#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
PASD1	139135	broad.mit.edu	37	X	150828276	150828276	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chrX:150828276C>G	ENST00000370357.4	+	10	1054	c.809C>G	c.(808-810)aCa>aGa	p.T270R		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	270						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTCCAGTACAGTTTTCCTG	0.403																																						ENST00000370357.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(808-810)aCa>aGa		PAS domain containing 1							203.0	167.0	179.0					X																	150828276		2203	4300	6503	SO:0001583	missense	139135					nucleus	signal transducer activity	g.chrX:150828276C>G	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.809C>G	X.37:g.150828276C>G	ENSP00000359382:p.Thr270Arg						p.T270R	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			10	1054	+	Acute lymphoblastic leukemia(192;6.56e-05)		270					Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	c.809C>G	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.333564	0.24167	.	.	ENSG00000166049	ENST00000370357	T	0.68181	-0.31	3.61	-7.22	0.01485	.	.	.	.	.	T	0.44201	0.1282	L	0.27053	0.805	0.09310	N	1	P	0.49090	0.919	B	0.42827	0.399	T	0.44345	-0.9334	9	0.66056	D	0.02	.	1.4296	0.02331	0.1309:0.4306:0.2607:0.1778	.	270	Q8IV76	PASD1_HUMAN	R	270	ENSP00000359382:T270R	ENSP00000359382:T270R	T	+	2	0	PASD1	150578932	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.358000	0.02604	-1.710000	0.01397	0.600000	0.82982	ACA		0.403	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		4	37	0	0	0	1	0	4	37				
CPAMD8	27151	broad.mit.edu	37	19	17015110	17015110	+	Missense_Mutation	SNP	C	C	T	rs372432362		TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr19:17015110C>T	ENST00000443236.1	-	32	4349	c.4318G>A	c.(4318-4320)Gtg>Atg	p.V1440M		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1393						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GCGGCAGCCACGTCACCCAGC	0.632																																						ENST00000443236.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(4318-4320)Gtg>Atg		C3 and PZP-like, alpha-2-macroglobulin domain containing 8		C	MET/VAL	0,4136		0,0,2068	48.0	53.0	52.0		4318	3.0	0.2	19		52	1,8427		0,1,4213	no	missense	CPAMD8	NM_015692.2	21	0,1,6281	TT,TC,CC		0.0119,0.0,0.0080	possibly-damaging	1440/1933	17015110	1,12563	2068	4214	6282	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17015110C>T	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.4318G>A	19.37:g.17015110C>T	ENSP00000402505:p.Val1440Met						p.V1440M	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			32	4349	-			1393					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.4318G>A	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.119799	0.56613	0.0	1.19E-4	ENSG00000160111	ENST00000291440	.	.	.	3.02	3.02	0.34903	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.000000	0.64402	U	0.000006	T	0.55353	0.1915	L	0.48218	1.51	0.80722	D	1	P	0.46578	0.88	P	0.45794	0.493	T	0.62153	-0.6914	9	0.62326	D	0.03	.	14.0366	0.64649	0.0:1.0:0.0:0.0	.	1393	Q8IZJ3	CPMD8_HUMAN	M	1440	.	ENSP00000291440:V1440M	V	-	1	0	CPAMD8	16876110	0.999000	0.42202	0.191000	0.23289	0.394000	0.30568	4.541000	0.60670	1.255000	0.44051	0.456000	0.33151	GTG		0.632	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		6	45	0	0	0	1	0	6	45				
KRTAP4-11	653240	broad.mit.edu	37	17	39274416	39274416	+	Missense_Mutation	SNP	C	C	T	rs408579	byFrequency	TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr17:39274416C>T	ENST00000391413.2	-	1	190	c.152G>A	c.(151-153)aGg>aAg	p.R51K		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.R51K(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCACTGGGGCCTGCAGCAGCT	0.672													t|||	242	0.0483227	0.1248	0.0202	5008	,	,		19066	0.005		0.0219	False		,,,				2504	0.0368					ENST00000391413.2																			1	Substitution - Missense(1)	p.R51K(1)	endometrium(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(151-153)aGg>aAg		keratin associated protein 4-11							9.0	15.0	13.0					17																	39274416		682	1579	2261	SO:0001583	missense	653240					keratin filament		g.chr17:39274416C>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.152G>A	17.37:g.39274416C>T	ENSP00000375232:p.Arg51Lys						p.R51K	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	190	-		Breast(137;0.000496)	51		Missing (in allele KAP4.14).	