#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
DMXL2	23312	broad.mit.edu	37	15	51855614	51855614	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr15:51855614C>T	ENST00000251076.5	-	6	818	c.531G>A	c.(529-531)tgG>tgA	p.W177*	DMXL2_ENST00000543779.2_Nonsense_Mutation_p.W177*|DMXL2_ENST00000449909.3_Nonsense_Mutation_p.W177*|DMXL2_ENST00000560421.1_5'UTR	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	177						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.W177*(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CATCAGGAGACCATTCCATCA	0.308																																						ENST00000251076.5																			1	Substitution - Nonsense(1)	p.W177*(1)	prostate(1)	breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(529-531)tgG>tgA		Dmx-like 2							70.0	67.0	68.0					15																	51855614		2195	4291	6486	SO:0001587	stop_gained	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51855614C>T	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.531G>A	15.37:g.51855614C>T	ENSP00000251076:p.Trp177*					DMXL2_ENST00000449909.3_Nonsense_Mutation_p.W177*|DMXL2_ENST00000543779.2_Nonsense_Mutation_p.W177*|DMXL2_ENST00000560421.1_5'UTR	p.W177*	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	6	818	-			177					B2RTR3|B7ZMH3|F5GWF1|O94938	Nonsense_Mutation	SNP	ENST00000251076.5	37	c.531G>A	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	36	5.597826	0.96602	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	18.8915	0.92406	0.0:1.0:0.0:0.0	.	.	.	.	X	177	.	ENSP00000251076:W177X	W	-	3	0	DMXL2	49642906	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.512000	0.60469	2.796000	0.96246	0.585000	0.79938	TGG		0.308	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		3	72	0	0	0	1	0	3	72				
MYO1F	4542	broad.mit.edu	37	19	8604860	8604860	+	Missense_Mutation	SNP	G	G	A	rs375221696		TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr19:8604860G>A	ENST00000338257.8	-	16	1930	c.1663C>T	c.(1663-1665)Cgc>Tgc	p.R555C		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	555	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R555C(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GTGCTGGGGCGCCCCTTCTTG	0.637																																						ENST00000338257.8																			1	Substitution - Missense(1)	p.R555C(1)	prostate(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						c.(1663-1665)Cgc>Tgc		myosin IF		G	CYS/ARG	0,3806		0,0,1903	38.0	42.0	41.0		1663	5.0	1.0	19		41	1,8225		0,1,4112	no	missense	MYO1F	NM_012335.3	180	0,1,6015	AA,AG,GG		0.0122,0.0,0.0083	probably-damaging	555/1099	8604860	1,12031	1903	4113	6016	SO:0001583	missense	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8604860G>A	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.1663C>T	19.37:g.8604860G>A	ENSP00000344871:p.Arg555Cys						p.R555C	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN			16	1930	-			555			Myosin head-like.		Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	c.1663C>T	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951645	0.73787	0.0	1.22E-4	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.88046	-2.33	5.01	5.01	0.66863	Myosin head, motor domain (2);	0.000000	0.64402	D	0.000001	D	0.96266	0.8782	H	0.98426	4.23	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.98113	1.0421	10	0.87932	D	0	.	16.8874	0.86079	0.0:0.0:1.0:0.0	.	555	O00160	MYO1F_HUMAN	C	600;555	ENSP00000344871:R555C	ENSP00000304899:R600C	R	-	1	0	MYO1F	8510860	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.412000	0.59787	2.335000	0.79485	0.591000	0.81541	CGC		0.637	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			20	46	0	0	0	1	0	20	46				
KLHL9	55958	broad.mit.edu	37	9	21333237	21333237	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr9:21333237G>A	ENST00000359039.4	-	1	2142	c.1622C>T	c.(1621-1623)gCc>gTc	p.A541V	KLHL9_ENST00000537938.1_Missense_Mutation_p.A473V			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	541					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		TTCAAAGACGGCAACTCCAAC	0.398																																						ENST00000359039.4																			0				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32						c.(1621-1623)gCc>gTc		kelch-like family member 9							169.0	167.0	168.0					9																	21333237		2203	4300	6503	SO:0001583	missense	55958				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody		g.chr9:21333237G>A	AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"""Kelch-like"", ""BTB/POZ domain containing"""	18732	protein-coding gene	gene with protein product		611201	"""kelch-like 9 (Drosophila)"""				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.1622C>T	9.37:g.21333237G>A	ENSP00000351933:p.Ala541Val					KLHL9_ENST00000537938.1_Missense_Mutation_p.A473V	p.A541V			Q9P2J3	KLHL9_HUMAN		Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)	1	2142	-			541					Q8TCQ2	Missense_Mutation	SNP	ENST00000359039.4	37	c.1622C>T	CCDS6503.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174520	0.78452	.	.	ENSG00000198642	ENST00000359039;ENST00000537938	T;T	0.76839	-1.05;-1.05	4.97	4.97	0.65823	Galactose oxidase, beta-propeller (1);	0.120451	0.56097	D	0.000040	D	0.82618	0.5076	L	0.52011	1.625	0.80722	D	1	D	0.59767	0.986	D	0.62955	0.909	T	0.79022	-0.1973	10	0.22109	T	0.4	.	16.1095	0.81250	0.0:0.0:1.0:0.0	.	541	Q9P2J3	KLHL9_HUMAN	V	541;473	ENSP00000351933:A541V;ENSP00000437733:A473V	ENSP00000351933:A541V	A	-	2	0	KLHL9	21323237	1.000000	0.71417	0.970000	0.41538	0.991000	0.79684	9.764000	0.98949	2.472000	0.83506	0.655000	0.94253	GCC		0.398	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2	NM_018847		5	275	0	0	0	1	0	5	275				
NAA25	80018	broad.mit.edu	37	12	112516059	112516059	+	Silent	SNP	A	A	G			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr12:112516059A>G	ENST00000261745.4	-	7	845	c.597T>C	c.(595-597)taT>taC	p.Y199Y		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	199						cytoplasm (GO:0005737)		p.Y199Y(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GGATCATATAATAAAGTTCAA	0.299																																						ENST00000261745.4																			1	Substitution - coding silent(1)	p.Y199Y(1)	prostate(1)	autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						c.(595-597)taT>taC		N(alpha)-acetyltransferase 25, NatB auxiliary subunit							54.0	57.0	56.0					12																	112516059		2202	4296	6498	SO:0001819	synonymous_variant	80018					cytoplasm	protein binding	g.chr12:112516059A>G	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.597T>C	12.37:g.112516059A>G							p.Y199Y	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN			7	845	-			199					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Silent	SNP	ENST00000261745.4	37	c.597T>C	CCDS9159.1																																																																																				0.299	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		7	163	0	0	0	1	0	7	163				
MAS1L	116511	broad.mit.edu	37	6	29454710	29454710	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr6:29454710T>C	ENST00000377127.3	-	1	1028	c.970A>G	c.(970-972)Agg>Ggg	p.R324G		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	324					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R324G(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						TCCTTCAGCCTTTTCTTTCTG	0.463																																					NSCLC(153;755 1987 3859 11251 32945)	ENST00000377127.3																			1	Substitution - Missense(1)	p.R324G(1)	prostate(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						c.(970-972)Agg>Ggg		MAS1 oncogene-like							94.0	100.0	98.0					6																	29454710		2203	4300	6503	SO:0001583	missense	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29454710T>C	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.970A>G	6.37:g.29454710T>C	ENSP00000366331:p.Arg324Gly						p.R324G	NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN			1	1028	-			324					Q5SUN5	Missense_Mutation	SNP	ENST00000377127.3	37	c.970A>G	CCDS4661.1	.	.	.	.	.	.	.	.	.	.	T	7.400	0.632554	0.14322	.	.	ENSG00000204687	ENST00000377127	T	0.37584	1.19	2.36	-0.36	0.12568	.	.	.	.	.	T	0.14527	0.0351	L	0.39633	1.23	0.09310	N	1	B	0.29378	0.243	B	0.36845	0.234	T	0.38134	-0.9675	9	0.56958	D	0.05	.	8.1955	0.31394	0.0:0.0:0.4246:0.5754	.	324	P35410	MAS1L_HUMAN	G	324	ENSP00000366331:R324G	ENSP00000366331:R324G	R	-	1	2	MAS1L	29562689	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.995000	0.03712	-0.236000	0.09753	-0.612000	0.04053	AGG		0.463	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		5	220	0	0	0	1	0	5	220				
DMBT1	1755	broad.mit.edu	37	10	124358388	124358388	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr10:124358388G>A	ENST00000338354.3	+	26	3161	c.3055G>A	c.(3055-3057)Gat>Aat	p.D1019N	DMBT1_ENST00000368909.3_Missense_Mutation_p.D1019N|DMBT1_ENST00000344338.3_Missense_Mutation_p.D1009N|DMBT1_ENST00000330163.4_Missense_Mutation_p.D520N|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.D520N|DMBT1_ENST00000368955.3_Missense_Mutation_p.D1009N			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1019	SRCR 8. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.D1019N(3)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CACCGTGTGCGATGACAGCTG	0.602																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			3	Substitution - Missense(3)	p.D1019N(3)	prostate(3)	breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(3055-3057)Gat>Aat		deleted in malignant brain tumors 1							313.0	308.0	310.0					10																	124358388		2038	4212	6250	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124358388G>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.3055G>A	10.37:g.124358388G>A	ENSP00000342210:p.Asp1019Asn					DMBT1_ENST00000330163.4_Missense_Mutation_p.D520N|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.D520N|DMBT1_ENST00000368955.3_Missense_Mutation_p.D1009N|DMBT1_ENST00000344338.3_Missense_Mutation_p.D1009N|DMBT1_ENST00000368909.3_Missense_Mutation_p.D1019N	p.D1019N			Q9UGM3	DMBT1_HUMAN			26	3161	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1019			SRCR 8.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.3055G>A		.	.	.	.	.	.	.	.	.	.	G	20.7	4.042049	0.75732	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33	3.57	3.57	0.40892	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.731959	0.11540	N	0.553844	T	0.68109	0.2965	M	0.90705	3.14	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.923;0.998;0.999;1.0	T	0.73279	-0.4033	10	0.66056	D	0.02	.	15.6089	0.76699	0.0:0.0:1.0:0.0	.	1019;520;1009;1019	Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;DMBT1_HUMAN	N	1019;1019;1019;1019;1019;1019;520;1009;520;520;1019;1009;520	ENSP00000342210:D1019N;ENSP00000343175:D1009N;ENSP00000327747:D520N;ENSP00000357905:D1019N;ENSP00000357951:D1009N;ENSP00000357952:D520N	ENSP00000331522:D520N	D	+	1	0	DMBT1	124348378	1.000000	0.71417	0.937000	0.37676	0.480000	0.33159	7.392000	0.79840	1.716000	0.51395	0.558000	0.71614	GAT		0.602	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		219	349	0	0	0	1	0	219	349				
