#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
PSG7	5676	broad.mit.edu	37	19	43439887	43439887	+	RNA	SNP	T	T	A			TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr19:43439887T>A	ENST00000406070.2	-	0	195				PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				TGACTTGGGCTGTGGTGGGCG	0.493																																						ENST00000406070.2																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							137.0	142.0	141.0					19																	43439887		2202	4300	6502			5676				female pregnancy	extracellular region		g.chr19:43439887T>A			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439887T>A						PSG7_ENST00000446844.3_RNA		NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN			0	195	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.493	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		7	258	0	0	0	1	0	7	258				
REG3A	5068	broad.mit.edu	37	2	79385821	79385821	+	Missense_Mutation	SNP	A	A	T			TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr2:79385821A>T	ENST00000409839.3	-	3	187	c.151T>A	c.(151-153)Tgc>Agc	p.C51S	AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000393878.1_Missense_Mutation_p.C51S|REG3A_ENST00000305165.2_Missense_Mutation_p.C51S	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	51	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						AAGGCATAGCAGTGGGAGCCA	0.577																																						ENST00000393878.1																			0				breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						c.(151-153)Tgc>Agc		regenerating islet-derived 3 alpha							109.0	98.0	102.0					2																	79385821		2203	4300	6503	SO:0001583	missense	5068				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	g.chr2:79385821A>T	S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.151T>A	2.37:g.79385821A>T	ENSP00000386630:p.Cys51Ser					REG3A_ENST00000409839.3_Missense_Mutation_p.C51S|REG3A_ENST00000305165.2_Missense_Mutation_p.C51S|AC011754.1_ENST00000415201.1_RNA	p.C51S	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN			2	405	-			51			C-type lectin.			Missense_Mutation	SNP	ENST00000409839.3	37	c.151T>A	CCDS1965.1	.	.	.	.	.	.	.	.	.	.	A	15.55	2.866600	0.51588	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.32272	1.46;1.46;1.46	3.87	3.87	0.44632	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.000000	0.64402	D	0.000012	T	0.65322	0.2680	H	0.96996	3.92	0.41800	D	0.989916	D	0.89917	1.0	D	0.83275	0.996	T	0.74420	-0.3671	10	0.72032	D	0.01	.	9.3476	0.38118	1.0:0.0:0.0:0.0	.	51	Q06141	REG3A_HUMAN	S	51	ENSP00000386630:C51S;ENSP00000377456:C51S;ENSP00000304311:C51S	ENSP00000304311:C51S	C	-	1	0	REG3A	79239329	1.000000	0.71417	0.948000	0.38648	0.035000	0.12851	3.709000	0.54853	1.980000	0.57719	0.491000	0.48974	TGC		0.577	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2	NM_002580		28	39	0	0	0	1	0	28	39				
AP4M1	9179	broad.mit.edu	37	7	99703909	99703909	+	Silent	SNP	G	G	A			TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr7:99703909G>A	ENST00000359593.4	+	13	1178	c.1020G>A	c.(1018-1020)gtG>gtA	p.V340V	AP4M1_ENST00000429084.1_Silent_p.V347V|AP4M1_ENST00000422582.1_Silent_p.V212V|AP4M1_ENST00000421755.1_Silent_p.V340V	NM_004722.3	NP_004713.2	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	340	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|Golgi trans cisterna (GO:0000138)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTCGAGGGGTGGTCAGGTGAG	0.617																																					Pancreas(174;1182 2812 29595 49511)	ENST00000429084.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17						c.(1039-1041)gtG>gtA		adaptor-related protein complex 4, mu 1 subunit							66.0	53.0	57.0					7																	99703909		2203	4300	6503	SO:0001819	synonymous_variant	9179				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity	g.chr7:99703909G>A	Y08387	CCDS5685.1	7q22.1	2012-06-29			ENSG00000221838	ENSG00000221838			574	protein-coding gene	gene with protein product	"""mu-adaptin-related protein-2"", ""mu subunit of AP-4"", ""AP-4 adapter complex mu subunit"", ""adaptor-related protein complex AP-4 mu4 subunit"""	602296				9013859, 10066790, 21620353	Standard	NM_004722		Approved	MU-ARP2, MU-4, SPG50	uc003utb.4	O00189	OTTHUMG00000154722	ENST00000359593.4:c.1020G>A	7.37:g.99703909G>A						AP4M1_ENST00000421755.1_Silent_p.V340V|AP4M1_ENST00000422582.1_Silent_p.V212V|AP4M1_ENST00000359593.4_Silent_p.V340V	p.V347V			O00189	AP4M1_HUMAN			13	1199	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		340			MHD.		D6W5U1|Q8WV65|Q9UHK9	Silent	SNP	ENST00000359593.4	37	c.1041G>A	CCDS5685.1	.	.	.	.	.	.	.	.	.	.	G	9.163	1.019113	0.19355	.	.	ENSG00000221838	ENST00000445295	.	.	.	4.68	1.66	0.24008	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-17.5612	3.522	0.07745	0.0936:0.3229:0.4286:0.1548	.	.	.	.	X	66	.	.	W	+	2	0	AP4M1	99541845	0.952000	0.32445	1.000000	0.80357	0.849000	0.48306	0.011000	0.13264	0.560000	0.29169	0.561000	0.74099	TGG		0.617	AP4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336772.4	NM_004722		12	21	0	0	0	1	0	12	21				
TSNARE1	203062	broad.mit.edu	37	8	143425445	143425445	+	Silent	SNP	G	G	A			TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr8:143425445G>A	ENST00000307180.3	-	4	744	c.627C>T	c.(625-627)ccC>ccT	p.P209P	TSNARE1_ENST00000524325.1_Silent_p.P209P|TSNARE1_ENST00000520166.1_Silent_p.P209P|TSNARE1_ENST00000519651.1_Intron	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	209					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					AACCAGGGCTGGGGCCATGGG	0.697																																						ENST00000524325.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20						c.(625-627)ccC>ccT		t-SNARE domain containing 1							21.0	24.0	23.0					8																	143425445		2195	4276	6471	SO:0001819	synonymous_variant	203062				vesicle-mediated transport	integral to membrane		g.chr8:143425445G>A			8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.627C>T	8.37:g.143425445G>A						TSNARE1_ENST00000307180.3_Silent_p.P209P|TSNARE1_ENST00000519651.1_Intron|TSNARE1_ENST00000520166.1_Silent_p.P209P	p.P209P			Q96NA8	TSNA1_HUMAN			4	802	-	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		209					B7ZLB0|Q14D03	Silent	SNP	ENST00000307180.3	37	c.627C>T	CCDS6384.1																																																																																				0.697	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003		4	46	0	0	0	1	0	4	46				
LRRC14	9684	broad.mit.edu	37	8	145745726	145745726	+	Missense_Mutation	SNP	G	G	T			TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr8:145745726G>T	ENST00000292524.1	+	3	580	c.434G>T	c.(433-435)cGc>cTc	p.R145L	RECQL4_ENST00000428558.2_5'Flank|RECQL4_ENST00000532237.1_5'Flank|LRRC14_ENST00000529022.1_Missense_Mutation_p.R145L	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	145										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCCGTAGCTCGCACATGCATT	0.657																																						ENST00000292524.1																			0				endometrium(1)|lung(3)|prostate(1)	5						c.(433-435)cGc>cTc		leucine rich repeat containing 14							72.0	77.0	75.0					8																	145745726		2203	4300	6503	SO:0001583	missense	9684							g.chr8:145745726G>T	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.434G>T	8.37:g.145745726G>T	ENSP00000292524:p.Arg145Leu					LRRC14_ENST00000529022.1_Missense_Mutation_p.R145L	p.R145L	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		3	580	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		145					A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	37	c.434G>T	CCDS6432.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.942270	0.34283	.	.	ENSG00000160959	ENST00000527730;ENST00000529022;ENST00000292524;ENST00000525766	T;T;T;T	0.54071	2.11;4.91;4.91;0.59	4.51	3.54	0.40534	.	0.684959	0.13228	N	0.403870	T	0.50377	0.1612	L	0.42245	1.32	0.32260	N	0.570338	D	0.53312	0.959	P	0.51385	0.668	T	0.59423	-0.7457	10	0.59425	D	0.04	.	5.2993	0.15770	0.2294:0.0:0.7706:0.0	.	145	Q15048	LRC14_HUMAN	L	145	ENSP00000436452:R145L;ENSP00000434768:R145L;ENSP00000292524:R145L;ENSP00000434738:R145L	ENSP00000292524:R145L	R	+	2	0	LRRC14	145716534	0.309000	0.24518	0.975000	0.42487	0.101000	0.19017	2.543000	0.45752	2.337000	0.79520	0.462000	0.41574	CGC		0.657	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		15	93	1	0	2.48551e-13	1	2.65692e-13	15	93				