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.152G>A	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	4.205	0.036712	0.08148	.	.	ENSG00000212721	ENST00000391413	T	0.01455	4.87	3.47	-1.13	0.09775	.	2.855670	0.02563	U	0.096976	T	0.02610	0.0079	M	0.72118	2.19	0.09310	N	1	B	0.25441	0.126	B	0.28916	0.096	T	0.52283	-0.8596	10	0.05959	T	0.93	.	3.7627	0.08610	0.1684:0.4051:0.0:0.4265	rs408579	51	Q9BYQ6	KR411_HUMAN	K	51	ENSP00000375232:R51K	ENSP00000375232:R51K	R	-	2	0	KRTAP4-11	36527942	0.000000	0.05858	0.002000	0.10522	0.072000	0.16883	-0.738000	0.04871	-0.091000	0.12440	-0.208000	0.12717	AGG		0.672	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			4	92	0	0	0	1	0	4	92				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29628245G>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.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	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		4	142	0	0	0	1	0	4	142				
SPARCL1	8404	broad.mit.edu	37	4	88403694	88403694	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr4:88403694T>C	ENST00000282470.6	-	8	2020	c.1550A>G	c.(1549-1551)gAc>gGc	p.D517G	SPARCL1_ENST00000418378.1_Missense_Mutation_p.D517G|SPARCL1_ENST00000503414.1_Missense_Mutation_p.D392G	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	517					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		CACTTCAAAGTCCGTACAAGT	0.408																																						ENST00000418378.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21						c.(1549-1551)gAc>gGc		SPARC-like 1 (hevin)							91.0	85.0	87.0					4																	88403694		2203	4300	6503	SO:0001583	missense	8404				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	g.chr4:88403694T>C	X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"""EF-hand domain containing"""	11220	protein-coding gene	gene with protein product		606041	"""SPARC-like 1 (mast9, hevin)"""			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.1550A>G	4.37:g.88403694T>C	ENSP00000282470:p.Asp517Gly					SPARCL1_ENST00000282470.6_Missense_Mutation_p.D517G|SPARCL1_ENST00000503414.1_Missense_Mutation_p.D392G	p.D517G	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00118)	9	2121	-			517					B4E2Z0|E7ESU2|Q14800	Missense_Mutation	SNP	ENST00000282470.6	37	c.1550A>G	CCDS3622.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.253597	0.80135	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	T;T;T	0.26067	2.34;2.34;1.76	5.51	5.51	0.81932	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.149257	0.64402	D	0.000013	T	0.48624	0.1510	M	0.62266	1.93	0.58432	D	0.999996	D	0.89917	1.0	D	0.80764	0.994	T	0.47774	-0.9091	10	0.62326	D	0.03	-25.2107	15.1055	0.72319	0.0:0.0:0.0:1.0	.	517	Q14515	SPRL1_HUMAN	G	517;517;392;392	ENSP00000282470:D517G;ENSP00000414856:D517G;ENSP00000422903:D392G	ENSP00000282470:D517G	D	-	2	0	SPARCL1	88622718	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.617000	0.83032	2.225000	0.72522	0.533000	0.62120	GAC		0.408	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2			7	38	0	0	0	1	0	7	38				
UBTF	7343	broad.mit.edu	37	17	42293035	42293035	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr17:42293035G>A	ENST00000302904.4	-	5	953	c.461C>T	c.(460-462)cCg>cTg	p.P154L	UBTF_ENST00000436088.1_Missense_Mutation_p.P154L|UBTF_ENST00000526094.1_Missense_Mutation_p.P154L|UBTF_ENST00000533177.1_Missense_Mutation_p.P154L|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000529383.1_Missense_Mutation_p.P154L|UBTF_ENST00000343638.5_Missense_Mutation_p.P154L|UBTF_ENST00000393606.3_Missense_Mutation_p.P154L|UBTF_ENST00000527034.1_Missense_Mutation_p.P154L|CTB-175E5.7_ENST00000586560.1_RNA			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	154					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CTTCTTCTCCGGAAGCTCCTT	0.557																																						ENST00000302904.4																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(460-462)cCg>cTg		upstream binding transcription factor, RNA polymerase I							103.0	107.0	106.0					17																	42293035		2203	4300	6503	SO:0001583	missense	7343				