#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
GPR37L1	9283	broad.mit.edu	37	1	202092723	202092723	+	Splice_Site	SNP	T	T	C			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr1:202092723T>C	ENST00000367282.5	+	1	736		c.e1+2			NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1						negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						TTCATGGAGGTGAGTGTGTGT	0.512																																						ENST00000367282.5																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						c.e1+2		G protein-coupled receptor 37 like 1							91.0	89.0	90.0					1																	202092723		2199	4297	6496	SO:0001630	splice_region_variant	9283					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr1:202092723T>C	AJ310210	CCDS1420.1	1q32	2012-08-21	2006-02-15		ENSG00000170075	ENSG00000170075		"""GPCR / Class A : Orphans"""	14923	protein-coding gene	gene with protein product						9539149	Standard	NM_004767		Approved	ETBR-LP-2	uc001gxj.3	O60883	OTTHUMG00000035924	ENST00000367282.5:c.630+2T>C	1.37:g.202092723T>C								NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN			1	736	+								B2R7M9|Q5SXP7|Q86VP7	Splice_Site	SNP	ENST00000367282.5	37		CCDS1420.1	.	.	.	.	.	.	.	.	.	.	T	17.75	3.467237	0.63625	.	.	ENSG00000170075	ENST00000541334;ENST00000367282	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2861	0.66247	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPR37L1	200359346	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	6.293000	0.72731	1.765000	0.52091	0.260000	0.18958	.		0.512	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087496.2	NM_004767	Intron	17	28	17	28	---	---	---	---
CEP170	9859	broad.mit.edu	37	1	243362462	243362462	+	Silent	SNP	A	A	G			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr1:243362462A>G	ENST00000366542.1	-	7	582	c.531T>C	c.(529-531)taT>taC	p.Y177Y	CEP170_ENST00000366544.1_Silent_p.Y177Y|CEP170_ENST00000366543.1_Silent_p.Y177Y	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	177						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			ACGGCTGCCCATATAATGGAG	0.428																																						ENST00000366542.1																			0				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62						c.(529-531)taT>taC		centrosomal protein 170kDa							49.0	44.0	45.0					1																	243362462		1818	4079	5897	SO:0001819	synonymous_variant	9859					centriole|microtubule|spindle		g.chr1:243362462A>G	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.531T>C	1.37:g.243362462A>G						CEP170_ENST00000366544.1_Silent_p.Y177Y|CEP170_ENST00000366543.1_Silent_p.Y177Y	p.Y177Y	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		7	582	-	all_neural(11;0.101)	all_cancers(173;0.003)	177					O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Silent	SNP	ENST00000366542.1	37	c.531T>C	CCDS44339.1	.	.	.	.	.	.	.	.	.	.	A	8.872	0.949639	0.18431	.	.	ENSG00000143702	ENST00000336415	.	.	.	5.05	-0.0286	0.13921	.	.	.	.	.	T	0.55401	0.1918	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46219	-0.9207	4	.	.	.	-11.2018	9.1995	0.37249	0.7151:0.0:0.2849:0.0	.	.	.	.	T	79	.	.	M	-	2	0	CEP170	241429085	1.000000	0.71417	0.982000	0.44146	0.911000	0.54048	1.803000	0.38863	-0.266000	0.09339	-0.475000	0.04921	ATG		0.428	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		3	20	3	20	---	---	---	---
GPAT2	150763	broad.mit.edu	37	2	96689180	96689180	+	Silent	SNP	G	G	A			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr2:96689180G>A	ENST00000434632.1	-	19	2364	c.1905C>T	c.(1903-1905)ggC>ggT	p.G635G	GPAT2_ENST00000453542.1_Silent_p.G564G|GPAT2_ENST00000377137.3_Intron|GPAT2_ENST00000359548.4_Silent_p.G635G|FAHD2CP_ENST00000607780.1_RNA			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	635					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CTGGCCGGGAGCCTGGGGTCT	0.567																																						ENST00000434632.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						c.(1903-1905)ggC>ggT		glycerol-3-phosphate acyltransferase 2, mitochondrial							38.0	35.0	36.0					2																	96689180		1986	4161	6147	SO:0001819	synonymous_variant	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96689180G>A	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"""cancer/testis antigen 123"""					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.1905C>T	2.37:g.96689180G>A						GPAT2_ENST00000359548.4_Silent_p.G635G|GPAT2_ENST00000453542.1_Silent_p.G564G|GPAT2_ENST00000377137.3_Intron	p.G635G			Q6NUI2	GPAT2_HUMAN			19	2364	-			635					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Silent	SNP	ENST00000434632.1	37	c.1905C>T	CCDS42714.1																																																																																				0.567	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328		6	38	6	38	---	---	---	---
IL36B	27177	broad.mit.edu	37	2	113783764	113783764	+	Missense_Mutation	SNP	G	G	T			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr2:113783764G>T	ENST00000259213.4	-	5	414	c.307C>A	c.(307-309)Cta>Ata	p.L103I		NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	103					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-1 receptor binding (GO:0005149)			kidney(1)|ovary(1)|pancreas(1)	3						attccaactagtttccagcaa	0.463																																						ENST00000259213.4																			0				kidney(1)|ovary(1)|pancreas(1)	3						c.