0.91305	0.0:1.0:0.0:0.0	.	1129;1137;1137	B2RWN4;Q96RT7;Q96RT7-3	.;GCP6_HUMAN;.	M	1137	ENSP00000248846:V1137M;ENSP00000397387:V1137M	ENSP00000248846:V1137M	V	-	1	0	TUBGCP6	49001506	0.000000	0.05858	0.728000	0.30774	0.002000	0.02628	0.456000	0.21859	2.569000	0.86673	0.650000	0.86243	GTG		0.622	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		25	102	0	0	0	1	0	25	102				
MUC16	94025	broad.mit.edu	37	19	9075892	9075892	+	Silent	SNP	T	T	G			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr19:9075892T>G	ENST00000397910.4	-	3	11757	c.11554A>C	c.(11554-11556)Aga>Cga	p.R3852R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3853	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCCCTTGTCTCTGAAAAGTT	0.493																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(11554-11556)Aga>Cga		mucin 16, cell surface associated							167.0	148.0	154.0					19																	9075892		2027	4188	6215	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9075892T>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.11554A>C	19.37:g.9075892T>G							p.R3852R	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	11757	-			3853			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.11554A>C	CCDS54212.1																																																																																				0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	55	0	0	0	1	0	4	55				
CSMD3	114788	broad.mit.edu	37	8	113353895	113353895	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr8:113353895T>A	ENST00000297405.5	-	42	6707	c.6463A>T	c.(6463-6465)Aat>Tat	p.N2155Y	CSMD3_ENST00000343508.3_Missense_Mutation_p.N2115Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.N2085Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.N2051Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2155	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTAGAAAAATTTACAAACTGG	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(6463-6465)Aat>Tat		CUB and Sushi multiple domains 3							60.0	58.0	59.0					8																	113353895		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113353895T>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6463A>T	8.37:g.113353895T>A	ENSP00000297405:p.Asn2155Tyr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.N2115Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.N2085Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.N2051Y	p.N2155Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			42	6707	-			2155			CUB 12.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.6463A>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.304362	0.81136	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24	4.66	4.66	0.58398	CUB (5);	0.063541	0.64402	D	0.000011	T	0.40196	0.1107	M	0.68952	2.095	0.58432	D	0.99999	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.91635	0.999;0.995;0.999	T	0.30179	-0.9987	10	0.72032	D	0.01	.	14.5452	0.68024	0.0:0.0:0.0:1.0	.	2051;2155;2115	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Y	2115;2155;1425;2051;2085	ENSP00000345799:N2115Y;ENSP00000297405:N2155Y;ENSP00000341558:N1425Y;ENSP00000412263:N2051Y;ENSP00000343124:N2085Y	ENSP00000297405:N2155Y	N	-	1	0	CSMD3	113423071	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.789000	0.85783	2.076000	0.62316	0.533000	0.62120	AAT		0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		8	17	0	0	0	1	0	8	17				
MYOCD	93649	broad.mit.edu	37	17	12666860	12666860	+	Missense_Mutation	SNP	G	G	A	rs370289662		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr17:12666860G>A	ENST00000343344.4	+	13	2716	c.2716G>A	c.(2716-2718)Gcc>Acc	p.A906T	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000425538.1_Missense_Mutation_p.A954T			Q8IZQ8	MYCD_HUMAN	myocardin	906					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.A906T(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AGGCTTTAGCGCCCTCACCAC	0.517																																						ENST00000425538.1																			1	Substitution - Missense(1)	p.A906T(1)	large_intestine(1)	breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(2860-2862)Gcc>Acc		myocardin		G	THR/ALA,THR/ALA	0,4406		0,0,2203	62.0	56.0	58.0		2716,2860	2.6	0.5	17		58	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MYOCD	NM_153604.2,NM_001146312.1	