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	g.chr17:42293035G>A	BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.461C>T	17.37:g.42293035G>A	ENSP00000302640:p.Pro154Leu					UBTF_ENST00000343638.5_Missense_Mutation_p.P154L|UBTF_ENST00000529383.1_Missense_Mutation_p.P154L|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000393606.3_Missense_Mutation_p.P154L|UBTF_ENST00000533177.1_Missense_Mutation_p.P154L|UBTF_ENST00000527034.1_Missense_Mutation_p.P154L|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000526094.1_Missense_Mutation_p.P154L|UBTF_ENST00000436088.1_Missense_Mutation_p.P154L	p.P154L			P17480	UBF1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	5	953	-		Breast(137;0.00765)|Prostate(33;0.0181)	154					A8K6R8	Missense_Mutation	SNP	ENST00000302904.4	37	c.461C>T	CCDS11480.1	.	.	.	.	.	.	.	.	.	.	g	26.3	4.722032	0.89298	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383;ENST00000530828	D;D;D;D;D;D;D;D;D	0.98090	-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71	4.27	4.27	0.50696	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.98960	0.9646	M	0.92691	3.335	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.982;1.0	D	0.99402	1.0928	10	0.54805	T	0.06	-17.7319	16.6665	0.85254	0.0:0.0:1.0:0.0	.	154;154;154	E9PKP7;P17480-2;P17480	.;.;UBF1_HUMAN	L	154;154;154;154;154;154;154;154;126	ENSP00000345297:P154L;ENSP00000302640:P154L;ENSP00000431539:P154L;ENSP00000437180:P154L;ENSP00000390669:P154L;ENSP00000377231:P154L;ENSP00000432925:P154L;ENSP00000435708:P154L;ENSP00000433046:P126L	ENSP00000302640:P154L	P	-	2	0	UBTF	39648561	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	9.730000	0.98797	2.082000	0.62665	0.467000	0.42956	CCG		0.557	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233		14	136	0	0	0	1	0	14	136				
ZNF480	147657	broad.mit.edu	37	19	52825756	52825756	+	Missense_Mutation	SNP	G	G	A	rs368398384		TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr19:52825756G>A	ENST00000595962.1	+	5	1319	c.1253G>A	c.(1252-1254)cGa>cAa	p.R418Q	ZNF480_ENST00000335090.6_Missense_Mutation_p.R341Q|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Missense_Mutation_p.R375Q	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	418					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		GCACGACATCGAAGAATTCAT	0.373																																						ENST00000595962.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(1252-1254)cGa>cAa		zinc finger protein 480		G	GLN/ARG	0,4406		0,0,2203	89.0	94.0	92.0		1253	-2.3	0.0	19		92	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF480	NM_144684.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	418/536	52825756	1,13005	2203	4300	6503	SO:0001583	missense	147657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:52825756G>A	AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"""Zinc fingers, C2H2-type"", ""-"""	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.1253G>A	19.37:g.52825756G>A	ENSP00000471754:p.Arg418Gln					ZNF480_ENST00000334564.7_Missense_Mutation_p.R375Q|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000335090.6_Missense_Mutation_p.R341Q	p.R418Q	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN		GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)	5	1319	+			418					Q5JPG9|Q6P0Q4|Q8N1M5	Missense_Mutation	SNP	ENST00000595962.1	37	c.1253G>A	CCDS12850.2	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.643369	0.00792	0.0	1.16E-4	ENSG00000198464	ENST00000468240;ENST00000334564;ENST00000335090	T;T;T	0.36878	1.23;1.23;1.23	2.21	-2.35	0.06684	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11153	0.0272	N	0.10664	0.02	0.09310	N	1	B;B	0.27791	0.189;0.142	B;B	0.18871	0.014;0.023	T	0.25222	-1.0138	9	0.02654	T	1	.	2.9642	0.05902	0.554:0.0:0.2616:0.1844	.	375;418	F8WEZ9;Q8WV37	.;ZN480_HUMAN	Q	418;375;341	ENSP00000417424:R418Q;ENSP00000334164:R375Q;ENSP00000335670:R341Q	ENSP00000334164:R375Q	R	+	2	0	ZNF480	57517568	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.388000	0.07352	-0.868000	0.04058	-0.384000	0.06662	CGA		0.373	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	NM_144684		13	89	0	0	0	1	0	13	89				