TMEM91	641649	broad.mit.edu	37	19	41889651	41889651	+	Missense_Mutation	SNP	A	A	G			TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr19:41889651A>G	ENST00000392002.2	+	4	1052	c.392A>G	c.(391-393)cAg>cGg	p.Q131R	TMEM91_ENST00000447302.2_Intron|TMEM91_ENST00000356385.4_3'UTR|TMEM91_ENST00000413014.2_Intron|BCKDHA_ENST00000595085.1_Intron|TMEM91_ENST00000542945.1_3'UTR|TMEM91_ENST00000539627.1_3'UTR|TMEM91_ENST00000544232.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron|TMEM91_ENST00000436170.2_Intron|TMEM91_ENST00000604123.1_Intron	NM_001098821.1	NP_001092291.1	Q6ZNR0	TMM91_HUMAN	transmembrane protein 91	131					hematopoietic progenitor cell differentiation (GO:0002244)|response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)				lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						GGGGACATCCAGGGGGCAGGG	0.706																																						ENST00000392002.2																			0				lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						c.(391-393)cAg>cGg		transmembrane protein 91							28.0	33.0	31.0					19																	41889651		2042	4165	6207	SO:0001583	missense	641649							g.chr19:41889651A>G	AK130820, BC063705	CCDS42571.1, CCDS42572.1, CCDS46082.1, CCDS46083.1, CCDS46084.1	19q13.2	2009-10-16							32393	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 6"""					12477932	Standard	NM_001098824		Approved	FLJ27310, IFITMD6		Q6ZNR0		ENST00000392002.2:c.392A>G	19.37:g.41889651A>G	ENSP00000375859:p.Gln131Arg					TMEM91_ENST00000539627.1_3'UTR|CTC-435M10.3_ENST00000540732.1_Intron|TMEM91_ENST00000436170.2_Intron|TMEM91_ENST00000413014.2_Intron|TMEM91_ENST00000356385.4_3'UTR|BCKDHA_ENST00000595085.1_Intron|TMEM91_ENST00000447302.2_Intron|TMEM91_ENST00000544232.1_Intron|TMEM91_ENST00000542945.1_3'UTR|TMEM91_ENST00000604123.1_Intron	p.Q131R	NM_001098821.1	NP_001092291.1					4	1052	+								C9J9D1|C9JZ62|C9K046|Q6P434	Missense_Mutation	SNP	ENST00000392002.2	37	c.392A>G	CCDS42571.1	.	.	.	.	.	.	.	.	.	.	A	13.06	2.123346	0.37436	.	.	ENSG00000142046	ENST00000392002	D	0.85702	-2.02	3.67	1.59	0.23543	.	.	.	.	.	T	0.72112	0.3420	L	0.36672	1.1	0.80722	D	1	B	0.06786	0.001	B	0.12156	0.007	T	0.56739	-0.7929	9	0.13108	T	0.6	.	4.1908	0.10419	0.6096:0.1806:0.2098:0.0	.	131	Q6ZNR0	TMM91_HUMAN	R	131	ENSP00000375859:Q131R	ENSP00000375859:Q131R	Q	+	2	0	TMEM91	46581491	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.544000	0.45761	0.615000	0.30124	0.459000	0.35465	CAG		0.706	TMEM91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398302.2			6	59	0	0	0	1	0	6	59				
AFMID	125061	broad.mit.edu	37	17	76198628	76198628	+	Missense_Mutation	SNP	A	A	G			TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr17:76198628A>G	ENST00000327898.5	+	3	212	c.203A>G	c.(202-204)tAt>tGt	p.Y68C	AFMID_ENST00000409257.5_Missense_Mutation_p.Y68C|AFMID_ENST00000588800.1_Intron|AFMID_ENST00000591952.1_Intron					arylformamidase											autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			CATGTCCCCTATGGAGACGGC	0.602																																						ENST00000409257.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19						c.(202-204)tAt>tGt		arylformamidase							61.0	63.0	62.0					17																	76198628		2203	4300	6503	SO:0001583	missense	125061					cytosol|nucleus	arylformamidase activity	g.chr17:76198628A>G	BX648442	CCDS32750.2, CCDS45801.1	17q25.3	2005-11-09			ENSG00000183077	ENSG00000183077	3.5.1.9		20910	protein-coding gene	gene with protein product							Standard	NR_027083		Approved	DKFZp686F03259, KF	uc002juz.3	Q63HM1	OTTHUMG00000153957	ENST00000327898.5:c.203A>G	17.37:g.76198628A>G	ENSP00000328938:p.Tyr68Cys					AFMID_ENST00000327898.5_Missense_Mutation_p.Y68C|AFMID_ENST00000591952.1_Intron|AFMID_ENST00000588800.1_Intron	p.Y68C	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	Q63HM1	AFMID_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)		3	257	+			68						Missense_Mutation	SNP	ENST00000327898.5	37	c.203A>G	CCDS45801.1	.	.	.	.	.	.	.	.	.	.	A	17.49	3.402261	0.62288	.	.	ENSG00000183077	ENST00000409257;ENST00000327898	.	.	.	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.77412	0.4126	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.80415	-0.1392	9	0.87932	D	0	-16.1013	12.5033	0.55968	1.0:0.0:0.0:0.0	.	68;68;68	A5PLM3;Q63HM1;Q63HM1-2	.;AFMID_HUMAN;.	C	68	.	ENSP00000328938:Y68C	Y	+	2	0	AFMID	73710223	1.000000	0.71417	0.976000	0.42696	0.532000	0.34746	6.479000	0.73600	1.962000	0.57031	0.334000	0.21626	TAT		0.602	AFMID-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333203.1	XM_058889		8	79	0	0	0	1	0	8	79				
FGL1	2267	broad.mit.edu	37	8	17743027	17743027	+	Missense_Mutation	SNP	C	C	T			TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr8:17743027C>T	ENST00000398056.2	-	4	852	c.37G>A	c.(37-39)Gct>Act	p.A13T	FGL1_ENST00000381840.2_Missense_Mutation_p.A13T|FGL1_ENST00000522444.1_Missense_Mutation_p.A13T|FGL1_ENST00000518650.1_Missense_Mutation_p.A13T|FGL1_ENST00000427924.1_Missense_Mutation_p.A13T|FGL1_ENST00000381841.2_Missense_Mutation_p.A13T|RP11-156K13.2_ENST00000519368.1_RNA|FGL1_ENST00000398054.1_Missense_Mutation_p.A13T			Q08830	FGL1_HUMAN	fibrinogen-like 1	13					adipose tissue development (GO:0060612)|cholesterol metabolic process (GO:0008203)|regulation of glucose metabolic process (GO:0010906)|response to stilbenoid (GO:0035634)	extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		ATTGTCAGAGCGGTGGTAACA	0.343																																						ENST00000398056.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13						c.(37-39)Gct>Act		fibrinogen-like 1							80.0	81.0	80.0					8																	17743027		2203	4300	6503	SO:0001583	missense	2267				signal transduction	fibrinogen complex	receptor binding	g.chr8:17743027C>T	D14446	CCDS6004.1	8p22	2013-02-06			ENSG00000104760	ENSG00000104760		"""Fibrinogen C domain containing"""	3695	protein-coding gene	gene with protein product		605776				8390249	Standard	NM_004467		Approved	HFREP-1	uc003wyb.3	Q08830	OTTHUMG00000096989	ENST00000398056.2:c.37G>A	8.37:g.17743027C>T	ENSP00000381133:p.Ala13Thr					FGL1_ENST00000522444.1_Missense_Mutation_p.A13T|FGL1_ENST00000518650.1_Missense_Mutation_p.A13T|FGL1_ENST00000427924.1_Missense_Mutation_p.A13T|FGL1_ENST00000381840.2_Missense_Mutation_p.A13T|FGL1_ENST00000381841.2_Missense_Mutation_p.A13T|FGL1_ENST00000398054.1_Missense_Mutation_p.A13T	p.A13T			Q08830	FGL1_HUMAN		Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)	4	852	-			13					A6NKU4|Q4PJH9|Q53YF1|Q8NG32|Q96KW6|Q96QM6	Missense_Mutation	SNP	ENST00000398056.2	37	c.37G>A	CCDS6004.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433886	0.25813	.	.	ENSG00000104760	ENST00000221204;ENST00000398056;ENST00000522444;ENST00000381841;ENST00000427924;ENST00000398054;ENST00000381840;ENST00000518650	T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56	3.54	-1.35	0.09114	.	3.401120	0.00837	N	0.001708	T	0.33498	0.0865	N	0.12746	0.255	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.01281	0.0;0.0	T	0.13953	-1.0490	10	0.19147	T	0.46	.	7.8855	0.29648	0.0:0.6008:0.0:0.3992	.	13;13	Q8NG32;Q08830	.;FGL1_HUMAN	T	13	ENSP00000381133:A13T;ENSP00000429757:A13T;ENSP00000371263:A13T;ENSP00000401952:A13T;ENSP00000381131:A13T;ENSP00000371262:A13T;ENSP00000428430:A13T	ENSP00000221204:A13T	A	-	1	0	FGL1	17787307	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.766000	0.01797	-0.322000	0.08615	0.555000	0.69702	GCT		0.343	FGL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375254.1	NM_004467		4	62	0	0	0	1	0	4	62				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A41T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(121-123)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29625877G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T	p.A41T							5	501	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.121G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	92	0	0	0	1	0	6	92				