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	906/939,954/987	12666860	1,13005	2203	4300	6503	SO:0001583	missense	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12666860G>A	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.2716G>A	17.37:g.12666860G>A	ENSP00000341835:p.Ala906Thr					MYOCD_ENST00000343344.4_Missense_Mutation_p.A906T|RP11-1090M7.1_ENST00000584772.1_RNA	p.A954T	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	14	3060	+			906					Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	c.2860G>A	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	G	6.641	0.486760	0.12641	0.0	1.16E-4	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000443061	T;T	0.43688	0.94;0.95	6.08	2.59	0.31030	.	0.687575	0.15464	N	0.260979	T	0.20455	0.0492	N	0.08118	0	0.23076	N	0.998331	B;B;B	0.29341	0.242;0.194;0.003	B;B;B	0.20767	0.008;0.031;0.004	T	0.12682	-1.0538	10	0.56958	D	0.05	-13.4936	7.6075	0.28110	0.2468:0.0:0.1263:0.6269	.	630;954;906	E9PEP9;Q8IZQ8-3;Q8IZQ8	.;.;MYCD_HUMAN	T	630;954;906;616	ENSP00000341835:A906T;ENSP00000400148:A616T	ENSP00000341835:A906T	A	+	1	0	MYOCD	12607585	0.944000	0.32072	0.460000	0.27093	0.011000	0.07611	1.111000	0.31159	0.160000	0.19432	-1.061000	0.02294	GCC		0.517	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		11	41	0	0	0	1	0	11	41				
HSF2BP	11077	broad.mit.edu	37	21	44949704	44949704	+	Missense_Mutation	SNP	C	C	T	rs140530326		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr21:44949704C>T	ENST00000291560.2	-	9	1266	c.935G>A	c.(934-936)cGc>cAc	p.R312H	HSF2BP_ENST00000542962.1_Missense_Mutation_p.R237H	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	312					spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)				kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		GCGGGGGTTGCGGCTCTTGGA	0.592													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15109	0.0		0.0	False		,,,				2504	0.0					ENST00000291560.2																			0				kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7						c.(934-936)cGc>cAc		heat shock transcription factor 2 binding protein		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	61.0	63.0	62.0		935	4.5	1.0	21	dbSNP_134	62	1,8599	1.2+/-3.3	0,1,4299	yes	missense	HSF2BP	NM_007031.1	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	312/335	44949704	2,13004	2203	4300	6503	SO:0001583	missense	11077				spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding	g.chr21:44949704C>T	AB007131	CCDS13697.1	21q22.3	2008-07-31			ENSG00000160207	ENSG00000160207			5226	protein-coding gene	gene with protein product	"""heat shock factor 2 binding protein"""	604554				9651507	Standard	XM_005261090		Approved		uc002zdi.3	O75031	OTTHUMG00000086863	ENST00000291560.2:c.935G>A	21.37:g.44949704C>T	ENSP00000291560:p.Arg312His					HSF2BP_ENST00000542962.1_Missense_Mutation_p.R237H	p.R312H	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN		STAD - Stomach adenocarcinoma(101;0.18)	9	1266	-			312					B4DX36	Missense_Mutation	SNP	ENST00000291560.2	37	c.935G>A	CCDS13697.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520117	0.64747	2.27E-4	1.16E-4	ENSG00000160207	ENST00000291560;ENST00000542962	T;T	0.68479	-0.33;0.78	5.57	4.5	0.54988	Armadillo-like helical (1);Armadillo-type fold (1);	0.373904	0.31082	N	0.008287	T	0.73273	0.3566	L	0.54323	1.7	0.46823	D	0.999216	D	0.67145	0.996	P	0.56916	0.809	T	0.74657	-0.3592	10	0.51188	T	0.08	-5.0295	15.031	0.71708	0.0:0.9185:0.0:0.0815	.	312	O75031	HSF2B_HUMAN	H	312;237	ENSP00000291560:R312H;ENSP00000443367:R237H	ENSP00000291560:R312H	R	-	2	0	HSF2BP	43774132	1.000000	0.71417	0.997000	0.53966	0.874000	0.50279	2.631000	0.46502	2.633000	0.89246	0.563000	0.77884	CGC		0.592	HSF2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195620.1	NM_007031		28	58	0	0	0	1	0	28	58				