CPPED1	55313	broad.mit.edu	37	16	12875121	12875121	+	Silent	SNP	T	T	C			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr16:12875121T>C	ENST00000381774.4	-	2	450	c.210A>G	c.(208-210)caA>caG	p.Q70Q	CPPED1_ENST00000433677.2_Silent_p.Q70Q|CPPED1_ENST00000261660.4_Silent_p.Q70Q	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	70	Catalytic.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						CCTGGACGGCTTGCTCAGTTA	0.572																																						ENST00000381774.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						c.(208-210)caA>caG		calcineurin-like phosphoesterase domain containing 1							125.0	131.0	129.0					16																	12875121		2084	4209	6293	SO:0001819	synonymous_variant	55313						hydrolase activity|metal ion binding	g.chr16:12875121T>C	AK022710	CCDS42119.1, CCDS42120.1	16p13.12	2014-02-12	2009-03-13		ENSG00000103381	ENSG00000103381			25632	protein-coding gene	gene with protein product	"""complete S transactivated protein 1"""	615603				12477932	Standard	NM_018340		Approved	CSTP1, FLJ11151	uc002dca.4	Q9BRF8	OTTHUMG00000167711	ENST00000381774.4:c.210A>G	16.37:g.12875121T>C						CPPED1_ENST00000433677.2_Silent_p.Q70Q|CPPED1_ENST00000261660.4_Silent_p.Q70Q	p.Q70Q	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN			2	450	-			70					B4DQ68|Q6MZY9|Q9H9M9|Q9NUT6	Silent	SNP	ENST00000381774.4	37	c.210A>G	CCDS42120.1																																																																																				0.572	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395795.2	NM_018340		4	38	0	0	0	1	0	4	38				
FAM47C	442444	broad.mit.edu	37	X	37027375	37027375	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chrX:37027375C>T	ENST00000358047.3	+	1	944	c.892C>T	c.(892-894)Cct>Tct	p.P298S		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	298										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCATCGGGAGCCTCCTGAGAC	0.592																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(892-894)Cct>Tct		family with sequence similarity 47, member C							79.0	68.0	72.0					X																	37027375		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37027375C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.892C>T	X.37:g.37027375C>T	ENSP00000367913:p.Pro298Ser						p.P298S	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	944	+			298					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.892C>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	c	11.37	1.618825	0.28801	.	.	ENSG00000198173	ENST00000358047	T	0.22134	1.97	0.932	-0.305	0.12784	.	.	.	.	.	T	0.28962	0.0719	L	0.42686	1.345	0.09310	N	1	D	0.60575	0.988	D	0.75484	0.986	T	0.16867	-1.0388	9	0.31617	T	0.26	.	3.4162	0.07376	0.0:0.3509:0.0:0.6491	.	298	Q5HY64	FA47C_HUMAN	S	298	ENSP00000367913:P298S	ENSP00000367913:P298S	P	+	1	0	FAM47C	36937296	0.000000	0.05858	0.009000	0.14445	0.009000	0.06853	0.069000	0.14552	0.171000	0.19730	0.173000	0.16961	CCT		0.592	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		15	57	0	0	0	1	0	15	57				
NR2F2	7026	broad.mit.edu	37	15	96875647	96875647	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr15:96875647C>G	ENST00000394166.3	+	1	1702	c.313C>G	c.(313-315)Cgc>Ggc	p.R105G	MIR1469_ENST00000410719.1_RNA|NR2F2_ENST00000453270.2_5'Flank|NR2F2_ENST00000421109.2_Intron|NR2F2_ENST00000394171.2_5'Flank	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	105					anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			CTTCTTCAAGCGCAGCGTGCG	0.612																																						ENST00000394166.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17						c.(313-315)Cgc>Ggc		nuclear receptor subfamily 2, group F, member 2							71.0	57.0	62.0					15																	96875647		2197	4298	6495	SO:0001583	missense	7026				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr15:96875647C>G	M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"""Nuclear hormone receptors"""	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.313C>G	15.37:g.96875647C>G	ENSP00000377721:p.Arg105Gly					NR2F2_ENST00000421109.2_Intron	p.R105G	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0856)		1	1702	+	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		105					B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Missense_Mutation	SNP	ENST00000394166.3	37	c.313C>G	CCDS10375.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863411	0.71949	.	.	ENSG00000185551	ENST00000394166	D	0.98987	-5.3	4.61	3.6	0.41247	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.226336	0.32703	N	0.005747	D	0.99677	0.9879	H	0.99946	5.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96693	0.9512	10	0.87932	D	0	.	13.1377	0.59419	0.1947:0.8052:0.0:0.0	.	105	P24468	COT2_HUMAN	G	105	ENSP00000377721:R105G	ENSP00000377721:R105G	R	+	1	0	NR2F2	94676651	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.502000	0.45398	2.097000	0.63578	0.462000	0.41574	CGC		0.612	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1			3	31	0	0	0	1	0	3	31				