UPK1B	7348	broad.mit.edu	37	3	118906737	118906737	+	Missense_Mutation	SNP	G	G	A			TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr3:118906737G>A	ENST00000264234.3	+	3	334	c.185G>A	c.(184-186)gGc>gAc	p.G62D	UPK1B_ENST00000460625.1_Missense_Mutation_p.G62D|UPK1B_ENST00000497685.1_5'UTR	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN	uroplakin 1B	62					epithelial cell differentiation (GO:0030855)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		GCCTGGATCGGCATATTTGTG	0.502																																						ENST00000264234.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14						c.(184-186)gGc>gAc		uroplakin 1B							175.0	148.0	157.0					3																	118906737		2203	4300	6503	SO:0001583	missense	7348				epithelial cell differentiation	integral to membrane	structural molecule activity	g.chr3:118906737G>A	AF082888	CCDS2985.1	3q13.32	2013-02-14			ENSG00000114638	ENSG00000114638		"""Tetraspanins"""	12578	protein-coding gene	gene with protein product		602380		UPK1		9935153, 9846985	Standard	NM_006952		Approved	TSPAN20	uc003ecc.3	O75841	OTTHUMG00000159354	ENST00000264234.3:c.185G>A	3.37:g.118906737G>A	ENSP00000264234:p.Gly62Asp					UPK1B_ENST00000497685.1_5'UTR|UPK1B_ENST00000460625.1_Missense_Mutation_p.G62D	p.G62D	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	3	334	+			62					O60753|Q9UIM2|Q9UNX6	Missense_Mutation	SNP	ENST00000264234.3	37	c.185G>A	CCDS2985.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498082	0.85069	.	.	ENSG00000114638	ENST00000264234;ENST00000479520;ENST00000494855;ENST00000460625	T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29	5.52	5.52	0.82312	.	0.237884	0.34628	N	0.003801	D	0.85133	0.5627	L	0.44542	1.39	0.46203	D	0.998926	D;D	0.64830	0.994;0.983	D;P	0.63192	0.912;0.875	D	0.83617	0.0137	9	.	.	.	-27.7565	18.0522	0.89353	0.0:0.0:1.0:0.0	.	62;62	C9J9M7;O75841	.;UPK1B_HUMAN	D	62	ENSP00000264234:G62D;ENSP00000418399:G62D;ENSP00000418597:G62D;ENSP00000418116:G62D	.	G	+	2	0	UPK1B	120389427	1.000000	0.71417	0.995000	0.50966	0.881000	0.50899	5.214000	0.65236	2.595000	0.87683	0.655000	0.94253	GGC		0.502	UPK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354883.2			4	128	0	0	0	1	0	4	128				
NRP1	8829	broad.mit.edu	37	10	33481307	33481307	+	Missense_Mutation	SNP	C	C	T			TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr10:33481307C>T	ENST00000265371.4	-	14	2489	c.1964G>A	c.(1963-1965)gGc>gAc	p.G655D	NRP1_ENST00000374867.2_Missense_Mutation_p.G655D|NRP1_ENST00000395995.1_Missense_Mutation_p.G655D|NRP1_ENST00000374875.1_Missense_Mutation_p.G467D			O14786	NRP1_HUMAN	neuropilin 1	655	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CTTGTGAGAGCCCCAGCCAAA	0.453																																					Melanoma(104;886 1489 44640 45944 51153)	ENST00000265371.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48						c.(1963-1965)gGc>gAc		neuropilin 1	Palifermin(DB00039)|Pegaptanib(DB04895)						314.0	293.0	300.0					10																	33481307		2203	4300	6503	SO:0001583	missense	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33481307C>T	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.1964G>A	10.37:g.33481307C>T	ENSP00000265371:p.Gly655Asp					NRP1_ENST00000374867.2_Missense_Mutation_p.G655D|NRP1_ENST00000395995.1_Missense_Mutation_p.G655D	p.G655D			O14786	NRP1_HUMAN			14	2489	-			655			MAM.		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	ENST00000265371.4	37	c.1964G>A	CCDS7177.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058374	0.55325	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995	T;T;T;T	0.01998	4.51;4.51;4.51;4.51	5.83	5.83	0.93111	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.098553	0.64402	D	0.000001	T	0.05731	0.0150	L	0.27053	0.805	0.80722	D	1	P;D;P;P;P	0.58268	0.863;0.982;0.863;0.863;0.745	B;P;B;P;B	0.55055	0.438;0.767;0.438;0.529;0.118	T	0.48328	-0.9045	10	0.51188	T	0.08	-23.8509	20.1338	0.98010	0.0:1.0:0.0:0.0	.	648;655;655;467;655	A8K9V7;Q68DN3;O14786;Q5JWQ6;E9PEP6	.;.;NRP1_HUMAN;.;.	D	655;467;655;655	ENSP00000265371:G655D;ENSP00000364009:G467D;ENSP00000364001:G655D;ENSP00000379317:G655D	ENSP00000265371:G655D	G	-	2	0	NRP1	33521313	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.327000	0.59247	2.770000	0.95276	0.655000	0.94253	GGC		0.453	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			9	339	0	0	0	1	0	9	339				
WDR18	57418	broad.mit.edu	37	19	990319	990319	+	Silent	SNP	C	C	T			TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr19:990319C>T	ENST00000251289.5	+	4	575	c.552C>T	c.(550-552)ggC>ggT	p.G184G	WDR18_ENST00000587001.2_Silent_p.G184G	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	184					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTTGGGGGCCCCCTGGCCC	0.716																																						ENST00000251289.5																			0				endometrium(1)|kidney(2)|lung(2)|skin(2)	7						c.(550-552)ggC>ggT		WD repeat domain 18							15.0	16.0	16.0					19																	990319		2186	4280	6466	SO:0001819	synonymous_variant	57418							g.chr19:990319C>T		CCDS12051.1	19p13.3	2013-01-09				ENSG00000065268		"""WD repeat domain containing"""	17956	protein-coding gene	gene with protein product	"""Involved in Processing ITS2 3 homolog (S. cerevisiae)"""					22190735	Standard	NM_024100		Approved	Ipi3	uc002lqm.1	Q9BV38		ENST00000251289.5:c.552C>T	19.37:g.990319C>T						WDR18_ENST00000587001.2_Silent_p.G184G	p.G184G	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	575	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	184					O60390|Q9BWR2	Silent	SNP	ENST00000251289.5	37	c.552C>T	CCDS12051.1																																																																																				0.716	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458225.2			3	14	0	0	0	1	0	3	14				
OR2M2	391194	broad.mit.edu	37	1	248344028	248344028	+	Silent	SNP	G	G	A	rs529436953		TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr1:248344028G>A	ENST00000359682.2	+	1	741	c.741G>A	c.(739-741)gtG>gtA	p.V247V		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACCTCATGGTGGTGGGAATGT	0.493																																						ENST00000359682.2																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70						c.(739-741)gtG>gtA		olfactory receptor, family 2, subfamily M, member 2							223.0	199.0	207.0					1																	248344028		2203	4300	6503	SO:0001819	synonymous_variant	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248344028G>A	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.741G>A	1.37:g.248344028G>A							p.V247V	NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	741	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		247					A3KFT4	Silent	SNP	ENST00000359682.2	37	c.741G>A	CCDS31106.1																																																																																				0.493	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		5	240	0	0	0	1	0	5	240				