(307-309)Cta>Ata		interleukin 36, beta							184.0	157.0	166.0					2																	113783764		2203	4300	6503	SO:0001583	missense	27177				immune response	extracellular space	cytokine activity|interleukin-1 receptor binding	g.chr2:113783764G>T	AF201833	CCDS2109.1, CCDS2110.1	2q14	2011-07-14	2011-06-06	2011-06-06	ENSG00000136696	ENSG00000136696		"""Interleukins and interleukin receptors"""	15564	protein-coding gene	gene with protein product		605508	"""interleukin 1 family, member 8 (eta)"""	IL1F8		10625660, 10512743, 16646978	Standard	NM_173178		Approved	FIL1, IL-1H2, IL-1F8, FILI-(ETA), IL1-ETA, IL1H2, MGC126880, MGC126882	uc002tiq.1	Q9NZH7	OTTHUMG00000131338	ENST00000259213.4:c.307C>A	2.37:g.113783764G>T	ENSP00000259213:p.Leu103Ile						p.L103I	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN			5	414	-			103					Q3MIH0|Q53SR6|Q7RTZ7|Q9UHA5	Missense_Mutation	SNP	ENST00000259213.4	37	c.307C>A	CCDS2109.1	.	.	.	.	.	.	.	.	.	.	g	9.029	0.986828	0.18889	.	.	ENSG00000136696	ENST00000259213	T	0.19938	2.11	2.41	-2.29	0.06805	.	267.030000	0.00166	N	0.000002	T	0.13030	0.0316	N	0.22421	0.69	0.09310	N	1	B	0.12630	0.006	B	0.15052	0.012	T	0.24261	-1.0165	10	0.62326	D	0.03	.	0.4714	0.00532	0.3023:0.2507:0.2746:0.1723	.	103	Q9NZH7	IL36B_HUMAN	I	103	ENSP00000259213:L103I	ENSP00000259213:L103I	L	-	1	2	IL36B	113500235	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-0.596000	0.05720	-0.558000	0.06118	-0.318000	0.08688	CTA		0.463	IL36B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254110.1	NM_014438		18	29	18	29	---	---	---	---
ZNF713	349075	broad.mit.edu	37	7	56007346	56007346	+	Missense_Mutation	SNP	T	T	G			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr7:56007346T>G	ENST00000429591.2	+	4	978	c.940T>G	c.(940-942)Tca>Gca	p.S314A	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	314					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CCGTCAGCATTCATCCTTTAC	0.403																																						ENST00000429591.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(940-942)Tca>Gca		zinc finger protein 713							95.0	101.0	99.0					7																	56007346		2203	4300	6503	SO:0001583	missense	349075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:56007346T>G	AK097282	CCDS34639.1	7p11.2	2013-01-08			ENSG00000178665	ENSG00000178665		"""Zinc fingers, C2H2-type"", ""-"""	22043	protein-coding gene	gene with protein product							Standard	NM_182633		Approved	FLJ39963	uc003trc.1	Q8N859	OTTHUMG00000156175	ENST00000429591.2:c.940T>G	7.37:g.56007346T>G	ENSP00000416662:p.Ser314Ala					MRPS17_ENST00000426595.1_Intron	p.S314A	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		4	978	+	Breast(14;0.214)		314						Missense_Mutation	SNP	ENST00000429591.2	37	c.940T>G	CCDS34639.1	.	.	.	.	.	.	.	.	.	.	T	8.144	0.785937	0.16189	.	.	ENSG00000178665	ENST00000429591	T	0.35605	1.3	3.26	3.26	0.37387	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32852	N	0.005576	T	0.25938	0.0632	L	0.45470	1.425	0.09310	N	1	P	0.43788	0.817	B	0.39339	0.297	T	0.11324	-1.0592	10	0.33141	T	0.24	.	5.2223	0.15375	0.0:0.1296:0.0:0.8704	.	314	Q8N859	ZN713_HUMAN	A	314	ENSP00000416662:S314A	ENSP00000416662:S314A	S	+	1	0	ZNF713	55974840	0.008000	0.16893	1.000000	0.80357	0.469000	0.32828	1.288000	0.33296	1.731000	0.51592	0.383000	0.25322	TCA		0.403	ZNF713-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343297.1	NM_182633		40	62	40	62	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55537905	55537905	+	Missense_Mutation	SNP	A	A	C			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr8:55537905A>C	ENST00000220676.1	+	4	1611	c.1463A>C	c.(1462-1464)gAa>gCa	p.E488A		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	488					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TATAGTGAAGAAAGGGAAAGT	0.363																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(1462-1464)gAa>gCa		retinitis pigmentosa 1 (autosomal dominant)							74.0	73.0	73.0					8																	55537905		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55537905A>C	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1463A>C	8.37:g.55537905A>C	ENSP00000220676:p.Glu488Ala						p.E488A	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	1611	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	488						Missense_Mutation	SNP	ENST00000220676.1	37	c.1463A>C	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	11.23	1.576775	0.28092	.	.	ENSG00000104237	ENST00000220676	T	0.35973	1.28	5.39	2.98	0.34508	.	0.311825	0.27705	N	0.018195	T	0.20659	0.0497	N	0.20986	0.625	0.33231	D	0.555984	B	0.24533	0.105	B	0.22880	0.042	T	0.14008	-1.0488	10	0.54805	T	0.06	.	3.5997	0.08020	0.6574:0.1389:0.0708:0.1329	.	488	P56715	RP1_HUMAN	A	488	ENSP00000220676:E488A	ENSP00000220676:E488A	E	+	2	0	RP1	55700458	1.000000	0.71417	0.997000	0.53966	0.960000	0.62799	1.907000	0.39897	0.352000	0.24053	0.533000	0.62120	GAA		0.363	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		16	28	16	28	---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8460280	8460280	+	Intron	SNP	T	T	C			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr9:8460280T>C	ENST00000381196.4	-	30	4419				PTPRD_ENST00000356435.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Splice_Site_p.R878R|PTPRD_ENST00000360074.4_Intron|PTPRD_ENST00000358503.5_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D						heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TAAACACTTTTCCAAAAATAA	0.328										TSP Lung(15;0.13)																												ENST00000537002.1																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(2632-2634)agA>agG		protein tyrosine phosphatase, receptor type, D							29.0	29.0	29.0					9																	8460280		875	1990	2865	SO:0001627	intron_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8460280T>C	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3875+130A>G	9.37:g.8460280T>C		TSP Lung(15;0.13)				PTPRD_ENST00000381196.4_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Intron|PTPRD_ENST00000356435.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000360074.4_Intron|PTPRD_ENST00000358503.5_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron	p.R878R			P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	16	2736	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1292			Fibronectin type-III 6.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Splice_Site	SNP	ENST00000381196.4	37	c.2634A>G	CCDS43786.1																																																																																				0.328	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			6	7	6	7	---	---	---	---