NKAPL	222698	broad.mit.edu	37	6	28227527	28227527	+	Silent	SNP	G	G	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr6:28227527G>A	ENST00000343684.3	+	1	430	c.378G>A	c.(376-378)gaG>gaA	p.E126E	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	126								p.E126E(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						AGGAGAGAGAGAGGATTGGGG	0.542																																						ENST00000343684.3																			1	Substitution - coding silent(1)	p.E126E(1)	prostate(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(376-378)gaG>gaA		NFKB activating protein-like							91.0	97.0	95.0					6																	28227527		2203	4300	6503	SO:0001819	synonymous_variant	222698							g.chr6:28227527G>A	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.378G>A	6.37:g.28227527G>A							p.E126E	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN			1	430	+			126					Q3MIV1|Q9H4Q7	Silent	SNP	ENST00000343684.3	37	c.378G>A	CCDS34353.1																																																																																				0.542	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			38	73	0	0	0	1	0	38	73				
FOLH1	2346	broad.mit.edu	37	11	49168464	49168464	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr11:49168464C>G	ENST00000256999.2	-	19	2357	c.2097G>C	c.(2095-2097)aaG>aaC	p.K699N	FOLH1_ENST00000340334.7_Missense_Mutation_p.K684N|FOLH1_ENST00000356696.3_Missense_Mutation_p.K668N|FOLH1_ENST00000343844.4_Missense_Mutation_p.K391N|FOLH1_ENST00000533034.1_Missense_Mutation_p.K653N	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	699	Substrate binding.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	CCCCTGCATACTTGTTGTGGC	0.428																																						ENST00000340334.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60						c.(2050-2052)aaG>aaC		folate hydrolase (prostate-specific membrane antigen) 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						116.0	113.0	114.0					11																	49168464		2200	4278	6478	SO:0001583	missense	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49168464C>G	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.2097G>C	11.37:g.49168464C>G	ENSP00000256999:p.Lys699Asn					FOLH1_ENST00000343844.4_Missense_Mutation_p.K391N|FOLH1_ENST00000356696.3_Missense_Mutation_p.K668N|FOLH1_ENST00000533034.1_Missense_Mutation_p.K653N|FOLH1_ENST00000256999.2_Missense_Mutation_p.K699N	p.K684N	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN			20	2420	-			699					A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.2052G>C	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981238	0.53827	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	3.26	0.534	0.17127	Transferrin receptor-like, dimerisation domain (3);	0.000000	0.47093	U	0.000256	T	0.48607	0.1509	M	0.80746	2.51	0.58432	D	0.999992	D;D;P;D	0.89917	1.0;1.0;0.86;1.0	D;D;B;D	0.87578	0.996;0.994;0.43;0.998	T	0.40156	-0.9578	10	0.30854	T	0.27	.	6.6491	0.22951	0.0:0.6398:0.0:0.3602	.	653;684;668;699	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	N	699;668;684;391;653	ENSP00000256999:K699N;ENSP00000349129:K668N;ENSP00000344131:K684N;ENSP00000344086:K391N;ENSP00000431463:K653N	ENSP00000256999:K699N	K	-	3	2	FOLH1	49125040	0.986000	0.35501	0.989000	0.46669	0.987000	0.75469	0.137000	0.15995	0.214000	0.20742	0.609000	0.83330	AAG		0.428	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		4	205	0	0	0	1	0	4	205				
TACC2	10579	broad.mit.edu	37	10	123954657	123954657	+	Silent	SNP	C	C	T	rs138045107	byFrequency	TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr10:123954657C>T	ENST00000369005.1	+	8	6277	c.5937C>T	c.(5935-5937)ccC>ccT	p.P1979P	TACC2_ENST00000513429.1_Silent_p.P125P|TACC2_ENST00000334433.3_Silent_p.P1979P|TACC2_ENST00000358010.1_Silent_p.P125P|TACC2_ENST00000360561.3_Silent_p.P57P|TACC2_ENST00000453444.2_Silent_p.P1983P|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000515603.1_Silent_p.P1934P|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000260733.3_Silent_p.P57P|TACC2_ENST00000515273.1_Silent_p.P1983P|TACC2_ENST00000493951.1_3'UTR|TACC2_ENST00000369004.3_Silent_p.P57P|TACC2_ENST00000368999.1_Silent_p.P57P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1979	Pro-rich.				astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)	p.P1979P(2)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TCCCAGAACCCGAGGTCAGCA	0.622																																						ENST00000369005.1																			2	Substitution - coding silent(2)	p.P1979P(2)	prostate(2)	NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(5935-5937)ccC>ccT		transforming, acidic coiled-coil containing protein 2		C	,,,	0,4406		0,0,2203	51.0	57.0	55.0		171,171,375,5937	-9.2	0.0	10	dbSNP_134	55	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TACC2	NM_006997.2,NM_206860.1,NM_206861.1,NM_206862.2	,,,	0,6,6497	TT,TC,CC		0.0698,0.0,0.0461	,,,	57/1027,57/997,125/1095,1979/2949	123954657	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123954657C>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.5937C>T	10.37:g.123954657C>T						TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000260733.3_Silent_p.P57P|TACC2_ENST00000493951.1_3'UTR|TACC2_ENST00000360561.3_Silent_p.P57P|TACC2_ENST00000515603.1_Silent_p.P1934P|TACC2_ENST00000358010.1_Silent_p.P125P|TACC2_ENST00000513429.1_Silent_p.P125P|TACC2_ENST00000368999.1_Silent_p.P57P|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000369004.3_Silent_p.P57P|TACC2_ENST00000453444.2_Silent_p.P1983P|TACC2_ENST00000515273.1_Silent_p.P1983P|TACC2_ENST00000334433.3_Silent_p.P1979P	p.P1979P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			8	6277	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	1979			Pro-rich.		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.5937C>T	CCDS7626.1																																																																																				0.622	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			26	53	0	0	0	1	0	26	53				
STS	412	broad.mit.edu	37	X	7223203	7223203	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chrX:7223203G>A	ENST00000217961.4	+	7	1295	c.1075G>A	c.(1075-1077)Gga>Aga	p.G359R		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	359					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)	p.G359R(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	AATTCATGGCGGAAGTAATGG	0.458									Ichthyosis																													ENST00000217961.4																			1	Substitution - Missense(1)	p.G359R(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27						c.(1075-1077)Gga>Aga		steroid sulfatase (microsomal), isozyme S	Estrone(DB00655)						102.0	89.0	94.0					X																	7223203		2203	4299	6502	SO:0001583	missense	412	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity	g.chrX:7223203G>A	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"""Arylsulfatase family"""	11425	protein-coding gene	gene with protein product	"""arylsulfatase C"""	300747	"""steroid sulfatase (microsomal), arylsulfatase C, isozyme S"""	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.1075G>A	X.37:g.7223203G>A	ENSP00000217961:p.Gly359Arg						p.G359R	NM_000351.4	NP_000342.2	P08842	STS_HUMAN			7	1295	+		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	359					B2RA47	Missense_Mutation	SNP	ENST00000217961.4	37	c.1075G>A	CCDS14127.1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.069319	0.36470	.	.	ENSG00000101846	ENST00000217961	D	0.94537	-3.45	3.39	3.39	0.38822	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.97062	0.9040	M	0.88704	2.975	0.42409	D	0.992597	D	0.89917	1.0	D	0.91635	0.999	D	0.97050	0.9763	10	0.66056	D	0.02	.	10.0635	0.42288	0.0:0.0:1.0:0.0	.	359	P08842	STS_HUMAN	R	359	ENSP00000217961:G359R	ENSP00000217961:G359R	G	+	1	0	STS	7233203	1.000000	0.71417	0.363000	0.25875	0.368000	0.29767	5.739000	0.68622	1.461000	0.47929	0.513000	0.50165	GGA		0.458	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1	NM_000351		3	70	0	0	0	1	0	3	70				
PRSS58	136541	broad.mit.edu	37	7	141955370	141955370	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr7:141955370G>A	ENST00000552471.1	-	2	483	c.164C>T	c.(163-165)gCa>gTa	p.A55V	PRSS58_ENST00000547058.2_Missense_Mutation_p.A55V			Q8IYP2	PRS58_HUMAN	protease, serine, 58	55	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.A55V(2)		kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						ATTGCAGTGTGCAGCTGTGAT	0.522																																						ENST00000552471.1																			2	Substitution - Missense(2)	p.A55V(2)	prostate(2)	kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						c.(163-165)gCa>gTa		protease, serine, 58							80.0	78.0	78.0					7																	141955370		2203	4300	6503	SO:0001583	missense	136541				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141955370G>A		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.164C>T	7.37:g.141955370G>A	ENSP00000446916:p.Ala55Val					PRSS58_ENST00000547058.2_Missense_Mutation_p.A55V	p.A55V			Q8IYP2	PRS58_HUMAN			2	483	-			55			Peptidase S1.		B3KVJ6|D3DXD2	Missense_Mutation	SNP	ENST00000552471.1	37	c.164C>T	CCDS5871.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.837103	0.91117	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	D;D	0.89746	-2.56;-2.56	5.19	5.19	0.71726	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.96796	0.8954	H	0.98446	4.235	0.44515	D	0.99746	D	0.89917	1.0	D	0.81914	0.995	D	0.98048	1.0386	9	0.87932	D	0	.	16.2693	0.82607	0.0:0.0:1.0:0.0	.	55	Q8IYP2	PRS58_HUMAN	V	55	ENSP00000447588:A55V;ENSP00000446916:A55V	ENSP00000307206:A55V	A	-	2	0	PRSS58	141601847	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	5.874000	0.69652	2.711000	0.92665	0.655000	0.94253	GCA		0.522	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317		33	78	0	0	0	1	0	33	78				