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257		TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y	ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	629							ion channel inhibitor activity (GO:0008200)	p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D629Y(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1885-1887)Gat>Tat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593016C>A	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1885G>T	2.37:g.96593016C>A	ENSP00000403302:p.Asp629Tyr						p.D629Y							28	1969	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1885G>T		.	.	.	.	.	.	.	.	.	.	c	9.675	1.147829	0.21288	.	.	ENSG00000174501	ENST00000456556	T	0.77489	-1.1	0.578	0.578	0.17391	.	.	.	.	.	T	0.79540	0.4463	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.70428	-0.4874	6	0.72032	D	0.01	.	.	.	.	.	.	.	.	Y	629	ENSP00000403302:D629Y	ENSP00000403302:D629Y	D	-	1	0	AC073995.2	95956743	0.004000	0.15560	0.041000	0.18516	0.061000	0.15899	0.559000	0.23485	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		5	58	1	0	0.014758	1	0.014758	5	58				
SELPLG	6404	broad.mit.edu	37	12	109017473	109017473	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr12:109017473G>A	ENST00000550948.1	-	2	835	c.611C>T	c.(610-612)aCt>aTt	p.T204I	SELPLG_ENST00000388962.3_Missense_Mutation_p.T194I|SELPLG_ENST00000228463.6_Missense_Mutation_p.T220I			Q14242	SELPL_HUMAN	selectin P ligand	204	12 X 10 AA tandem repeats.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interleukin-6 (GO:0071354)|leukocyte adhesive activation (GO:0050902)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						TGCTGGTGCAGTGGTCTGTGC	0.612																																						ENST00000388962.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						c.(580-582)aCt>aTt		selectin P ligand							160.0	145.0	150.0					12																	109017473		2203	4300	6503	SO:0001583	missense	0				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding	g.chr12:109017473G>A		CCDS31895.1, CCDS31895.2, CCDS55881.1	12q24	2014-01-30						"""CD molecules"", ""Endogenous ligands"""	10722	protein-coding gene	gene with protein product		600738				7505206	Standard	NM_003006		Approved	PSGL-1, CD162	uc010sxe.2	Q14242		ENST00000550948.1:c.611C>T	12.37:g.109017473G>A	ENSP00000447752:p.Thr204Ile					SELPLG_ENST00000228463.6_Missense_Mutation_p.T220I|SELPLG_ENST00000550948.1_Missense_Mutation_p.T204I	p.T194I	NM_003006.4	NP_002997.2	Q14242	SELPL_HUMAN			3	740	-			204			12 X 10 AA tandem repeats.		A8K2Y0|B4DQC3|B7Z5C7|J3KMX6|Q12775|Q6GTW7|Q8N7J7	Missense_Mutation	SNP	ENST00000550948.1	37	c.581C>T	CCDS31895.2	.	.	.	.	.	.	.	.	.	.	G	10.49	1.365891	0.24684	.	.	ENSG00000110876	ENST00000388962;ENST00000550948;ENST00000228463	T;T;T	0.32988	1.43;1.43;1.43	3.11	1.25	0.21368	.	0.809196	0.10424	N	0.676276	T	0.29061	0.0722	L	0.60455	1.87	0.09310	N	1	P;P;P	0.37207	0.587;0.587;0.587	B;B;B	0.40066	0.221;0.318;0.221	T	0.27400	-1.0075	10	0.54805	T	0.06	-3.0873	3.4603	0.07531	0.2323:0.0:0.4186:0.349	.	220;204;164	B7Z5C7;Q14242;B4DHR9	.;SELPL_HUMAN;.	I	194;204;220	ENSP00000373614:T194I;ENSP00000447752:T204I;ENSP00000228463:T220I	ENSP00000228463:T220I	T	-	2	0	SELPLG	107541602	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.203000	0.17315	0.337000	0.23665	0.491000	0.48974	ACT		0.612	SELPLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403904.1			11	42	0	0	0	1	0	11	42				