HGF	3082	broad.mit.edu	37	7	81381500	81381500	+	Silent	SNP	G	G	A			TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr7:81381500G>A	ENST00000222390.5	-	5	787	c.561C>T	c.(559-561)ccC>ccT	p.P187P	HGF_ENST00000453411.1_Silent_p.P182P|HGF_ENST00000444829.2_Silent_p.P187P|HGF_ENST00000457544.2_Silent_p.P182P|HGF_ENST00000423064.2_Silent_p.P187P	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	187	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TGAAACACCAGGGTCCCCCTT	0.443																																						ENST00000222390.5																			0				NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						c.(559-561)ccC>ccT		hepatocyte growth factor (hepapoietin A; scatter factor)							148.0	127.0	134.0					7																	81381500		2203	4300	6503	SO:0001819	synonymous_variant	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81381500G>A		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.561C>T	7.37:g.81381500G>A						HGF_ENST00000423064.2_Silent_p.P187P|HGF_ENST00000444829.2_Silent_p.P187P|HGF_ENST00000457544.2_Silent_p.P182P|HGF_ENST00000453411.1_Silent_p.P182P	p.P187P	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN			5	787	-			187			Kringle 1.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Silent	SNP	ENST00000222390.5	37	c.561C>T	CCDS5597.1																																																																																				0.443	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		4	64	0	0	0	1	0	4	64				
SLC25A43	203427	broad.mit.edu	37	X	118540494	118540494	+	Missense_Mutation	SNP	C	C	T			TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chrX:118540494C>T	ENST00000217909.7	+	2	691	c.347C>T	c.(346-348)gCa>gTa	p.A116V	SLC25A43_ENST00000336249.7_Missense_Mutation_p.A116V|SLC25A43_ENST00000488158.1_3'UTR	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN	solute carrier family 25, member 43	116					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						GGGAGTCTCGCAGGCATGGTT	0.512																																						ENST00000217909.7																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						c.(346-348)gCa>gTa		solute carrier family 25, member 43							94.0	83.0	86.0					X																	118540494		2203	4300	6503	SO:0001583	missense	203427				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chrX:118540494C>T	BC019584	CCDS14577.1	Xq24	2013-05-22			ENSG00000077713	ENSG00000077713		"""Solute carriers"""	30557	protein-coding gene	gene with protein product		300641				16949250	Standard	NM_145305		Approved		uc004erd.3	Q8WUT9	OTTHUMG00000022272	ENST00000217909.7:c.347C>T	X.37:g.118540494C>T	ENSP00000217909:p.Ala116Val					SLC25A43_ENST00000488158.1_3'UTR|SLC25A43_ENST00000336249.7_Missense_Mutation_p.A116V	p.A116V	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN			2	691	+			116					O75854|Q8N9L5	Missense_Mutation	SNP	ENST00000217909.7	37	c.347C>T	CCDS14577.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.814793	0.90790	.	.	ENSG00000077713	ENST00000217909;ENST00000336249;ENST00000326714	D;D	0.88046	-2.33;-2.33	4.9	4.9	0.64082	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.94703	0.8291	M	0.91140	3.18	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.99	D	0.95948	0.8952	10	0.87932	D	0	.	16.1911	0.81989	0.0:1.0:0.0:0.0	.	116;116	B4E1P8;Q8WUT9	.;S2543_HUMAN	V	116;116;64	ENSP00000217909:A116V;ENSP00000338628:A116V	ENSP00000217909:A116V	A	+	2	0	SLC25A43	118424522	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	6.944000	0.75940	2.017000	0.59298	0.287000	0.19450	GCA		0.512	SLC25A43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058028.1	NM_145305		4	94	0	0	0	1	0	4	94				
FRG1	2483	broad.mit.edu	37	4	190878646	190878646	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr4:190878646G>T	ENST00000226798.4	+	6	748	c.526G>T	c.(526-528)Gaa>Taa	p.E176*	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	176					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E176*(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AGGAGAAGAAGAAATGATCAA	0.373																																						ENST00000226798.4																			1	Substitution - Nonsense(1)	p.E176*(1)	central_nervous_system(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(526-528)Gaa>Taa		FSHD region gene 1							48.0	44.0	45.0					4																	190878646		2179	4274	6453	SO:0001587	stop_gained	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190878646G>T	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.526G>T	4.37:g.190878646G>T	ENSP00000226798:p.Glu176*					FRG1_ENST00000514482.1_3'UTR	p.E176*	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	6	748	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	176					A8K775	Nonsense_Mutation	SNP	ENST00000226798.4	37	c.526G>T	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	34	5.401103	0.96030	.	.	ENSG00000109536	ENST00000226798;ENST00000524583;ENST00000531991	.	.	.	4.29	3.44	0.39384	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-3.1825	10.4286	0.44393	0.0989:0.0:0.9011:0.0	.	.	.	.	X	176;48;113	.	ENSP00000226798:E176X	E	+	1	0	FRG1	191115640	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	6.376000	0.73141	0.937000	0.37394	0.454000	0.30748	GAA		0.373	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		4	75	1	0	1.12685e-05	1	1.12685e-05	4	75				
SYNE1	23345	broad.mit.edu	37	6	152651592	152651592	+	Missense_Mutation	SNP	G	G	A			TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr6:152651592G>A	ENST00000367255.5	-	78	14829	c.14228C>T	c.(14227-14229)aCa>aTa	p.T4743I	SYNE1_ENST00000423061.1_Missense_Mutation_p.T4672I|SYNE1_ENST00000341594.5_Missense_Mutation_p.T4490I|SYNE1_ENST00000265368.4_Missense_Mutation_p.T4743I|SYNE1_ENST00000448038.1_Missense_Mutation_p.T4672I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4743					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGGCTGACCTGTGCTGCGAAA	0.517										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(14227-14229)aCa>aTa		spectrin repeat containing, nuclear envelope 1							89.0	94.0	92.0					6																	152651592		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152651592G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.14228C>T	6.37:g.152651592G>A	ENSP00000356224:p.Thr4743Ile	HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Missense_Mutation_p.T4672I|SYNE1_ENST00000265368.4_Missense_Mutation_p.T4743I|SYNE1_ENST00000341594.5_Missense_Mutation_p.T4490I|SYNE1_ENST00000448038.1_Missense_Mutation_p.T4672I	p.T4743I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	14829	-		Ovarian(120;0.0955)	4743					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.14228C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	11.97	1.796677	0.31777	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000006	T	0.47002	0.1422	L	0.52573	1.65	0.80722	D	1	D;D;D;D	0.56521	0.976;0.96;0.96;0.976	P;B;B;P	0.53861	0.736;0.226;0.226;0.54	T	0.39563	-0.9608	10	0.48119	T	0.1	.	15.5977	0.76599	0.0:0.137:0.863:0.0	.	4743;4743;4743;4672	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	I	4743;4672;4743;4672;4490	ENSP00000356224:T4743I;ENSP00000396024:T4672I;ENSP00000265368:T4743I;ENSP00000390975:T4672I;ENSP00000341887:T4490I	ENSP00000265368:T4743I	T	-	2	0	SYNE1	152693285	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	6.573000	0.74009	2.767000	0.95098	0.591000	0.81541	ACA		0.517	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		6	73	0	0	0	1	0	6	73				
