#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
TMPRSS2	7113	broad.mit.edu	37	21	42839793	42839793	+	Silent	SNP	C	C	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr21:42839793C>T	ENST00000332149.5	-	13	1469	c.1335G>A	c.(1333-1335)ctG>ctA	p.L445L	TMPRSS2_ENST00000398585.3_Silent_p.L482L|TMPRSS2_ENST00000458356.1_Silent_p.L445L	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	445	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				TCGAAGTGACCAGAGGCCCTC	0.532			T	"""ERG, ETV1, ETV4, ETV5"""	prostate																																	ENST00000398585.3				Dom	yes		21	21q22.3	7113	T	"""transmembrane protease, serine 2"""			E	"""ERG, ETV1, ETV4, ETV5"""		prostate	TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	0				central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(1444-1446)ctG>ctA		transmembrane protease, serine 2							136.0	124.0	128.0					21																	42839793		2203	4300	6503	SO:0001819	synonymous_variant	0				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:42839793C>T	U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"""Serine peptidases / Transmembrane"""	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.1335G>A	21.37:g.42839793C>T						TMPRSS2_ENST00000458356.1_Silent_p.L445L|TMPRSS2_ENST00000332149.5_Silent_p.L445L	p.L482L	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN			13	1506	-		Prostate(19;4.48e-07)|all_epithelial(19;0.031)	445			Peptidase S1.		A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	Silent	SNP	ENST00000332149.5	37	c.1446G>A	CCDS33564.1																																																																																				0.532	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1			8	78	0	0	0	0.000157383	0	8	78				
FRG1B	284802	broad.mit.edu	37	20	29628246	29628246	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr20:29628246C>A	ENST00000278882.3	+	6	628	c.248C>A	c.(247-249)gCc>gAc	p.A83D	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83D|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88D			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GCTTTGTTGGCCTCAAATAGC	0.353																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)gCc>gAc																																						SO:0001583	missense	0							g.chr20:29628246C>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.248C>A	20.37:g.29628246C>A	ENSP00000278882:p.Ala83Asp					FRG1B_ENST00000439954.2_Missense_Mutation_p.A88D|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83D	p.A83D							6	628	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.248C>A		.	.	.	.	.	.	.	.	.	.	c	16.75	3.210388	0.58343	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50813	0.73	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.63129	0.2485	.	.	.	0.54753	D	0.999987	P;D	0.63880	0.839;0.993	P;D	0.70227	0.834;0.968	T	0.65611	-0.6126	9	0.52906	T	0.07	.	10.2211	0.43198	0.0:1.0:0.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	D	83;88;83	ENSP00000408863:A88D	ENSP00000278882:A83D	A	+	2	0	FRG1B	28241907	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	5.082000	0.64450	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	99	1	0	5.18039e-06	0.000157383	0.000103942	6	99				
RNF113B	140432	broad.mit.edu	37	13	98829414	98829414	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr13:98829414C>A	ENST00000267291.6	-	1	105	c.77G>T	c.(76-78)gGa>gTa	p.G26V	FARP1_ENST00000376586.2_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000319562.6_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	26							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			CCCTTTCCGTCCAGGCTTTTT	0.647																																						ENST00000267291.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(76-78)gGa>gTa		ring finger protein 113B							45.0	43.0	44.0					13																	98829414		2203	4300	6503	SO:0001583	missense	140432						nucleic acid binding|zinc ion binding	g.chr13:98829414C>A	AF539427	CCDS9486.1	13q32.2	2006-08-22	2005-03-22	2005-03-22	ENSG00000139797	ENSG00000139797		"""RING-type (C3HC4) zinc fingers"""	17267	protein-coding gene	gene with protein product			"""zinc finger protein 183-like 1"""	ZNF183L1			Standard	NM_178861		Approved	RNF161	uc001vnk.3	Q8IZP6	OTTHUMG00000017245	ENST00000267291.6:c.77G>T	13.37:g.98829414C>A	ENSP00000267291:p.Gly26Val					FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376581.5_Intron	p.G26V	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.13)		1	105	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		26					Q8WWF9|Q96QY9	Missense_Mutation	SNP	ENST00000267291.6	37	c.77G>T	CCDS9486.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369146	0.42003	.	.	ENSG00000139797	ENST00000267291	T	0.31247	1.5	1.16	1.16	0.20824	.	0.372304	0.24779	U	0.035674	T	0.22282	0.0537	M	0.63428	1.95	0.43489	D	0.995723	P	0.35328	0.495	B	0.28139	0.086	T	0.03933	-1.0991	10	0.29301	T	0.29	.	5.6622	0.17674	0.0:1.0:0.0:0.0	.	26	Q8IZP6	R113B_HUMAN	V	26	ENSP00000267291:G26V	ENSP00000267291:G26V	G	-	2	0	RNF113B	97627415	0.059000	0.20769	0.959000	0.39883	0.816000	0.46133	0.012000	0.13287	0.936000	0.37367	0.484000	0.47621	GGA		0.647	RNF113B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045536.3	NM_178861		5	49	1	0	3.59834e-05	3.59834e-05	0.000678232	5	49				
CHD1L	9557	broad.mit.edu	37	1	146765330	146765330	+	Silent	SNP	T	T	C			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:146765330T>C	ENST00000369258.4	+	21	2450	c.2430T>C	c.(2428-2430)aaT>aaC	p.N810N	CHD1L_ENST00000369259.3_Silent_p.N606N|CHD1L_ENST00000431239.1_Silent_p.N716N|CHD1L_ENST00000361293.5_Silent_p.N529N|CHD1L_ENST00000467213.1_3'UTR	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	810	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					ATCGTTCCAATGTCCTGTCTG	0.463																																						ENST00000369258.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2428-2430)aaT>aaC		chromodomain helicase DNA binding protein 1-like							191.0	185.0	187.0					1																	146765330		2203	4300	6503	SO:0001819	synonymous_variant	9557				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr1:146765330T>C	AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.2430T>C	1.37:g.146765330T>C						CHD1L_ENST00000431239.1_Silent_p.N716N|CHD1L_ENST00000361293.5_Silent_p.N529N|CHD1L_ENST00000369259.3_Silent_p.N606N|CHD1L_ENST00000467213.1_3'UTR	p.N810N	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN			21	2450	+	all_hematologic(923;0.0487)		810			Macro.		A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Silent	SNP	ENST00000369258.4	37	c.2430T>C	CCDS927.1																																																																																				0.463	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284		26	151	0	0	0	0.000339439	0	26	151				
CXCL9	4283	broad.mit.edu	37	4	76924788	76924788	+	Missense_Mutation	SNP	C	C	T	rs139830877		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:76924788C>T	ENST00000264888.5	-	4	379	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	RP11-630D6.5_ENST00000501239.2_RNA	NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9	114					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|defense response (GO:0006952)|defense response to virus (GO:0051607)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|regulation of cell proliferation (GO:0042127)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|cytokine activity (GO:0005125)	p.R114Q(1)		large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTGAGATTTTCGAACTTTCAG	0.338																																						ENST00000264888.5																			1	Substitution - Missense(1)	p.R114Q(1)	large_intestine(1)	large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11						c.(340-342)cGa>cAa		chemokine (C-X-C motif) ligand 9		C	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	182.0	172.0	175.0		341	1.5	0.0	4	dbSNP_134	175	0,8596		0,0,4298	no	missense	CXCL9	NM_002416.1	43	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	benign	114/126	76924788	1,12997	2201	4298	6499	SO:0001583	missense	4283				cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity	g.chr4:76924788C>T	X72755	CCDS34014.1	4q21	2013-02-25	2002-08-22	2002-08-23		ENSG00000138755		"""Endogenous ligands"""	7098	protein-coding gene	gene with protein product		601704	"""monokine induced by gamma interferon"""	CMK, MIG		8476424, 9730616	Standard	NM_002416		Approved	SCYB9, Humig, crg-10	uc003hjh.1	Q07325		ENST00000264888.5:c.341G>A	4.37:g.76924788C>T	ENSP00000354901:p.Arg114Gln					RP11-630D6.5_ENST00000501239.2_RNA	p.R114Q	NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		4	379	-			114					Q503B4	Missense_Mutation	SNP	ENST00000264888.5	37	c.341G>A	CCDS34014.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.648113	0.29336	2.27E-4	0.0	ENSG00000138755	ENST00000264888	T	0.46063	0.88	5.35	1.46	0.22682	.	14.147600	0.00166	N	0.000000	T	0.22166	0.0534	N	0.03608	-0.345	0.09310	N	1	B	0.16802	0.019	B	0.04013	0.001	T	0.15407	-1.0438	10	0.27082	T	0.32	0.4425	6.353	0.21387	0.0:0.3344:0.0:0.6656	.	114	Q07325	CXCL9_HUMAN	Q	114	ENSP00000354901:R114Q	ENSP00000354901:R114Q	R	-	2	0	CXCL9	77143812	0.021000	0.18746	0.014000	0.15608	0.006000	0.05464	0.148000	0.16224	0.209000	0.20645	-0.290000	0.09829	CGA		0.338	CXCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362819.1			7	88	0	0	0	0.000442599	0	7	88				
CDH6	1004	broad.mit.edu	37	5	31323130	31323130	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:31323130C>A	ENST00000265071.2	+	12	2353	c.2088C>A	c.(2086-2088)gcC>gcA	p.A696A		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	696					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGCCCGAAGCCCTTTTCCTAC	0.522																																						ENST00000265071.2																			0				NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(2086-2088)gcC>gcA		cadherin 6, type 2, K-cadherin (fetal kidney)							87.0	81.0	83.0					5																	31323130		2203	4300	6503	SO:0001819	synonymous_variant	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31323130C>A	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.2088C>A	5.37:g.31323130C>A							p.A696A	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN			12	2353	+			696					A8K5H5|Q9BWS0	Silent	SNP	ENST00000265071.2	37	c.2088C>A	CCDS3894.1																																																																																				0.522	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		9	60	1	0	3.07112e-06	0.000978159	6.36745e-05	9	60				
UTP14C	9724	broad.mit.edu	37	13	52603217	52603217	+	Missense_Mutation	SNP	G	G	A	rs545278962	byFrequency	TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr13:52603217G>A	ENST00000521776.2	+	2	1010	c.277G>A	c.(277-279)Gtt>Att	p.V93I	ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	93					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		GCTTGAGCCCGTTAAAACTTC	0.423													g|||	10	0.00199681	0.0	0.0	5008	,	,		19880	0.0		0.0	False		,,,				2504	0.0102					ENST00000521776.2																			0				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(277-279)Gtt>Att		UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)							127.0	133.0	131.0					13																	52603217		2203	4300	6503	SO:0001583	missense	9724				cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome		g.chr13:52603217G>A	D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"""KIAA0266"""	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.277G>A	13.37:g.52603217G>A	ENSP00000428619:p.Val93Ile					ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR	p.V93I	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN		GBM - Glioblastoma multiforme(99;2.3e-08)	2	1010	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	93					Q5FWG3|Q92555	Missense_Mutation	SNP	ENST00000521776.2	37	c.277G>A	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	g	0.006	-2.068885	0.00382	.	.	ENSG00000253797	ENST00000521776	T	0.14516	2.5	2.74	-1.68	0.08212	.	0.605939	0.17786	N	0.162060	T	0.04048	0.0113	N	0.04655	-0.195	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.42447	-0.9451	10	0.05620	T	0.96	3.7176	7.3214	0.26529	0.7313:0.0:0.2687:0.0	.	93	Q5TAP6	UT14C_HUMAN	I	93	ENSP00000428619:V93I	ENSP00000428619:V93I	V	+	1	0	UTP14C	51501218	0.104000	0.21937	0.012000	0.15200	0.328000	0.28507	0.307000	0.19296	-0.427000	0.07350	-0.379000	0.06801	GTT		0.423	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645		21	117	0	0	0	0.000175454	0	21	117				
FLG2	388698	broad.mit.edu	37	1	152329418	152329418	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:152329418A>T	ENST00000388718.5	-	3	916	c.844T>A	c.(844-846)Tat>Aat	p.Y282N	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	282	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAATTGCTATAACCACATGCA	0.428																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(844-846)Tat>Aat		filaggrin family member 2							181.0	165.0	170.0					1																	152329418		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152329418A>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.844T>A	1.37:g.152329418A>T	ENSP00000373370:p.Tyr282Asn					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.Y282N	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	916	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		282			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.844T>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	A	6.762	0.509513	0.12883	.	.	ENSG00000143520	ENST00000388718	T	0.01133	5.29	5.9	1.81	0.25067	.	.	.	.	.	T	0.00300	0.0009	N	0.22421	0.69	0.09310	N	1	P	0.37101	0.582	B	0.28011	0.085	T	0.41142	-0.9525	9	0.27082	T	0.32	-0.3416	5.6986	0.17869	0.558:0.151:0.0:0.291	.	282	Q5D862	FILA2_HUMAN	N	282	ENSP00000373370:Y282N	ENSP00000373370:Y282N	Y	-	1	0	FLG2	150596042	0.001000	0.12720	0.001000	0.08648	0.117000	0.20001	1.002000	0.29796	1.036000	0.39998	0.528000	0.53228	TAT		0.428	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		33	157	0	0	0	0.000814825	0	33	157				