PLPPR4	9890	broad.mit.edu	37	1	99772408	99772408	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr1:99772408G>A	ENST00000370185.3	+	7	2631	c.2134G>A	c.(2134-2136)Gaa>Aaa	p.E712K	LPPR4_ENST00000457765.1_Missense_Mutation_p.E654K|LPPR4_ENST00000370184.1_Missense_Mutation_p.E554K	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		712					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AGAGGGCAGCGAAATTGGCTC	0.522																																						ENST00000370185.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.(2134-2136)Gaa>Aaa									66.0	59.0	62.0					1																	99772408		2203	4300	6503	SO:0001583	missense	0						phosphatidate phosphatase activity	g.chr1:99772408G>A																												ENST00000370185.3:c.2134G>A	1.37:g.99772408G>A	ENSP00000359204:p.Glu712Lys					LPPR4_ENST00000370184.1_Missense_Mutation_p.E554K|LPPR4_ENST00000457765.1_Missense_Mutation_p.E654K	p.E712K	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	2631	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	712					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.2134G>A	CCDS757.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169147	0.57584	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000370184	T;T;T	0.25085	2.39;2.39;1.82	6.02	6.02	0.97574	.	0.168251	0.52532	D	0.000074	T	0.31918	0.0812	L	0.44542	1.39	0.53688	D	0.999976	D;D	0.69078	0.997;0.993	P;B	0.58454	0.839;0.365	T	0.00300	-1.1835	9	.	.	.	-28.3061	20.5407	0.99260	0.0:0.0:1.0:0.0	.	654;712	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	K	712;654;554	ENSP00000359204:E712K;ENSP00000394913:E654K;ENSP00000359203:E554K	.	E	+	1	0	RP4-788L13.1	99544996	1.000000	0.71417	0.908000	0.35775	0.991000	0.79684	9.438000	0.97539	2.865000	0.98341	0.655000	0.94253	GAA		0.522	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			4	37	0	0	0	1	0	4	37				
KSR2	283455	broad.mit.edu	37	12	117977596	117977596	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr12:117977596T>G	ENST00000339824.5	-	10	2342	c.1615A>C	c.(1615-1617)Agt>Cgt	p.S539R	KSR2_ENST00000302438.5_Missense_Mutation_p.S236R|KSR2_ENST00000425217.1_Missense_Mutation_p.S510R|KSR2_ENST00000545002.1_5'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	539	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCGTGGCACTAGGAGGGAGG	0.642																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1528-1530)Agt>Cgt		kinase suppressor of ras 2							71.0	83.0	79.0					12																	117977596		2121	4220	6341	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117977596T>G	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1615A>C	12.37:g.117977596T>G	ENSP00000339952:p.Ser539Arg					KSR2_ENST00000302438.5_Missense_Mutation_p.S236R|KSR2_ENST00000339824.5_Missense_Mutation_p.S539R|KSR2_ENST00000545002.1_5'UTR	p.S510R	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			10	1582	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		539			Pro-rich.		A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.1528A>C		.	.	.	.	.	.	.	.	.	.	T	23.8	4.455411	0.84209	.	.	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	T;T;D	0.87491	-1.24;-1.26;-2.26	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.91195	0.7226	L	0.49778	1.585	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91602	0.5296	10	0.54805	T	0.06	.	14.9375	0.70967	0.0:0.0:0.0:1.0	.	539	Q6VAB6	KSR2_HUMAN	R	510;539;236;211	ENSP00000389715:S510R;ENSP00000339952:S539R;ENSP00000305466:S236R	ENSP00000305466:S236R	S	-	1	0	KSR2	116461979	1.000000	0.71417	0.998000	0.56505	0.696000	0.40369	7.767000	0.85331	2.103000	0.63969	0.533000	0.62120	AGT		0.642	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		8	65	0	0	0	1	0	8	65				
NEK1	4750	broad.mit.edu	37	4	170482702	170482702	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr4:170482702C>A	ENST00000439128.2	-	15	1835	c.1195G>T	c.(1195-1197)Gaa>Taa	p.E399*	NEK1_ENST00000511633.1_Nonsense_Mutation_p.E399*|NEK1_ENST00000507142.1_Nonsense_Mutation_p.E399*|NEK1_ENST00000510533.1_Nonsense_Mutation_p.E399*|NEK1_ENST00000512193.1_Intron	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	399					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TTTATTCTTTCCAACTTTGGG	0.333																																						ENST00000439128.2																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45						c.