SLC26A2	1836	broad.mit.edu	37	5	149360521	149360521	+	Silent	SNP	T	T	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr5:149360521T>A	ENST00000286298.4	+	3	1633	c.1365T>A	c.(1363-1365)ctT>ctA	p.L455L		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	455					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.L455L(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ATACTCAGCTTTCTGGTGTGG	0.418																																						ENST00000286298.4																			1	Substitution - coding silent(1)	p.L455L(1)	prostate(1)	NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18						c.(1363-1365)ctT>ctA		solute carrier family 26 (anion exchanger), member 2							105.0	103.0	104.0					5																	149360521		2203	4300	6503	SO:0001819	synonymous_variant	1836					integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity	g.chr5:149360521T>A	U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"""Solute carriers"""	10994	protein-coding gene	gene with protein product		606718	"""solute carrier family 26 (sulfate transporter), member 2"""	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.1365T>A	5.37:g.149360521T>A							p.L455L	NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		3	1633	+			455					A8K2U3|B2R6J1|Q6N051	Silent	SNP	ENST00000286298.4	37	c.1365T>A	CCDS4300.1																																																																																				0.418	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112		39	92	0	0	0	1	0	39	92				
SIGLEC12	89858	broad.mit.edu	37	19	52003566	52003566	+	Intron	SNP	C	C	T	rs542113322		TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr19:52003566C>T	ENST00000291707.3	-	2	483				SIGLEC12_ENST00000598614.1_Missense_Mutation_p.R21H	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGTGGAGAAACGAGGGTCAGC	0.607													N|||	1	0.000199681	0.0	0.0	5008	,	,		17928	0.0		0.0	False		,,,				2504	0.001					ENST00000598614.1																			0				NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61						c.(61-63)cGt>cAt		sialic acid binding Ig-like lectin 12 (gene/pseudogene)							54.0	49.0	51.0					19																	52003566		2203	4300	6503	SO:0001627	intron_variant	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:52003566C>T	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.428-12G>A	19.37:g.52003566C>T						SIGLEC12_ENST00000291707.3_Intron	p.R21H	NM_033329.1	NP_201586.1	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	1	61	-		all_neural(266;0.0199)	0			Ig-like V-type 1.		Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	c.62G>A	CCDS12833.1																																																																																				0.607	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		16	38	0	0	0	1	0	16	38				
FMN2	56776	broad.mit.edu	37	1	240371601	240371601	+	Silent	SNP	C	C	T			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr1:240371601C>T	ENST00000319653.9	+	5	3719	c.3489C>T	c.(3487-3489)ccC>ccT	p.P1163P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1163	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.P1306P(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGGGCATACCCCCACCTCCCC	0.692																																						ENST00000319653.9																			1	Substitution - coding silent(1)	p.P1306P(1)	prostate(1)	NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3487-3489)ccC>ccT		formin 2							4.0	5.0	4.0					1																	240371601		1915	3859	5774	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371601C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3489C>T	1.37:g.240371601C>T							p.P1163P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3719	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1163			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.3489C>T	CCDS31069.2																																																																																				0.692	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		2	1	0	0	0	1	0	2	1				
LAMA4	3910	broad.mit.edu	37	6	112486397	112486397	+	Missense_Mutation	SNP	G	G	A	rs138153075	byFrequency	TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr6:112486397G>A	ENST00000230538.7	-	13	2030	c.1633C>T	c.(1633-1635)Cgt>Tgt	p.R545C	LAMA4_ENST00000389463.4_Missense_Mutation_p.R538C|LAMA4_ENST00000424408.2_Missense_Mutation_p.R538C|RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000522006.1_Missense_Mutation_p.R538C	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	545	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.R538C(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AGAGTTAGACGAGGTGTTGTC	0.448													G|||	4	0.000798722	0.0	0.0014	5008	,	,		18440	0.0		0.003	False		,,,				2504	0.0					ENST00000230538.7																			1	Substitution - Missense(1)	p.R538C(1)	prostate(1)	NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(1633-1635)Cgt>Tgt		laminin, alpha 4		G	CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	168.0	151.0	157.0		1633,1612,1612	3.2	0.0	6	dbSNP_134	157	20,8580	14.6+/-50.1	0,20,4280	yes	missense,missense,missense	LAMA4	NM_001105206.1,NM_001105207.1,NM_002290.3	180,180,180	0,21,6482	AA,AG,GG		0.2326,0.0227,0.1615	probably-damaging,probably-damaging,probably-damaging	545/1824,538/1817,538/1817	112486397	21,12985	2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112486397G>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1633C>T	6.37:g.112486397G>A	ENSP00000230538:p.Arg545Cys					LAMA4_ENST00000424408.2_Missense_Mutation_p.R538C|RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000522006.1_Missense_Mutation_p.R538C|LAMA4_ENST00000389463.4_Missense_Mutation_p.R538C	p.R545C	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	13	2030	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	545			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.1633C>T	CCDS43491.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	G	14.73	2.621999	0.46840	2.27E-4	0.002326	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	5.04	3.2	0.36748	Laminin I (1);	0.777141	0.12440	N	0.468761	T	0.06234	0.0161	L	0.47716	1.5	0.09310	N	0.999992	D;D	0.61697	0.99;0.987	P;P	0.51101	0.659;0.528	T	0.25916	-1.0118	10	0.49607	T	0.09	.	6.0957	0.20019	0.097:0.0:0.7175:0.1855	.	545;538	Q16363;Q16363-2	LAMA4_HUMAN;.	C	545;538;538;538	ENSP00000230538:R545C;ENSP00000429488:R538C;ENSP00000374114:R538C;ENSP00000416470:R538C	ENSP00000230538:R545C	R	-	1	0	LAMA4	112593090	0.978000	0.34361	0.008000	0.14137	0.010000	0.07245	2.799000	0.47892	0.487000	0.27698	0.484000	0.47621	CGT		0.448	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		35	83	0	0	0	1	0	35	83				
PPARGC1B	133522	broad.mit.edu	37	5	149212486	149212486	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr5:149212486A>T	ENST00000309241.5	+	5	882	c.850A>T	c.(850-852)Atg>Ttg	p.M284L	PPARGC1B_ENST00000360453.4_Missense_Mutation_p.M245L|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.M220L|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.M284L	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	284					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)	p.M284L(2)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCAGGAAGACATGCAGGCGAT	0.672																																						ENST00000309241.5																			2	Substitution - Missense(2)	p.M284L(2)	prostate(2)	NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(850-852)Atg>Ttg		peroxisome proliferator-activated receptor gamma, coactivator 1 beta							47.0	57.0	53.0					5																	149212486		2203	4300	6503	SO:0001583	missense	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149212486A>T	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.850A>T	5.37:g.149212486A>T	ENSP00000312649:p.Met284Leu					PPARGC1B_ENST00000403750.1_Missense_Mutation_p.M220L|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.M284L|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.M245L	p.M284L	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		5	882	+			284					A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	37	c.850A>T	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	A	3.681	-0.065610	0.07273	.	.	ENSG00000155846	ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750	T;T;T;T	0.06768	3.26;3.28;3.29;3.26	5.76	3.5	0.40072	.	0.365715	0.29861	N	0.011016	T	0.04543	0.0124	L	0.27053	0.805	0.20563	N	0.99989	B;B;B;B;B	0.10296	0.001;0.003;0.001;0.001;0.003	B;B;B;B;B	0.09377	0.002;0.003;0.004;0.001;0.002	T	0.45702	-0.9243	10	0.07813	T	0.8	-3.4708	4.7279	0.12950	0.5455:0.2237:0.2308:0.0	.	263;263;245;284;284	Q86YN6-2;Q86YN6-4;Q86YN6-5;Q86YN6;Q86YN6-3	.;.;.;PRGC2_HUMAN;.	L	245;284;284;220	ENSP00000353638:M245L;ENSP00000377855:M284L;ENSP00000312649:M284L;ENSP00000384403:M220L	ENSP00000312649:M284L	M	+	1	0	PPARGC1B	149192679	0.769000	0.28531	1.000000	0.80357	0.371000	0.29859	-0.081000	0.11321	0.495000	0.27882	0.533000	0.62120	ATG		0.672	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		31	87	0	0	0	1	0	31	87				
FBN1	2200	broad.mit.edu	37	15	48736776	48736776	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr15:48736776C>A	ENST00000316623.5	-	49	6454	c.5999G>T	c.(5998-6000)tGc>tTc	p.C2000F		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2000	EGF-like 34; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.C2000F(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCCAGGTGGGCAAATGCATCT	0.433																																						ENST00000316623.5																			1	Substitution - Missense(1)	p.C2000F(1)	prostate(1)	NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139	GRCh37	CM077270	FBN1	M		c.(5998-6000)tGc>tTc		fibrillin 1							159.0	146.0	150.0					15																	48736776		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48736776C>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.5999G>T	15.37:g.48736776C>A	ENSP00000325527:p.Cys2000Phe						p.C2000F	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	49	6454	-		all_lung(180;0.00279)	2000			EGF-like 34; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.5999G>T	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011800	0.93346	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.99319	-5.74	6.07	6.07	0.98685	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99536	0.9834	H	0.99312	4.51	0.80722	D	1	P	0.50369	0.934	P	0.47206	0.541	D	0.98521	1.0623	10	0.87932	D	0	.	20.2544	0.98414	0.0:1.0:0.0:0.0	.	2000	P35555	FBN1_HUMAN	F	2000;568;890	ENSP00000325527:C2000F	ENSP00000325527:C2000F	C	-	2	0	FBN1	46524068	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.349000	0.79376	2.885000	0.99019	0.655000	0.94253	TGC		0.433	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			58	118	1	0	6.3237e-29	1	6.8296e-29	58	118				