DEPDC5	9681	broad.mit.edu	37	22	32198783	32198783	+	Missense_Mutation	SNP	G	G	A			TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr22:32198783G>A	ENST00000382112.3	+	14	1110	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	DEPDC5_ENST00000400249.2_Missense_Mutation_p.R347H|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R347H|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R347H|DEPDC5_ENST00000400246.1_Missense_Mutation_p.R347H|DEPDC5_ENST00000400248.2_Missense_Mutation_p.R347H|DEPDC5_ENST00000382105.2_Missense_Mutation_p.R347H|DEPDC5_ENST00000536766.1_Missense_Mutation_p.R319H|DEPDC5_ENST00000400242.3_Missense_Mutation_p.R347H|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R347H	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	347					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GAAGTGGACCGCCTACTCATG	0.498																																						ENST00000400246.1																			0				breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(1039-1041)cGc>cAc		DEP domain containing 5							173.0	169.0	170.0					22																	32198783		2022	4184	6206	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32198783G>A	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.1040G>A	22.37:g.32198783G>A	ENSP00000371546:p.Arg347His					DEPDC5_ENST00000382105.2_Missense_Mutation_p.R347H|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R347H|DEPDC5_ENST00000382112.3_Missense_Mutation_p.R347H|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R347H|DEPDC5_ENST00000536766.1_Missense_Mutation_p.R319H|DEPDC5_ENST00000400242.3_Missense_Mutation_p.R347H|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R347H|DEPDC5_ENST00000400248.1_Missense_Mutation_p.R347H|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R347H	p.R347H			O75140	DEPD5_HUMAN			15	1182	+			347					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.1040G>A	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	G	36	5.708759	0.96821	.	.	ENSG00000100150	ENST00000535622;ENST00000536766;ENST00000400242;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	T;T;T;T;T;T;T;T;T;T	0.47528	1.4;1.4;0.84;1.79;1.79;1.78;1.38;1.78;1.78;1.79	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.71668	0.3367	M	0.79805	2.47	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.992;1.0;0.988	D;D;D;D;D;P	0.91635	0.999;0.998;0.997;0.965;0.999;0.674	T	0.74219	-0.3736	10	0.56958	D	0.05	.	18.3458	0.90321	0.0:0.0:1.0:0.0	.	347;319;347;347;347;347	B9EGN9;F5GYZ8;B4DH93;A8MPX9;O75140;O75140-2	.;.;.;.;DEPD5_HUMAN;.	H	347;319;347;347;347;347;347;347;347;347;347	ENSP00000440210:R347H;ENSP00000441358:R319H;ENSP00000383101:R347H;ENSP00000266091:R347H;ENSP00000383108:R347H;ENSP00000383105:R347H;ENSP00000371539:R347H;ENSP00000371546:R347H;ENSP00000371545:R347H;ENSP00000383107:R347H	ENSP00000266091:R347H	R	+	2	0	DEPDC5	30528783	1.000000	0.71417	0.960000	0.40013	0.998000	0.95712	9.554000	0.98121	2.573000	0.86826	0.650000	0.86243	CGC		0.498	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		4	110	0	0	0	1	0	4	110				
BCL9	607	broad.mit.edu	37	1	147091046	147091046	+	Missense_Mutation	SNP	C	C	T			TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr1:147091046C>T	ENST00000234739.3	+	8	1825	c.1085C>T	c.(1084-1086)tCc>tTc	p.S362F		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	362	Interacts with CTNNB1.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CGGGAGCGCTCCTTACAAACT	0.567			T	"""IGH@, IGL@"""	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(1084-1086)tCc>tTc		B-cell CLL/lymphoma 9							64.0	77.0	73.0					1																	147091046		2203	4300	6503	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147091046C>T	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1085C>T	1.37:g.147091046C>T	ENSP00000234739:p.Ser362Phe						p.S362F	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			8	1825	+	all_hematologic(923;0.115)		362			CTNNB1-binding.|Pro-rich.		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.1085C>T	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.091863	0.76756	.	.	ENSG00000116128	ENST00000234739	T	0.62498	0.02	5.46	5.46	0.80206	B-cell lymphoma 9, beta-catenin binding domain (1);	0.000000	0.85682	D	0.000000	T	0.66896	0.2836	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.69986	-0.4996	10	0.87932	D	0	-16.5804	19.5721	0.95425	0.0:1.0:0.0:0.0	.	362;362	Q1JQ81;O00512	.;BCL9_HUMAN	F	362	ENSP00000234739:S362F	ENSP00000234739:S362F	S	+	2	0	BCL9	145557670	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.455000	0.80726	2.857000	0.98124	0.650000	0.86243	TCC		0.567	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		7	163	0	0	0	1	0	7	163				
PSG7	5676	broad.mit.edu	37	19	43439893	43439893	+	RNA	SNP	G	G	A			TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr19:43439893G>A	ENST00000406070.2	-	0	189				PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				GGGCTGTGGTGGGCGGGTTCC	0.507																																						ENST00000406070.2																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							134.0	139.0	137.0					19																	43439893		2202	4300	6502			5676				female pregnancy	extracellular region		g.chr19:43439893G>A			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439893G>A						PSG7_ENST00000446844.3_RNA		NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN			0	189	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.507	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		8	253	0	0	0	1	0	8	253				
ARHGEF15	22899	broad.mit.edu	37	17	8215408	8215408	+	Silent	SNP	T	T	C			TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr17:8215408T>C	ENST00000361926.3	+	2	161	c.51T>C	c.(49-51)ccT>ccC	p.P17P	ARHGEF15_ENST00000421050.1_Silent_p.P17P	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	17	Pro-rich.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						AGAAGCCCCCTCGGATCATCC	0.627																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(49-51)ccT>ccC		Rho guanine nucleotide exchange factor (GEF) 15							62.0	68.0	66.0					17																	8215408		2203	4300	6503	SO:0001819	synonymous_variant	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8215408T>C	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.51T>C	17.37:g.8215408T>C						ARHGEF15_ENST00000421050.1_Silent_p.P17P	p.P17P	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			2	161	+			17			Pro-rich.		A8K6G1|Q8N449|Q9H8B4	Silent	SNP	ENST00000361926.3	37	c.51T>C	CCDS11139.1																																																																																				0.627	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		5	60	0	0	0	1	0	5	60				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		29	45	0	0	0	1	0	29	45				