RGAG4	340526	broad.mit.edu	37	X	71349790	71349790	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chrX:71349790C>T	ENST00000545866.1	-	1	1968	c.1601G>A	c.(1600-1602)cGc>cAc	p.R534H	RGAG4_ENST00000609883.1_Missense_Mutation_p.R534H|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	534										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					ACGACCTGTGCGGCGAATCAG	0.587																																						ENST00000545866.1																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24						c.(1600-1602)cGc>cAc		retrotransposon gag domain containing 4							47.0	49.0	48.0					X																	71349790		1954	4119	6073	SO:0001583	missense	340526							g.chrX:71349790C>T	AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.1601G>A	X.37:g.71349790C>T	ENSP00000441366:p.Arg534His					NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Missense_Mutation_p.R534H	p.R534H			Q5HYW3	RGAG4_HUMAN			1	1968	-	Renal(35;0.156)		534					A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	37	c.1601G>A	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	C	6.401	0.442073	0.12164	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.12465	2.68;2.68	4.11	1.32	0.21799	.	.	.	.	.	T	0.05686	0.0149	N	0.08118	0	0.09310	N	1	B	0.18310	0.027	B	0.08055	0.003	T	0.43988	-0.9357	8	.	.	.	-0.5526	5.3655	0.16111	0.0:0.5996:0.0:0.4004	.	534	Q5HYW3	RGAG4_HUMAN	H	534	ENSP00000441366:R534H;ENSP00000418667:R534H	.	R	-	2	0	RGAG4	71266515	0.209000	0.23505	0.010000	0.14722	0.017000	0.09413	0.307000	0.19296	0.141000	0.18875	0.513000	0.50165	CGC		0.587	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		5	16	0	0	0	3.59834e-05	0	5	16				
BRS3	680	broad.mit.edu	37	X	135572582	135572582	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chrX:135572582G>A	ENST00000370648.3	+	2	953	c.725G>A	c.(724-726)aGg>aAg	p.R242K		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	242					adult feeding behavior (GO:0008343)|glucose metabolic process (GO:0006006)|regulation of blood pressure (GO:0008217)	integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TTGATTGCTAGGACCCTTTAC	0.388																																						ENST00000370648.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23						c.(724-726)aGg>aAg		bombesin-like receptor 3							79.0	74.0	76.0					X																	135572582		2203	4299	6502	SO:0001583	missense	680				adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity	g.chrX:135572582G>A		CCDS14656.1	Xq26.3	2014-02-21			ENSG00000102239	ENSG00000102239		"""GPCR / Class A : Bombesin receptors"""	1113	protein-coding gene	gene with protein product		300107				8383682	Standard	NM_001727		Approved	BB3	uc004ezv.1	P32247	OTTHUMG00000022726	ENST00000370648.3:c.725G>A	X.37:g.135572582G>A	ENSP00000359682:p.Arg242Lys						p.R242K	NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN			2	953	+	Acute lymphoblastic leukemia(192;0.000127)		242						Missense_Mutation	SNP	ENST00000370648.3	37	c.725G>A	CCDS14656.1	.	.	.	.	.	.	.	.	.	.	G	6.919	0.539156	0.13250	.	.	ENSG00000102239	ENST00000370648	T	0.38401	1.14	5.45	1.69	0.24217	GPCR, rhodopsin-like superfamily (1);	0.279698	0.35970	N	0.002867	T	0.21186	0.0510	N	0.25094	0.71	0.32089	N	0.592179	B	0.09022	0.002	B	0.15052	0.012	T	0.17961	-1.0352	10	0.24483	T	0.36	-2.1984	8.7869	0.34825	0.3786:0.0:0.6214:0.0	.	242	P32247	BRS3_HUMAN	K	242	ENSP00000359682:R242K	ENSP00000359682:R242K	R	+	2	0	BRS3	135400248	0.011000	0.17503	0.898000	0.35279	0.987000	0.75469	-0.004000	0.12878	0.142000	0.18901	-0.192000	0.12808	AGG		0.388	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059005.1	NM_001727		13	20	0	0	0	0.000219431	0	13	20				
DHX33	56919	broad.mit.edu	37	17	5366889	5366889	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:5366889G>C	ENST00000225296.3	-	2	610	c.410C>G	c.(409-411)aCt>aGt	p.T137S	DHX33_ENST00000433302.3_Intron	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	137	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				positive regulation of transcription from RNA polymerase I promoter (GO:0045943)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|rDNA binding (GO:0000182)			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGAGACTCTAGTAGCAAGAGA	0.512																																						ENST00000225296.3																			0				breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(409-411)aCt>aGt		DEAH (Asp-Glu-Ala-His) box polypeptide 33							121.0	116.0	118.0					17																	5366889		2203	4300	6503	SO:0001583	missense	56919					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:5366889G>C	AL359945	CCDS11072.1	17p13	2003-06-13	2003-06-13	2003-06-13	ENSG00000005100	ENSG00000005100		"""DEAH-boxes"""	16718	protein-coding gene	gene with protein product		614405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33"""	DDX33			Standard	NM_020162		Approved	FLJ21972, DKFZp762F2011	uc002gca.3	Q9H6R0	OTTHUMG00000102041	ENST00000225296.3:c.410C>G	17.37:g.5366889G>C	ENSP00000225296:p.Thr137Ser					DHX33_ENST00000433302.3_Intron	p.T137S	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN			2	610	-			137			Helicase ATP-binding.		B4DHF9|Q4G149|Q5CZ73|Q9H5M9	Missense_Mutation	SNP	ENST00000225296.3	37	c.410C>G	CCDS11072.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354833	0.41700	.	.	ENSG00000005100	ENST00000225296	T	0.07688	3.17	5.04	5.04	0.67666	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.157579	0.56097	D	0.000028	T	0.08626	0.0214	L	0.27053	0.805	0.80722	D	1	B	0.17038	0.02	B	0.15870	0.014	T	0.15694	-1.0428	10	0.62326	D	0.03	.	17.3684	0.87369	0.0:0.0:1.0:0.0	.	137	Q9H6R0	DHX33_HUMAN	S	137	ENSP00000225296:T137S	ENSP00000225296:T137S	T	-	2	0	DHX33	5307613	0.837000	0.29446	0.980000	0.43619	0.997000	0.91878	3.885000	0.56182	2.340000	0.79590	0.563000	0.77884	ACT		0.512	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219826.2	NM_020162		3	157	0	0	0	0.00024832	0	3	157				
PCDHB10	56126	broad.mit.edu	37	5	140572969	140572969	+	Missense_Mutation	SNP	T	T	G	rs143726447	byFrequency	TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:140572969T>G	ENST00000239446.4	+	1	1028	c.844T>G	c.(844-846)Ttt>Gtt	p.F282V		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	282	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTATTCATTTTTTGATGCCTC	0.393																																						ENST00000239446.4																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(844-846)Ttt>Gtt									77.0	82.0	80.0					5																	140572969		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140572969T>G	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.844T>G	5.37:g.140572969T>G	ENSP00000239446:p.Phe282Val						p.F282V	NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1028	+			282			Cadherin 3.		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.844T>G	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	T	9.101	1.004256	0.19199	.	.	ENSG00000120324	ENST00000239446	T	0.01647	4.71	3.41	3.41	0.39046	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01870	0.0059	N	0.13272	0.32	0.19775	N	0.99996	P	0.41848	0.763	P	0.49421	0.61	T	0.50516	-0.8819	9	0.35671	T	0.21	.	2.2733	0.04096	0.2348:0.1708:0.0:0.5944	.	282	Q9UN67	PCDBA_HUMAN	V	282	ENSP00000239446:F282V	ENSP00000239446:F282V	F	+	1	0	PCDHB10	140553153	0.045000	0.20229	1.000000	0.80357	0.344000	0.29017	1.263000	0.33004	1.572000	0.49736	0.454000	0.30748	TTT		0.393	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		12	58	0	0	0	0.000151284	0	12	58				
SHOX	6473	broad.mit.edu	37	X	591826	591826	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chrX:591826A>T	ENST00000554971.1	+	1	285	c.194A>T	c.(193-195)cAc>cTc	p.H65L	SHOX_ENST00000381575.1_Missense_Mutation_p.H65L|SHOX_ENST00000334060.3_Missense_Mutation_p.H65L|SHOX_ENST00000381578.1_Missense_Mutation_p.H65L			O15266	SHOX_HUMAN	short stature homeobox	65					skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCGGCGGCCACTGCCCGGTG	0.587																																					Ovarian(95;18 1419 12424 14056 28266)	ENST00000381578.1																			0				endometrium(3)|lung(9)|prostate(1)	13						c.(193-195)cAc>cTc		short stature homeobox							76.0	92.0	86.0					X																	591826		2203	4296	6499	SO:0001583	missense	6473				skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:591826A>T	U82668	CCDS14106.1, CCDS14107.1	Xp22.33 and Yp11.32	2014-07-16			ENSG00000185960	ENSG00000185960		"""Pseudoautosomal regions / PAR1"", ""Homeoboxes / PRD class"""	10853	protein-coding gene	gene with protein product		312865, 400020				9259282, 9140395	Standard	XR_247282		Approved	PHOG, GCFX, SS, SHOXY	uc004cph.1	O15266	OTTHUMG00000021053	ENST00000554971.1:c.194A>T	X.37:g.591826A>T	ENSP00000452016:p.His65Leu					SHOX_ENST00000334060.3_Missense_Mutation_p.H65L|SHOX_ENST00000381575.1_Missense_Mutation_p.H65L|SHOX_ENST00000554971.1_Missense_Mutation_p.H65L	p.H65L	NM_000451.3	NP_000442.1	O15266	SHOX_HUMAN			2	885	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	65					O00412|O00413|O15267	Missense_Mutation	SNP	ENST00000554971.1	37	c.194A>T	CCDS14107.1	.	.	.	.	.	.	.	.	.	.	A	0.141	-1.102484	0.01828	.	.	ENSG00000185960	ENST00000334060;ENST00000381578;ENST00000554971;ENST00000381575	D;D;D;D	0.94092	-3.35;-3.22;-3.22;-3.35	2.26	0.809	0.18725	.	0.532229	0.16071	N	0.231003	D	0.87398	0.6167	L	0.54323	1.7	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.70920	-0.4741	10	0.16420	T	0.52	.	3.9423	0.09333	0.6574:0.2124:0.1302:0.0	.	65;65	O15266-2;O15266	.;SHOX_HUMAN	L	65	ENSP00000335505:H65L;ENSP00000370990:H65L;ENSP00000452016:H65L;ENSP00000370987:H65L	ENSP00000335505:H65L	H	+	2	0	SHOX	511826	1.000000	0.71417	0.966000	0.40874	0.399000	0.30720	4.031000	0.57267	0.631000	0.30412	0.227000	0.17789	CAC		0.587	SHOX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411999.3	NM_000451		22	141	0	0	0	0.000295444	0	22	141				
LILRB5	10990	broad.mit.edu	37	19	54754843	54754843	+	Intron	SNP	A	A	G			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:54754843A>G	ENST00000316219.5	-	13	1734				CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000450632.1_Missense_Mutation_p.S598P|LILRB5_ENST00000449561.2_Intron	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607																																						ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1792-1794)Tcc>Ccc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							43.0	42.0	42.0					19																	54754843		2191	4270	6461	SO:0001627	intron_variant	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54754843A>G	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1627-47T>C	19.37:g.54754843A>G						LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron	p.S598P			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	13	1869	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		423					Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.1792T>C	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	A	10.02	1.237390	0.22711	.	.	ENSG00000105609	ENST00000450632	T	0.00497	6.98	1.74	-0.656	0.11436	.	.	.	.	.	T	0.00328	0.0010	.	.	.	0.09310	N	1	B	0.24576	0.106	B	0.17433	0.018	T	0.45702	-0.9243	8	0.87932	D	0	.	1.6956	0.02861	0.475:0.0:0.2022:0.3228	.	598	C9JMK7	.	P	598	ENSP00000414225:S598P	ENSP00000414225:S598P	S	-	1	0	LILRB5	59446655	0.000000	0.05858	0.043000	0.18650	0.608000	0.37181	-0.873000	0.04214	-0.256000	0.09473	0.332000	0.21555	TCC		0.607	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			4	48	0	0	0	0.000157383	0	4	48				
HEPHL1	341208	broad.mit.edu	37	11	93796817	93796817	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:93796817C>A	ENST00000315765.9	+	3	567	c.559C>A	c.(559-561)Cat>Aat	p.H187N		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	187	Plastocyanin-like 1.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CTGGGTGTACCATTCGCACAT	0.542																																						ENST00000315765.9																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(559-561)Cat>Aat		hephaestin-like 1							106.0	106.0	106.0					11																	93796817		1977	4164	6141	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93796817C>A	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.559C>A	11.37:g.93796817C>A	ENSP00000313699:p.His187Asn						p.H187N	NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN			3	567	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	187			Plastocyanin-like 1.		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.559C>A	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	C	31	5.064979	0.93898	.	.	ENSG00000181333	ENST00000315765	D	0.99816	-6.91	5.42	5.42	0.78866	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99914	0.9959	H	0.98866	4.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96070	0.9045	10	0.87932	D	0	.	19.2305	0.93836	0.0:1.0:0.0:0.0	.	187	Q6MZM0	HPHL1_HUMAN	N	187	ENSP00000313699:H187N	ENSP00000313699:H187N	H	+	1	0	HEPHL1	93436465	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.832000	0.69337	2.549000	0.85964	0.655000	0.94253	CAT		0.542	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		21	112	1	0	8.34094e-07	0.000132079	1.78899e-05	21	112				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	36	0	0	0	0.00024832	0	3	36				