ZNF460	10794	broad.mit.edu	37	19	57802451	57802451	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr19:57802451G>T	ENST00000360338.3	+	3	864	c.542G>T	c.(541-543)tGc>tTc	p.C181F	ZNF460_ENST00000537645.1_Missense_Mutation_p.C140F	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AATGAGAATTGCTTCCTTGTT	0.433																																						ENST00000360338.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(541-543)tGc>tTc		zinc finger protein 460							97.0	96.0	96.0					19																	57802451		2203	4300	6503	SO:0001583	missense	10794				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57802451G>T	X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"""Zinc fingers, C2H2-type"", ""-"""	21628	protein-coding gene	gene with protein product		604755	"""zinc finger protein 272"""	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.542G>T	19.37:g.57802451G>T	ENSP00000353491:p.Cys181Phe					ZNF460_ENST00000537645.1_Missense_Mutation_p.C140F	p.C181F	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	864	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	181					A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Missense_Mutation	SNP	ENST00000360338.3	37	c.542G>T	CCDS12949.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.412947	0.01145	.	.	ENSG00000197714	ENST00000537645;ENST00000360338	T;T	0.14516	2.5;2.5	1.68	0.613	0.17597	.	.	.	.	.	T	0.06554	0.0168	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.37753	-0.9692	9	0.33141	T	0.24	.	3.123	0.06397	0.1847:0.2847:0.5306:0.0	.	181	Q14592	ZN460_HUMAN	F	140;181	ENSP00000446167:C140F;ENSP00000353491:C181F	ENSP00000353491:C181F	C	+	2	0	ZNF460	62494263	0.000000	0.05858	0.002000	0.10522	0.078000	0.17371	-0.241000	0.08940	0.258000	0.21686	-0.143000	0.13931	TGC		0.433	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1	NM_006635		17	76	1	0	3.45872e-05	1	3.50676e-05	17	76				
SLFN13	146857	broad.mit.edu	37	17	33767661	33767661	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr17:33767661T>A	ENST00000285013.6	-	6	2922	c.2647A>T	c.(2647-2649)Atc>Ttc	p.I883F	SLFN13_ENST00000526861.1_Missense_Mutation_p.I883F|SLFN13_ENST00000534689.1_Missense_Mutation_p.I565F|SLFN13_ENST00000360502.2_Missense_Mutation_p.I565F|SLFN13_ENST00000542635.1_Missense_Mutation_p.I883F|SLFN13_ENST00000533791.1_Missense_Mutation_p.I883F	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	883						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCCAGACAGATCAGAATATTG	0.448																																						ENST00000285013.6																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31						c.(2647-2649)Atc>Ttc		schlafen family member 13							158.0	147.0	151.0					17																	33767661		2203	4300	6503	SO:0001583	missense	146857					intracellular	ATP binding	g.chr17:33767661T>A	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.2647A>T	17.37:g.33767661T>A	ENSP00000285013:p.Ile883Phe					SLFN13_ENST00000533791.1_Missense_Mutation_p.I883F|SLFN13_ENST00000360502.2_Missense_Mutation_p.I565F|SLFN13_ENST00000542635.1_Missense_Mutation_p.I883F|SLFN13_ENST00000534689.1_Missense_Mutation_p.I565F|SLFN13_ENST00000526861.1_Missense_Mutation_p.I883F	p.I883F	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	6	2922	-			883					E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	ENST00000285013.6	37	c.2647A>T	CCDS32620.1	.	.	.	.	.	.	.	.	.	.	t	13.73	2.324200	0.41197	.	.	ENSG00000154760	ENST00000285013;ENST00000360502;ENST00000526861;ENST00000542635;ENST00000534689	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	3.27	-6.53	0.01866	.	1.546300	0.04149	N	0.321022	T	0.68751	0.3035	L	0.47716	1.5	0.09310	N	1	B;B	0.33694	0.007;0.421	B;B	0.24541	0.004;0.054	T	0.60732	-0.7205	10	0.87932	D	0	.	6.6224	0.22810	0.1213:0.1521:0.6205:0.1062	.	565;883	Q68D06-2;Q68D06	.;SLN13_HUMAN	F	883;565;883;883;565	ENSP00000285013:I883F;ENSP00000353692:I565F;ENSP00000434439:I883F;ENSP00000444016:I883F;ENSP00000435442:I565F	ENSP00000285013:I883F	I	-	1	0	SLFN13	30791774	0.000000	0.05858	0.001000	0.08648	0.694000	0.40290	-1.355000	0.02612	-1.734000	0.01355	-0.534000	0.04291	ATC		0.448	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682		24	110	0	0	0	1	0	24	110				