(1195-1197)Gaa>Taa		NIMA-related kinase 1							118.0	109.0	112.0					4																	170482702		1852	4087	5939	SO:0001587	stop_gained	4750				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:170482702C>A	AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.1195G>T	4.37:g.170482702C>A	ENSP00000408020:p.Glu399*					NEK1_ENST00000507142.1_Nonsense_Mutation_p.E399*|NEK1_ENST00000512193.1_Intron|NEK1_ENST00000510533.1_Nonsense_Mutation_p.E399*|NEK1_ENST00000511633.1_Nonsense_Mutation_p.E399*	p.E399*	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)	15	1835	-		Prostate(90;0.00601)|Renal(120;0.0183)	399					G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Nonsense_Mutation	SNP	ENST00000439128.2	37	c.1195G>T	CCDS47162.1	.	.	.	.	.	.	.	.	.	.	C	41	9.046407	0.99048	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142	.	.	.	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	19.1923	0.93672	0.0:1.0:0.0:0.0	.	.	.	.	X	399	.	ENSP00000408020:E399X	E	-	1	0	NEK1	170719277	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	3.444000	0.52914	2.537000	0.85549	0.557000	0.71058	GAA		0.333	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			6	43	1	0	0.00198382	1	0.00209403	6	43				
RAF1	5894	broad.mit.edu	37	3	12632413	12632413	+	Silent	SNP	T	T	G			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr3:12632413T>G	ENST00000251849.4	-	12	1693	c.1254A>C	c.(1252-1254)gcA>gcC	p.A418A	RAF1_ENST00000442415.2_Silent_p.A438A|RAF1_ENST00000542177.1_Silent_p.A337A|RAF1_ENST00000534997.1_Silent_p.A203A	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	418	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	GGGTCACAATTGCCAGGTTGT	0.532			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																													ENST00000251849.4				Dom	yes		3	3p25	5894	T	v-raf-1 murine leukemia viral oncogene homolog 1			M	SRGAP3		pilocytic astrocytoma	ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32						c.(1252-1254)gcA>gcC		v-raf-1 murine leukemia viral oncogene homolog 1	Sorafenib(DB00398)						141.0	130.0	134.0					3																	12632413		2203	4300	6503	SO:0001819	synonymous_variant	5894	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr3:12632413T>G	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"""C-Raf proto-oncogene, serine/threonine kinase"""	164760	"""v-raf-1 murine leukemia viral oncogene homolog 1"""			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.1254A>C	3.37:g.12632413T>G						RAF1_ENST00000534997.1_Silent_p.A203A|RAF1_ENST00000442415.2_Silent_p.A438A|RAF1_ENST00000542177.1_Silent_p.A337A	p.A418A	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN			12	1693	-			418			Protein kinase.		B0LPH8|B2R5N3|Q15278|Q9UC20	Silent	SNP	ENST00000251849.4	37	c.1254A>C	CCDS2612.1																																																																																				0.532	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252015.2	NM_002880		11	99	0	0	0	1	0	11	99				
PDZRN3	23024	broad.mit.edu	37	3	73450103	73450103	+	Silent	SNP	C	C	T			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr3:73450103C>T	ENST00000263666.4	-	5	1338	c.1224G>A	c.(1222-1224)caG>caA	p.Q408Q	PDZRN3_ENST00000479530.1_Silent_p.Q125Q|PDZRN3_ENST00000462146.2_Silent_p.Q65Q|PDZRN3_ENST00000466780.1_Silent_p.Q65Q|PDZRN3_ENST00000535920.1_Silent_p.Q130Q|PDZRN3_ENST00000466348.1_5'UTR	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	408					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TGTCCATCTCCTGATGGATGT	0.438																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1222-1224)caG>caA		PDZ domain containing ring finger 3							181.0	177.0	178.0					3																	73450103		2203	4300	6503	SO:0001819	synonymous_variant	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73450103C>T	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1224G>A	3.37:g.73450103C>T						PDZRN3_ENST00000535920.1_Silent_p.Q130Q|PDZRN3_ENST00000479530.1_Silent_p.Q125Q|PDZRN3_ENST00000466780.1_Silent_p.Q65Q|PDZRN3_ENST00000462146.2_Silent_p.Q65Q|PDZRN3_ENST00000466348.1_5'UTR	p.Q408Q	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	5	1338	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	408					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	37	c.1224G>A	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	C	9.604	1.129512	0.21041	.	.	ENSG00000121440	ENST00000494559	.	.	.	5.38	4.5	0.54988	.	.	.	.	.	T	0.48857	0.1523	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47142	-0.9140	4	.	.	.	.	4.4649	0.11684	0.0:0.6179:0.2099:0.1722	.	.	.	.	K	5	.	.	R	-	2	0	PDZRN3	73532793	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.472000	0.35376	2.520000	0.84964	0.555000	0.69702	AGG		0.438	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		14	98	0	0	0	1	0	14	98				