GRIN2A	2903	broad.mit.edu	37	16	10032075	10032075	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:10032075C>T	ENST00000396573.2	-	4	1057	c.748G>A	c.(748-750)Ggg>Agg	p.G250R	GRIN2A_ENST00000330684.3_Missense_Mutation_p.G250R|GRIN2A_ENST00000396575.2_Missense_Mutation_p.G250R|GRIN2A_ENST00000562109.1_Missense_Mutation_p.G250R|GRIN2A_ENST00000535259.1_Missense_Mutation_p.G93R|GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000404927.2_Missense_Mutation_p.G250R	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	250					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AAATCATACCCGGTGAGGCCA	0.512																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(748-750)Ggg>Agg		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						66.0	61.0	63.0					16																	10032075		2197	4300	6497	SO:0001583	missense	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:10032075C>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.748G>A	16.37:g.10032075C>T	ENSP00000379818:p.Gly250Arg					GRIN2A_ENST00000330684.3_Missense_Mutation_p.G250R|GRIN2A_ENST00000404927.2_Missense_Mutation_p.G250R|GRIN2A_ENST00000535259.1_Missense_Mutation_p.G93R|GRIN2A_ENST00000562109.1_Missense_Mutation_p.G250R|GRIN2A_ENST00000396575.2_Missense_Mutation_p.G250R|GRIN2A_ENST00000566670.1_5'UTR	p.G250R	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			4	1057	-			250					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.748G>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	c	29.7	5.028958	0.93518	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	D;D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52;-2.52	5.2	5.2	0.72013	Extracellular ligand-binding receptor (1);	0.050671	0.85682	D	0.000000	D	0.95204	0.8445	M	0.87758	2.905	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.933;0.978;1.0	D	0.95374	0.8467	9	.	.	.	.	18.0961	0.89490	0.0:1.0:0.0:0.0	.	93;250;250	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	R	250;250;93;250;250	ENSP00000379818:G250R;ENSP00000385872:G250R;ENSP00000441572:G93R;ENSP00000332549:G250R;ENSP00000379820:G250R	.	G	-	1	0	GRIN2A	9939576	1.000000	0.71417	0.915000	0.36163	0.985000	0.73830	7.665000	0.83852	2.582000	0.87167	0.561000	0.74099	GGG		0.512	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			9	71	0	0	0	0.000673444	0	9	71				
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632																																						ENST00000361883.5																			11	Substitution - Missense(11)	p.I88T(11)	lung(7)|kidney(1)|prostate(1)|endometrium(1)|central_nervous_system(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17						c.(262-264)aTc>aCc		keratin associated protein 1-5							26.0	30.0	28.0					17																	39183145		2054	4217	6271	SO:0001583	missense	83895					keratin filament		g.chr17:39183145A>G	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.263T>C	17.37:g.39183145A>G	ENSP00000355302:p.Ile88Thr						p.I88T	NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	309	-		Breast(137;0.00043)	88			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Missense_Mutation	SNP	ENST00000361883.5	37	c.263T>C	CCDS42321.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.877501	0.00061	.	.	ENSG00000221852	ENST00000361883;ENST00000543389	T	0.25579	1.79	2.87	0.645	0.17782	.	.	.	.	.	T	0.03178	0.0093	N	0.00055	-2.375	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38650	-0.9651	9	0.05721	T	0.95	.	2.2484	0.04037	0.117:0.3609:0.3383:0.1838	.	88	Q9BYS1	KRA15_HUMAN	T	88;78	ENSP00000355302:I88T	ENSP00000355302:I88T	I	-	2	0	KRTAP1-5	36436671	0.730000	0.28100	0.005000	0.12908	0.023000	0.10783	0.636000	0.24644	-0.052000	0.13311	-0.215000	0.12644	ATC		0.632	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			3	62	0	0	0	0.00024832	0	3	62				
PCDHA1	56147	broad.mit.edu	37	5	140166008	140166008	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:140166008G>A	ENST00000504120.2	+	1	133	c.133G>A	c.(133-135)Gtt>Att	p.V45I	PCDHA1_ENST00000394633.3_Missense_Mutation_p.V45I|PCDHA1_ENST00000378133.3_Missense_Mutation_p.V45I	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	45	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCACCTTCGTTGGCCGCGT	0.637																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(133-135)Gtt>Att									49.0	55.0	53.0					5																	140166008		2203	4300	6503	SO:0001583	missense	0							g.chr5:140166008G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.133G>A	5.37:g.140166008G>A	ENSP00000420840:p.Val45Ile					PCDHA1_ENST00000394633.3_Missense_Mutation_p.V45I|PCDHA1_ENST00000378133.3_Missense_Mutation_p.V45I	p.V45I	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	133	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.133G>A	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	18.86	3.712806	0.68730	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.49139	0.79;0.79;0.79	4.53	4.53	0.55603	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	0.000000	0.38720	U	0.001583	T	0.67411	0.2890	M	0.66439	2.03	0.33835	D	0.63072	D;D;D	0.63880	0.967;0.993;0.98	D;D;P	0.75020	0.96;0.985;0.835	T	0.78473	-0.2190	10	0.87932	D	0	.	17.6095	0.88048	0.0:0.0:1.0:0.0	.	45;45;45	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	I	45	ENSP00000420840:V45I;ENSP00000378129:V45I;ENSP00000367373:V45I	ENSP00000367373:V45I	V	+	1	0	PCDHA1	140146192	1.000000	0.71417	1.000000	0.80357	0.485000	0.33311	5.555000	0.67301	2.246000	0.74042	0.650000	0.86243	GTT		0.637	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		20	64	0	0	0	0.000295444	0	20	64				
FOXA1	3169	broad.mit.edu	37	14	38061705	38061705	+	Missense_Mutation	SNP	C	C	G	rs201419897		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr14:38061705C>G	ENST00000250448.2	-	2	345	c.284G>C	c.(283-285)aGc>aCc	p.S95T	FOXA1_ENST00000540786.1_Missense_Mutation_p.S62T|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	95					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CGCAGTCATGCTGTTCATGGC	0.721																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(283-285)aGc>aCc		forkhead box A1																																				SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061705C>G	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.284G>C	14.37:g.38061705C>G	ENSP00000250448:p.Ser95Thr					FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.S62T	p.S95T	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	345	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		95					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.284G>C	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805163	0.50315	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	T;T	0.18338	2.22;2.22	3.88	2.01	0.26516	Fork-head N-terminal (1);	0.441308	0.24920	N	0.034551	T	0.11110	0.0271	L	0.34521	1.04	0.32338	N	0.560216	B	0.02656	0.0	B	0.06405	0.002	T	0.26430	-1.0103	10	0.15499	T	0.54	.	9.3552	0.38161	0.151:0.5561:0.2929:0.0	.	95	P55317	FOXA1_HUMAN	T	95;62	ENSP00000250448:S95T;ENSP00000440178:S62T	ENSP00000250448:S95T	S	-	2	0	FOXA1	37131456	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	4.540000	0.60664	0.298000	0.22638	0.511000	0.50034	AGC		0.721	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			12	35	0	0	0	0.00010058	0	12	35				
FRRS1L	23732	broad.mit.edu	37	9	111909389	111909389	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:111909389T>C	ENST00000561981.2	-	3	556	c.557A>G	c.(556-558)gAg>gGg	p.E186G		NM_014334.2	NP_055149.2	Q9P0K9	FRS1L_HUMAN	ferric-chelate reductase 1-like	186	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)											TGCACTCAGCTCAAATTCTAC	0.418																																						ENST00000374581.3																			0											c.(556-558)gAg>gGg		ferric-chelate reductase 1-like							185.0	168.0	174.0					9																	111909389		2203	4300	6503	SO:0001583	missense	23732					integral to membrane		g.chr9:111909389T>C	AF155065	CCDS35098.1	9q31.3	2014-07-16	2012-03-06	2012-03-06	ENSG00000260230	ENSG00000260230			1362	protein-coding gene	gene with protein product		604574	"""chromosome 9 open reading frame 4"""	C9orf4		10603000	Standard	NM_014334		Approved	CG-6	uc004bdw.1	Q9P0K9	OTTHUMG00000020468	ENST00000561981.2:c.557A>G	9.37:g.111909389T>C	ENSP00000477141:p.Glu186Gly						p.E186G	NM_014334.2	NP_055149.2	Q9P0K9	CI004_HUMAN			3	556	-			186			DOMON.		Q5T4G4	Missense_Mutation	SNP	ENST00000561981.2	37	c.557A>G	CCDS35098.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.931630	0.92389	.	.	ENSG00000136805	ENST00000374581	T	0.79845	-1.31	5.67	5.67	0.87782	DOMON domain (3);	0.000000	0.85682	D	0.000000	D	0.88672	0.6500	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89685	0.3893	10	0.72032	D	0.01	-8.6354	15.9192	0.79547	0.0:0.0:0.0:1.0	.	186	Q9P0K9	CI004_HUMAN	G	186	ENSP00000363709:E186G	ENSP00000363709:E186G	E	-	2	0	C9orf4	110949210	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.608000	0.82898	2.179000	0.69175	0.528000	0.53228	GAG		0.418	FRRS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053586.2	NM_014334		3	112	0	0	0	6.4e-05	0	3	112				
ZNF287	57336	broad.mit.edu	37	17	16467045	16467045	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:16467045G>A	ENST00000395824.1	-	4	1213	c.596C>T	c.(595-597)aCg>aTg	p.T199M	ZNF287_ENST00000395825.3_Missense_Mutation_p.T199M			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	192	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		GTTCTGTAACGTCACAGTCTT	0.458																																						ENST00000395824.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20						c.(595-597)aCg>aTg		zinc finger protein 287							218.0	149.0	172.0					17																	16467045		2203	4300	6503	SO:0001583	missense	57336				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:16467045G>A	AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.596C>T	17.37:g.16467045G>A	ENSP00000379168:p.Thr199Met					ZNF287_ENST00000395825.3_Missense_Mutation_p.T199M	p.T199M			Q9HBT7	ZN287_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.083)	4	1213	-			192			KRAB.		Q6IAG1	Missense_Mutation	SNP	ENST00000395824.1	37	c.596C>T	CCDS11179.2	.	.	.	.	.	.	.	.	.	.	G	4.224	0.040439	0.08148	.	.	ENSG00000141040	ENST00000395825;ENST00000395824	T;T	0.01076	5.37;5.37	4.05	4.05	0.47172	Krueppel-associated box (4);	0.000000	0.46758	D	0.000265	T	0.00845	0.0028	N	0.00252	-1.77	0.31570	N	0.656495	D	0.89917	1.0	D	0.87578	0.998	T	0.58651	-0.7599	10	0.02654	T	1	.	12.0322	0.53403	0.0:0.0:1.0:0.0	.	192	Q9HBT7	ZN287_HUMAN	M	199	ENSP00000379169:T199M;ENSP00000379168:T199M	ENSP00000379168:T199M	T	-	2	0	ZNF287	16407770	0.882000	0.30256	0.783000	0.31826	0.520000	0.34377	2.451000	0.44952	2.539000	0.85634	0.655000	0.94253	ACG		0.458	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1			23	58	0	0	0	0.000229342	0	23	58				
BAI3	577	broad.mit.edu	37	6	70071267	70071267	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:70071267G>A	ENST00000370598.1	+	29	4923	c.4102G>A	c.(4102-4104)Gca>Aca	p.A1368T	BAI3_ENST00000238918.8_Missense_Mutation_p.A574T|BAI3_ENST00000546190.1_Missense_Mutation_p.A332T	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1368					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCAACATCTCGCACCCCAGGA	0.438																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(4102-4104)Gca>Aca		brain-specific angiogenesis inhibitor 3							121.0	124.0	123.0					6																	70071267		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70071267G>A	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.4102G>A	6.37:g.70071267G>A	ENSP00000359630:p.Ala1368Thr					BAI3_ENST00000546190.1_Missense_Mutation_p.A332T|BAI3_ENST00000238918.8_Missense_Mutation_p.A574T	p.A1368T	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			29	4923	+		all_lung(197;0.212)	1368					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.4102G>A	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.879261	0.33162	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.05580	3.42;3.42;3.42	5.8	3.75	0.43078	.	0.290167	0.39020	N	0.001493	T	0.00845	0.0028	N	0.03608	-0.345	0.28624	N	0.908016	B;B	0.21688	0.002;0.059	B;B	0.13407	0.001;0.009	T	0.48670	-0.9015	10	0.21014	T	0.42	.	9.0922	0.36619	0.0973:0.3308:0.5719:0.0	.	574;1368	B7Z356;O60242	.;BAI3_HUMAN	T	1368;574;332	ENSP00000359630:A1368T;ENSP00000238918:A574T;ENSP00000441821:A332T	ENSP00000238918:A574T	A	+	1	0	BAI3	70127988	0.998000	0.40836	0.737000	0.30932	0.802000	0.45316	2.851000	0.48302	0.599000	0.29845	0.650000	0.86243	GCA		0.438	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			29	155	0	0	0	0.000409698	0	29	155				
FBXL17	64839	broad.mit.edu	37	5	107216868	107216868	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:107216868A>G	ENST00000542267.1	-	8	2241	c.1835T>C	c.(1834-1836)aTt>aCt	p.I612T	FBXL17_ENST00000359660.5_Missense_Mutation_p.I214T|FBXL17_ENST00000496714.1_Missense_Mutation_p.I214T	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	612										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		GTATCGCCCAATGGCTATCAG	0.453																																						ENST00000542267.1																			0				endometrium(1)|large_intestine(4)|lung(1)	6						c.(1834-1836)aTt>aCt		F-box and leucine-rich repeat protein 17							140.0	129.0	132.0					5																	107216868		2202	4300	6502	SO:0001583	missense	64839							g.chr5:107216868A>G	AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743		"""F-boxes / Leucine-rich repeats"""	13615	protein-coding gene	gene with protein product		609083	"""F-box only protein 13"""	FBXO13			Standard	NM_001163315		Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000542267.1:c.1835T>C	5.37:g.107216868A>G	ENSP00000437464:p.Ile612Thr					FBXL17_ENST00000496714.1_Missense_Mutation_p.I214T|FBXL17_ENST00000359660.5_Missense_Mutation_p.I214T	p.I612T	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)	8	2241	-		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)	612					A1A4E3	Missense_Mutation	SNP	ENST00000542267.1	37	c.1835T>C	CCDS54886.1	.	.	.	.	.	.	.	.	.	.	A	19.86	3.905940	0.72868	.	.	ENSG00000145743	ENST00000359660;ENST00000542267;ENST00000496714	T;T;T	0.02787	4.16;4.16;4.16	6.17	4.99	0.66335	.	0.076690	0.56097	D	0.000033	T	0.13114	0.0318	M	0.84156	2.68	0.45161	D	0.998176	D;D	0.57257	0.979;0.975	P;P	0.57960	0.681;0.83	T	0.00268	-1.1862	10	0.87932	D	0	.	12.7809	0.57476	0.8771:0.0:0.0:0.1228	.	612;214	Q9UF56;Q9UF56-2	FXL17_HUMAN;.	T	214;612;214	ENSP00000352683:I214T;ENSP00000437464:I612T;ENSP00000418111:I214T	ENSP00000352683:I214T	I	-	2	0	FBXL17	107244767	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.927000	0.92846	1.105000	0.41606	0.533000	0.62120	ATT		0.453	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				24	103	0	0	0	0.000878237	0	24	103				