ANKRD13C	81573	broad.mit.edu	37	1	70779456	70779456	+	Silent	SNP	T	T	C			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr1:70779456T>C	ENST00000370944.4	-	5	994	c.681A>G	c.(679-681)ctA>ctG	p.L227L	ANKRD13C_ENST00000262346.6_Silent_p.L192L	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	227					protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						AGTGAAGTTCTAGATAAAAGT	0.289																																						ENST00000370944.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						c.(679-681)ctA>ctG		ankyrin repeat domain 13C							71.0	81.0	78.0					1																	70779456		2202	4287	6489	SO:0001819	synonymous_variant	81573				protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding	g.chr1:70779456T>C		CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"""Ankyrin repeat domain containing"""	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.681A>G	1.37:g.70779456T>C						ANKRD13C_ENST00000262346.6_Silent_p.L192L	p.L227L	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN			5	994	-			227					B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Silent	SNP	ENST00000370944.4	37	c.681A>G	CCDS648.2																																																																																				0.289	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025903.1	NM_030816		16	65	0	0	0	1	0	16	65				
LRP2	4036	broad.mit.edu	37	2	170093742	170093742	+	Missense_Mutation	SNP	C	C	T	rs200469773		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr2:170093742C>T	ENST00000263816.3	-	28	4847	c.4562G>A	c.(4561-4563)cGt>cAt	p.R1521H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1521					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GTAAAGATTACGACCTACCCA	0.363													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19333	0.0		0.0	False		,,,				2504	0.0					ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(4561-4563)cGt>cAt		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	131.0	122.0	126.0		4562	5.3	1.0	2		126	0,8600		0,0,4300	yes	missense	LRP2	NM_004525.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1521/4656	170093742	1,13005	2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170093742C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.4562G>A	2.37:g.170093742C>T	ENSP00000263816:p.Arg1521His						p.R1521H	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	28	4847	-			1521					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.4562G>A	CCDS2232.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	26.8	4.775447	0.90108	2.27E-4	0.0	ENSG00000081479	ENST00000263816	D	0.96396	-4.0	5.32	5.32	0.75619	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.050975	0.85682	D	0.000000	D	0.97870	0.9300	M	0.73372	2.23	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97690	1.0178	10	0.45353	T	0.12	.	19.3646	0.94456	0.0:1.0:0.0:0.0	.	1521	P98164	LRP2_HUMAN	H	1521	ENSP00000263816:R1521H	ENSP00000263816:R1521H	R	-	2	0	LRP2	169801988	1.000000	0.71417	0.989000	0.46669	0.986000	0.74619	4.920000	0.63390	2.639000	0.89480	0.650000	0.86243	CGT		0.363	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		15	49	0	0	0	1	0	15	49				
MC2R	4158	broad.mit.edu	37	18	13884771	13884771	+	Silent	SNP	G	G	T			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr18:13884771G>T	ENST00000327606.3	-	2	927	c.747C>A	c.(745-747)ccC>ccA	p.P249P		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	249					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	AGGCGCAGTAGGGGTTACTTG	0.542																																					Colon(141;1584 1782 35999 48227 48692)	ENST00000327606.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(745-747)ccC>ccA		melanocortin 2 receptor (adrenocorticotropic hormone)	Corticotropin(DB01285)|Cosyntropin(DB01284)						87.0	79.0	82.0					18																	13884771		2203	4300	6503	SO:0001819	synonymous_variant	0				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13884771G>T		CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.747C>A	18.37:g.13884771G>T							p.P249P	NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN			2	927	-			249					A8K016|Q3MI45|Q504X6	Silent	SNP	ENST00000327606.3	37	c.747C>A	CCDS11869.1																																																																																				0.542	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			8	37	1	0	7.48243e-07	1	7.8031e-07	8	37				