CDH23	64072	broad.mit.edu	37	10	73558936	73558937	+	Missense_Mutation	DNP	TC	TC	CA			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr10:73558936_73558937TC>CA	ENST00000224721.6	+	50	7143_7144	c.7138_7139TC>CA	c.(7138-7140)TCa>CAa	p.S2380Q	CDH23_ENST00000398788.3_Missense_Mutation_p.S135Q|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2375	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.		P -> L (in dbSNP:rs4747195). {ECO:0000269|PubMed:11138009, ECO:0000269|PubMed:12075507, ECO:0000269|PubMed:12522556, ECO:0000269|PubMed:18429043, ECO:0000269|PubMed:24767429}.		calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CGTGAGGGCCTCAGACAACGGG	0.574																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(7138-7140)Tca>Cca|c.(7138-7140)tCa>tAa		cadherin-related 23																																				SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73558936T>C|g.chr10:73558937C>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	Exception_encountered	10.37:g.73558936_73558937delinsCA	ENSP00000224721:p.Ser2380Gln					CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.S135P|CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Nonsense_Mutation_p.S135*	p.S2380P|p.S2380*	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			50	7143|7144	+			2375		P -> L (in dbSNP:rs4747195).	Cadherin 22.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000224721.6	37	c.7138T>C|c.7139C>A																																																																																					0.574	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		15	18	15	18	---	---	---	---
BMPR1A	657	broad.mit.edu	37	10	88676986	88676986	+	Missense_Mutation	SNP	A	A	T			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr10:88676986A>T	ENST00000372037.3	+	9	1308	c.771A>T	c.(769-771)aaA>aaT	p.K257N		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	257	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|developmental growth (GO:0048589)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic digit morphogenesis (GO:0042733)|embryonic organ development (GO:0048568)|endocardial cushion formation (GO:0003272)|heart formation (GO:0060914)|hindlimb morphogenesis (GO:0035137)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lateral mesoderm development (GO:0048368)|lung development (GO:0030324)|mesendoderm development (GO:0048382)|mesoderm formation (GO:0001707)|Mullerian duct regression (GO:0001880)|negative regulation of neurogenesis (GO:0050768)|neural crest cell development (GO:0014032)|neural plate mediolateral regionalization (GO:0021998)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|paraxial mesoderm structural organization (GO:0048352)|pituitary gland development (GO:0021983)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of lateral mesodermal cell fate specification (GO:0048378)|somitogenesis (GO:0001756)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway (GO:0007179)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						GTGGCGAAAAAGTGGCGGTGA	0.453			"""Mis, N, F"""			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2																												Ovarian(190;603 2086 22044 30335 47971)	ENST00000372037.3			yes	Rec		Juvenile polyposis	10	10q22.3	657	"""Mis, N, F"""	"""bone morphogenetic protein receptor, type IA"""			E		gastrointestinal polyps			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						c.(769-771)aaA>aaT		bone morphogenetic protein receptor, type IA							41.0	40.0	41.0					10																	88676986		2202	4281	6483	SO:0001583	missense	657	Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HMPS2	BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity	g.chr10:88676986A>T	BC028383	CCDS7378.1	10q22.3	2014-09-17			ENSG00000107779	ENSG00000107779		"""CD molecules"""	1076	protein-coding gene	gene with protein product		601299		ACVRLK3		8397373, 9730621	Standard	NM_004329		Approved	ALK3, CD292	uc001kdy.3	P36894	OTTHUMG00000018657	ENST00000372037.3:c.771A>T	10.37:g.88676986A>T	ENSP00000361107:p.Lys257Asn						p.K257N	NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN			9	1308	+						Protein kinase.		A8K6U9|Q8NEN8	Missense_Mutation	SNP	ENST00000372037.3	37	c.771A>T	CCDS7378.1	.	.	.	.	.	.	.	.	.	.	A	6.634	0.485438	0.12641	.	.	ENSG00000107779	ENST00000224764;ENST00000372037	T	0.64438	-0.1	5.63	-2.17	0.07059	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043295	0.85682	D	0.000000	T	0.43100	0.1232	L	0.39692	1.235	0.58432	D	0.999999	B	0.26744	0.158	B	0.26517	0.07	T	0.43829	-0.9367	10	0.05436	T	0.98	.	11.8104	0.52179	0.5405:0.0:0.4594:0.0	.	257	P36894	BMR1A_HUMAN	N	257	ENSP00000361107:K257N	ENSP00000224764:K257N	K	+	3	2	BMPR1A	88666966	0.982000	0.34865	0.964000	0.40570	0.936000	0.57629	0.242000	0.18087	-0.576000	0.05974	0.533000	0.62120	AAA		0.453	BMPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049170.3	NM_004329		8	20	8	20	---	---	---	---