PRC1	9055	broad.mit.edu	37	15	91524744	91524744	+	Silent	SNP	T	T	C			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:91524744T>C	ENST00000361188.5	-	5	1868	c.657A>G	c.(655-657)caA>caG	p.Q219Q	PRC1_ENST00000394249.3_Silent_p.Q219Q|PRC1_ENST00000442656.2_Silent_p.Q178Q|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000556129.1_5'Flank|PRC1_ENST00000361919.3_Silent_p.Q219Q					protein regulator of cytokinesis 1											endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					GTAGCAACTTTTGTAGTGTTG	0.408																																						ENST00000361188.5																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25						c.(655-657)caA>caG		protein regulator of cytokinesis 1							131.0	118.0	123.0					15																	91524744		2198	4298	6496	SO:0001819	synonymous_variant	9055				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding	g.chr15:91524744T>C	AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"""anaphase spindle elongation 1 homolog (S. cerevisiae)"""	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.657A>G	15.37:g.91524744T>C						PRC1_ENST00000361919.3_Silent_p.Q219Q|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000394249.3_Silent_p.Q219Q|PRC1_ENST00000442656.2_Silent_p.Q178Q	p.Q219Q			O43663	PRC1_HUMAN			5	1868	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		219			Dimerization.			Silent	SNP	ENST00000361188.5	37	c.657A>G	CCDS45352.1																																																																																				0.408	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981		4	57	0	0	0	3.59834e-05	0	4	57				
MIEF1	54471	broad.mit.edu	37	22	39910032	39910032	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr22:39910032A>T	ENST00000325301.2	+	6	1520	c.1096A>T	c.(1096-1098)Atc>Ttc	p.I366F	MIEF1_ENST00000402881.1_Missense_Mutation_p.I366F|MIEF1_ENST00000404569.1_Missense_Mutation_p.I366F	NM_019008.4	NP_061881.2	Q9NQG6	MID51_HUMAN	mitochondrial elongation factor 1	366					mitochondrial fission (GO:0000266)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|GDP binding (GO:0019003)|identical protein binding (GO:0042802)										GTGCCTCAAGATCCTCAAGGC	0.642											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000325301.2																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)	16						c.(1096-1098)Atc>Ttc									65.0	57.0	60.0					22																	39910032		2203	4300	6503	SO:0001583	missense	0					integral to membrane|mitochondrion		g.chr22:39910032A>T	AL365515	CCDS13995.1	22q13.1	2013-09-23	2013-09-23	2013-09-23	ENSG00000100335	ENSG00000100335			25979	protein-coding gene	gene with protein product		615497	"""Smith-Magenis syndrome chromosome region, candidate 7-like"""	SMCR7L		21508961, 21701560	Standard	NM_019008		Approved	FLJ20232, MiD51	uc003axx.3	Q9NQG6	OTTHUMG00000151105	ENST00000325301.2:c.1096A>T	22.37:g.39910032A>T	ENSP00000327124:p.Ile366Phe		OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	889	SMCR7L_ENST00000404569.1_Missense_Mutation_p.I366F|SMCR7L_ENST00000402881.1_Missense_Mutation_p.I366F	p.I366F	NM_019008.4	NP_061881.2	Q9NQG6	SMC7L_HUMAN			6	1520	+	Melanoma(58;0.04)		366					Q7L890|Q9BUI3	Missense_Mutation	SNP	ENST00000325301.2	37	c.1096A>T	CCDS13995.1	.	.	.	.	.	.	.	.	.	.	A	16.38	3.108205	0.56291	.	.	ENSG00000100335	ENST00000402881;ENST00000325301;ENST00000404569	T;T;T	0.10477	2.87;2.87;2.87	6.07	5.03	0.67393	.	0.149661	0.64402	D	0.000009	T	0.18964	0.0455	M	0.63843	1.955	0.58432	D	0.999996	B;P	0.43542	0.395;0.81	B;P	0.47528	0.261;0.549	T	0.00363	-1.1788	10	0.56958	D	0.05	-22.229	12.4059	0.55439	0.9338:0.0:0.0662:0.0	.	366;366	Q9NQG6;B0QY95	MID51_HUMAN;.	F	366	ENSP00000385110:I366F;ENSP00000327124:I366F;ENSP00000385191:I366F	ENSP00000327124:I366F	I	+	1	0	SMCR7L	38239978	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.903000	0.48711	2.326000	0.78906	0.533000	0.62120	ATC		0.642	MIEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321325.1	NM_019008		14	74	0	0	0	0.000566183	0	14	74				
ZCCHC16	340595	broad.mit.edu	37	X	111698033	111698033	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chrX:111698033G>A	ENST00000340433.2	+	1	307	c.77G>A	c.(76-78)cGg>cAg	p.R26Q		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	26							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTGATTCTGCGGCTTCAAATG	0.507																																						ENST00000340433.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(76-78)cGg>cAg		zinc finger, CCHC domain containing 16							104.0	83.0	90.0					X																	111698033		2203	4300	6503	SO:0001583	missense	340595						nucleic acid binding|zinc ion binding	g.chrX:111698033G>A	AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"""Zinc fingers, CCHC domain containing"""	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.77G>A	X.37:g.111698033G>A	ENSP00000340590:p.Arg26Gln						p.R26Q	NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN			1	307	+			26					B2RPG1	Missense_Mutation	SNP	ENST00000340433.2	37	c.77G>A	CCDS35369.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.272347	0.00257	.	.	ENSG00000187823	ENST00000340433	T	0.40476	1.03	4.19	0.132	0.14762	.	1.168870	0.06734	N	0.777208	T	0.15609	0.0376	N	0.04203	-0.255	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.24012	-1.0172	10	0.02654	T	1	0.0024	3.2923	0.06953	0.5601:0.2067:0.2332:0.0	.	26	Q6ZR62	ZCH16_HUMAN	Q	26	ENSP00000340590:R26Q	ENSP00000340590:R26Q	R	+	2	0	ZCCHC16	111584689	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.224000	0.09164	-0.036000	0.13669	-0.354000	0.07668	CGG		0.507	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356964.1	NM_001004308		14	44	0	0	0	0.000219431	0	14	44				
SPRR2G	6706	broad.mit.edu	37	1	153122527	153122527	+	Silent	SNP	C	C	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:153122527C>T	ENST00000368748.4	-	2	98	c.60G>A	c.(58-60)acG>acA	p.T20T		NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	small proline-rich protein 2G	20					epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCACTTTGGCGTGGGGCACA	0.577																																						ENST00000368748.4																			0				endometrium(1)|lung(1)|skin(1)	3						c.(58-60)acG>acA		small proline-rich protein 2G							128.0	101.0	111.0					1																	153122527		2203	4298	6501	SO:0001819	synonymous_variant	0				keratinization	cornified envelope|cytoplasm		g.chr1:153122527C>T	AF333957	CCDS30868.1	1q21-q22	2008-02-05			ENSG00000159516	ENSG00000159516			11267	protein-coding gene	gene with protein product						8325635, 11279051	Standard	NM_001014291		Approved		uc009wod.2	Q9BYE4	OTTHUMG00000014399	ENST00000368748.4:c.60G>A	1.37:g.153122527C>T							p.T20T	NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	98	-	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		20						Silent	SNP	ENST00000368748.4	37	c.60G>A	CCDS30868.1																																																																																				0.577	SPRR2G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040057.1			13	122	0	0	0	0.000151284	0	13	122				
CYP4F11	57834	broad.mit.edu	37	19	16040400	16040400	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:16040400C>A	ENST00000402119.4	-	2	636	c.210G>T	c.(208-210)acG>acT	p.T70T	CYP4F11_ENST00000591841.1_5'Flank|CYP4F11_ENST00000326742.8_Silent_p.T70T|CYP4F11_ENST00000248041.8_Silent_p.T70T	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TGCCCTCTTCCGTGGGAGTGA	0.517																																						ENST00000326742.7																			0				NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						c.(208-210)acG>acT		cytochrome P450, family 4, subfamily F, polypeptide 11							118.0	118.0	118.0					19																	16040400		2203	4300	6503	SO:0001819	synonymous_variant	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16040400C>A	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.210G>T	19.37:g.16040400C>A						CYP4F11_ENST00000248041.7_Silent_p.T70T|CYP4F11_ENST00000402119.3_Silent_p.T70T	p.T70T			Q9HBI6	CP4FB_HUMAN			2	211	-			70						Silent	SNP	ENST00000402119.4	37	c.210G>T	CCDS12337.1																																																																																				0.517	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		8	128	1	0	0.000157383	0.000157383	0.00287919	8	128				
REG3G	130120	broad.mit.edu	37	2	79253898	79253898	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:79253898G>T	ENST00000272324.5	+	3	320	c.136G>T	c.(136-138)Gcc>Tcc	p.A46S	REG3G_ENST00000409471.1_Missense_Mutation_p.A46S|REG3G_ENST00000393897.2_Missense_Mutation_p.A46S	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	46					acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|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 region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGGCTCCAAGGCCTATGGCTC	0.512																																						ENST00000272324.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(136-138)Gcc>Tcc		regenerating islet-derived 3 gamma							88.0	85.0	86.0					2																	79253898		2203	4300	6503	SO:0001583	missense	130120				acute-phase response	extracellular region	sugar binding	g.chr2:79253898G>T	AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.136G>T	2.37:g.79253898G>T	ENSP00000272324:p.Ala46Ser					REG3G_ENST00000409471.1_Missense_Mutation_p.A46S|REG3G_ENST00000393897.2_Missense_Mutation_p.A46S	p.A46S	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN			3	320	+			46					A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Missense_Mutation	SNP	ENST00000272324.5	37	c.136G>T	CCDS1962.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.605878	0.66445	.	.	ENSG00000143954	ENST00000393897;ENST00000272324;ENST00000409471	T;T;T	0.16457	4.3;4.3;2.34	5.05	1.2	0.21068	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	0.116181	0.39083	N	0.001466	T	0.32852	0.0843	M	0.89414	3.03	0.09310	N	1	D;B	0.62365	0.991;0.002	P;B	0.58970	0.849;0.024	T	0.18398	-1.0338	10	0.24483	T	0.36	.	3.8989	0.09152	0.2668:0.0:0.5664:0.1667	.	46;46	Q3SYE6;Q6UW15	.;REG3G_HUMAN	S	46	ENSP00000377475:A46S;ENSP00000272324:A46S;ENSP00000387105:A46S	ENSP00000272324:A46S	A	+	1	0	REG3G	79107406	0.001000	0.12720	0.000000	0.03702	0.527000	0.34593	0.641000	0.24720	0.105000	0.17753	0.655000	0.94253	GCC		0.512	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1	NM_198448		12	58	1	0	1.49906e-05	0.000219431	0.00029138	12	58				
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs2684618	byFrequency	TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:43587576A>G	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		tctgaaaagaaaagaaaaaaa	0.428													A|||	308	0.0615016	0.0204	0.0548	5008	,	,		16882	0.0685		0.1113	False		,,,				2504	0.0634					ENST00000253803.2																			0																																																			0							g.chr17:43587576A>G	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587576A>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.428	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	48	0	0	0	0.000602214	0	4	48				
SVEP1	79987	broad.mit.edu	37	9	113166722	113166722	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:113166722G>A	ENST00000401783.2	-	39	9887	c.9551C>T	c.(9550-9552)cCg>cTg	p.P3184L	SVEP1_ENST00000374469.1_Missense_Mutation_p.P3161L|SVEP1_ENST00000297826.5_Missense_Mutation_p.P1110L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3184	Sushi 30. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.P3187Q(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TATGTTTTCCGGGAGAGGACA	0.433																																						ENST00000401783.2																			1	Substitution - Missense(1)	p.P3187Q(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(9550-9552)cCg>cTg		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							259.0	256.0	257.0					9																	113166722		1882	4105	5987	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113166722G>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.9551C>T	9.37:g.113166722G>A	ENSP00000384917:p.Pro3184Leu					SVEP1_ENST00000297826.5_Missense_Mutation_p.P1110L|SVEP1_ENST00000374469.1_Missense_Mutation_p.P3161L	p.P3184L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			39	9887	-			3184			Sushi 30.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.9551C>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.563213	0.45694	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	D;D;D	0.84223	-1.82;-1.82;-1.82	5.52	5.52	0.82312	Complement control module (2);Sushi/SCR/CCP (3);	0.111999	0.64402	D	0.000008	D	0.88074	0.6339	L	0.59912	1.85	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	D	0.83812	0.0242	10	0.05525	T	0.97	.	14.2911	0.66278	0.0:0.0:0.8514:0.1486	.	3184	Q4LDE5	SVEP1_HUMAN	L	3184;3161;1110	ENSP00000384917:P3184L;ENSP00000363593:P3161L;ENSP00000297826:P1110L	ENSP00000297826:P1110L	P	-	2	0	SVEP1	112206543	1.000000	0.71417	0.066000	0.19879	0.069000	0.16628	6.039000	0.70972	2.610000	0.88304	0.591000	0.81541	CCG		0.433	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				57	314	0	0	0	0.000781405	0	57	314				