BCRP7	100133163	broad.mit.edu	37	22	18846025	18846025	+	3'UTR	SNP	G	G	C	rs5993363		TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr22:18846025G>C	ENST00000412938.1	+	0	3383																											GACGTTGAAGGCTGCCTTCAG	0.647																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846025G>C																												ENST00000412938.1:c.*3380G>C	22.37:g.18846025G>C														0	3383	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.647	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			3	56	0	0	0	1	0	3	56				
SLC9A1	6548	broad.mit.edu	37	1	27480528	27480528	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr1:27480528G>A	ENST00000263980.3	-	1	873	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	SLC9A1_ENST00000545949.1_5'UTR|SLC9A1_ENST00000374086.3_Missense_Mutation_p.R100C	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	100					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)	p.R100C(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	AAGGGGGTGCGCACGTGTGTG	0.592																																						ENST00000263980.3																			1	Substitution - Missense(1)	p.R100C(1)	prostate(1)	central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(298-300)Cgc>Tgc		solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	Amiloride(DB00594)						95.0	100.0	98.0					1																	27480528		2203	4300	6503	SO:0001583	missense	6548				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity	g.chr1:27480528G>A	M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"""Solute carriers"""	11071	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 143"""	107310	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 1"""	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.298C>T	1.37:g.27480528G>A	ENSP00000263980:p.Arg100Cys					SLC9A1_ENST00000374086.3_Missense_Mutation_p.R100C|SLC9A1_ENST00000545949.1_5'UTR	p.R100C	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	1	873	-			100					B1ALD6|D3DPL4|Q96EM2	Missense_Mutation	SNP	ENST00000263980.3	37	c.298C>T	CCDS295.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550593	0.86127	.	.	ENSG00000090020	ENST00000263980;ENST00000374086;ENST00000374084	T;T;T	0.42900	0.96;0.96;0.96	4.9	4.9	0.64082	.	0.278543	0.34580	N	0.003853	T	0.50735	0.1633	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;0.977	P;B	0.62298	0.9;0.339	T	0.52495	-0.8568	10	0.87932	D	0	.	13.452	0.61176	0.0:0.0:1.0:0.0	.	100;100	P19634-2;P19634	.;SL9A1_HUMAN	C	100	ENSP00000263980:R100C;ENSP00000363199:R100C;ENSP00000363197:R100C	ENSP00000263980:R100C	R	-	1	0	SLC9A1	27353115	1.000000	0.71417	0.992000	0.48379	0.934000	0.57294	5.672000	0.68102	2.564000	0.86499	0.655000	0.94253	CGC		0.592	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012336.2	NM_003047		4	134	0	0	0	1	0	4	134				
OR4C13	283092	broad.mit.edu	37	11	49974537	49974537	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr11:49974537C>T	ENST00000555099.1	+	1	595	c.563C>T	c.(562-564)aCt>aTt	p.T188I		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T188I(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CTTGCCTGCACTAATACCCAC	0.438																																						ENST00000555099.1																			1	Substitution - Missense(1)	p.T188I(1)	prostate(1)	autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						c.(562-564)aCt>aTt		olfactory receptor, family 4, subfamily C, member 13							228.0	202.0	211.0					11																	49974537		2201	4296	6497	SO:0001583	missense	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974537C>T	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.563C>T	11.37:g.49974537C>T	ENSP00000452277:p.Thr188Ile						p.T188I	NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN			1	595	+			188					A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	ENST00000555099.1	37	c.563C>T	CCDS31495.1	.	.	.	.	.	.	.	.	.	.	.	3.627	-0.076422	0.07184	.	.	ENSG00000258817	ENST00000555099	T	0.00164	8.64	2.7	1.76	0.24704	GPCR, rhodopsin-like superfamily (1);	0.683159	0.12817	N	0.436747	T	0.00144	0.0004	L	0.48218	1.51	0.24075	N	0.995968	B	0.20550	0.046	B	0.32022	0.139	T	0.22103	-1.0226	9	.	.	.	.	2.8707	0.05616	0.2778:0.5648:0.0:0.1574	.	188	Q8NGP0	OR4CD_HUMAN	I	188	ENSP00000452277:T188I	.	T	+	2	0	OR4C13	49931113	0.000000	0.05858	0.996000	0.52242	0.076000	0.17211	-0.097000	0.11042	1.524000	0.49035	0.186000	0.17326	ACT		0.438	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		73	202	0	0	0	1	0	73	202				
LILRB1	10859	broad.mit.edu	37	19	55148263	55148263	+	Silent	SNP	T	T	G			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr19:55148263T>G	ENST00000396331.1	+	16	2244	c.1887T>G	c.(1885-1887)ccT>ccG	p.P629P	LILRB1_ENST00000396332.4_Silent_p.P630P|LILRB1_ENST00000448689.1_3'UTR|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000434867.2_Silent_p.P629P|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000427581.2_Silent_p.P680P|LILRB1_ENST00000418536.2_Silent_p.P613P|LILRB1_ENST00000396321.2_Silent_p.P629P|LILRB1_ENST00000396315.1_Silent_p.P631P|LILRB1_ENST00000396317.1_Silent_p.P613P|LILRB1_ENST00000324602.7_Silent_p.P631P|LILRB1_ENST00000396327.3_Silent_p.P630P	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	629					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAACTGAGCCTCCTCCATCCC	0.652										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(1885-1887)ccT>ccG		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							99.0	85.0	90.0					19																	55148263		2203	4300	6503	SO:0001819	synonymous_variant	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55148263T>G	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1887T>G	19.37:g.55148263T>G		HNSCC(37;0.09)				LILRB1_ENST00000324602.7_Silent_p.P631P|LILRB1_ENST00000396327.3_Silent_p.P630P|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000427581.2_Silent_p.P680P|LILRB1_ENST00000396332.4_Silent_p.P630P|LILRB1_ENST00000434867.2_Silent_p.P629P|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000418536.2_Silent_p.P613P|LILRB1_ENST00000396315.1_Silent_p.P631P|LILRB1_ENST00000396321.2_Silent_p.P629P|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000396317.1_Silent_p.P613P	p.P629P	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	16	2244	+			629					A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Silent	SNP	ENST00000396331.1	37	c.1887T>G	CCDS42617.1																																																																																				0.652	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			4	65	0	0	0	1	0	4	65				
MYO7A	4647	broad.mit.edu	37	11	76868351	76868351	+	Silent	SNP	G	G	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr11:76868351G>A	ENST00000409709.3	+	8	1034	c.762G>A	c.(760-762)gtG>gtA	p.V254V	MYO7A_ENST00000458637.2_Silent_p.V254V|MYO7A_ENST00000409893.1_Silent_p.V254V|MYO7A_ENST00000409619.2_Silent_p.V243V	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	254	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)	p.V254V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACTACCACGTGTTCTACTGCA	0.582																																						ENST00000409709.3																			1	Substitution - coding silent(1)	p.V254V(1)	prostate(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(760-762)gtG>gtA		myosin VIIA							74.0	83.0	80.0					11																	76868351		1960	4132	6092	SO:0001819	synonymous_variant	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76868351G>A	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.762G>A	11.37:g.76868351G>A						MYO7A_ENST00000458637.2_Silent_p.V254V|MYO7A_ENST00000409893.1_Silent_p.V254V|MYO7A_ENST00000409619.2_Silent_p.V243V	p.V254V	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			8	1034	+			254			Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	37	c.762G>A	CCDS53683.1																																																																																				0.582	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		11	14	0	0	0	1	0	11	14				
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C	rs371810308	byFrequency	TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284													.|||	3	0.000599042	0.0	0.0	5008	,	,		16953	0.003		0.0	False		,,,				2504	0.0					ENST00000358970.5																			2	Substitution - Missense(2)	p.K507E(2)	urinary_tract(1)|prostate(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1519-1521)Aaa>Gaa		POTE ankyrin domain family, member C							164.0	115.0	130.0					18																	14513675		692	1590	2282	SO:0001583	missense	388468							g.chr18:14513675T>C	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1519A>G	18.37:g.14513675T>C	ENSP00000351856:p.Lys507Glu						p.K507E	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1518	-			507						Missense_Mutation	SNP	ENST00000358970.5	37	c.1519A>G	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.812128	0.00004	.	.	ENSG00000183206	ENST00000358970	T	0.32753	1.44	1.53	-3.07	0.05363	.	.	.	.	.	T	0.10165	0.0249	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	9	0.02654	T	1	.	3.0168	0.06063	0.0:0.3604:0.2511:0.3885	.	507	B2RU33	POTEC_HUMAN	E	507	ENSP00000351856:K507E	ENSP00000351856:K507E	K	-	1	0	POTEC	14503675	0.024000	0.19004	0.012000	0.15200	0.024000	0.10985	-0.021000	0.12504	-1.054000	0.03214	-3.018000	0.00074	AAA		0.284	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		3	110	0	0	0	1	0	3	110				