COL17A1	1308	broad.mit.edu	37	10	105832989	105832989	+	Nonsense_Mutation	SNP	T	T	A			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr10:105832989T>A	ENST00000353479.5	-	7	684	c.394A>T	c.(394-396)Aga>Tga	p.R132*	COL17A1_ENST00000369733.3_Nonsense_Mutation_p.R132*|COL17A1_ENST00000393211.3_Nonsense_Mutation_p.R132*	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	132	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CTCCGTCCTCTGGTTGAAGAA	0.418																																						ENST00000353479.5																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62						c.(394-396)Aga>Tga		collagen, type XVII, alpha 1							215.0	226.0	222.0					10																	105832989		2203	4300	6503	SO:0001587	stop_gained	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105832989T>A	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.394A>T	10.37:g.105832989T>A	ENSP00000340937:p.Arg132*					COL17A1_ENST00000369733.3_Nonsense_Mutation_p.R132*|COL17A1_ENST00000393211.3_Nonsense_Mutation_p.R132*	p.R132*	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	7	684	-		Colorectal(252;0.103)|Breast(234;0.122)	132			Nonhelical region (NC16).		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Nonsense_Mutation	SNP	ENST00000353479.5	37	c.394A>T	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	T	38	6.775772	0.97829	.	.	ENSG00000065618	ENST00000353479;ENST00000369733;ENST00000541872;ENST00000393211	.	.	.	5.36	4.21	0.49690	.	0.000000	0.50627	D	0.000114	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.565	10.9506	0.47327	0.0:0.0:0.2975:0.7025	.	.	.	.	X	132;132;116;132	.	ENSP00000340937:R132X	R	-	1	2	COL17A1	105822979	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	1.879000	0.39618	0.862000	0.35528	0.533000	0.62120	AGA		0.418	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		7	159	7	159	---	---	---	---
BEST1	7439	broad.mit.edu	37	11	61730330	61730330	+	Missense_Mutation	SNP	A	A	C			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr11:61730330A>C	ENST00000378043.4	+	10	2347	c.1704A>C	c.(1702-1704)aaA>aaC	p.K568N	BEST1_ENST00000449131.2_Missense_Mutation_p.K508N|BEST1_ENST00000378042.3_Missense_Mutation_p.K481N|BEST1_ENST00000534553.1_3'UTR|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000301774.9_Missense_Mutation_p.K196N|FTH1_ENST00000529631.1_Intron	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	568					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						CTACACTCAAAGATCACATGG	0.502																																						ENST00000449131.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(1522-1524)aaA>aaC		bestrophin 1							133.0	145.0	140.0					11																	61730330		2202	4299	6501	SO:0001583	missense	7439				response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity	g.chr11:61730330A>C	AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	12703	protein-coding gene	gene with protein product	"""Best disease"""	607854	"""vitelliform macular dystrophy 2"""	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.1704A>C	11.37:g.61730330A>C	ENSP00000367282:p.Lys568Asn					BEST1_ENST00000378042.3_Missense_Mutation_p.K481N|BEST1_ENST00000378043.4_Missense_Mutation_p.K568N|BEST1_ENST00000301774.9_Missense_Mutation_p.K196N|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000534553.1_3'UTR|FTH1_ENST00000529631.1_Intron	p.K508N	NM_001139443.1	NP_001132915.1	O76090	BEST1_HUMAN			9	1610	+			568					A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Missense_Mutation	SNP	ENST00000378043.4	37	c.1524A>C	CCDS31580.1	.	.	.	.	.	.	.	.	.	.	A	13.05	2.122655	0.37436	.	.	ENSG00000167995	ENST00000378043;ENST00000378042;ENST00000301774;ENST00000449131	D;D;T;D	0.98135	-4.68;-4.55;-0.91;-4.74	4.6	0.935	0.19483	.	2.351530	0.01986	N	0.045206	D	0.94984	0.8377	L	0.29908	0.895	0.09310	N	0.999993	B;B;B	0.33238	0.403;0.18;0.13	B;B;B	0.33196	0.159;0.076;0.064	D	0.89242	0.3584	10	0.87932	D	0	-1.2766	7.13	0.25496	0.7113:0.0:0.2887:0.0	.	481;568;508	O76090-4;O76090;O76090-3	.;BEST1_HUMAN;.	N	568;481;196;508	ENSP00000367282:K568N;ENSP00000367281:K481N;ENSP00000301774:K196N;ENSP00000399709:K508N	ENSP00000301774:K196N	K	+	3	2	BEST1	61486906	0.071000	0.21146	0.000000	0.03702	0.006000	0.05464	0.934000	0.28910	0.049000	0.15920	0.459000	0.35465	AAA		0.502	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394715.1	NM_004183		10	22	10	22	---	---	---	---
ADAMTS8	11095	broad.mit.edu	37	11	130278687	130278687	+	Missense_Mutation	SNP	G	G	T			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr11:130278687G>T	ENST00000257359.6	-	7	2605	c.1899C>A	c.(1897-1899)agC>agA	p.S633R		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	633	Cys-rich.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CTTTGAACTCGCTCCTCCCCC	0.642																																						ENST00000257359.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(1897-1899)agC>agA		ADAM metallopeptidase with thrombospondin type 1 motif, 8							89.0	92.0	91.0					11																	130278687		1917	4123	6040	SO:0001583	missense	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130278687G>T	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1899C>A	11.37:g.130278687G>T	ENSP00000257359:p.Ser633Arg						p.S633R	NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	7	2605	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	633			Cys-rich.		Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	c.1899C>A	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247151	0.39697	.	.	ENSG00000134917	ENST00000531752;ENST00000257359;ENST00000414575	T	0.03553	3.89	5.76	-11.5	0.00074	.	0.072732	0.85682	N	0.000000	T	0.03564	0.0102	L	0.35793	1.09	0.26031	N	0.981733	B;B	0.25850	0.136;0.029	B;B	0.32724	0.151;0.023	T	0.42548	-0.9445	10	0.72032	D	0.01	.	17.747	0.88423	0.2408:0.1517:0.6075:0.0	.	633;114	Q9UP79;B3KVX9	ATS8_HUMAN;.	R	31;633;662	ENSP00000257359:S633R	ENSP00000257359:S633R	S	-	3	2	ADAMTS8	129783897	0.000000	0.05858	0.042000	0.18584	0.973000	0.67179	-2.970000	0.00668	-3.788000	0.00107	-1.063000	0.02288	AGC		0.642	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		30	72	30	72	---	---	---	---