FRG1B	284802	broad.mit.edu	37	20	29628246	29628246	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	be1a847c-f61a-48c1-b780-7af2c88f53be	g.chr20:29628246C>A	ENST00000278882.3	+	6	628	c.248C>A	c.(247-249)gCc>gAc	p.A83D	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83D|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88D			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GCTTTGTTGGCCTCAAATAGC	0.353																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)gCc>gAc																																						SO:0001583	missense	0							g.chr20:29628246C>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.248C>A	20.37:g.29628246C>A	ENSP00000278882:p.Ala83Asp					FRG1B_ENST00000358464.4_Missense_Mutation_p.A83D|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88D	p.A83D							6	628	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.248C>A		.	.	.	.	.	.	.	.	.	.	c	16.75	3.210388	0.58343	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50813	0.73	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.63129	0.2485	.	.	.	0.54753	D	0.999987	P;D	0.63880	0.839;0.993	P;D	0.70227	0.834;0.968	T	0.65611	-0.6126	9	0.52906	T	0.07	.	10.2211	0.43198	0.0:1.0:0.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	D	83;88;83	ENSP00000408863:A88D	ENSP00000278882:A83D	A	+	2	0	FRG1B	28241907	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	5.082000	0.64450	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	99	1	0	5.18039e-06	0.000157383	9.12119e-05	6	99				
RNF113B	140432	broad.mit.edu	37	13	98829414	98829414	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	be1a847c-f61a-48c1-b780-7af2c88f53be	g.chr13:98829414C>A	ENST00000267291.6	-	1	105	c.77G>T	c.(76-78)gGa>gTa	p.G26V	FARP1_ENST00000376586.2_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000319562.6_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	26							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			CCCTTTCCGTCCAGGCTTTTT	0.647																																						ENST00000267291.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(76-78)gGa>gTa		ring finger protein 113B							45.0	43.0	44.0					13																	98829414		2203	4300	6503	SO:0001583	missense	140432						nucleic acid binding|zinc ion binding	g.chr13:98829414C>A	AF539427	CCDS9486.1	13q32.2	2006-08-22	2005-03-22	2005-03-22	ENSG00000139797	ENSG00000139797		"""RING-type (C3HC4) zinc fingers"""	17267	protein-coding gene	gene with protein product			"""zinc finger protein 183-like 1"""	ZNF183L1			Standard	NM_178861		Approved	RNF161	uc001vnk.3	Q8IZP6	OTTHUMG00000017245	ENST00000267291.6:c.77G>T	13.37:g.98829414C>A	ENSP00000267291:p.Gly26Val					FARP1_ENST00000376586.2_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000595437.1_Intron	p.G26V	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.13)		1	105	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		26					Q8WWF9|Q96QY9	Missense_Mutation	SNP	ENST00000267291.6	37	c.77G>T	CCDS9486.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369146	0.42003	.	.	ENSG00000139797	ENST00000267291	T	0.31247	1.5	1.16	1.16	0.20824	.	0.372304	0.24779	U	0.035674	T	0.22282	0.0537	M	0.63428	1.95	0.43489	D	0.995723	P	0.35328	0.495	B	0.28139	0.086	T	0.03933	-1.0991	10	0.29301	T	0.29	.	5.6622	0.17674	0.0:1.0:0.0:0.0	.	26	Q8IZP6	R113B_HUMAN	V	26	ENSP00000267291:G26V	ENSP00000267291:G26V	G	-	2	0	RNF113B	97627415	0.059000	0.20769	0.959000	0.39883	0.816000	0.46133	0.012000	0.13287	0.936000	0.37367	0.484000	0.47621	GGA		0.647	RNF113B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045536.3	NM_178861		5	49	1	0	3.59834e-05	3.59834e-05	0.000591327	5	49				
CHD1L	9557	broad.mit.edu	37	1	146765330	146765330	+	Silent	SNP	T	T	C			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	be1a847c-f61a-48c1-b780-7af2c88f53be	g.chr1:146765330T>C	ENST00000369258.4	+	21	2450	c.2430T>C	c.(2428-2430)aaT>aaC	p.N810N	CHD1L_ENST00000369259.3_Silent_p.N606N|CHD1L_ENST00000431239.1_Silent_p.N716N|CHD1L_ENST00000361293.5_Silent_p.N529N|CHD1L_ENST00000467213.1_3'UTR	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	810	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					ATCGTTCCAATGTCCTGTCTG	0.463																																						ENST00000369258.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2428-2430)aaT>aaC		chromodomain helicase DNA binding protein 1-like							191.0	185.0	187.0					1																	146765330		2203	4300	6503	SO:0001819	synonymous_variant	9557				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr1:146765330T>C	AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.2430T>C	1.37:g.146765330T>C						CHD1L_ENST00000369259.3_Silent_p.N606N|CHD1L_ENST00000431239.1_Silent_p.N716N|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000361293.5_Silent_p.N529N	p.N810N	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN			21	2450	+	all_hematologic(923;0.0487)		810			Macro.		A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Silent	SNP	ENST00000369258.4	37	c.2430T>C	CCDS927.1																																																																																				0.463	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284		26	151	0	0	0	0.000339439	0	26	151				
CXCL9	4283	broad.mit.edu	37	4	76924788	76924788	+	Missense_Mutation	SNP	C	C	T	rs139830877		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	be1a847c-f61a-48c1-b780-7af2c88f53be	g.chr4:76924788C>T	ENST00000264888.5	-	4	379	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	RP11-630D6.5_ENST00000501239.2_RNA	NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9	114					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|defense response (GO:0006952)|defense response to virus (GO:0051607)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|regulation of cell proliferation (GO:0042127)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|cytokine activity (GO:0005125)	p.R114Q(1)		large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTGAGATTTTCGAACTTTCAG	0.338																																						ENST00000264888.5																			1	Substitution - Missense(1)	p.R114Q(1)	large_intestine(1)	large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11						c.(340-342)cGa>cAa		chemokine (C-X-C motif) ligand 9		C	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	182.0	172.0	175.0		341	1.5	0.0	4	dbSNP_134	175	0,8596		0,0,4298	no	missense	CXCL9	NM_002416.1	43	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	benign	114/126	76924788	1,12997	2201	4298	6499	SO:0001583	missense	4283				cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity	g.chr4:76924788C>T	X72755	CCDS34014.1	4q21	2013-02-25	2002-08-22	2002-08-23		ENSG00000138755		"""Endogenous ligands"""	7098	protein-coding gene	gene with protein product		601704	"""monokine induced by gamma interferon"""	CMK, MIG		8476424, 9730616	Standard	NM_002416		Approved	SCYB9, Humig, crg-10	uc003hjh.1	Q07325		ENST00000264888.5:c.341G>A	4.37:g.76924788C>T	ENSP00000354901:p.Arg114Gln					RP11-630D6.5_ENST00000501239.2_RNA	p.R114Q	NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		4	379	-			114					Q503B4	Missense_Mutation	SNP	ENST00000264888.5	37	c.341G>A	CCDS34014.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.648113	0.29336	2.27E-4	0.0	ENSG00000138755	ENST00000264888	T	0.46063	0.88	5.35	1.46	0.22682	.	14.147600	0.00166	N	0.000000	T	0.22166	0.0534	N	0.03608	-0.345	0.09310	N	1	B	0.16802	0.019	B	0.04013	0.001	T	0.15407	-1.0438	10	0.27082	T	0.32	0.4425	6.353	0.21387	0.0:0.3344:0.0:0.6656	.	114	Q07325	CXCL9_HUMAN	Q	114	ENSP00000354901:R114Q	ENSP00000354901:R114Q	R	-	2	0	CXCL9	77143812	0.021000	0.18746	0.014000	0.15608	0.006000	0.05464	0.148000	0.16224	0.209000	0.20645	-0.290000	0.09829	CGA		0.338	CXCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362819.1			7	88	0	0	0	0.000442599	0	7	88				
ZCCHC16	340595	broad.mit.edu	37	X	111698033	111698033	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	be1a847c-f61a-48c1-b780-7af2c88f53be	g.chrX:111698033G>A	ENST00000340433.2	+	1	307	c.77G>A	c.(76-78)cGg>cAg	p.R26Q		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	26							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTGATTCTGCGGCTTCAAATG	0.507																																						ENST00000340433.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(76-78)cGg>cAg		zinc finger, CCHC domain containing 16							104.0	83.0	90.0					X																	111698033		2203	4300	6503	SO:0001583	missense	340595						nucleic acid binding|zinc ion binding	g.chrX:111698033G>A	AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"""Zinc fingers, CCHC domain containing"""	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.77G>A	X.37:g.111698033G>A	ENSP00000340590:p.Arg26Gln						p.R26Q	NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN			1	307	+			26					B2RPG1	Missense_Mutation	SNP	ENST00000340433.2	37	c.77G>A	CCDS35369.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.272347	0.00257	.	.	ENSG00000187823	ENST00000340433	T	0.40476	1.03	4.19	0.132	0.14762	.	1.168870	0.06734	N	0.777208	T	0.15609	0.0376	N	0.04203	-0.255	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.24012	-1.0172	10	0.02654	T	1	0.0024	3.2923	0.06953	0.5601:0.2067:0.2332:0.0	.	26	Q6ZR62	ZCH16_HUMAN	Q	26	ENSP00000340590:R26Q	ENSP00000340590:R26Q	R	+	2	0	ZCCHC16	111584689	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.224000	0.09164	-0.036000	0.13669	-0.354000	0.07668	CGG		0.507	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356964.1	NM_001004308		14	44	0	0	0	0.000219431	0	14	44				
CDH6	1004	broad.mit.edu	37	5	31323130	31323130	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	be1a847c-f61a-48c1-b780-7af2c88f53be	g.chr5:31323130C>A	ENST00000265071.2	+	12	2353	c.2088C>A	c.(2086-2088)gcC>gcA	p.A696A		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	696					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGCCCGAAGCCCTTTTCCTAC	0.522																																						ENST00000265071.2																			0				NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(2086-2088)gcC>gcA		cadherin 6, type 2, K-cadherin (fetal kidney)							87.0	81.0	83.0					5																	31323130		2203	4300	6503	SO:0001819	synonymous_variant	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31323130C>A	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.2088C>A	5.37:g.31323130C>A							p.A696A	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN			12	2353	+			696					A8K5H5|Q9BWS0	Silent	SNP	ENST00000265071.2	37	c.2088C>A	CCDS3894.1																																																																																				0.522	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		9	60	1	0	3.07112e-06	0.000978159	5.60763e-05	9	60				
ZNF287	57336	broad.mit.edu	37	17	16467045	16467045	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	be1a847c-f61a-48c1-b780-7af2c88f53be	g.chr17:16467045G>A	ENST00000395824.1	-	4	1213	c.596C>T	c.(595-597)aCg>aTg	p.T199M	ZNF287_ENST00000395825.3_Missense_Mutation_p.T199M			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	192	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		GTTCTGTAACGTCACAGTCTT	0.458																																						ENST00000395824.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20						c.(595-597)aCg>aTg		zinc finger protein 287							218.0	149.0	172.0					17																	16467045		2203	4300	6503	SO:0001583	missense	57336				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:16467045G>A	AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.596C>T	17.37:g.16467045G>A	ENSP00000379168:p.Thr199Met					ZNF287_ENST00000395825.3_Missense_Mutation_p.T199M	p.T199M			Q9HBT7	ZN287_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.083)	4	1213	-			192			KRAB.		Q6IAG1	Missense_Mutation	SNP	ENST00000395824.1	37	c.596C>T	CCDS11179.2	.	.	.	.	.	.	.	.	.	.	G	4.224	0.040439	0.08148	.	.	ENSG00000141040	ENST00000395825;ENST00000395824	T;T	0.01076	5.37;5.37	4.05	4.05	0.47172	Krueppel-associated box (4);	0.000000	0.46758	D	0.000265	T	0.00845	0.0028	N	0.00252	-1.77	0.31570	N	0.656495	D	0.89917	1.0	D	0.87578	0.998	T	0.58651	-0.7599	10	0.02654	T	1	.	12.0322	0.53403	0.0:0.0:1.0:0.0	.	192	Q9HBT7	ZN287_HUMAN	M	199	ENSP00000379169:T199M;ENSP00000379168:T199M	ENSP00000379168:T199M	T	-	2	0	ZNF287	16407770	0.882000	0.30256	0.783000	0.31826	0.520000	0.34377	2.451000	0.44952	2.539000	0.85634	0.655000	0.94253	ACG		0.458	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1			23	58	0	0	0	0.000229342	0	23	58				