TFB2M	64216	broad.mit.edu	37	1	246729332	246729332	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr1:246729332G>A	ENST00000366514.4	-	1	294	c.109C>T	c.(109-111)Ccg>Tcg	p.P37S	CNST_ENST00000366512.3_5'Flank|TFB2M_ENST00000544618.1_Missense_Mutation_p.P37S|CNST_ENST00000366513.4_5'Flank	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	37					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)|transcription cofactor activity (GO:0003712)	p.P37S(1)		breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			TTCCTCGCCGGCAAATGCTTT	0.627																																						ENST00000366514.4																			1	Substitution - Missense(1)	p.P37S(1)	prostate(1)	breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(109-111)Ccg>Tcg		transcription factor B2, mitochondrial							46.0	52.0	50.0					1																	246729332		2203	4300	6503	SO:0001583	missense	64216				positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity	g.chr1:246729332G>A	AK026835	CCDS1627.1	1q44	2008-02-05			ENSG00000162851	ENSG00000162851			18559	protein-coding gene	gene with protein product		607055					Standard	NM_022366		Approved	FLJ23182, FLJ22661, Hkp1	uc001ibn.3	Q9H5Q4	OTTHUMG00000040091	ENST00000366514.4:c.109C>T	1.37:g.246729332G>A	ENSP00000355471:p.Pro37Ser					TFB2M_ENST00000544618.1_Missense_Mutation_p.P37S	p.P37S	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00358)		1	294	-	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		37					Q9H626	Missense_Mutation	SNP	ENST00000366514.4	37	c.109C>T	CCDS1627.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.549825	0.27652	.	.	ENSG00000162851	ENST00000366514;ENST00000544618	T	0.29142	1.58	3.92	-2.16	0.07080	.	1.010880	0.07950	N	0.980702	T	0.17152	0.0412	N	0.19112	0.55	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.28870	-1.0030	10	0.29301	T	0.29	0.4463	7.2537	0.26164	0.1764:0.3447:0.4789:0.0	.	37	Q9H5Q4	TFB2M_HUMAN	S	37	ENSP00000355471:P37S	ENSP00000355471:P37S	P	-	1	0	TFB2M	244795955	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-0.118000	0.10692	-0.390000	0.07774	0.462000	0.41574	CCG		0.627	TFB2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096673.1	NM_022366		4	101	0	0	0	1	0	4	101				
SLC6A11	6538	broad.mit.edu	37	3	10967711	10967711	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr3:10967711C>T	ENST00000254488.2	+	9	1208	c.1142C>T	c.(1141-1143)gCg>gTg	p.A381V		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	381					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	GCCTTTATTGCGTACCCCAAG	0.567																																						ENST00000254488.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35						c.(1141-1143)gCg>gTg		solute carrier family 6 (neurotransmitter transporter), member 11							238.0	247.0	244.0					3																	10967711		2203	4300	6503	SO:0001583	missense	6538				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:10967711C>T	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1142C>T	3.37:g.10967711C>T	ENSP00000254488:p.Ala381Val						p.A381V	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.229)	9	1208	+			381					B2R6U6|Q8IYC9	Missense_Mutation	SNP	ENST00000254488.2	37	c.1142C>T	CCDS2602.1	.	.	.	.	.	.	.	.	.	.	C	33	5.228062	0.95173	.	.	ENSG00000132164	ENST00000254488	T	0.73789	-0.78	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.78916	0.4359	L	0.36672	1.1	0.80722	D	1	D	0.55172	0.97	P	0.60949	0.881	T	0.75622	-0.3254	10	0.27082	T	0.32	.	18.7333	0.91744	0.0:1.0:0.0:0.0	.	381	P48066	S6A11_HUMAN	V	381	ENSP00000254488:A381V	ENSP00000254488:A381V	A	+	2	0	SLC6A11	10942711	1.000000	0.71417	0.954000	0.39281	0.929000	0.56500	7.639000	0.83342	2.419000	0.82065	0.561000	0.74099	GCG		0.567	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		6	473	0	0	0	1	0	6	473				
ST6GALNAC2	10610	broad.mit.edu	37	17	74562331	74562331	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr17:74562331G>A	ENST00000225276.5	-	9	1299	c.980C>T	c.(979-981)aCa>aTa	p.T327I		NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	327					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)	p.T327I(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						GTAGTTGCTTGTGATGAATCC	0.448																																						ENST00000225276.5																			1	Substitution - Missense(1)	p.T327I(1)	prostate(1)	NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						c.(979-981)aCa>aTa		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2							159.0	146.0	151.0					17																	74562331		2203	4300	6503	SO:0001583	missense	10610				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr17:74562331G>A	U14550	CCDS11747.1	17q25.1	2013-03-01	2003-12-05	2005-02-07	ENSG00000070731	ENSG00000070731	2.4.99.7	"""Sialyltransferases"""	10867	protein-coding gene	gene with protein product		610137	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)"", ""sialyltransferase-like 1"""	SIAT7, SIAT7B, SIATL1		11984005	Standard	NM_006456		Approved	ST6GalNAII, STHM	uc002jsg.4	Q9UJ37	OTTHUMG00000180301	ENST00000225276.5:c.980C>T	17.37:g.74562331G>A	ENSP00000225276:p.Thr327Ile						p.T327I	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN			9	1299	-			327					Q12971	Missense_Mutation	SNP	ENST00000225276.5	37	c.980C>T	CCDS11747.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530261	0.85706	.	.	ENSG00000070731	ENST00000225276	T	0.30714	1.52	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.66436	0.2789	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74659	-0.3591	10	0.62326	D	0.03	-12.8339	18.0627	0.89382	0.0:0.0:1.0:0.0	.	327	Q9UJ37	SIA7B_HUMAN	I	327	ENSP00000225276:T327I	ENSP00000225276:T327I	T	-	2	0	ST6GALNAC2	72073926	1.000000	0.71417	0.961000	0.40146	0.841000	0.47740	8.622000	0.90953	2.562000	0.86427	0.655000	0.94253	ACA		0.448	ST6GALNAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450650.1	NM_006456		78	155	0	0	0	1	0	78	155				
CAD	790	broad.mit.edu	37	2	27457443	27457443	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr2:27457443G>A	ENST00000403525.1	+	22	3631	c.3487G>A	c.(3487-3489)Gtt>Att	p.V1163I	CAD_ENST00000264705.4_Missense_Mutation_p.V1226I			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.V1226I(2)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCCCCTTCGTTTCCAAGAC	0.552																																						ENST00000264705.4																			2	Substitution - Missense(2)	p.V1226I(2)	prostate(2)	NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(3676-3678)Gtt>Att		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						211.0	185.0	194.0					2																	27457443		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27457443G>A	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.3487G>A	2.37:g.27457443G>A	ENSP00000384510:p.Val1163Ile					CAD_ENST00000403525.1_Missense_Mutation_p.V1163I	p.V1226I	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			23	3838	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1226			ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.3676G>A		.	.	.	.	.	.	.	.	.	.	G	18.29	3.591398	0.66219	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.97016	-4.21;-4.21	5.55	5.55	0.83447	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.051300	0.85682	D	0.000000	D	0.94321	0.8175	L	0.46567	1.45	0.80722	D	1	P;P	0.38504	0.489;0.634	B;B	0.36030	0.216;0.143	D	0.93928	0.7212	10	0.46703	T	0.11	0.1882	18.424	0.90602	0.0:0.0:1.0:0.0	.	1163;1226	F8VPD4;P27708	.;PYR1_HUMAN	I	1226;1163	ENSP00000264705:V1226I;ENSP00000384510:V1163I	ENSP00000264705:V1226I	V	+	1	0	CAD	27310947	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	7.263000	0.78421	2.767000	0.95098	0.655000	0.94253	GTT		0.552	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			48	99	0	0	0	1	0	48	99				
SNX29	92017	broad.mit.edu	37	16	12136839	12136839	+	Silent	SNP	C	C	T	rs371965178		TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr16:12136839C>T	ENST00000566228.1	+	5	402	c.333C>T	c.(331-333)gaC>gaT	p.D111D	SNX29_ENST00000568359.1_3'UTR	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	111	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)	p.D111D(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						TCGCCTCAGACGTGGGCCGGG	0.652																																						ENST00000566228.1																			1	Substitution - coding silent(1)	p.D111D(1)	prostate(1)	endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						c.(331-333)gaC>gaT		sorting nexin 29		C		1,4393	2.1+/-5.4	0,1,2196	42.0	35.0	37.0		333	-1.1	1.0	16		37	0,8600		0,0,4300	no	coding-synonymous	SNX29	NM_032167.3		0,1,6496	TT,TC,CC		0.0,0.0228,0.0077		111/376	12136839	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	92017				cell communication		phosphatidylinositol binding	g.chr16:12136839C>T	AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.333C>T	16.37:g.12136839C>T						SNX29_ENST00000568359.1_3'UTR	p.D111D	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN			5	402	+			0					B5MDW2|Q8N2X2|Q9HA26	Silent	SNP	ENST00000566228.1	37	c.333C>T	CCDS10553.2																																																																																				0.652	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			3	34	0	0	0	1	0	3	34				
ASTN1	460	broad.mit.edu	37	1	177001717	177001717	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr1:177001717G>C	ENST00000367654.3	-	3	951	c.740C>G	c.(739-741)aCt>aGt	p.T247S	ASTN1_ENST00000361833.2_Missense_Mutation_p.T247S|ASTN1_ENST00000367657.3_Missense_Mutation_p.T247S|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.T247S	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	247					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.T247S(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCGCAGATCAGTGATGTCATA	0.622																																						ENST00000367654.2																			1	Substitution - Missense(1)	p.T247S(1)	prostate(1)	NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(739-741)aCt>aGt		astrotactin 1							155.0	112.0	127.0					1																	177001717		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:177001717G>C	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.740C>G	1.37:g.177001717G>C	ENSP00000356626:p.Thr247Ser					ASTN1_ENST00000424564.2_Missense_Mutation_p.T247S|ASTN1_ENST00000367657.3_Missense_Mutation_p.T247S|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.T247S	p.T247S			O14525	ASTN1_HUMAN			3	753	-			247					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.740C>G		.	.	.	.	.	.	.	.	.	.	G	18.06	3.538728	0.65085	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.14516	2.5;2.91;2.91;2.5	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.25158	0.0611	N	0.24115	0.695	0.80722	D	1	D;D;D	0.71674	0.998;0.974;0.974	D;D;D	0.76071	0.987;0.969;0.969	T	0.03524	-1.1028	10	0.24483	T	0.36	-11.234	19.2616	0.93970	0.0:0.0:1.0:0.0	.	247;247;247	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	S	247	ENSP00000356629:T247S;ENSP00000354536:T247S;ENSP00000356626:T247S;ENSP00000395041:T247S	ENSP00000354536:T247S	T	-	2	0	ASTN1	175268340	1.000000	0.71417	0.957000	0.39632	0.979000	0.70002	9.021000	0.93673	2.614000	0.88457	0.655000	0.94253	ACT		0.622	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		18	106	0	0	0	1	0	18	106				