NOS1	4842	broad.mit.edu	37	12	117696254	117696254	+	Missense_Mutation	SNP	C	C	T	rs544602522		TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr12:117696254C>T	ENST00000338101.4	-	15	2483	c.2479G>A	c.(2479-2481)Ggc>Agc	p.G827S	NOS1_ENST00000317775.6_Missense_Mutation_p.G827S|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		AAAGCACAGCCGAATTTCTGG	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		20568	0.0		0.0	False		,,,				2504	0.001				Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(2479-2481)Ggc>Agc		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						80.0	79.0	79.0					12																	117696254		1932	4136	6068	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117696254C>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.2479G>A	12.37:g.117696254C>T	ENSP00000337459:p.Gly827Ser					NOS1_ENST00000338101.4_Missense_Mutation_p.G827S|NOS1_ENST00000344089.3_3'UTR	p.G827S	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	16	3164	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		827			Flavodoxin-like.			Missense_Mutation	SNP	ENST00000338101.4	37	c.2479G>A	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.890015	0.72524	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.58358	0.34;0.34	5.42	5.42	0.78866	Flavodoxin/nitric oxide synthase (2);	0.000000	0.85682	D	0.000000	T	0.41419	0.1158	N	0.16201	0.385	0.80722	D	1	D	0.55800	0.973	B	0.43386	0.418	T	0.39603	-0.9606	10	0.40728	T	0.16	-29.1727	18.8369	0.92167	0.0:1.0:0.0:0.0	.	827	P29475	NOS1_HUMAN	S	722;827;827;827	ENSP00000320758:G827S;ENSP00000337459:G827S	ENSP00000320758:G827S	G	-	1	0	NOS1	116180637	1.000000	0.71417	0.991000	0.47740	0.878000	0.50629	5.235000	0.65348	2.537000	0.85549	0.655000	0.94253	GGC		0.507	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			11	17	11	17	---	---	---	---
USP12	219333	broad.mit.edu	37	13	27745742	27745742	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr13:27745742G>A	ENST00000282344.6	-	1	291	c.35C>T	c.(34-36)tCc>tTc	p.S12F	USP12-AS2_ENST00000452222.1_RNA|USP12-AS1_ENST00000440657.1_RNA	NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	12					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		GGTACAGATGGAGGCGAATTT	0.721																																					Ovarian(37;808 911 7590 44442 44991)	ENST00000282344.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(34-36)tCc>tTc		ubiquitin specific peptidase 12							11.0	11.0	11.0					13																	27745742		2182	4269	6451	SO:0001583	missense	219333				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr13:27745742G>A	AL049221	CCDS31952.1	13q12.13	2010-05-12	2005-08-08	2003-10-08	ENSG00000152484	ENSG00000152484		"""Ubiquitin-specific peptidases"""	20485	protein-coding gene	gene with protein product			"""ubiquitin specific protease 12 like 1"", ""ubiquitin specific protease 12"""	USP12L1		12838346	Standard	NM_182488		Approved		uc001uqy.3	O75317	OTTHUMG00000016626	ENST00000282344.6:c.35C>T	13.37:g.27745742G>A	ENSP00000282344:p.Ser12Phe						p.S12F	NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)	1	291	-		Lung SC(185;0.0161)	12					A8K0X0|Q5VZV3|Q8TC49	Missense_Mutation	SNP	ENST00000282344.6	37	c.35C>T	CCDS31952.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001129	0.54254	.	.	ENSG00000152484	ENST00000282344	T	0.24538	1.85	3.45	3.45	0.39498	.	0.231780	0.27901	U	0.017399	T	0.17662	0.0424	N	0.19112	0.55	0.53688	D	0.999972	B	0.06786	0.001	B	0.06405	0.002	T	0.04427	-1.0952	10	0.38643	T	0.18	-0.0018	14.541	0.67995	0.0:0.0:1.0:0.0	.	12	O75317	UBP12_HUMAN	F	12	ENSP00000282344:S12F	ENSP00000282344:S12F	S	-	2	0	USP12	26643742	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.389000	0.79806	1.487000	0.48415	0.298000	0.19748	TCC		0.721	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044264.1	NM_182488		8	7	8	7	---	---	---	---
DAAM1	23002	broad.mit.edu	37	14	59797408	59797408	+	Splice_Site	SNP	T	T	C			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr14:59797408T>C	ENST00000395125.1	+	12	1583		c.e12+2		DAAM1_ENST00000360909.3_Splice_Site|DAAM1_ENST00000351081.1_Splice_Site	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1						actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CTCAGCAGGGTGAGGTCTTCC	0.512																																						ENST00000395125.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.e12+2		dishevelled associated activator of morphogenesis 1							52.0	53.0	52.0					14																	59797408		2203	4300	6503	SO:0001630	splice_region_variant	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59797408T>C	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.1560+2T>C	14.37:g.59797408T>C						DAAM1_ENST00000360909.3_Splice_Site|DAAM1_ENST00000351081.1_Splice_Site		NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	12	1583	+								Q86U34|Q8N1Z8|Q8TB39	Splice_Site	SNP	ENST00000395125.1	37		CCDS9737.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.486724	0.84854	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4622	0.84064	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DAAM1	58867161	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.951000	0.87819	2.289000	0.77006	0.533000	0.62120	.		0.512	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992	Intron	9	10	9	10	---	---	---	---