FLG2	388698	broad.mit.edu	37	1	152329418	152329418	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	be1a847c-f61a-48c1-b780-7af2c88f53be	g.chr1:152329418A>T	ENST00000388718.5	-	3	916	c.844T>A	c.(844-846)Tat>Aat	p.Y282N	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	282	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAATTGCTATAACCACATGCA	0.428																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(844-846)Tat>Aat		filaggrin family member 2							181.0	165.0	170.0					1																	152329418		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152329418A>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.844T>A	1.37:g.152329418A>T	ENSP00000373370:p.Tyr282Asn					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.Y282N	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	916	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		282			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.844T>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	A	6.762	0.509513	0.12883	.	.	ENSG00000143520	ENST00000388718	T	0.01133	5.29	5.9	1.81	0.25067	.	.	.	.	.	T	0.00300	0.0009	N	0.22421	0.69	0.09310	N	1	P	0.37101	0.582	B	0.28011	0.085	T	0.41142	-0.9525	9	0.27082	T	0.32	-0.3416	5.6986	0.17869	0.558:0.151:0.0:0.291	.	282	Q5D862	FILA2_HUMAN	N	282	ENSP00000373370:Y282N	ENSP00000373370:Y282N	Y	-	1	0	FLG2	150596042	0.001000	0.12720	0.001000	0.08648	0.117000	0.20001	1.002000	0.29796	1.036000	0.39998	0.528000	0.53228	TAT		0.428	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		33	157	0	0	0	0.000814825	0	33	157				
RGAG4	340526	broad.mit.edu	37	X	71349790	71349790	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	be1a847c-f61a-48c1-b780-7af2c88f53be	g.chrX:71349790C>T	ENST00000545866.1	-	1	1968	c.1601G>A	c.(1600-1602)cGc>cAc	p.R534H	RGAG4_ENST00000609883.1_Missense_Mutation_p.R534H|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	534										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					ACGACCTGTGCGGCGAATCAG	0.587																																						ENST00000545866.1																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24						c.(1600-1602)cGc>cAc		retrotransposon gag domain containing 4							47.0	49.0	48.0					X																	71349790		1954	4119	6073	SO:0001583	missense	340526							g.chrX:71349790C>T	AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.1601G>A	X.37:g.71349790C>T	ENSP00000441366:p.Arg534His					RGAG4_ENST00000479991.1_Missense_Mutation_p.R534H|NHSL2_ENST00000540800.1_Intron	p.R534H			Q5HYW3	RGAG4_HUMAN			1	1968	-	Renal(35;0.156)		534					A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	37	c.1601G>A	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	C	6.401	0.442073	0.12164	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.12465	2.68;2.68	4.11	1.32	0.21799	.	.	.	.	.	T	0.05686	0.0149	N	0.08118	0	0.09310	N	1	B	0.18310	0.027	B	0.08055	0.003	T	0.43988	-0.9357	8	.	.	.	-0.5526	5.3655	0.16111	0.0:0.5996:0.0:0.4004	.	534	Q5HYW3	RGAG4_HUMAN	H	534	ENSP00000441366:R534H;ENSP00000418667:R534H	.	R	-	2	0	RGAG4	71266515	0.209000	0.23505	0.010000	0.14722	0.017000	0.09413	0.307000	0.19296	0.141000	0.18875	0.513000	0.50165	CGC		0.587	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		5	16	0	0	0	3.59834e-05	0	5	16				
BRS3	680	broad.mit.edu	37	X	135572582	135572582	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	be1a847c-f61a-48c1-b780-7af2c88f53be	g.chrX:135572582G>A	ENST00000370648.3	+	2	953	c.725G>A	c.(724-726)aGg>aAg	p.R242K		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	242					adult feeding behavior (GO:0008343)|glucose metabolic process (GO:0006006)|regulation of blood pressure (GO:0008217)	integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TTGATTGCTAGGACCCTTTAC	0.388																																						ENST00000370648.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23						c.(724-726)aGg>aAg		bombesin-like receptor 3							79.0	74.0	76.0					X																	135572582		2203	4299	6502	SO:0001583	missense	680				adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity	g.chrX:135572582G>A		CCDS14656.1	Xq26.3	2014-02-21			ENSG00000102239	ENSG00000102239		"""GPCR / Class A : Bombesin receptors"""	1113	protein-coding gene	gene with protein product		300107				8383682	Standard	NM_001727		Approved	BB3	uc004ezv.1	P32247	OTTHUMG00000022726	ENST00000370648.3:c.725G>A	X.37:g.135572582G>A	ENSP00000359682:p.Arg242Lys						p.R242K	NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN			2	953	+	Acute lymphoblastic leukemia(192;0.000127)		242						Missense_Mutation	SNP	ENST00000370648.3	37	c.725G>A	CCDS14656.1	.	.	.	.	.	.	.	.	.	.	G	6.919	0.539156	0.13250	.	.	ENSG00000102239	ENST00000370648	T	0.38401	1.14	5.45	1.69	0.24217	GPCR, rhodopsin-like superfamily (1);	0.279698	0.35970	N	0.002867	T	0.21186	0.0510	N	0.25094	0.71	0.32089	N	0.592179	B	0.09022	0.002	B	0.15052	0.012	T	0.17961	-1.0352	10	0.24483	T	0.36	-2.1984	8.7869	0.34825	0.3786:0.0:0.6214:0.0	.	242	P32247	BRS3_HUMAN	K	242	ENSP00000359682:R242K	ENSP00000359682:R242K	R	+	2	0	BRS3	135400248	0.011000	0.17503	0.898000	0.35279	0.987000	0.75469	-0.004000	0.12878	0.142000	0.18901	-0.192000	0.12808	AGG		0.388	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059005.1	NM_001727		13	20	0	0	0	0.000219431	0	13	20				
DHX33	56919	broad.mit.edu	37	17	5366889	5366889	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	be1a847c-f61a-48c1-b780-7af2c88f53be	g.chr17:5366889G>C	ENST00000225296.3	-	2	610	c.410C>G	c.(409-411)aCt>aGt	p.T137S	DHX33_ENST00000433302.3_Intron	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	137	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				positive regulation of transcription from RNA polymerase I promoter (GO:0045943)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|rDNA binding (GO:0000182)			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGAGACTCTAGTAGCAAGAGA	0.512																																						ENST00000225296.3																			0				breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(409-411)aCt>aGt		DEAH (Asp-Glu-Ala-His) box polypeptide 33							121.0	116.0	118.0					17																	5366889		2203	4300	6503	SO:0001583	missense	56919					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:5366889G>C	AL359945	CCDS11072.1	17p13	2003-06-13	2003-06-13	2003-06-13	ENSG00000005100	ENSG00000005100		"""DEAH-boxes"""	16718	protein-coding gene	gene with protein product		614405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33"""	DDX33			Standard	NM_020162		Approved	FLJ21972, DKFZp762F2011	uc002gca.3	Q9H6R0	OTTHUMG00000102041	ENST00000225296.3:c.410C>G	17.37:g.5366889G>C	ENSP00000225296:p.Thr137Ser					DHX33_ENST00000433302.3_Intron	p.T137S	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN			2	610	-			137			Helicase ATP-binding.		B4DHF9|Q4G149|Q5CZ73|Q9H5M9	Missense_Mutation	SNP	ENST00000225296.3	37	c.410C>G	CCDS11072.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354833	0.41700	.	.	ENSG00000005100	ENST00000225296	T	0.07688	3.17	5.04	5.04	0.67666	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.157579	0.56097	D	0.000028	T	0.08626	0.0214	L	0.27053	0.805	0.80722	D	1	B	0.17038	0.02	B	0.15870	0.014	T	0.15694	-1.0428	10	0.62326	D	0.03	.	17.3684	0.87369	0.0:0.0:1.0:0.0	.	137	Q9H6R0	DHX33_HUMAN	S	137	ENSP00000225296:T137S	ENSP00000225296:T137S	T	-	2	0	DHX33	5307613	0.837000	0.29446	0.980000	0.43619	0.997000	0.91878	3.885000	0.56182	2.340000	0.79590	0.563000	0.77884	ACT		0.512	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219826.2	NM_020162		3	157	0	0	0	0.00024832	0	3	157				
PCDHB10	56126	broad.mit.edu	37	5	140572969	140572969	+	Missense_Mutation	SNP	T	T	G	rs143726447	byFrequency	TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	be1a847c-f61a-48c1-b780-7af2c88f53be	g.chr5:140572969T>G	ENST00000239446.4	+	1	1028	c.844T>G	c.(844-846)Ttt>Gtt	p.F282V		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	282	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTATTCATTTTTTGATGCCTC	0.393																																						ENST00000239446.4																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(844-846)Ttt>Gtt									77.0	82.0	80.0					5																	140572969		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140572969T>G	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.844T>G	5.37:g.140572969T>G	ENSP00000239446:p.Phe282Val						p.F282V	NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1028	+			282			Cadherin 3.		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.844T>G	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	T	9.101	1.004256	0.19199	.	.	ENSG00000120324	ENST00000239446	T	0.01647	4.71	3.41	3.41	0.39046	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01870	0.0059	N	0.13272	0.32	0.19775	N	0.99996	P	0.41848	0.763	P	0.49421	0.61	T	0.50516	-0.8819	9	0.35671	T	0.21	.	2.2733	0.04096	0.2348:0.1708:0.0:0.5944	.	282	Q9UN67	PCDBA_HUMAN	V	282	ENSP00000239446:F282V	ENSP00000239446:F282V	F	+	1	0	PCDHB10	140553153	0.045000	0.20229	1.000000	0.80357	0.344000	0.29017	1.263000	0.33004	1.572000	0.49736	0.454000	0.30748	TTT		0.393	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		12	58	0	0	0	0.000151284	0	12	58				
UTP14C	9724	broad.mit.edu	37	13	52603217	52603217	+	Missense_Mutation	SNP	G	G	A	rs545278962	byFrequency	TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	be1a847c-f61a-48c1-b780-7af2c88f53be	g.chr13:52603217G>A	ENST00000521776.2	+	2	1010	c.277G>A	c.(277-279)Gtt>Att	p.V93I	ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	93					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		GCTTGAGCCCGTTAAAACTTC	0.423													g|||	10	0.00199681	0.0	0.0	5008	,	,		19880	0.0		0.0	False		,,,				2504	0.0102					ENST00000521776.2																			0				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(277-279)Gtt>Att		UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)							127.0	133.0	131.0					13																	52603217		2203	4300	6503	SO:0001583	missense	9724				cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome		g.chr13:52603217G>A	D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"""KIAA0266"""	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.277G>A	13.37:g.52603217G>A	ENSP00000428619:p.Val93Ile					ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR	p.V93I	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN		GBM - Glioblastoma multiforme(99;2.3e-08)	2	1010	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	93					Q5FWG3|Q92555	Missense_Mutation	SNP	ENST00000521776.2	37	c.277G>A	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	g	0.006	-2.068885	0.00382	.	.	ENSG00000253797	ENST00000521776	T	0.14516	2.5	2.74	-1.68	0.08212	.	0.605939	0.17786	N	0.162060	T	0.04048	0.0113	N	0.04655	-0.195	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.42447	-0.9451	10	0.05620	T	0.96	3.7176	7.3214	0.26529	0.7313:0.0:0.2687:0.0	.	93	Q5TAP6	UT14C_HUMAN	I	93	ENSP00000428619:V93I	ENSP00000428619:V93I	V	+	1	0	UTP14C	51501218	0.104000	0.21937	0.012000	0.15200	0.328000	0.28507	0.307000	0.19296	-0.427000	0.07350	-0.379000	0.06801	GTT		0.423	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645		21	117	0	0	0	0.000175454	0	21	117				
SHOX	6473	broad.mit.edu	37	X	591826	591826	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	be1a847c-f61a-48c1-b780-7af2c88f53be	g.chrX:591826A>T	ENST00000554971.1	+	1	285	c.194A>T	c.(193-195)cAc>cTc	p.H65L	SHOX_ENST00000381575.1_Missense_Mutation_p.H65L|SHOX_ENST00000334060.3_Missense_Mutation_p.H65L|SHOX_ENST00000381578.1_Missense_Mutation_p.H65L			O15266	SHOX_HUMAN	short stature homeobox	65					skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCGGCGGCCACTGCCCGGTG	0.587																																					Ovarian(95;18 1419 12424 14056 28266)	ENST00000381578.1																			0				endometrium(3)|lung(9)|prostate(1)	13						c.(193-195)cAc>cTc		short stature homeobox							76.0	92.0	86.0					X																	591826		2203	4296	6499	SO:0001583	missense	6473				skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:591826A>T	U82668	CCDS14106.1, CCDS14107.1	Xp22.33 and Yp11.32	2014-07-16			ENSG00000185960	ENSG00000185960		"""Pseudoautosomal regions / PAR1"", ""Homeoboxes / PRD class"""	10853	protein-coding gene	gene with protein product		312865, 400020				9259282, 9140395	Standard	XR_247282		Approved	PHOG, GCFX, SS, SHOXY	uc004cph.1	O15266	OTTHUMG00000021053	ENST00000554971.1:c.194A>T	X.37:g.591826A>T	ENSP00000452016:p.His65Leu					SHOX_ENST00000554971.1_Missense_Mutation_p.H65L|SHOX_ENST00000334060.3_Missense_Mutation_p.H65L|SHOX_ENST00000381575.1_Missense_Mutation_p.H65L	p.H65L	NM_000451.3	NP_000442.1	O15266	SHOX_HUMAN			2	885	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	65					O00412|O00413|O15267	Missense_Mutation	SNP	ENST00000554971.1	37	c.194A>T	CCDS14107.1	.	.	.	.	.	.	.	.	.	.	A	0.141	-1.102484	0.01828	.	.	ENSG00000185960	ENST00000334060;ENST00000381578;ENST00000554971;ENST00000381575	D;D;D;D	0.94092	-3.35;-3.22;-3.22;-3.35	2.26	0.809	0.18725	.	0.532229	0.16071	N	0.231003	D	0.87398	0.6167	L	0.54323	1.7	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.70920	-0.4741	10	0.16420	T	0.52	.	3.9423	0.09333	0.6574:0.2124:0.1302:0.0	.	65;65	O15266-2;O15266	.;SHOX_HUMAN	L	65	ENSP00000335505:H65L;ENSP00000370990:H65L;ENSP00000452016:H65L;ENSP00000370987:H65L	ENSP00000335505:H65L	H	+	2	0	SHOX	511826	1.000000	0.71417	0.966000	0.40874	0.399000	0.30720	4.031000	0.57267	0.631000	0.30412	0.227000	0.17789	CAC		0.587	SHOX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411999.3	NM_000451		22	141	0	0	0	0.000295444	0	22	141				