IKZF1	10320	broad.mit.edu	37	7	50468070	50468070	+	Silent	SNP	C	C	T			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr7:50468070C>T	ENST00000331340.3	+	8	1460	c.1305C>T	c.(1303-1305)taC>taT	p.Y435Y	IKZF1_ENST00000359197.5_Silent_p.Y393Y|IKZF1_ENST00000343574.5_Silent_p.Y348Y|IKZF1_ENST00000349824.4_Silent_p.Y292Y|IKZF1_ENST00000346667.4_Silent_p.Y205Y|IKZF1_ENST00000439701.1_Silent_p.Y393Y|IKZF1_ENST00000357364.4_Silent_p.Y348Y|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000438033.1_Silent_p.Y348Y	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	435					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				ACCGCGCCTACGACCTGCTGC	0.672			"""D,T"""	BCL6	"""ALL, DLBCL"""																																	ENST00000331340.3				"""Rec,Dom"""	yes		7	7p12.2	10320	"""D,T"""	IKAROS family zinc finger 1			L	BCL6		"""ALL, DLBCL"""		28	Unknown(28)	p.?(28)	haematopoietic_and_lymphoid_tissue(28)	haematopoietic_and_lymphoid_tissue(275)|lung(1)	276						c.(1303-1305)taC>taT		IKAROS family zinc finger 1 (Ikaros)							29.0	33.0	32.0					7																	50468070		2127	4231	6358	SO:0001819	synonymous_variant	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50468070C>T	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.1305C>T	7.37:g.50468070C>T						IKZF1_ENST00000439701.1_Silent_p.Y393Y|IKZF1_ENST00000438033.1_Silent_p.Y348Y|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000343574.5_Silent_p.Y348Y|IKZF1_ENST00000359197.5_Silent_p.Y393Y|IKZF1_ENST00000346667.4_Silent_p.Y205Y|IKZF1_ENST00000349824.4_Silent_p.Y292Y|IKZF1_ENST00000357364.4_Silent_p.Y348Y	p.Y435Y	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN			8	1460	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	435					A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Silent	SNP	ENST00000331340.3	37	c.1305C>T																																																																																					0.672	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		7	34	0	0	0	1	0	7	34				
P2RY11	5032	broad.mit.edu	37	19	10224746	10224746	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr19:10224746G>A	ENST00000321826.4	+	2	641	c.457G>A	c.(457-459)Ggc>Agc	p.G153S	PPAN-P2RY11_ENST00000428358.1_3'UTR|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.G573S|PPAN_ENST00000556468.1_Missense_Mutation_p.G573S	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11	153					activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			GAGCGCTGCCGGCTGGGTCCT	0.697																																						ENST00000556468.1																			0				endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1717-1719)Ggc>Agc		peter pan homolog (Drosophila)							36.0	34.0	34.0					19																	10224746		2202	4299	6501	SO:0001583	missense	56342							g.chr19:10224746G>A	AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166	ENST00000321826.4:c.457G>A	19.37:g.10224746G>A	ENSP00000323872:p.Gly153Ser					P2RY11_ENST00000321826.4_Missense_Mutation_p.G153S|PPAN-P2RY11_ENST00000428358.1_3'UTR|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.G573S	p.G573S					OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		13	1744	+								B2R8X9|O43190|Q9BYU4|Q9H170	Missense_Mutation	SNP	ENST00000321826.4	37	c.1717G>A	CCDS12226.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299990	0.40694	.	.	ENSG00000243207;ENSG00000130810;ENSG00000244165	ENST00000393796;ENST00000556468;ENST00000321826	T;T;T	0.71461	-0.57;-0.57;-0.57	4.41	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	0.176770	0.35179	U	0.003392	T	0.52709	0.1751	L	0.37561	1.115	0.80722	D	1	P	0.44478	0.836	B	0.29716	0.106	T	0.57568	-0.7789	10	0.62326	D	0.03	.	10.4005	0.44227	0.0998:0.0:0.9002:0.0	.	153	Q96G91	P2Y11_HUMAN	S	573;573;153	ENSP00000377385:G573S;ENSP00000450710:G573S;ENSP00000323872:G153S	ENSP00000323872:G153S	G	+	1	0	PPAN;P2RY11;PPAN-P2RY11	10085746	0.979000	0.34478	0.797000	0.32132	0.042000	0.13812	2.636000	0.46545	1.059000	0.40554	0.561000	0.74099	GGC		0.697	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	NM_002566		8	28	0	0	0	1	0	8	28				
BAIAP2	10458	broad.mit.edu	37	17	79059507	79059507	+	Silent	SNP	G	G	A			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr17:79059507G>A	ENST00000321300.6	+	5	426	c.333G>A	c.(331-333)ctG>ctA	p.L111L	BAIAP2_ENST00000428708.2_Silent_p.L111L|BAIAP2_ENST00000435091.3_Silent_p.L111L|BAIAP2_ENST00000321280.7_Silent_p.L111L|BAIAP2_ENST00000575712.1_Silent_p.L111L|BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000392411.3_Silent_p.L33L|BAIAP2_ENST00000575245.1_Silent_p.L144L	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	111	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			AGGTGGAGCTGGACTCCAGGT	0.587																																						ENST00000321300.6																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18						c.