USH2A	7399	broad.mit.edu	37	1	216371806	216371806	+	Missense_Mutation	SNP	G	G	A	rs79279902		TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr1:216371806G>A	ENST00000307340.3	-	18	4318	c.3932C>T	c.(3931-3933)tCg>tTg	p.S1311L	USH2A_ENST00000366942.3_Missense_Mutation_p.S1311L|RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.S1311L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1311	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.S1311L(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTCATTGGCCGATTCTACAAA	0.413										HNSCC(13;0.011)																												ENST00000366943.2																			1	Substitution - Missense(1)	p.S1311L(1)	prostate(1)	NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527	GRCh37	CM080597	USH2A	M	rs79279902	c.(3931-3933)tCg>tTg		Usher syndrome 2A (autosomal recessive, mild)							138.0	128.0	131.0					1																	216371806		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216371806G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3932C>T	1.37:g.216371806G>A	ENSP00000305941:p.Ser1311Leu	HNSCC(13;0.011)				RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Missense_Mutation_p.S1311L|USH2A_ENST00000307340.3_Missense_Mutation_p.S1311L	p.S1311L			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	18	4318	-			1311			Fibronectin type-III 3.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.3932C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.633313	0.87660	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.57436	0.4;0.4;0.4	5.69	4.78	0.61160	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.38111	N	0.001814	T	0.68778	0.3038	M	0.83603	2.65	0.46927	D	0.999253	D;D	0.64830	0.994;0.994	P;P	0.57371	0.765;0.819	T	0.70525	-0.4848	10	0.31617	T	0.26	.	14.5332	0.67942	0.0704:0.0:0.9296:0.0	.	1311;1311	O75445-2;O75445	.;USH2A_HUMAN	L	1311	ENSP00000305941:S1311L;ENSP00000355910:S1311L;ENSP00000355909:S1311L	ENSP00000305941:S1311L	S	-	2	0	USH2A	214438429	1.000000	0.71417	0.154000	0.22540	0.871000	0.50021	4.141000	0.58038	1.399000	0.46721	0.650000	0.86243	TCG		0.413	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		53	121	0	0	0	1	0	53	121				
VWF	7450	broad.mit.edu	37	12	6172165	6172165	+	Silent	SNP	C	C	T			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr12:6172165C>T	ENST00000261405.5	-	13	1742	c.1488G>A	c.(1486-1488)gaG>gaA	p.E496E		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	496	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.E496E(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCTGCAGGTCCTCCCCGTAGC	0.657											OREG0021618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261405.5																			1	Substitution - coding silent(1)	p.E496E(1)	prostate(1)	NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(1486-1488)gaG>gaA		von Willebrand factor	Antihemophilic Factor(DB00025)						55.0	45.0	48.0					12																	6172165		2203	4300	6503	SO:0001819	synonymous_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6172165C>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.1488G>A	12.37:g.6172165C>T			OREG0021618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	632		p.E496E	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			13	1742	-			496			VWFD 2.		Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	c.1488G>A	CCDS8539.1																																																																																				0.657	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		8	21	0	0	0	1	0	8	21				
WNT2	7472	broad.mit.edu	37	7	116937778	116937778	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr7:116937778G>C	ENST00000265441.3	-	4	1040	c.741C>G	c.(739-741)aaC>aaG	p.N247K		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	247					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)	p.N247K(1)		breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TGCCATCCTGGTTCATGACCA	0.498																																						ENST00000265441.3																			1	Substitution - Missense(1)	p.N247K(1)	prostate(1)	breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31						c.(739-741)aaC>aaG		wingless-type MMTV integration site family member 2							110.0	99.0	103.0					7																	116937778		2203	4300	6503	SO:0001583	missense	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116937778G>C	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12780	protein-coding gene	gene with protein product	"""secreted growth factor"""	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.741C>G	7.37:g.116937778G>C	ENSP00000265441:p.Asn247Lys						p.N247K	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	4	1040	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		247					A4D0V1|Q75N05|Q9UDP9	Missense_Mutation	SNP	ENST00000265441.3	37	c.741C>G	CCDS5771.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.597133	0.46318	.	.	ENSG00000105989	ENST00000265441	T	0.74842	-0.88	5.58	1.16	0.20824	.	0.085891	0.85682	N	0.000000	T	0.58764	0.2145	L	0.39514	1.22	0.51012	D	0.999909	B;B	0.25048	0.117;0.117	B;B	0.24006	0.05;0.05	T	0.49799	-0.8901	10	0.44086	T	0.13	.	4.1182	0.10092	0.3382:0.0:0.4969:0.1648	.	247;247	A4D0V1;P09544	.;WNT2_HUMAN	K	247	ENSP00000265441:N247K	ENSP00000265441:N247K	N	-	3	2	WNT2	116725014	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.903000	0.39858	0.398000	0.25338	0.561000	0.74099	AAC		0.498	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		61	120	0	0	0	1	0	61	120				
GZMA	3001	broad.mit.edu	37	5	54405924	54405924	+	Missense_Mutation	SNP	G	G	A	rs374808018		TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr5:54405924G>A	ENST00000274306.6	+	5	738	c.703G>A	c.(703-705)Gga>Aga	p.G235R		NM_006144.3	NP_006135	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	235	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|immune response (GO:0006955)|negative regulation of DNA binding (GO:0043392)|negative regulation of endodeoxyribonuclease activity (GO:0032078)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of apoptotic process (GO:0043065)|proteolysis involved in cellular protein catabolic process (GO:0051603)	extracellular region (GO:0005576)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.G235R(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				AAATAAATGCGGAGACCCTCG	0.468																																						ENST00000274306.6																			1	Substitution - Missense(1)	p.G235R(1)	prostate(1)	NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(703-705)Gga>Aga		granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)		G	ARG/GLY	0,4406		0,0,2203	98.0	98.0	98.0		703	5.5	0.3	5		98	1,8599	1.2+/-3.3	0,1,4299	no	missense	GZMA	NM_006144.3	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	235/263	54405924	1,13005	2203	4300	6503	SO:0001583	missense	3001				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity	g.chr5:54405924G>A		CCDS3965.1	5q11-q12	2008-07-18			ENSG00000145649	ENSG00000145649			4708	protein-coding gene	gene with protein product	"""CTL tryptase"", ""Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; Hanukah factor serine protease)"""	140050		HFSP, CTLA3		3262682, 3533635	Standard	NM_006144		Approved		uc003jpm.3	P12544	OTTHUMG00000097011	ENST00000274306.6:c.703G>A	5.37:g.54405924G>A	ENSP00000274306:p.Gly235Arg						p.G235R	NM_006144.3	NP_006135.1	P12544	GRAA_HUMAN			5	738	+		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)	235			Peptidase S1.		A4PHN1|Q6IB36	Missense_Mutation	SNP	ENST00000274306.6	37	c.703G>A	CCDS3965.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595708	0.66219	0.0	1.16E-4	ENSG00000145649	ENST00000274306	D	0.89196	-2.48	5.52	5.52	0.82312	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.95802	0.8634	M	0.93420	3.415	0.34342	D	0.688909	D	0.89917	1.0	D	0.91635	0.999	D	0.99537	1.0962	10	0.87932	D	0	.	15.1806	0.72956	0.0:0.0:0.8586:0.1414	.	235	P12544	GRAA_HUMAN	R	235	ENSP00000274306:G235R	ENSP00000274306:G235R	G	+	1	0	GZMA	54441681	1.000000	0.71417	0.324000	0.25361	0.050000	0.14768	5.639000	0.67868	2.873000	0.98535	0.563000	0.77884	GGA		0.468	GZMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214100.2	NM_006144		35	106	0	0	0	1	0	35	106				
MTUS2	23281	broad.mit.edu	37	13	29600584	29600584	+	Silent	SNP	G	G	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr13:29600584G>A	ENST00000431530.3	+	1	1837	c.1779G>A	c.(1777-1779)acG>acA	p.T593T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	583						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.T593T(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TGTTGAACACGTCCCCCAAAG	0.552																																						ENST00000431530.3																			2	Substitution - coding silent(2)	p.T593T(2)	prostate(1)|endometrium(1)	NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(1777-1779)acG>acA		microtubule associated tumor suppressor candidate 2							69.0	73.0	72.0					13																	29600584		1980	4159	6139	SO:0001819	synonymous_variant	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29600584G>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1779G>A	13.37:g.29600584G>A							p.T593T	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	1837	+			583					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000431530.3	37	c.1779G>A	CCDS45022.1																																																																																				0.552	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		22	68	0	0	0	1	0	22	68				