L3HYPDH	112849	broad.mit.edu	37	14	59942682	59942682	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr14:59942682C>T	ENST00000247194.4	-	4	957	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	L3HYPDH_ENST00000487285.1_Missense_Mutation_p.A111T|L3HYPDH_ENST00000543619.1_5'Flank	NM_144581.1	NP_653182.1	Q96EM0	T3HPD_HUMAN	L-3-hydroxyproline dehydratase (trans-)	282					metabolic process (GO:0008152)		hydro-lyase activity (GO:0016836)|trans-L-3-hydroxyproline dehydratase activity (GO:0050346)									L-Proline(DB00172)	TACTGTAAGGCAATTCGGGCT	0.458																																						ENST00000247194.4																			0											c.(844-846)Gcc>Acc		L-3-hydroxyproline dehydratase (trans-)							87.0	82.0	84.0					14																	59942682		2203	4300	6503	SO:0001583	missense	112849							g.chr14:59942682C>T	AI762327	CCDS9739.1	14q23.1	2012-08-15	2012-08-15	2012-08-15	ENSG00000126790	ENSG00000126790	4.2.1.77		20488	protein-coding gene	gene with protein product	"""trans-L-3-hydroxyproline dehydratase"""	614811	"""chromosome 14 open reading frame 149"""	C14orf149		22528483	Standard	NM_144581		Approved	FLJ25436	uc001xee.1	Q96EM0	OTTHUMG00000028941	ENST00000247194.4:c.844G>A	14.37:g.59942682C>T	ENSP00000247194:p.Ala282Thr					L3HYPDH_ENST00000487285.1_Missense_Mutation_p.A111T	p.A282T	NM_144581.1	NP_653182.1					4	957	-								Q96LJ5	Missense_Mutation	SNP	ENST00000247194.4	37	c.844G>A	CCDS9739.1	.	.	.	.	.	.	.	.	.	.	C	34	5.403894	0.96051	.	.	ENSG00000126790	ENST00000247194;ENST00000487285;ENST00000481608	T;T;T	0.41758	0.99;0.99;0.99	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.76133	0.3945	H	0.95294	3.65	0.80722	D	1	D	0.71674	0.998	D	0.77004	0.989	D	0.83807	0.0239	9	.	.	.	.	18.925	0.92541	0.0:1.0:0.0:0.0	.	282	Q96EM0	PRCM_HUMAN	T	282;111;111	ENSP00000247194:A282T;ENSP00000431608:A111T;ENSP00000423874:A111T	.	A	-	1	0	C14orf149	59012435	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.211000	0.77933	2.556000	0.86216	0.453000	0.30009	GCC		0.458	L3HYPDH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072254.5	NM_144581		19	25	19	25	---	---	---	---
PDPR	55066	broad.mit.edu	37	16	70187414	70187414	+	Missense_Mutation	SNP	G	G	C			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr16:70187414G>C	ENST00000288050.4	+	18	3130	c.2173G>C	c.(2173-2175)Gat>Cat	p.D725H	PDPR_ENST00000398122.3_Missense_Mutation_p.D625H|PDPR_ENST00000568530.1_Missense_Mutation_p.D725H|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000562100.1_Intron|PDPR_ENST00000542659.1_Missense_Mutation_p.D70H|PDPR_ENST00000567046.1_Missense_Mutation_p.D83H	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	725					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CTGGGGTCAGGATATAAATAA	0.478																																						ENST00000288050.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33						c.(2173-2175)Gat>Cat		pyruvate dehydrogenase phosphatase regulatory subunit							87.0	90.0	89.0					16																	70187414		1925	4137	6062	SO:0001583	missense	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70187414G>C		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.2173G>C	16.37:g.70187414G>C	ENSP00000288050:p.Asp725His					PDPR_ENST00000568530.1_Missense_Mutation_p.D725H|PDPR_ENST00000567046.1_Missense_Mutation_p.D83H|PDPR_ENST00000542659.1_Missense_Mutation_p.D70H|PDPR_ENST00000562100.1_Intron|PDPR_ENST00000398122.3_Missense_Mutation_p.D625H	p.D725H	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	18	3130	+			725					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	37	c.2173G>C	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	G	35	5.427965	0.96131	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000542659	D;D;D	0.88975	-2.45;-2.45;-2.45	6.04	6.04	0.98038	Glycine cleavage T-protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96269	0.8783	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96531	0.9393	10	0.87932	D	0	.	19.5674	0.95401	0.0:0.0:1.0:0.0	.	725	Q8NCN5	PDPR_HUMAN	H	725;625;70	ENSP00000288050:D725H;ENSP00000381190:D625H;ENSP00000441690:D70H	ENSP00000288050:D725H	D	+	1	0	PDPR	68744915	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.793000	0.99091	2.873000	0.98535	0.561000	0.74099	GAT		0.478	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		5	8	5	8	---	---	---	---
SPOP	8405	broad.mit.edu	37	17	47696450	47696450	+	Missense_Mutation	SNP	A	A	G			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr17:47696450A>G	ENST00000393328.2	-	6	738	c.373T>C	c.(373-375)Ttt>Ctt	p.F125L	SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000503676.1_Missense_Mutation_p.F125L|SPOP_ENST00000393331.3_Missense_Mutation_p.F125L|SPOP_ENST00000504102.1_Missense_Mutation_p.F125L|SPOP_ENST00000347630.2_Missense_Mutation_p.F125L	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	125	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F125V(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CCTTGCACAAACCTATATGCC	0.433										Prostate(2;0.17)																												ENST00000393331.3																			1	Substitution - Missense(1)	p.F125V(1)	prostate(1)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(373-375)Ttt>Ctt		speckle-type POZ protein							120.0	123.0	122.0					17																	47696450		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696450A>G	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.373T>C	17.37:g.47696450A>G	ENSP00000377001:p.Phe125Leu	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.F125L|SPOP_ENST00000347630.2_Missense_Mutation_p.F125L|SPOP_ENST00000503676.1_Missense_Mutation_p.F125L|SPOP_ENST00000393328.2_Missense_Mutation_p.F125L	p.F125L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	843	-			125			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.373T>C	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	33	5.252129	0.95336	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.73598	0.3607	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76358	-0.2988	10	0.52906	T	0.07	-15.9789	15.258	0.73599	1.0:0.0:0.0:0.0	.	125	O43791	SPOP_HUMAN	L	125;125;125;125;9;125;78;125;125;125;125	ENSP00000377001:F125L;ENSP00000377004:F125L;ENSP00000240327:F125L;ENSP00000425905:F125L;ENSP00000420908:F125L;ENSP00000426986:F125L;ENSP00000420960:F125L;ENSP00000426262:F125L;ENSP00000424119:F125L	ENSP00000240327:F125L	F	-	1	0	SPOP	45051449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.131000	0.94446	2.261000	0.74972	0.460000	0.39030	TTT		0.433	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		36	46	36	46	---	---	---	---