GPRIN2	9721	broad.mit.edu	37	10	46999469	46999469	+	Missense_Mutation	SNP	C	C	A			TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr10:46999469C>A	ENST00000374317.1	+	3	862	c.589C>A	c.(589-591)Cca>Aca	p.P197T	GPRIN2_ENST00000374314.4_Missense_Mutation_p.P197T	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	197										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GTTGTCAGTGCCACCACTAGA	0.632																																						ENST00000374314.4																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						c.(589-591)Cca>Aca		G protein regulated inducer of neurite outgrowth 2							40.0	40.0	40.0					10																	46999469		2203	4300	6503	SO:0001583	missense	9721							g.chr10:46999469C>A	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.589C>A	10.37:g.46999469C>A	ENSP00000363436:p.Pro197Thr					GPRIN2_ENST00000374317.1_Missense_Mutation_p.P197T	p.P197T			O60269	GRIN2_HUMAN			1	1544	+			197					Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	c.589C>A	CCDS31192.1	.	.	.	.	.	.	.	.	.	.	C	3.245	-0.154557	0.06544	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.04049	3.72;3.72	5.18	1.22	0.21188	.	0.899225	0.09337	N	0.816054	T	0.04543	0.0124	L	0.36672	1.1	0.09310	N	1	B	0.25667	0.131	B	0.28232	0.087	T	0.47573	-0.9107	10	0.28530	T	0.3	-0.0194	4.8976	0.13759	0.0:0.5847:0.1541:0.2612	.	197	O60269	GRIN2_HUMAN	T	197	ENSP00000363436:P197T;ENSP00000363433:P197T	ENSP00000363433:P197T	P	+	1	0	GPRIN2	46419475	0.000000	0.05858	0.005000	0.12908	0.009000	0.06853	-0.274000	0.08537	0.032000	0.15435	-0.263000	0.10527	CCA		0.632	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		9	26	1	0	1.12685e-05	1	1.12685e-05	9	26				
ZNF623	9831	broad.mit.edu	37	8	144732640	144732640	+	Missense_Mutation	SNP	G	G	A	rs377222268		TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr8:144732640G>A	ENST00000501748.2	+	1	687	c.598G>A	c.(598-600)Gtt>Att	p.V200I	ZNF623_ENST00000458270.2_Missense_Mutation_p.V160I|ZNF623_ENST00000526926.1_Missense_Mutation_p.V160I	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	200					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCATCAGCGCGTTCATTCAGG	0.473																																						ENST00000501748.2																			0				endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27						c.(598-600)Gtt>Att		zinc finger protein 623		G	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	107.0	94.0	99.0		478,598	-0.9	0.0	8		99	0,8600		0,0,4300	no	missense,missense	ZNF623	NM_001082480.1,NM_014789.3	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	160/497,200/537	144732640	1,13005	2203	4300	6503	SO:0001583	missense	9831				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144732640G>A	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"""Zinc fingers, C2H2-type"""	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.598G>A	8.37:g.144732640G>A	ENSP00000445979:p.Val200Ile					ZNF623_ENST00000458270.2_Missense_Mutation_p.V160I|ZNF623_ENST00000526926.1_Missense_Mutation_p.V160I	p.V200I	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		1	687	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		200					A4FU80|B4DGP3|E7ENV5	Missense_Mutation	SNP	ENST00000501748.2	37	c.598G>A	CCDS34957.1	.	.	.	.	.	.	.	.	.	.	G	0.608	-0.826108	0.02734	2.27E-4	0.0	ENSG00000183309	ENST00000526926;ENST00000328466;ENST00000458270;ENST00000532796;ENST00000501748	T;T;T	0.07688	3.17;3.17;3.17	4.48	-0.876	0.10624	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02929	0.0087	N	0.11131	0.1	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.45338	-0.9268	9	0.02654	T	1	0.0218	4.0579	0.09824	0.5434:0.0:0.2796:0.1771	.	200	O75123	ZN623_HUMAN	I	160;160;160;200;200	ENSP00000435232:V160I;ENSP00000411139:V160I;ENSP00000445979:V200I	ENSP00000330358:V160I	V	+	1	0	ZNF623	144803783	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.320000	0.19540	-0.061000	0.13110	0.655000	0.94253	GTT		0.473	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789		4	108	0	0	0	1	0	4	108				
MTX1	4580	broad.mit.edu	37	1	155186353	155186353	+	IGR	SNP	T	T	C			TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr1:155186353T>C	ENST00000368376.3	+	0	1632				GBAP1_ENST00000486869.1_RNA|RP11-263K19.6_ENST00000455788.1_RNA	NM_002455.3	NP_002446.2	Q13505	MTX1_HUMAN	metaxin 1						cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGCAGAAGGCTCATTTTCAGC	0.527																																						ENST00000486869.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr1:155186353T>C		CCDS1100.1, CCDS1101.1	1q21	2008-07-18			ENSG00000173171	ENSG00000173171			7504	protein-coding gene	gene with protein product		600605		MTX		7753840	Standard	XM_006711338		Approved	MTXN	uc001fjb.3	Q13505	OTTHUMG00000035708		1.37:g.155186353T>C								NR_002188.2						0	715	-								B1AVR9|B1AVS0|B2R9P4|Q9BUU3	RNA	SNP	ENST00000368376.3	37		CCDS1100.1	.	.	.	.	.	.	.	.	.	.	.	13.02	2.112571	0.37242	.	.	ENSG00000160766	ENST00000368374;ENST00000313929	.	.	.	4.1	4.1	0.47936	.	0.000000	0.64402	D	0.000001	T	0.65260	0.2674	.	.	.	0.45580	D	0.998522	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.71596	-0.4545	7	0.87932	D	0	.	9.3861	0.38345	0.0:0.0:0.0:1.0	.	152;113;191	C4AM82;B3KQW3;B4DHT6	.;.;.	G	152	.	ENSP00000316400:E152G	E	-	2	0	GBAP1	153452977	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	6.691000	0.74573	1.717000	0.51406	0.460000	0.39030	GAG		0.527	MTX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086844.1	NM_198883		3	27	0	0	0	1	0	3	27				
XKR5	389610	broad.mit.edu	37	8	6679301	6679302	+	RNA	DEL	CA	CA	-	rs370394378		TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr8:6679301_6679302delCA	ENST00000518724.1	-	0	958							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		TGCATTGGTGcacacacacaca	0.401																																						ENST00000518724.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3								XK, Kell blood group complex subunit-related family, member 5																																						389610					integral to membrane		g.chr8:6679301_6679302delCA	AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 5"""				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6679311_6679312delCA										Q6UX68	XKR5_HUMAN	STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)	0	958	-								Q5GH74	RNA	DEL	ENST00000518724.1	37																																																																																						0.401	XKR5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000331969.2	NM_207411		2	4						2	4	---	---	---	---
CCDC86	79080	broad.mit.edu	37	11	60610042	60610043	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr11:60610042_60610043insC	ENST00000227520.5	+	1	499_500	c.445_446insC	c.(445-447)gccfs	p.A149fs	RP11-804A23.2_ENST00000539897.1_RNA|RP11-804A23.4_ENST00000538705.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	149	Pro-rich.				viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						GACCCCGGGGGCCCCCCAGCAT	0.634																																						ENST00000227520.5																			0				endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						c.(445-447)cccfs		coiled-coil domain containing 86																																				SO:0001589	frameshift_variant	79080				interspecies interaction between organisms	nucleus		g.chr11:60610042_60610043insC	AK025974	CCDS7993.1	11q12.2	2006-03-16			ENSG00000110104	ENSG00000110104			28359	protein-coding gene	gene with protein product		611293					Standard	NM_024098		Approved	MGC2574	uc001nqa.2	Q9H6F5	OTTHUMG00000167706	ENST00000227520.5:c.451dupC	11.37:g.60610048_60610048dupC	ENSP00000227520:p.Ala149fs					RP11-804A23.4_ENST00000538705.1_RNA|RP11-804A23.2_ENST00000539897.1_RNA	p.P149fs	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN			1	499_500	+			149			Pro-rich.		B4DY99	Frame_Shift_Ins	INS	ENST00000227520.5	37	c.445_446insC	CCDS7993.1																																																																																				0.634	CCDC86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395743.1	NM_024098		7	97						7	97	---	---	---	---