GRIN2A	2903	broad.mit.edu	37	16	10032075	10032075	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	be1a847c-f61a-48c1-b780-7af2c88f53be	g.chr16:10032075C>T	ENST00000396573.2	-	4	1057	c.748G>A	c.(748-750)Ggg>Agg	p.G250R	GRIN2A_ENST00000330684.3_Missense_Mutation_p.G250R|GRIN2A_ENST00000396575.2_Missense_Mutation_p.G250R|GRIN2A_ENST00000562109.1_Missense_Mutation_p.G250R|GRIN2A_ENST00000535259.1_Missense_Mutation_p.G93R|GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000404927.2_Missense_Mutation_p.G250R	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	250					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AAATCATACCCGGTGAGGCCA	0.512																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(748-750)Ggg>Agg		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						66.0	61.0	63.0					16																	10032075		2197	4300	6497	SO:0001583	missense	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:10032075C>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.748G>A	16.37:g.10032075C>T	ENSP00000379818:p.Gly250Arg					GRIN2A_ENST00000396575.2_Missense_Mutation_p.G250R|GRIN2A_ENST00000562109.1_Missense_Mutation_p.G250R|GRIN2A_ENST00000330684.3_Missense_Mutation_p.G250R|GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000404927.2_Missense_Mutation_p.G250R|GRIN2A_ENST00000535259.1_Missense_Mutation_p.G93R	p.G250R	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			4	1057	-			250					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.748G>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	c	29.7	5.028958	0.93518	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	D;D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52;-2.52	5.2	5.2	0.72013	Extracellular ligand-binding receptor (1);	0.050671	0.85682	D	0.000000	D	0.95204	0.8445	M	0.87758	2.905	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.933;0.978;1.0	D	0.95374	0.8467	9	.	.	.	.	18.0961	0.89490	0.0:1.0:0.0:0.0	.	93;250;250	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	R	250;250;93;250;250	ENSP00000379818:G250R;ENSP00000385872:G250R;ENSP00000441572:G93R;ENSP00000332549:G250R;ENSP00000379820:G250R	.	G	-	1	0	GRIN2A	9939576	1.000000	0.71417	0.915000	0.36163	0.985000	0.73830	7.665000	0.83852	2.582000	0.87167	0.561000	0.74099	GGG		0.512	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			9	71	0	0	0	0.000673444	0	9	71				
TUBB8P7	197331	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	byFrequency	TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	be1a847c-f61a-48c1-b780-7af2c88f53be	g.chr16:90161902A>G	ENST00000564451.1	+	0	1255				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537													.|||	3135	0.625998	0.9327	0.5014	5008	,	,		11498	0.7867		0.4702	False		,,,				2504	0.2945					ENST00000567960.1																			8	Substitution - Missense(8)	p.K213R(8)	kidney(4)|prostate(3)|urinary_tract(1)																																																0							g.chr16:90161902A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161902A>G						TUBB8P7_ENST00000564451.1_RNA								0	638	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	45	0	0	0	0.000602214	0	3	45				
PCDHA1	56147	broad.mit.edu	37	5	140166008	140166008	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	be1a847c-f61a-48c1-b780-7af2c88f53be	g.chr5:140166008G>A	ENST00000504120.2	+	1	133	c.133G>A	c.(133-135)Gtt>Att	p.V45I	PCDHA1_ENST00000394633.3_Missense_Mutation_p.V45I|PCDHA1_ENST00000378133.3_Missense_Mutation_p.V45I	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	45	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCACCTTCGTTGGCCGCGT	0.637																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(133-135)Gtt>Att									49.0	55.0	53.0					5																	140166008		2203	4300	6503	SO:0001583	missense	0							g.chr5:140166008G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.133G>A	5.37:g.140166008G>A	ENSP00000420840:p.Val45Ile					PCDHA1_ENST00000378133.3_Missense_Mutation_p.V45I|PCDHA1_ENST00000394633.3_Missense_Mutation_p.V45I	p.V45I	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	133	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.133G>A	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	18.86	3.712806	0.68730	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.49139	0.79;0.79;0.79	4.53	4.53	0.55603	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	0.000000	0.38720	U	0.001583	T	0.67411	0.2890	M	0.66439	2.03	0.33835	D	0.63072	D;D;D	0.63880	0.967;0.993;0.98	D;D;P	0.75020	0.96;0.985;0.835	T	0.78473	-0.2190	10	0.87932	D	0	.	17.6095	0.88048	0.0:0.0:1.0:0.0	.	45;45;45	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	I	45	ENSP00000420840:V45I;ENSP00000378129:V45I;ENSP00000367373:V45I	ENSP00000367373:V45I	V	+	1	0	PCDHA1	140146192	1.000000	0.71417	1.000000	0.80357	0.485000	0.33311	5.555000	0.67301	2.246000	0.74042	0.650000	0.86243	GTT		0.637	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		20	64	0	0	0	0.000295444	0	20	64				
FOXA1	3169	broad.mit.edu	37	14	38061705	38061705	+	Missense_Mutation	SNP	C	C	G	rs201419897		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	be1a847c-f61a-48c1-b780-7af2c88f53be	g.chr14:38061705C>G	ENST00000250448.2	-	2	345	c.284G>C	c.(283-285)aGc>aCc	p.S95T	FOXA1_ENST00000540786.1_Missense_Mutation_p.S62T|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	95					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CGCAGTCATGCTGTTCATGGC	0.721																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(283-285)aGc>aCc		forkhead box A1																																				SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061705C>G	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.284G>C	14.37:g.38061705C>G	ENSP00000250448:p.Ser95Thr					FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.S62T	p.S95T	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	345	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		95					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.284G>C	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805163	0.50315	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	T;T	0.18338	2.22;2.22	3.88	2.01	0.26516	Fork-head N-terminal (1);	0.441308	0.24920	N	0.034551	T	0.11110	0.0271	L	0.34521	1.04	0.32338	N	0.560216	B	0.02656	0.0	B	0.06405	0.002	T	0.26430	-1.0103	10	0.15499	T	0.54	.	9.3552	0.38161	0.151:0.5561:0.2929:0.0	.	95	P55317	FOXA1_HUMAN	T	95;62	ENSP00000250448:S95T;ENSP00000440178:S62T	ENSP00000250448:S95T	S	-	2	0	FOXA1	37131456	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	4.540000	0.60664	0.298000	0.22638	0.511000	0.50034	AGC		0.721	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			12	35	0	0	0	0.00010058	0	12	35				
FRRS1L	23732	broad.mit.edu	37	9	111909389	111909389	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	be1a847c-f61a-48c1-b780-7af2c88f53be	g.chr9:111909389T>C	ENST00000561981.2	-	3	556	c.557A>G	c.(556-558)gAg>gGg	p.E186G		NM_014334.2	NP_055149.2	Q9P0K9	FRS1L_HUMAN	ferric-chelate reductase 1-like	186	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)											TGCACTCAGCTCAAATTCTAC	0.418																																						ENST00000374581.3																			0											c.(556-558)gAg>gGg		ferric-chelate reductase 1-like							185.0	168.0	174.0					9																	111909389		2203	4300	6503	SO:0001583	missense	23732					integral to membrane		g.chr9:111909389T>C	AF155065	CCDS35098.1	9q31.3	2014-07-16	2012-03-06	2012-03-06	ENSG00000260230	ENSG00000260230			1362	protein-coding gene	gene with protein product		604574	"""chromosome 9 open reading frame 4"""	C9orf4		10603000	Standard	NM_014334		Approved	CG-6	uc004bdw.1	Q9P0K9	OTTHUMG00000020468	ENST00000561981.2:c.557A>G	9.37:g.111909389T>C	ENSP00000477141:p.Glu186Gly						p.E186G	NM_014334.2	NP_055149.2	Q9P0K9	CI004_HUMAN			3	556	-			186			DOMON.		Q5T4G4	Missense_Mutation	SNP	ENST00000561981.2	37	c.557A>G	CCDS35098.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.931630	0.92389	.	.	ENSG00000136805	ENST00000374581	T	0.79845	-1.31	5.67	5.67	0.87782	DOMON domain (3);	0.000000	0.85682	D	0.000000	D	0.88672	0.6500	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89685	0.3893	10	0.72032	D	0.01	-8.6354	15.9192	0.79547	0.0:0.0:0.0:1.0	.	186	Q9P0K9	CI004_HUMAN	G	186	ENSP00000363709:E186G	ENSP00000363709:E186G	E	-	2	0	C9orf4	110949210	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.608000	0.82898	2.179000	0.69175	0.528000	0.53228	GAG		0.418	FRRS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053586.2	NM_014334		3	112	0	0	0	6.4e-05	0	3	112				
BAI3	577	broad.mit.edu	37	6	70071267	70071267	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	be1a847c-f61a-48c1-b780-7af2c88f53be	g.chr6:70071267G>A	ENST00000370598.1	+	29	4923	c.4102G>A	c.(4102-4104)Gca>Aca	p.A1368T	BAI3_ENST00000238918.8_Missense_Mutation_p.A574T|BAI3_ENST00000546190.1_Missense_Mutation_p.A332T	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1368					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCAACATCTCGCACCCCAGGA	0.438																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(4102-4104)Gca>Aca		brain-specific angiogenesis inhibitor 3							121.0	124.0	123.0					6																	70071267		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70071267G>A	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.4102G>A	6.37:g.70071267G>A	ENSP00000359630:p.Ala1368Thr					BAI3_ENST00000238918.8_Missense_Mutation_p.A574T|BAI3_ENST00000546190.1_Missense_Mutation_p.A332T	p.A1368T	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			29	4923	+		all_lung(197;0.212)	1368					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.4102G>A	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.879261	0.33162	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.05580	3.42;3.42;3.42	5.8	3.75	0.43078	.	0.290167	0.39020	N	0.001493	T	0.00845	0.0028	N	0.03608	-0.345	0.28624	N	0.908016	B;B	0.21688	0.002;0.059	B;B	0.13407	0.001;0.009	T	0.48670	-0.9015	10	0.21014	T	0.42	.	9.0922	0.36619	0.0973:0.3308:0.5719:0.0	.	574;1368	B7Z356;O60242	.;BAI3_HUMAN	T	1368;574;332	ENSP00000359630:A1368T;ENSP00000238918:A574T;ENSP00000441821:A332T	ENSP00000238918:A574T	A	+	1	0	BAI3	70127988	0.998000	0.40836	0.737000	0.30932	0.802000	0.45316	2.851000	0.48302	0.599000	0.29845	0.650000	0.86243	GCA		0.438	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			29	155	0	0	0	0.000409698	0	29	155				
FBXL17	64839	broad.mit.edu	37	5	107216868	107216868	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	be1a847c-f61a-48c1-b780-7af2c88f53be	g.chr5:107216868A>G	ENST00000542267.1	-	8	2241	c.1835T>C	c.(1834-1836)aTt>aCt	p.I612T	FBXL17_ENST00000359660.5_Missense_Mutation_p.I214T|FBXL17_ENST00000496714.1_Missense_Mutation_p.I214T	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	612										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		GTATCGCCCAATGGCTATCAG	0.453																																						ENST00000542267.1																			0				endometrium(1)|large_intestine(4)|lung(1)	6						c.(1834-1836)aTt>aCt		F-box and leucine-rich repeat protein 17							140.0	129.0	132.0					5																	107216868		2202	4300	6502	SO:0001583	missense	64839							g.chr5:107216868A>G	AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743		"""F-boxes / Leucine-rich repeats"""	13615	protein-coding gene	gene with protein product		609083	"""F-box only protein 13"""	FBXO13			Standard	NM_001163315		Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000542267.1:c.1835T>C	5.37:g.107216868A>G	ENSP00000437464:p.Ile612Thr					FBXL17_ENST00000496714.1_Missense_Mutation_p.I214T|FBXL17_ENST00000359660.5_Missense_Mutation_p.I214T	p.I612T	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)	8	2241	-		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)	612					A1A4E3	Missense_Mutation	SNP	ENST00000542267.1	37	c.1835T>C	CCDS54886.1	.	.	.	.	.	.	.	.	.	.	A	19.86	3.905940	0.72868	.	.	ENSG00000145743	ENST00000359660;ENST00000542267;ENST00000496714	T;T;T	0.02787	4.16;4.16;4.16	6.17	4.99	0.66335	.	0.076690	0.56097	D	0.000033	T	0.13114	0.0318	M	0.84156	2.68	0.45161	D	0.998176	D;D	0.57257	0.979;0.975	P;P	0.57960	0.681;0.83	T	0.00268	-1.1862	10	0.87932	D	0	.	12.7809	0.57476	0.8771:0.0:0.0:0.1228	.	612;214	Q9UF56;Q9UF56-2	FXL17_HUMAN;.	T	214;612;214	ENSP00000352683:I214T;ENSP00000437464:I612T;ENSP00000418111:I214T	ENSP00000352683:I214T	I	-	2	0	FBXL17	107244767	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.927000	0.92846	1.105000	0.41606	0.533000	0.62120	ATT		0.453	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				24	103	0	0	0	0.000878237	0	24	103				
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	be1a847c-f61a-48c1-b780-7af2c88f53be	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	80								p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363																																						ENST00000278882.3																			8	Substitution - Missense(8)	p.A80P(8)	prostate(4)|kidney(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(238-240)Gct>Cct																																						SO:0001583	missense	0							g.chr20:29628236G>C			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.238G>C	20.37:g.29628236G>C	ENSP00000278882:p.Ala80Pro					FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P	p.A80P							6	618	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.238G>C		.	.	.	.	.	.	.	.	.	.	g	15.73	2.920277	0.52653	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.57595	0.39	2.08	2.08	0.27032	Actin cross-linking (1);	0.052409	0.85682	D	0.000000	T	0.68952	0.3057	.	.	.	0.80722	D	1	D;D	0.64830	0.994;0.988	D;D	0.85130	0.997;0.993	T	0.72766	-0.4194	9	0.87932	D	0	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	85;80	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	P	80;85;80	ENSP00000408863:A85P	ENSP00000278882:A80P	A	+	1	0	FRG1B	28241897	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	101	0	0	0	3.59834e-05	0	3	101				