C19orf24	55009	broad.mit.edu	37	19	1279101	1279101	+	3'UTR	SNP	C	C	T			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr19:1279101C>T	ENST00000409293.4	+	0	1247				C19orf24_ENST00000469144.1_Missense_Mutation_p.L98F	NM_017914.3	NP_060384.3	Q9BVV8	CS024_HUMAN	chromosome 19 open reading frame 24							cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)							Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGACTTGTGCCTCTCTCCTGC	0.667																																						ENST00000469144.1																			0											c.(292-294)Ctc>Ttc		chromosome 19 open reading frame 24							80.0	71.0	74.0					19																	1279101		2202	4300	6502	SO:0001624	3_prime_UTR_variant	55009					cytoplasm|extracellular region part|integral to membrane		g.chr19:1279101C>T	BC000890	CCDS12060.2	19p13.3	2012-10-24			ENSG00000228300	ENSG00000228300			26073	protein-coding gene	gene with protein product						16847563	Standard	NM_017914		Approved	FLJ20640	uc002lrw.4	Q9BVV8	OTTHUMG00000153928	ENST00000409293.4:c.*325C>T	19.37:g.1279101C>T						C19orf24_ENST00000409293.4_3'UTR	p.L98F			Q9BVV8	CS024_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	601	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)	39					Q9NWS2	Missense_Mutation	SNP	ENST00000409293.4	37	c.292C>T	CCDS12060.2	.	.	.	.	.	.	.	.	.	.	C	1.538	-0.542471	0.04053	.	.	ENSG00000226593	ENST00000416408	.	.	.	2.84	-5.68	0.02436	.	.	.	.	.	T	0.34221	0.0890	.	.	.	.	.	.	B	0.23854	0.092	B	0.26094	0.066	T	0.23154	-1.0196	6	0.87932	D	0	.	7.401	0.26965	0.0:0.2854:0.1224:0.5921	.	98	D6W5Y7	.	F	98	.	ENSP00000407816:L98F	L	+	1	0	AC004258.1	1230101	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.480000	0.00983	-2.524000	0.00495	-2.649000	0.00149	CTC		0.667	C19orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333049.2	NM_017914		16	34	16	34	---	---	---	---
HIPK4	147746	broad.mit.edu	37	19	40890039	40890039	+	Missense_Mutation	SNP	T	T	G			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr19:40890039T>G	ENST00000291823.2	-	2	757	c.473A>C	c.(472-474)gAc>gCc	p.D158A		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	158	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			GGATCCGAAGTCAATCACCTG	0.637																																						ENST00000291823.2																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20						c.(472-474)gAc>gCc		homeodomain interacting protein kinase 4							48.0	51.0	50.0					19																	40890039		2203	4300	6503	SO:0001583	missense	147746					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr19:40890039T>G	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.473A>C	19.37:g.40890039T>G	ENSP00000291823:p.Asp158Ala						p.D158A	NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		2	757	-			158			Protein kinase.		A8K863|Q96M54	Missense_Mutation	SNP	ENST00000291823.2	37	c.473A>C	CCDS12555.1	.	.	.	.	.	.	.	.	.	.	T	15.17	2.753801	0.49362	.	.	ENSG00000160396	ENST00000291823;ENST00000452139	D	0.93019	-3.15	5.84	5.84	0.93424	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000013	D	0.98264	0.9425	H	0.99740	4.74	0.38537	D	0.949127	D	0.64830	0.994	D	0.67103	0.949	D	0.99934	1.1347	10	0.87932	D	0	.	13.7399	0.62840	0.0:0.0:0.0:1.0	.	158	Q8NE63	HIPK4_HUMAN	A	158;123	ENSP00000291823:D158A	ENSP00000291823:D158A	D	-	2	0	HIPK4	45581879	1.000000	0.71417	1.000000	0.80357	0.237000	0.25408	4.398000	0.59697	2.234000	0.73211	0.460000	0.39030	GAC		0.637	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	NM_144685		15	26	15	26	---	---	---	---
PSG3	5671	broad.mit.edu	37	19	43237164	43237164	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr19:43237164C>T	ENST00000327495.5	-	3	665	c.481G>A	c.(481-483)Gac>Aac	p.D161N	PSG3_ENST00000595140.1_Missense_Mutation_p.D161N|PSG3_ENST00000490592.1_5'Flank	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	161	Ig-like C2-type 1.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.D161N(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GCCTCCATGTCCTCCCTGGGG	0.537																																						ENST00000327495.5																			1	Substitution - Missense(1)	p.D161N(1)	ovary(1)	central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(481-483)Gac>Aac		pregnancy specific beta-1-glycoprotein 3							204.0	200.0	201.0					19																	43237164		2203	4300	6503	SO:0001583	missense	5671				defense response|female pregnancy	extracellular region		g.chr19:43237164C>T		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.481G>A	19.37:g.43237164C>T	ENSP00000332215:p.Asp161Asn					PSG3_ENST00000595140.1_Missense_Mutation_p.D161N	p.D161N	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN			3	665	-		Prostate(69;0.00682)	161			Ig-like C2-type 1.		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	c.481G>A	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	-	0.009	-1.858444	0.00558	.	.	ENSG00000221826	ENST00000327495	T	0.12569	2.67	1.59	-3.18	0.05186	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03915	0.0110	N	0.05158	-0.105	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.13407	0.007;0.009	T	0.39981	-0.9587	9	0.02654	T	1	.	3.1133	0.06366	0.0:0.2745:0.3381:0.3874	.	139;161	Q08266;Q16557	.;PSG3_HUMAN	N	161	ENSP00000332215:D161N	ENSP00000332215:D161N	D	-	1	0	PSG3	47929004	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.478000	0.02329	-0.880000	0.03997	0.393000	0.25936	GAC		0.537	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		4	126	4	126	---	---	---	---