(331-333)ctG>ctA		BAI1-associated protein 2							87.0	76.0	80.0					17																	79059507		2203	4300	6503	SO:0001819	synonymous_variant	10458				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr17:79059507G>A	AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.333G>A	17.37:g.79059507G>A						BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000575712.1_Silent_p.L111L|BAIAP2_ENST00000392411.3_Silent_p.L33L|BAIAP2_ENST00000428708.2_Silent_p.L111L|BAIAP2_ENST00000321280.7_Silent_p.L111L|BAIAP2_ENST00000435091.3_Silent_p.L111L|BAIAP2_ENST00000575245.1_Silent_p.L144L	p.L111L	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		5	426	+	all_neural(118;0.101)		111			IMD.		O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Silent	SNP	ENST00000321300.6	37	c.333G>A	CCDS11775.1																																																																																				0.587	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1			17	43	0	0	0	1	0	17	43				
SETD2	29072	broad.mit.edu	37	3	47161888	47161891	+	Frame_Shift_Del	DEL	CTCT	CTCT	-			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr3:47161888_47161891delCTCT	ENST00000409792.3	-	3	4277_4280	c.4235_4238delAGAG	c.(4234-4239)gagagtfs	p.ES1412fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1412					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTCAGAATCACTCTCTATTTCCTG	0.412			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(4234-4239)gtfs		SET domain containing 2				1,4265		0,1,2132						2.8	1.0			160	2,8252		1,0,4126	no	frameshift	SETD2	NM_014159.6		1,1,6258	A1A1,A1R,RR		0.0242,0.0234,0.024				3,12517				SO:0001589	frameshift_variant	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47161888_47161891delCTCT	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4235_4238delAGAG	3.37:g.47161888_47161891delCTCT	ENSP00000386759:p.Glu1412fs						p.ES1412fs	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	4277_4280	-		Acute lymphoblastic leukemia(5;0.0169)	1412					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Del	DEL	ENST00000409792.3	37	c.4235_4238delAGAG	CCDS2749.2																																																																																				0.412	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		12	54						12	54	---	---	---	---
ATP8A1	10396	broad.mit.edu	37	4	42626599	42626600	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr4:42626599_42626600delAA	ENST00000381668.5	-	4	547_548	c.316_317delTT	c.(316-318)ttafs	p.L106fs	ATP8A1_ENST00000264449.10_Frame_Shift_Del_p.L106fs	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	106					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TAAAATAAATAAGAGAGGAACC	0.292																																						ENST00000381668.5																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(316-318)afs		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42626599_42626600delAA	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.316_317delTT	4.37:g.42626599_42626600delAA	ENSP00000371084:p.Leu106fs					ATP8A1_ENST00000264449.10_Frame_Shift_Del_p.L106fs	p.L106fs	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN			4	547_548	-			106					Q32M35|Q32M36|Q4W5J7|Q4W5P2	Frame_Shift_Del	DEL	ENST00000381668.5	37	c.316_317delTT	CCDS3466.1																																																																																				0.292	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		9	38						9	38	---	---	---	---
DLX6	1750	broad.mit.edu	37	7	96635420	96635421	+	In_Frame_Ins	INS	-	-	GCC	rs527616759|rs570498188|rs559903070|rs374304439	byFrequency	TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr7:96635420_96635421insGCC	ENST00000518156.2	+	1	561_562	c.131_132insGCC	c.(130-135)cagccg>caGCCgccg	p.53_54insP	DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000431497.2_RNA|DLX6_ENST00000555308.1_5'Flank|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000437541.1_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					caacagcaacagccgccgccgc	0.698														532	0.10623	0.0076	0.0893	5008	,	,		7133	0.0685		0.1948	False		,,,				2504	0.1994					ENST00000518156.