PRC1	9055	broad.mit.edu	37	15	91524744	91524744	+	Silent	SNP	T	T	C			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	be1a847c-f61a-48c1-b780-7af2c88f53be	g.chr15:91524744T>C	ENST00000361188.5	-	5	1868	c.657A>G	c.(655-657)caA>caG	p.Q219Q	PRC1_ENST00000394249.3_Silent_p.Q219Q|PRC1_ENST00000442656.2_Silent_p.Q178Q|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000556129.1_5'Flank|PRC1_ENST00000361919.3_Silent_p.Q219Q					protein regulator of cytokinesis 1											endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					GTAGCAACTTTTGTAGTGTTG	0.408																																						ENST00000361188.5																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25						c.(655-657)caA>caG		protein regulator of cytokinesis 1							131.0	118.0	123.0					15																	91524744		2198	4298	6496	SO:0001819	synonymous_variant	9055				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding	g.chr15:91524744T>C	AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"""anaphase spindle elongation 1 homolog (S. cerevisiae)"""	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.657A>G	15.37:g.91524744T>C						PRC1_ENST00000361919.3_Silent_p.Q219Q|PRC1_ENST00000394249.3_Silent_p.Q219Q|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000442656.2_Silent_p.Q178Q	p.Q219Q			O43663	PRC1_HUMAN			5	1868	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		219			Dimerization.			Silent	SNP	ENST00000361188.5	37	c.657A>G	CCDS45352.1																																																																																				0.408	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981		4	57	0	0	0	3.59834e-05	0	4	57				
TMPRSS2	7113	broad.mit.edu	37	21	42839793	42839793	+	Silent	SNP	C	C	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	be1a847c-f61a-48c1-b780-7af2c88f53be	g.chr21:42839793C>T	ENST00000332149.5	-	13	1469	c.1335G>A	c.(1333-1335)ctG>ctA	p.L445L	TMPRSS2_ENST00000398585.3_Silent_p.L482L|TMPRSS2_ENST00000458356.1_Silent_p.L445L	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	445	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				TCGAAGTGACCAGAGGCCCTC	0.532			T	"""ERG, ETV1, ETV4, ETV5"""	prostate																																	ENST00000398585.3				Dom	yes		21	21q22.3	7113	T	"""transmembrane protease, serine 2"""			E	"""ERG, ETV1, ETV4, ETV5"""		prostate	TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	0				central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(1444-1446)ctG>ctA		transmembrane protease, serine 2							136.0	124.0	128.0					21																	42839793		2203	4300	6503	SO:0001819	synonymous_variant	0				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:42839793C>T	U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"""Serine peptidases / Transmembrane"""	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.1335G>A	21.37:g.42839793C>T						TMPRSS2_ENST00000458356.1_Silent_p.L445L|TMPRSS2_ENST00000332149.5_Silent_p.L445L	p.L482L	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN			13	1506	-		Prostate(19;4.48e-07)|all_epithelial(19;0.031)	445			Peptidase S1.		A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	Silent	SNP	ENST00000332149.5	37	c.1446G>A	CCDS33564.1																																																																																				0.532	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1			8	78	0	0	0	0.000157383	0	8	78				
MIEF1	54471	broad.mit.edu	37	22	39910032	39910032	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	be1a847c-f61a-48c1-b780-7af2c88f53be	g.chr22:39910032A>T	ENST00000325301.2	+	6	1520	c.1096A>T	c.(1096-1098)Atc>Ttc	p.I366F	MIEF1_ENST00000402881.1_Missense_Mutation_p.I366F|MIEF1_ENST00000404569.1_Missense_Mutation_p.I366F	NM_019008.4	NP_061881.2	Q9NQG6	MID51_HUMAN	mitochondrial elongation factor 1	366					mitochondrial fission (GO:0000266)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|GDP binding (GO:0019003)|identical protein binding (GO:0042802)										GTGCCTCAAGATCCTCAAGGC	0.642											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000325301.2																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)	16						c.(1096-1098)Atc>Ttc									65.0	57.0	60.0					22																	39910032		2203	4300	6503	SO:0001583	missense	0					integral to membrane|mitochondrion		g.chr22:39910032A>T	AL365515	CCDS13995.1	22q13.1	2013-09-23	2013-09-23	2013-09-23	ENSG00000100335	ENSG00000100335			25979	protein-coding gene	gene with protein product		615497	"""Smith-Magenis syndrome chromosome region, candidate 7-like"""	SMCR7L		21508961, 21701560	Standard	NM_019008		Approved	FLJ20232, MiD51	uc003axx.3	Q9NQG6	OTTHUMG00000151105	ENST00000325301.2:c.1096A>T	22.37:g.39910032A>T	ENSP00000327124:p.Ile366Phe		OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	889	SMCR7L_ENST00000402881.1_Missense_Mutation_p.I366F|SMCR7L_ENST00000404569.1_Missense_Mutation_p.I366F	p.I366F	NM_019008.4	NP_061881.2	Q9NQG6	SMC7L_HUMAN			6	1520	+	Melanoma(58;0.04)		366					Q7L890|Q9BUI3	Missense_Mutation	SNP	ENST00000325301.2	37	c.1096A>T	CCDS13995.1	.	.	.	.	.	.	.	.	.	.	A	16.38	3.108205	0.56291	.	.	ENSG00000100335	ENST00000402881;ENST00000325301;ENST00000404569	T;T;T	0.10477	2.87;2.87;2.87	6.07	5.03	0.67393	.	0.149661	0.64402	D	0.000009	T	0.18964	0.0455	M	0.63843	1.955	0.58432	D	0.999996	B;P	0.43542	0.395;0.81	B;P	0.47528	0.261;0.549	T	0.00363	-1.1788	10	0.56958	D	0.05	-22.229	12.4059	0.55439	0.9338:0.0:0.0662:0.0	.	366;366	Q9NQG6;B0QY95	MID51_HUMAN;.	F	366	ENSP00000385110:I366F;ENSP00000327124:I366F;ENSP00000385191:I366F	ENSP00000327124:I366F	I	+	1	0	SMCR7L	38239978	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.903000	0.48711	2.326000	0.78906	0.533000	0.62120	ATC		0.642	MIEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321325.1	NM_019008		14	74	0	0	0	0.000566183	0	14	74				
SPRR2G	6706	broad.mit.edu	37	1	153122527	153122527	+	Silent	SNP	C	C	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	be1a847c-f61a-48c1-b780-7af2c88f53be	g.chr1:153122527C>T	ENST00000368748.4	-	2	98	c.60G>A	c.(58-60)acG>acA	p.T20T		NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	small proline-rich protein 2G	20					epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCACTTTGGCGTGGGGCACA	0.577																																						ENST00000368748.4																			0				endometrium(1)|lung(1)|skin(1)	3						c.(58-60)acG>acA		small proline-rich protein 2G							128.0	101.0	111.0					1																	153122527		2203	4298	6501	SO:0001819	synonymous_variant	0				keratinization	cornified envelope|cytoplasm		g.chr1:153122527C>T	AF333957	CCDS30868.1	1q21-q22	2008-02-05			ENSG00000159516	ENSG00000159516			11267	protein-coding gene	gene with protein product						8325635, 11279051	Standard	NM_001014291		Approved		uc009wod.2	Q9BYE4	OTTHUMG00000014399	ENST00000368748.4:c.60G>A	1.37:g.153122527C>T							p.T20T	NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	98	-	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		20						Silent	SNP	ENST00000368748.4	37	c.60G>A	CCDS30868.1																																																																																				0.577	SPRR2G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040057.1			13	122	0	0	0	0.000151284	0	13	122				
REG3G	130120	broad.mit.edu	37	2	79253898	79253898	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	be1a847c-f61a-48c1-b780-7af2c88f53be	g.chr2:79253898G>T	ENST00000272324.5	+	3	320	c.136G>T	c.(136-138)Gcc>Tcc	p.A46S	REG3G_ENST00000409471.1_Missense_Mutation_p.A46S|REG3G_ENST00000393897.2_Missense_Mutation_p.A46S	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	46					acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|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 region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGGCTCCAAGGCCTATGGCTC	0.512																																						ENST00000272324.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(136-138)Gcc>Tcc		regenerating islet-derived 3 gamma							88.0	85.0	86.0					2																	79253898		2203	4300	6503	SO:0001583	missense	130120				acute-phase response	extracellular region	sugar binding	g.chr2:79253898G>T	AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.136G>T	2.37:g.79253898G>T	ENSP00000272324:p.Ala46Ser					REG3G_ENST00000393897.2_Missense_Mutation_p.A46S|REG3G_ENST00000409471.1_Missense_Mutation_p.A46S	p.A46S	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN			3	320	+			46					A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Missense_Mutation	SNP	ENST00000272324.5	37	c.136G>T	CCDS1962.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.605878	0.66445	.	.	ENSG00000143954	ENST00000393897;ENST00000272324;ENST00000409471	T;T;T	0.16457	4.3;4.3;2.34	5.05	1.2	0.21068	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	0.116181	0.39083	N	0.001466	T	0.32852	0.0843	M	0.89414	3.03	0.09310	N	1	D;B	0.62365	0.991;0.002	P;B	0.58970	0.849;0.024	T	0.18398	-1.0338	10	0.24483	T	0.36	.	3.8989	0.09152	0.2668:0.0:0.5664:0.1667	.	46;46	Q3SYE6;Q6UW15	.;REG3G_HUMAN	S	46	ENSP00000377475:A46S;ENSP00000272324:A46S;ENSP00000387105:A46S	ENSP00000272324:A46S	A	+	1	0	REG3G	79107406	0.001000	0.12720	0.000000	0.03702	0.527000	0.34593	0.641000	0.24720	0.105000	0.17753	0.655000	0.94253	GCC		0.512	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1	NM_198448		12	58	1	0	1.49906e-05	0.000219431	0.00025484	12	58				
SVEP1	79987	broad.mit.edu	37	9	113166722	113166722	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	be1a847c-f61a-48c1-b780-7af2c88f53be	g.chr9:113166722G>A	ENST00000401783.2	-	39	9887	c.9551C>T	c.(9550-9552)cCg>cTg	p.P3184L	SVEP1_ENST00000374469.1_Missense_Mutation_p.P3161L|SVEP1_ENST00000297826.5_Missense_Mutation_p.P1110L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3184	Sushi 30. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.P3187Q(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TATGTTTTCCGGGAGAGGACA	0.433																																						ENST00000401783.2																			1	Substitution - Missense(1)	p.P3187Q(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(9550-9552)cCg>cTg		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							259.0	256.0	257.0					9																	113166722		1882	4105	5987	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113166722G>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.9551C>T	9.37:g.113166722G>A	ENSP00000384917:p.Pro3184Leu					SVEP1_ENST00000374469.1_Missense_Mutation_p.P3161L|SVEP1_ENST00000297826.5_Missense_Mutation_p.P1110L	p.P3184L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			39	9887	-			3184			Sushi 30.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.9551C>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.563213	0.45694	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	D;D;D	0.84223	-1.82;-1.82;-1.82	5.52	5.52	0.82312	Complement control module (2);Sushi/SCR/CCP (3);	0.111999	0.64402	D	0.000008	D	0.88074	0.6339	L	0.59912	1.85	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	D	0.83812	0.0242	10	0.05525	T	0.97	.	14.2911	0.66278	0.0:0.0:0.8514:0.1486	.	3184	Q4LDE5	SVEP1_HUMAN	L	3184;3161;1110	ENSP00000384917:P3184L;ENSP00000363593:P3161L;ENSP00000297826:P1110L	ENSP00000297826:P1110L	P	-	2	0	SVEP1	112206543	1.000000	0.71417	0.066000	0.19879	0.069000	0.16628	6.039000	0.70972	2.610000	0.88304	0.591000	0.81541	CCG		0.433	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				57	314	0	0	0	0.000781405	0	57	314				
OLIG3	167826	broad.mit.edu	37	6	137815210	137815212	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:137815210_137815212delTGG	ENST00000367734.2	-	1	319_321	c.96_98delCCA	c.(94-99)caccag>cag	p.H32del		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	32	Poly-His.				spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.Q33K(1)		endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		ACGGCTCTCCtggtggtggtggt	0.596																																						ENST00000367734.2																			1	Substitution - Missense(1)	p.Q33K(1)	ovary(1)	endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(94-99)cag>ca		oligodendrocyte transcription factor 3																																				SO:0001651	inframe_deletion	167826				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:137815210_137815212delTGG	AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"""Basic helix-loop-helix proteins"""	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.96_98delCCA	6.37:g.137815219_137815221delTGG	ENSP00000356708:p.His32del						p.HQ32del	NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN		GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)	1	319_321	-	Breast(32;0.165)|Colorectal(23;0.24)		32			Poly-His.		Q8N8Q0	In_Frame_Del	DEL	ENST00000367734.2	37	c.96_98delCCA	CCDS5186.1																																																																																				0.596	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	NM_175747		8	124						8	124	---	---	---	---
LOC101928979	101928979	broad.mit.edu	37	1	145376652	145376653	+	lincRNA	INS	-	-	C			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	be1a847c-f61a-48c1-b780-7af2c88f53be	g.chr1:145376652_145376653insC	ENST00000433081.2	-	0	381_382																											gtgtagtcatacagtgggatca	0.342																																						ENST00000419817.1																			0																																																			0							g.chr1:145376652_145376653insC																													1.37:g.145376653_145376653dupC														0	641_642	-									RNA	INS	ENST00000433081.2	37																																																																																						0.342	RP11-458D21.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000100475.2			2	4						2	4	---	---	---	---
XKR5	389610	broad.mit.edu	37	8	6679301	6679302	+	RNA	DEL	CA	CA	-	rs370394378		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	be1a847c-f61a-48c1-b780-7af2c88f53be	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	---	---	---	---