KRT1	3848	broad.mit.edu	37	12	53069236	53069256	+	In_Frame_Del	DEL	TAGCTGCTACCTCCGGAGCCA	TAGCTGCTACCTCCGGAGCCA	-	rs371843007|rs77846840|rs540699806|rs267607656	byFrequency	TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENST00000252244.3	-	9	1714_1734	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	c.(1654-1677)tatggctccggaggtagcagctac>tac	p.552_559YGSGGSSY>Y		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	552	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)	p.S557_G563delSSYGSGG(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						tccggagccgtagctgctacctccggagccatagctgccac	0.688																																						ENST00000252244.3																			3	Deletion - In frame(3)	p.S557_G563delSSYGSGG(3)	prostate(2)|central_nervous_system(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						c.(1654-1677)tac>ta		keratin 1				1239,2109		396,447,831				http://www.ncbi.nlm.nih.gov/sites/varvu?gene		-4.4	0.0		dbSNP_129	4	2732,4060		826,1080,1490	no	coding	KRT1	NM_006121.3		1222,1527,2321	A1A1,A1R,RR		40.2238,37.0072,39.1617				3971,6169				SO:0001651	inframe_deletion	3848				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	12.37:g.53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENSP00000252244:p.Tyr552_Ser558del						p.YGSGGSSY552del	NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN			9	1714_1734	-			552			Gly/Ser-rich.|Tail.		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	In_Frame_Del	DEL	ENST00000252244.3	37	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	CCDS8836.1																																																																																				0.688	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		9	9						9	9	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132547093	132547094	+	In_Frame_Ins	INS	-	-	CAG	rs10902490|rs113304321|rs528214697	byFrequency	TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr12:132547093_132547094insCAG	ENST00000333577.4	+	48	8398_8399	c.8289_8290insCAG	c.(8290-8292)cag>CAGcag	p.2764_2764Q>QQ	EP400_ENST00000389562.2_In_Frame_Ins_p.2727_2727Q>QQ|EP400_ENST00000330386.6_In_Frame_Ins_p.2647_2647Q>QQ|EP400_ENST00000332482.4_In_Frame_Ins_p.2691_2691Q>QQ|EP400_ENST00000389561.2_In_Frame_Ins_p.2728_2728Q>QQ			Q96L91	EP400_HUMAN	E1A binding protein p400	2764	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagca	0.564														1869	0.373203	0.3427	0.513	5008	,	,		15674	0.2391		0.4722	False		,,,				2504	0.3517					ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8292)caagca>caCAGagca		E1A binding protein p400																																				SO:0001652	inframe_insertion	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093_132547094insCAG	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8329_8331dupCAG	12.37:g.132547100_132547102dupCAG	ENSP00000333602:p.Gln2784dup					EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR	p.2763_2763Q>HR			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398_8399	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	In_Frame_Ins	INS	ENST00000333577.4	37	c.8289_8290insCAG																																																																																					0.564	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		14	66						14	66	---	---	---	---
TSC22D1	8848	broad.mit.edu	37	13	45148706	45148708	+	In_Frame_Del	DEL	TGC	TGC	-	rs112613609		TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr13:45148706_45148708delTGC	ENST00000458659.2	-	1	1993_1995	c.1503_1505delGCA	c.(1501-1506)cagcaa>caa	p.501_502QQ>Q	TSC22D1_ENST00000501704.2_In_Frame_Del_p.501_502QQ>Q|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	501	Gln-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		ttgttgttgttgctgctgctgct	0.507																																						ENST00000458659.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1501-1506)caa>ca		TSC22 domain family, member 1																																				SO:0001651	inframe_deletion	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45148706_45148708delTGC	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1503_1505delGCA	13.37:g.45148715_45148717delTGC	ENSP00000397435:p.Gln509del					TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ507del	p.QQ507del	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	1993_1995	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	507			Gln-rich.		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	In_Frame_Del	DEL	ENST00000458659.2	37	c.1503_1505delGCA	CCDS31966.1																																																																																				0.507	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		7	154						7	154	---	---	---	---
FARP1	10160	broad.mit.edu	37	13	99038023	99038023	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr13:99038023delG	ENST00000319562.6	+	8	979	c.714delG	c.(712-714)acgfs	p.T238fs	FARP1_ENST00000595437.1_Frame_Shift_Del_p.T238fs|FARP1_ENST00000376586.2_Frame_Shift_Del_p.T238fs	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	238	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GGGAAGGCACGAAGATCAATC	0.537																																						ENST00000376586.2																			0				breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(712-714)acfs		FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)							110.0	97.0	101.0					13																	99038023		2203	4300	6503	SO:0001589	frameshift_variant	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99038023delG	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.714delG	13.37:g.99038023delG	ENSP00000322926:p.Thr238fs					FARP1_ENST00000595437.1_Frame_Shift_Del_p.T238fs|FARP1_ENST00000319562.6_Frame_Shift_Del_p.T238fs	p.T238fs			Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		8	1050	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		238			FERM.		Q5JVI9|Q6IQ29	Frame_Shift_Del	DEL	ENST00000319562.6	37	c.714delG	CCDS9487.1																																																																																				0.537	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		7	79						7	79	---	---	---	---
PML	5371	broad.mit.edu	37	15	74287226	74287226	+	Frame_Shift_Del	DEL	C	C	-	rs376726233		TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr15:74287226delC	ENST00000268058.3	+	1	169	c.73delC	c.(73-75)cccfs	p.P26fs	STOML1_ENST00000316900.5_5'Flank|PML_ENST00000563500.1_Frame_Shift_Del_p.P26fs|PML_ENST00000359928.4_Frame_Shift_Del_p.P26fs|PML_ENST00000564428.1_Frame_Shift_Del_p.P26fs|PML_ENST00000565898.1_Frame_Shift_Del_p.P26fs|PML_ENST00000567543.1_Frame_Shift_Del_p.P26fs|STOML1_ENST00000316911.6_5'Flank|STOML1_ENST00000561656.1_5'Flank|STOML1_ENST00000564777.1_5'Flank|STOML1_ENST00000359750.4_5'Flank|PML_ENST00000268059.6_Frame_Shift_Del_p.P26fs|STOML1_ENST00000541638.1_5'Flank|PML_ENST00000569477.1_Frame_Shift_Del_p.P26fs|PML_ENST00000435786.2_Frame_Shift_Del_p.P26fs|PML_ENST00000436891.3_Frame_Shift_Del_p.P26fs|PML_ENST00000569965.1_Frame_Shift_Del_p.P26fs|PML_ENST00000395135.3_Frame_Shift_Del_p.P26fs|PML_ENST00000395132.2_Frame_Shift_Del_p.P26fs|PML_ENST00000354026.6_Frame_Shift_Del_p.P26fs	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	26	Pro-rich.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CACCATGCCTCCCCCCGAGAC	0.652			T	"""RARA, PAX5"""	"""APL, ALL"""																																	ENST00000565898.1				Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	"""RARA, PAX5"""		"""APL, ALL"""		0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						c.(73-75)ccfs		promyelocytic leukemia							3.0	4.0	3.0					15																	74287226		1957	3899	5856	SO:0001589	frameshift_variant	5371				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr15:74287226delC	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.73delC	15.37:g.74287226delC	ENSP00000268058:p.Pro26fs					PML_ENST00000563500.1_Frame_Shift_Del_p.P26fs|PML_ENST00000268058.3_Frame_Shift_Del_p.P26fs|PML_ENST00000268059.6_Frame_Shift_Del_p.P26fs|PML_ENST00000436891.3_Frame_Shift_Del_p.P26fs|PML_ENST00000395132.2_Frame_Shift_Del_p.P26fs|PML_ENST00000395135.3_Frame_Shift_Del_p.P26fs|PML_ENST00000359928.4_Frame_Shift_Del_p.P26fs|PML_ENST00000354026.6_Frame_Shift_Del_p.P26fs|PML_ENST00000569477.1_Frame_Shift_Del_p.P26fs|PML_ENST00000567543.1_Frame_Shift_Del_p.P26fs|PML_ENST00000569965.1_Frame_Shift_Del_p.P26fs|PML_ENST00000435786.2_Frame_Shift_Del_p.P26fs|PML_ENST00000564428.1_Frame_Shift_Del_p.P26fs	p.P26fs			P29590	PML_HUMAN			1	157	+			26			Pro-rich.		E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Frame_Shift_Del	DEL	ENST00000268058.3	37	c.73delC	CCDS10255.1																																																																																				0.652	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		2	4						2	4	---	---	---	---