CACNA2D4	93589	broad.mit.edu	37	12	1988135	1988135	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr12:1988135G>A	ENST00000382722.5	-	15	1993	c.1631C>T	c.(1630-1632)gCg>gTg	p.A544V	CACNA2D4_ENST00000586184.1_Missense_Mutation_p.A544V|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.A429V|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.A480V|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.A544V|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.A480V	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	544	Cache.				calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.A544V(2)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GTACCGGGGCGCCAGCTTCAT	0.622																																					Colon(2;101 179 21030 23310 28141)	ENST00000382722.5																			2	Substitution - Missense(2)	p.A544V(2)	prostate(2)	endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(1630-1632)gCg>gTg		calcium channel, voltage-dependent, alpha 2/delta subunit 4							38.0	45.0	43.0					12																	1988135		2021	4181	6202	SO:0001583	missense	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:1988135G>A	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.1631C>T	12.37:g.1988135G>A	ENSP00000372169:p.Ala544Val					CACNA2D4_ENST00000585732.1_Missense_Mutation_p.A429V|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.A480V|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.A480V|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.A544V|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.A544V	p.A544V	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	15	1993	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	544			Cache.		Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	c.1631C>T	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.263247	0.23051	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.05649	3.41	5.08	4.19	0.49359	Cache (1);	0.098319	0.64402	N	0.000001	T	0.06645	0.0170	N	0.02721	-0.515	0.58432	D	0.999998	P;D	0.89917	0.764;1.0	B;D	0.76071	0.095;0.987	T	0.34204	-0.9838	10	0.02654	T	1	.	13.4077	0.60924	0.0759:0.0:0.9241:0.0	.	544;544	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	V	480;544;544	ENSP00000372169:A544V	ENSP00000280663:A544V	A	-	2	0	CACNA2D4	1858396	1.000000	0.71417	0.991000	0.47740	0.435000	0.31806	6.795000	0.75140	1.145000	0.42336	0.655000	0.94253	GCG		0.622	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			8	24	0	0	0	1	0	8	24				
GABRB2	2561	broad.mit.edu	37	5	160886675	160886675	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr5:160886675C>T	ENST00000393959.1	-	4	412	c.413G>A	c.(412-414)cGc>cAc	p.R138H	GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000517901.1_Missense_Mutation_p.R75H|GABRB2_ENST00000274547.2_Missense_Mutation_p.R138H|GABRB2_ENST00000353437.6_Missense_Mutation_p.R138H|GABRB2_ENST00000520240.1_Missense_Mutation_p.R138H			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	138					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GCGAATCATGCGGTTCTTAAC	0.448																																						ENST00000274547.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(412-414)cGc>cAc		gamma-aminobutyric acid (GABA) A receptor, beta 2	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						104.0	95.0	98.0					5																	160886675		2203	4300	6503	SO:0001583	missense	0				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160886675C>T		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.413G>A	5.37:g.160886675C>T	ENSP00000377531:p.Arg138His					GABRB2_ENST00000517901.1_Missense_Mutation_p.R75H|GABRB2_ENST00000520240.1_Missense_Mutation_p.R138H|GABRB2_ENST00000353437.6_Missense_Mutation_p.R138H|GABRB2_ENST00000393959.1_Missense_Mutation_p.R138H|GABRB2_ENST00000517547.1_Intron	p.R138H	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		5	630	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	138					A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	c.413G>A	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	C	34	5.364320	0.95877	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901	T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26	4.97	4.97	0.65823	Neurotransmitter-gated ion-channel ligand-binding (3);	0.102623	0.64402	D	0.000008	D	0.86875	0.6038	M	0.62209	1.925	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.80764	0.994;0.973;0.977;0.979	D	0.88229	0.2902	10	0.87932	D	0	.	18.6117	0.91288	0.0:1.0:0.0:0.0	.	138;75;138;138	B7Z4P0;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	H	138;138;138;138;75	ENSP00000377531:R138H;ENSP00000274547:R138H;ENSP00000274546:R138H;ENSP00000429320:R138H;ENSP00000430532:R75H	ENSP00000274547:R138H	R	-	2	0	GABRB2	160819253	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.650000	0.83521	2.455000	0.83008	0.655000	0.94253	CGC		0.448	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			3	46	0	0	0	1	0	3	46				
SPTA1	6708	broad.mit.edu	37	1	158626393	158626393	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr1:158626393G>C	ENST00000368147.4	-	20	3039	c.2859C>G	c.(2857-2859)gaC>gaG	p.D953E		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	953					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.D953E(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTTCATACTGTCTCCAAATG	0.413																																						ENST00000368148.3																			1	Substitution - Missense(1)	p.D953E(1)	prostate(1)	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(2857-2859)gaC>gaG		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							169.0	172.0	171.0					1																	158626393		1854	4088	5942	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158626393G>C	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2859C>G	1.37:g.158626393G>C	ENSP00000357129:p.Asp953Glu					SPTA1_ENST00000368147.3_Missense_Mutation_p.D953E	p.D953E	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			20	3039	-	all_hematologic(112;0.0378)		953					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2859C>G	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292039	0.40594	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.64618	-0.11;-0.11	5.5	-0.31	0.12765	.	0.230977	0.22077	N	0.064944	T	0.12987	0.0315	N	0.11560	0.145	0.28159	N	0.929082	B	0.10296	0.003	B	0.19946	0.027	T	0.32719	-0.9896	10	0.08599	T	0.76	.	6.082	0.19946	0.1474:0.0:0.4682:0.3844	.	953	P02549	SPTA1_HUMAN	E	953	ENSP00000357130:D953E;ENSP00000357129:D953E	ENSP00000357129:D953E	D	-	3	2	SPTA1	156893017	0.999000	0.42202	0.874000	0.34290	0.622000	0.37654	0.345000	0.19979	-0.191000	0.10448	-0.274000	0.10170	GAC		0.413	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		71	181	0	0	0	1	0	71	181				
C10orf71	118461	broad.mit.edu	37	10	50531524	50531524	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr10:50531524C>A	ENST00000374144.3	+	3	1222	c.934C>A	c.(934-936)Cta>Ata	p.L312I	C10orf71_ENST00000323868.4_Missense_Mutation_p.L312I			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	312								p.L312I(2)		endometrium(1)	1						CACGACCTTGCTAAGAGAACC	0.577																																						ENST00000374144.3																			2	Substitution - Missense(2)	p.L312I(2)	prostate(2)	endometrium(1)	1						c.(934-936)Cta>Ata		chromosome 10 open reading frame 71							68.0	76.0	74.0					10																	50531524		2055	4201	6256	SO:0001583	missense	118461							g.chr10:50531524C>A	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.934C>A	10.37:g.50531524C>A	ENSP00000363259:p.Leu312Ile					C10orf71_ENST00000323868.4_Missense_Mutation_p.L312I	p.L312I			Q711Q0	CJ071_HUMAN			3	1222	+			312					A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	c.934C>A	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	C	7.549	0.662270	0.14645	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.16457	2.34;3.46	5.25	-5.58	0.02512	.	0.756374	0.10602	N	0.655547	T	0.11196	0.0273	L	0.59436	1.845	0.09310	N	1	B	0.32753	0.383	B	0.28849	0.095	T	0.19192	-1.0313	10	0.23302	T	0.38	.	3.587	0.07974	0.0891:0.1827:0.2653:0.4628	.	312	Q711Q0-3	.	I	312	ENSP00000318713:L312I;ENSP00000363259:L312I	ENSP00000318713:L312I	L	+	1	2	C10orf71	50201530	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.901000	0.01597	-1.284000	0.02390	-0.258000	0.10820	CTA		0.577	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		3	65	1	0	0.115264	1	0.115264	3	65				
USP22	23326	broad.mit.edu	37	17	20910262	20910262	+	Silent	SNP	G	G	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr17:20910262G>A	ENST00000261497.4	-	10	1472	c.1269C>T	c.(1267-1269)acC>acT	p.T423T	USP22_ENST00000455117.2_Intron|USP22_ENST00000537526.2_Silent_p.T411T	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	423	USP.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|embryo development (GO:0009790)|histone deubiquitination (GO:0016578)|histone H4 acetylation (GO:0043967)|histone ubiquitination (GO:0016574)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deubiquitination (GO:0016579)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	SAGA complex (GO:0000124)	enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|transcription coactivator activity (GO:0003713)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.T645T(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						ACACATACGTGGTGATCTTCC	0.547																																						ENST00000261497.4																			1	Substitution - coding silent(1)	p.T645T(1)	prostate(1)	endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						c.(1267-1269)acC>acT		ubiquitin specific peptidase 22							40.0	42.0	42.0					17																	20910262		1942	4144	6086	SO:0001819	synonymous_variant	23326				cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr17:20910262G>A	AB028986	CCDS42285.1	17p11.2	2006-11-24	2005-08-08		ENSG00000124422	ENSG00000124422		"""Ubiquitin-specific peptidases"""	12621	protein-coding gene	gene with protein product		612116	"""ubiquitin specific protease 22"", ""ubiquitin specific peptidase 3-like"""	USP3L		12838346	Standard	NM_015276		Approved	KIAA1063	uc002gym.4	Q9UPT9	OTTHUMG00000133621	ENST00000261497.4:c.1269C>T	17.37:g.20910262G>A						USP22_ENST00000537526.2_Silent_p.T411T|USP22_ENST00000455117.2_Intron	p.T423T	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN			10	1472	-			423					A0JNS3|Q2NLE2|Q6MZY4|Q8TBS8|Q96IW5	Silent	SNP	ENST00000261497.4	37	c.1269C>T	CCDS42285.1																																																																																				0.547	USP22-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444169.1			4	25	0	0	0	1	0	4	25				