FRG1B	284802	broad.mit.edu	37	20	29628268	29628268	+	Missense_Mutation	SNP	A	A	T			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr20:29628268A>T	ENST00000278882.3	+	6	650	c.270A>T	c.(268-270)agA>agT	p.R90S	FRG1B_ENST00000358464.4_Missense_Mutation_p.R90S|FRG1B_ENST00000439954.2_Missense_Mutation_p.R95S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	90										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GCTTTATTAGATGCAATGAAG	0.358																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(268-270)agA>agT																																						SO:0001583	missense	284802							g.chr20:29628268A>T			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.270A>T	20.37:g.29628268A>T	ENSP00000278882:p.Arg90Ser					FRG1B_ENST00000358464.4_Missense_Mutation_p.R90S|FRG1B_ENST00000439954.2_Missense_Mutation_p.R95S	p.R90S							6	650	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.270A>T		.	.	.	.	.	.	.	.	.	.	a	0.839	-0.742602	0.03088	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.38240	1.15	2.08	2.08	0.27032	Actin cross-linking (1);	0.219751	0.48767	D	0.000175	T	0.13200	0.0320	.	.	.	0.23454	N	0.997647	B;B	0.12630	0.001;0.006	B;B	0.12837	0.007;0.008	T	0.32613	-0.9900	9	0.02654	T	1	.	8.0833	0.30758	1.0:0.0:0.0:0.0	.	95;90	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	90;95;90	ENSP00000408863:R95S	ENSP00000278882:R90S	R	+	3	2	FRG1B	28241929	0.998000	0.40836	1.000000	0.80357	0.970000	0.65996	0.505000	0.22642	1.208000	0.43306	0.347000	0.21830	AGA		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	73	4	73	---	---	---	---
ELF4	2000	broad.mit.edu	37	X	129208569	129208569	+	Missense_Mutation	SNP	A	A	C			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chrX:129208569A>C	ENST00000308167.5	-	3	613	c.234T>G	c.(232-234)agT>agG	p.S78R	ELF4_ENST00000335997.7_Missense_Mutation_p.S78R	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TCAGCAAAAAACTGCCTTCCA	0.517			T	ERG	AML																																	ENST00000308167.5				Dom	yes		X	Xq26	2000	T	E74-like factor 4 (ets domain transcription factor)			L	ERG		AML		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(232-234)agT>agG		E74-like factor 4 (ets domain transcription factor)							145.0	105.0	119.0					X																	129208569		2203	4300	6503	SO:0001583	missense	2000				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:129208569A>C	U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.234T>G	X.37:g.129208569A>C	ENSP00000311280:p.Ser78Arg					ELF4_ENST00000335997.7_Missense_Mutation_p.S78R	p.S78R	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN			3	613	-			78						Missense_Mutation	SNP	ENST00000308167.5	37	c.234T>G	CCDS14617.1	.	.	.	.	.	.	.	.	.	.	A	17.28	3.349300	0.61183	.	.	ENSG00000102034	ENST00000335997;ENST00000308167;ENST00000434609	T;T;T	0.44482	0.92;0.92;0.92	5.71	-4.42	0.03579	.	0.337981	0.33610	N	0.004738	T	0.29491	0.0735	N	0.22421	0.69	0.22266	N	0.99924	P	0.41643	0.758	P	0.50162	0.633	T	0.28364	-1.0046	10	0.49607	T	0.09	.	4.7178	0.12903	0.1801:0.1591:0.528:0.1327	.	78	Q99607	ELF4_HUMAN	R	78;78;60	ENSP00000338608:S78R;ENSP00000311280:S78R;ENSP00000407572:S60R	ENSP00000311280:S78R	S	-	3	2	ELF4	129036250	0.201000	0.23410	0.770000	0.31555	0.908000	0.53690	-0.308000	0.08156	-0.942000	0.03695	-0.360000	0.07572	AGT		0.517	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421		23	5	23	5	---	---	---	---
PACS1	55690	broad.mit.edu	37	11	65838130	65838130	+	Frame_Shift_Del	DEL	C	C	-			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr11:65838130delC	ENST00000320580.4	+	1	206	c.173delC	c.(172-174)tcgfs	p.S59fs	RP11-1167A19.2_ENST00000529036.1_5'Flank	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	59	Ser-rich.				protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TCGTCGTCCTCGTCCACCTCG	0.766																																						ENST00000320580.4																		RBM14/PACS1(2)	0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						c.(172-174)tcgfs		phosphofurin acidic cluster sorting protein 1							7.0	9.0	8.0					11																	65838130		2135	4191	6326	SO:0001589	frameshift_variant	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:65838130delC	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.173delC	11.37:g.65838130delC	ENSP00000316454:p.Ser59fs						p.S59fs	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN			1	206	+			59			Ser-rich.		Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Frame_Shift_Del	DEL	ENST00000320580.4	37	c.173delC	CCDS8129.1																																																																																				0.766	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		2	4	2	4	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72828649	72828650	+	Frame_Shift_Ins	INS	-	-	A			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr16:72828649_72828650insA	ENST00000268489.5	-	9	8603_8604	c.7931_7932insT	c.(7930-7932)ttgfs	p.L2644fs	ZFHX3_ENST00000397992.5_Frame_Shift_Ins_p.L1730fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2644					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TGGTTGTTCTCAAACGCTTGTC	0.49																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(7930-7932)ttgfs		zinc finger homeobox 3																																				SO:0001589	frameshift_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72828649_72828650insA	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.7932dupT	16.37:g.72828652_72828652dupA	ENSP00000268489:p.Leu2644fs					ZFHX3_ENST00000397992.5_Frame_Shift_Ins_p.L1730fs	p.L2644fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	8603_8604	-		Ovarian(137;0.13)	2644					D3DWS8|O15101|Q13719	Frame_Shift_Ins	INS	ENST00000268489.5	37	c.7931_7932insT	CCDS10908.1																																																																																				0.490	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		7	194	7	194	---	---	---	---