MADCAM1	8174	broad.mit.edu	37	19	501701	501702	+	In_Frame_Ins	INS	-	-	ACACCACCTCCCCGGAGCCTCCCA	rs71171990|rs72970252	byFrequency	TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr19:501701_501702insACACCACCTCCCCGGAGCCTCCCA	ENST00000215637.3	+	4	746_747	c.700_701insACACCACCTCCCCGGAGCCTCCCA	c.(700-702)gac>gACACCACCTCCCCGGAGCCTCCCAac	p.234_235insTTSPEPPN	MADCAM1_ENST00000587541.1_In_Frame_Ins_p.15_16insTTSPEPPN|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000346144.4_Intron|MADCAM1_ENST00000382683.4_Intron	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	234	5.5 X 8 AA tandem repeats of [PS]-P-D-T- T-S-[QP]-E.|Mucin-like.				aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding involved in cell-matrix adhesion (GO:0098640)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGCCTCCCGACACCACCTCC	0.653																																						ENST00000587541.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10						c.(43-45)cac>ACACCACCTCCCCGGAGCCTCCCAcac		mucosal vascular addressin cell adhesion molecule 1																																				SO:0001652	inframe_insertion	8174				cell adhesion|immune response|regulation of immune response|signal transduction	integral to membrane|membrane fraction|plasma membrane		g.chr19:501701_501702insACACCACCTCCCCGGAGCCTCCCA	U43628	CCDS12028.1, CCDS12029.1	19p13.3	2013-01-11			ENSG00000099866	ENSG00000099866		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6765	protein-coding gene	gene with protein product	"""mucosal addressin cell adhesion molecule-1"""	102670				9162097, 8609404	Standard	NM_130762		Approved	MACAM1	uc002los.3	Q13477	OTTHUMG00000180548	Exception_encountered	19.37:g.501701_501702insACACCACCTCCCCGGAGCCTCCCA	ENSP00000215637:p.Asp234_Thr235insThrThrSerProGluProProAsn					MADCAM1_ENST00000215637.3_In_Frame_Ins_p.233_234insTPPPRSLP|MADCAM1_ENST00000346144.4_Intron|MADCAM1_ENST00000382683.4_Intron|AC005775.2_ENST00000592413.1_RNA	p.14_15insTPPPRSLP			Q13477	MADCA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	897_898	+		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	233					A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	In_Frame_Ins	INS	ENST00000215637.3	37	c.43_44insACACCACCTCCCCGGAGCCTCCCA	CCDS12028.1																																																																																				0.653	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451884.1	NM_130760		16	33						16	33	---	---	---	---
LOC100420587	100420587	broad.mit.edu	37	19	29197819	29197819	+	lincRNA	DEL	C	C	-			TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr19:29197819delC	ENST00000592347.1	-	0	642																											GTTGTGTCTTCCATACCCACC	0.398																																						ENST00000592347.1																			0																																																			0							g.chr19:29197819delC																													19.37:g.29197819delC														0	642	-									RNA	DEL	ENST00000592347.1	37																																																																																						0.398	AC005307.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000453069.1			2	4						2	4	---	---	---	---
BCRP7	100133163	broad.mit.edu	37	22	18843723	18843724	+	Intron	INS	-	-	A	rs551366566|rs370464593		TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr22:18843723_18843724insA	ENST00000412938.1	+	4	2337																											AGGGGCACCCCACGGCCTGGAG	0.619																																						ENST00000412938.1																			0																																																	SO:0001627	intron_variant	0							g.chr22:18843723_18843724insA																												ENST00000412938.1:c.2337+292->A	22.37:g.18843724_18843724dupA														0	2337	+									RNA	INS	ENST00000412938.1	37																																																																																						0.619	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	6						4	6	---	---	---	---
GUSBP11	91316	broad.mit.edu	37	22	24000276	24000281	+	RNA	DEL	TCCTCT	TCCTCT	-	rs397734847|rs398121744|rs138300012|rs55638329|rs113849440|rs202219814|rs80152989	byFrequency	TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chr22:24000276_24000281delTCCTCT	ENST00000455485.1	-	0	3360				AP000347.2_ENST00000417194.1_RNA|KB-1572G7.2_ENST00000421064.1_RNA			Q6P575	BGP11_HUMAN	glucuronidase, beta pseudogene 11						carbohydrate metabolic process (GO:0005975)		hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)										ttcttttTTctcctcttcctcttcct	0.476														3619	0.722644	0.8033	0.7421	5008	,	,		14707	0.6726		0.668	False		,,,				2504	0.7076					ENST00000417194.1																			0																																																			0							g.chr22:24000276_24000281delTCCTCT			22q11.23	2011-06-09			ENSG00000228315	ENSG00000228315			42325	pseudogene	pseudogene							Standard	NR_024448		Approved		uc011aiz.2	Q6P575	OTTHUMG00000150709		22.37:g.24000282_24000287delTCCTCT														0	5003_5004	-									RNA	DEL	ENST00000455485.1	37																																																																																						0.476	GUSBP11-005	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000319697.1			2	4						2	4	---	---	---	---
ZNF41	7592	broad.mit.edu	37	X	47326846	47326846	+	Frame_Shift_Del	DEL	G	G	-	rs34711808		TCGA-KS-A41F-01A-11D-A23M-08	TCGA-KS-A41F-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58701cf8-a5ac-4479-8157-0d1f04688a4b	476ae26c-331a-4fbe-a53f-aae55bfb5de3	g.chrX:47326846delG	ENST00000377065.4	-	2	674	c.35delC	c.(34-36)ccgfs	p.P12fs	ZNF41_ENST00000397050.2_Frame_Shift_Del_p.R9fs|ZNF41_ENST00000465311.1_5'UTR|ZNF41_ENST00000313116.7_Frame_Shift_Del_p.P12fs	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	12					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				AGCCAGGGCCGGGGACCATGG	0.612																																						ENST00000377065.4																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24						c.(34-36)cgfs		zinc finger protein 41							35.0	27.0	30.0					X																	47326846		2200	4295	6495	SO:0001589	frameshift_variant	7592					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47326846delG	X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.35delC	X.37:g.47326846delG	ENSP00000366265:p.Pro12fs					ZNF41_ENST00000397050.2_Frame_Shift_Del_p.R9fs|ZNF41_ENST00000313116.7_Frame_Shift_Del_p.P12fs|ZNF41_ENST00000465311.1_5'UTR	p.P12fs	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN			2	674	-		all_lung(315;0.000129)	12					A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Frame_Shift_Del	DEL	ENST00000377065.4	37	c.35delC	CCDS14279.1																																																																																				0.612	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380		2	4						2	4	---	---	---	---