UQCRC1	7384	broad.mit.edu	37	3	48638151	48638151	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr3:48638151C>T	ENST00000203407.5	-	9	1505	c.1089G>A	c.(1087-1089)atG>atA	p.M363I		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	363					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to alkaloid (GO:0043279)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)	p.M363I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CATCGATTTTCATTCGGTCAC	0.542																																					NSCLC(81;1112 1427 27031 32409 45529)	ENST00000203407.5																			1	Substitution - Missense(1)	p.M363I(1)	prostate(1)	breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16						c.(1087-1089)atG>atA		ubiquinol-cytochrome c reductase core protein I	Atovaquone(DB01117)						111.0	98.0	102.0					3																	48638151		2203	4300	6503	SO:0001583	missense	7384				aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding	g.chr3:48638151C>T	BC009586	CCDS2774.1	3p21	2011-07-04			ENSG00000010256	ENSG00000010256	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12585	protein-coding gene	gene with protein product		191328				8407948	Standard	NM_003365		Approved	D3S3191, QCR1, UQCR1	uc003cub.1	P31930	OTTHUMG00000133539	ENST00000203407.5:c.1089G>A	3.37:g.48638151C>T	ENSP00000203407:p.Met363Ile						p.M363I	NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	9	1505	-			363					B2R7R8|Q96DD2	Missense_Mutation	SNP	ENST00000203407.5	37	c.1089G>A	CCDS2774.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830253	0.32329	.	.	ENSG00000010256	ENST00000203407	T	0.28895	1.59	5.72	5.72	0.89469	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.180517	0.64402	D	0.000015	T	0.31949	0.0813	L	0.53617	1.68	0.31040	N	0.71647	B;B	0.16603	0.01;0.018	B;B	0.21360	0.034;0.008	T	0.17806	-1.0357	10	0.33141	T	0.24	-44.8454	15.3694	0.74551	0.0:0.8611:0.1389:0.0	.	248;363	B4DUL5;P31930	.;QCR1_HUMAN	I	363	ENSP00000203407:M363I	ENSP00000203407:M363I	M	-	3	0	UQCRC1	48613155	0.989000	0.36119	0.874000	0.34290	0.851000	0.48451	2.474000	0.45154	2.709000	0.92574	0.561000	0.74099	ATG		0.542	UQCRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257517.1	NM_003365		14	92	0	0	0	1	0	14	92				
GUCY2C	2984	broad.mit.edu	37	12	14822664	14822664	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr12:14822664G>T	ENST00000261170.3	-	10	1410	c.1274C>A	c.(1273-1275)aCa>aAa	p.T425K	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	425					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	ACCCCGGCCTGTAATATCATT	0.383																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(1273-1275)aCa>aAa		guanylate cyclase 2C (heat stable enterotoxin receptor)							106.0	103.0	104.0					12																	14822664		2203	4300	6503	SO:0001583	missense	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14822664G>T		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1274C>A	12.37:g.14822664G>T	ENSP00000261170:p.Thr425Lys					RP11-174G6.1_ENST00000501178.2_RNA	p.T425K	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			10	1410	-			425					B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	c.1274C>A	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651291	0.47362	.	.	ENSG00000070019	ENST00000261170	T	0.80393	-1.37	5.4	3.44	0.39384	.	0.248053	0.48286	D	0.000193	T	0.63117	0.2484	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.12837	0.008	T	0.59989	-0.7350	10	0.72032	D	0.01	.	11.3791	0.49746	0.0:0.0:0.6763:0.3237	.	425	P25092	GUC2C_HUMAN	K	425	ENSP00000261170:T425K	ENSP00000261170:T425K	T	-	2	0	GUCY2C	14713931	0.957000	0.32711	0.037000	0.18230	0.772000	0.43724	2.577000	0.46042	1.382000	0.46385	0.655000	0.94253	ACA		0.383	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			4	148	1	0	0.00909568	1	0.0092673	4	148				
PUM1	9698	broad.mit.edu	37	1	31406163	31406163	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr1:31406163delA	ENST00000257075.5	-	22	3549	c.3456delT	c.(3454-3456)cgtfs	p.R1152fs	SNORD103A_ENST00000363284.1_RNA|PUM1_ENST00000440538.2_Frame_Shift_Del_p.R1128fs|PUM1_ENST00000373747.3_Frame_Shift_Del_p.R1155fs|PUM1_ENST00000423018.2_Frame_Shift_Del_p.R1010fs|PUM1_ENST00000426105.2_Frame_Shift_Del_p.R1154fs|PUM1_ENST00000373741.4_Frame_Shift_Del_p.R1190fs|PUM1_ENST00000424085.2_Frame_Shift_Del_p.R910fs|PUM1_ENST00000373742.2_Frame_Shift_Del_p.R1093fs	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	1152	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		AGGTGTACTTACGAAGAGTTG	0.532																																						ENST00000373747.3																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(3463-3465)cgfs		pumilio RNA-binding family member 1							203.0	171.0	182.0					1																	31406163		2203	4300	6503	SO:0001589	frameshift_variant	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31406163delA	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.3456delT	1.37:g.31406163delA	ENSP00000257075:p.Arg1152fs					PUM1_ENST00000440538.2_Frame_Shift_Del_p.R1128fs|PUM1_ENST00000257075.5_Frame_Shift_Del_p.R1152fs|PUM1_ENST00000426105.2_Frame_Shift_Del_p.R1154fs|PUM1_ENST00000424085.2_Frame_Shift_Del_p.R910fs|PUM1_ENST00000423018.2_Frame_Shift_Del_p.R1010fs|PUM1_ENST00000373741.4_Frame_Shift_Del_p.R1190fs|PUM1_ENST00000373742.2_Frame_Shift_Del_p.R1093fs	p.R1155fs	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	22	3564	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	1152			PUM-HD.		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Frame_Shift_Del	DEL	ENST00000257075.5	37	c.3465delT	CCDS338.1																																																																																				0.532	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			68	165						68	165	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152329411	152329415	+	Frame_Shift_Del	DEL	TTGCT	TTGCT	-			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr1:152329411_152329415delTTGCT	ENST00000388718.5	-	3	919_923	c.847_851delAGCAA	c.(847-852)agcaatfs	p.SN283fs	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	283	Ser-rich.				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)			CCCACTTGAATTGCTATAACCACAT	0.429																																						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.(847-852)tfs		filaggrin family member 2																																				SO:0001589	frameshift_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152329411_152329415delTTGCT	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.847_851delAGCAA	1.37:g.152329411_152329415delTTGCT	ENSP00000373370:p.Ser283fs					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.SN283fs	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	919_923	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		283			Ser-rich.		Q9H4U1	Frame_Shift_Del	DEL	ENST00000388718.5	37	c.847_851delAGCAA	CCDS30861.1																																																																																				0.429	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		78	272						78	272	---	---	---	---
LOC728339	728339	broad.mit.edu	37	4	190818970	190818974	+	lincRNA	DEL	AGGAA	AGGAA	-	rs201901087	byFrequency	TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr4:190818970_190818974delAGGAA	ENST00000511785.1	-	0	231																											agggagagcgaggaaaggaaaggaa	0.483														414	0.0826677	0.1664	0.0591	5008	,	,		14862	0.0437		0.0716	False		,,,				2504	0.0378					ENST00000511785.1																			0																																																			0							g.chr4:190818970_190818974delAGGAA																													4.37:g.190818980_190818984delAGGAA														0	231	-									RNA	DEL	ENST00000511785.1	37																																																																																						0.483	AF146191.4-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000361301.1			6	5						6	5	---	---	---	---
RP11-991C1.2	0	broad.mit.edu	37	14	95516588	95516610	+	lincRNA	DEL	GGAAGGAAGGAAGGAAAGAAGAA	GGAAGGAAGGAAGGAAAGAAGAA	-	rs141805851|rs370630614|rs373606592		TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr14:95516588_95516610delGGAAGGAAGGAAGGAAAGAAGAA	ENST00000554033.1	+	0	41																											aagaaggaagggaaggaaggaaggaaagaagaaggaaggaagg	0.448																																						ENST00000554033.1																			0																																																			0							g.chr14:95516588_95516610delGGAAGGAAGGAAGGAAAGAAGAA																													14.37:g.95516588_95516610delGGAAGGAAGGAAGGAAAGAAGAA														0	41	+									RNA	DEL	ENST00000554033.1	37																																																																																						0.448	RP11-991C1.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000414512.1			3	6						3	6	---	---	---	---
LOC101928880	101928880	broad.mit.edu	37	16	88226611	88226611	+	lincRNA	DEL	G	G	-			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr16:88226611delG	ENST00000569362.1	+	0	0				RP11-863P13.2_ENST00000568587.1_lincRNA																							tggtggtgatggtggtgatgg	0.522																																						ENST00000568587.1																			0																																																			0							g.chr16:88226611delG																													16.37:g.88226611delG														0	91	-									RNA	DEL	ENST00000569362.1	37																																																																																						0.522	LA16c-444G7.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000430450.1			3	4						3	4	---	---	---	---
CCDC144A	9720	broad.mit.edu	37	17	16612678	16612678	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr17:16612678delT	ENST00000360524.8	+	5	1383	c.1307delT	c.(1306-1308)gttfs	p.V436fs	CCDC144A_ENST00000443444.2_Frame_Shift_Del_p.V436fs|RP11-219A15.1_ENST00000448331.3_Frame_Shift_Del_p.V436fs|CCDC144A_ENST00000340621.5_Frame_Shift_Del_p.V435fs|CCDC144A_ENST00000399273.1_Frame_Shift_Del_p.V436fs|CCDC144A_ENST00000456009.1_Intron|RN7SL620P_ENST00000580704.1_RNA	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	436																	CCAGAAGTGGTTATGGTTGAA	0.353																																						ENST00000443444.2																			0											c.(1306-1308)gtfs		coiled-coil domain containing 144A							64.0	52.0	56.0					17																	16612678		1808	4057	5865	SO:0001589	frameshift_variant	9720							g.chr17:16612678delT	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.1307delT	17.37:g.16612678delT	ENSP00000353717:p.Val436fs					CCDC144A_ENST00000399273.1_Frame_Shift_Del_p.V436fs|CCDC144A_ENST00000340621.5_Frame_Shift_Del_p.V435fs|CCDC144A_ENST00000360524.8_Frame_Shift_Del_p.V436fs|CCDC144A_ENST00000456009.1_Intron|RP11-219A15.1_ENST00000448331.3_Frame_Shift_Del_p.V436fs	p.V436fs			A2RUR9	C144A_HUMAN			5	1447	+			436					O60311|Q6ZU57	Frame_Shift_Del	DEL	ENST00000360524.8	37	c.1307delT	CCDS45621.1																																																																																				0.353	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			27	47						27	47	---	---	---	---