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(130-132)ccc>cGCCcc		distal-less homeobox 6																																				SO:0001652	inframe_insertion	1750				nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:96635420_96635421insGCC		CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"""Homeoboxes / ANTP class : NKL subclass"""	2919	protein-coding gene	gene with protein product		600030	"""distal-less homeo box 6"""			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.156_158dupGCC	7.37:g.96635427_96635429dupGCC	ENSP00000428480:p.Pro54_Pro55dup					DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000437541.1_RNA	p.43_44insR			P56179	DLX6_HUMAN			1	561_562	+	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		0					A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	In_Frame_Ins	INS	ENST00000518156.2	37	c.131_132insGCC	CCDS47647.2																																																																																				0.698	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222		2	4						2	4	---	---	---	---
ZNF658	26149	broad.mit.edu	37	9	40789482	40789483	+	Splice_Site	INS	-	-	A			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr9:40789482_40789483insA	ENST00000602553.1	-	2	94		c.e2-2		ZNF658_ENST00000441795.1_Splice_Site|ZNF658_ENST00000377626.3_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658						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(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTCATGTGCCTAAAAAAAAAAA	0.426																																						ENST00000602553.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46						c.e2-2		zinc finger protein 658																																				SO:0001630	splice_region_variant	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40789482_40789483insA	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.201-2->T	9.37:g.40789493_40789493dupA						ZNF658_ENST00000441795.1_Splice_Site|ZNF658_ENST00000377626.3_Intron				Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	2	94	-								Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Splice_Site	INS	ENST00000602553.1	37		CCDS35023.1																																																																																				0.426	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160	Intron	3	5						3	5	---	---	---	---
RP11-383M4.6	0	broad.mit.edu	37	9	84564499	84564500	+	lincRNA	DEL	CA	CA	-			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr9:84564499_84564500delCA	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							GAATAGATATCACCTGTCCCCA	0.505																																						ENST00000585776.1																			0																																																			0							g.chr9:84564499_84564500delCA																													9.37:g.84564499_84564500delCA						SPATA31D3_ENST00000334208.4_RNA								0	942	-									RNA	DEL	ENST00000585776.1	37																																																																																						0.505	RP11-383M4.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000453562.1			2	4						2	4	---	---	---	---
BCAR1	9564	broad.mit.edu	37	16	75271148	75271148	+	Frame_Shift_Del	DEL	G	G	-	rs578020858		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr16:75271148delG	ENST00000162330.5	-	3	854	c.728delC	c.(727-729)ccgfs	p.P243fs	BCAR1_ENST00000393420.6_Frame_Shift_Del_p.P243fs|BCAR1_ENST00000418647.3_Frame_Shift_Del_p.P289fs|BCAR1_ENST00000393422.2_Frame_Shift_Del_p.P261fs|BCAR1_ENST00000535626.2_Frame_Shift_Del_p.P95fs|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000542031.2_Frame_Shift_Del_p.P241fs|BCAR1_ENST00000538440.2_Frame_Shift_Del_p.P243fs|BCAR1_ENST00000546196.1_Frame_Shift_Del_p.P214fs|BCAR1_ENST00000420641.3_Frame_Shift_Del_p.P261fs	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	243	Substrate for kinases. {ECO:0000250}.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTGTGGCCCCGGGGCCAGCAG	0.697																																						ENST00000546196.1																			0				breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35						c.(640-642)cgfs		breast cancer anti-estrogen resistance 1							19.0	20.0	20.0					16																	75271148		2168	4266	6434	SO:0001589	frameshift_variant	9564				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	g.chr16:75271148delG	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.728delC	16.37:g.75271148delG	ENSP00000162330:p.Pro243fs					BCAR1_ENST00000542031.2_Frame_Shift_Del_p.P241fs|BCAR1_ENST00000538440.2_Frame_Shift_Del_p.P243fs|BCAR1_ENST00000535626.2_Frame_Shift_Del_p.P95fs|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Frame_Shift_Del_p.P261fs|BCAR1_ENST00000418647.3_Frame_Shift_Del_p.P289fs|BCAR1_ENST00000393420.6_Frame_Shift_Del_p.P243fs|BCAR1_ENST00000393422.2_Frame_Shift_Del_p.P261fs|BCAR1_ENST00000162330.5_Frame_Shift_Del_p.P243fs	p.P214fs			P56945	BCAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	3	2293	-			243			Substrate for kinases (By similarity).		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Frame_Shift_Del	DEL	ENST00000162330.5	37	c.641delC	CCDS10915.1																																																																																				0.697	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		2	4						2	4	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)ctafs	p.L454fs	CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1360-1362)cafs		cell division cycle 27							30.0	30.0	30.0					17																	45219612		2201	4295	6496	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219612delA	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1361delT	17.37:g.45219612delA	ENSP00000066544:p.Leu454fs					CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs	p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			11	1454	-			454					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.1361delT	CCDS11509.1																																																																																				0.308	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			11	42						11	42	---	---	---	---
PDE4C	5143	broad.mit.edu	37	19	18337154	18337154	+	Intron	DEL	G	G	-			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr19:18337154delG	ENST00000355502.3	-	6	1114				PDE4C_ENST00000262805.12_Frame_Shift_Del_p.P24fs|PDE4C_ENST00000594465.3_Intron|PDE4C_ENST00000447275.3_5'Flank|PDE4C_ENST00000594617.3_Intron			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific						cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	TGAAGAGCCCGGGGGAGCCGC	0.741																																						ENST00000262805.11																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(70-72)ccfs		phosphodiesterase 4C, cAMP-specific	Dyphylline(DB00651)						3.0	4.0	4.0					19																	18337154		1564	3595	5159	SO:0001627	intron_variant	5143				signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr19:18337154delG		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.243-4021C>-	19.37:g.18337154delG						PDE4C_ENST00000594465.2_Intron|PDE4C_ENST00000594617.2_Intron|PDE4C_ENST00000355502.3_Intron	p.P24fs	NM_001098818.2	NP_001092288.1	Q08493	PDE4C_HUMAN			1	131	-			433					B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Frame_Shift_Del	DEL	ENST00000355502.3	37	c.72delC	CCDS12373.1																																																																																				0.741	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			2	4						2	4	---	---	---	---
FBL	2091	broad.mit.edu	37	19	40331409	40331409	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr19:40331409delC	ENST00000221801.3	-	2	142	c.29delG	c.(28-30)ggtfs	p.G11fs	FBL_ENST00000593503.1_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	11	DMA/Gly-rich.				histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		GCCAAAGCCACCCCCACGGGG	0.607																																						ENST00000221801.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9						c.(28-30)gtfs		fibrillarin							13.0	16.0	15.0					19																	40331409		2181	4262	6443	SO:0001589	frameshift_variant	2091				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding	g.chr19:40331409delC	AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.29delG	19.37:g.40331409delC	ENSP00000221801:p.Gly11fs						p.G11fs	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)	2	142	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	11			DMA/Gly-rich.		B5BUE8|O75259|Q6IAT5|Q9UPI6	Frame_Shift_Del	DEL	ENST00000221801.3	37	c.29delG	CCDS12545.1																																																																																				0.607	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	NM_001436		2	4						2	4	---	---	---	---