CDK12	51755	broad.mit.edu	37	17	37667841	37667841	+	Missense_Mutation	SNP	G	G	A	rs538308945		TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr17:37667841G>A	ENST00000447079.4	+	8	2759	c.2726G>A	c.(2725-2727)gGa>gAa	p.G909E	CDK12_ENST00000430627.2_Missense_Mutation_p.G909E	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	909	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CTACTGCTAGGAGAGGAACGT	0.398			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		17739	0.0		0.0	False		,,,				2504	0.0					ENST00000447079.4				Rec	yes		17	17q12	51755	"""Mis, N, F"""	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(2725-2727)gGa>gAa		cyclin-dependent kinase 12							119.0	113.0	115.0					17																	37667841		2203	4300	6503	SO:0001583	missense	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37667841G>A	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2726G>A	17.37:g.37667841G>A	ENSP00000398880:p.Gly909Glu	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Missense_Mutation_p.G909E	p.G909E	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			8	2759	+			909			Protein kinase.		A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.2726G>A	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024168	0.75390	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.52295	0.67;0.67	5.22	5.22	0.72569	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	0.46145	D	0.000306	T	0.71358	0.3330	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.75007	-0.3469	10	0.87932	D	0	-10.2641	19.1453	0.93463	0.0:0.0:1.0:0.0	.	908;909;909	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	E	909	ENSP00000407720:G909E;ENSP00000398880:G909E	ENSP00000407720:G909E	G	+	2	0	CDK12	34921367	1.000000	0.71417	0.999000	0.59377	0.746000	0.42486	9.686000	0.98664	2.597000	0.87782	0.555000	0.69702	GGA		0.398	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		8	54	0	0	0	1	0	8	54				
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158|rs71318762	byFrequency	TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1				BMS1 pseudogene 20																		GCTGCCACATAAGTTGTCCTT	0.303													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		8984	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			0							g.chr22:22663087A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663087A>G								NR_027293.1						0	526	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.303	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	21	0	0	0	1	0	3	21				
GPLD1	2822	broad.mit.edu	37	6	24446015	24446015	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr6:24446015C>T	ENST00000230036.1	-	19	1975	c.1865G>A	c.(1864-1866)gGg>gAg	p.G622E		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	622					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						ATACACCCTCCCAAGGCTCTT	0.537																																						ENST00000230036.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						c.(1864-1866)gGg>gAg		glycosylphosphatidylinositol specific phospholipase D1							139.0	137.0	138.0					6																	24446015		2203	4300	6503	SO:0001583	missense	2822					extracellular region	glycosylphosphatidylinositol phospholipase D activity	g.chr6:24446015C>T	L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.1865G>A	6.37:g.24446015C>T	ENSP00000230036:p.Gly622Glu						p.G622E	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN			19	1975	-			622					Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	ENST00000230036.1	37	c.1865G>A	CCDS4553.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.235838	0.79800	.	.	ENSG00000112293	ENST00000230036	T	0.78481	-1.18	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000002	D	0.88194	0.6371	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87133	0.2198	10	0.38643	T	0.18	-19.0184	18.9919	0.92796	0.0:1.0:0.0:0.0	.	622	P80108	PHLD_HUMAN	E	622	ENSP00000230036:G622E	ENSP00000230036:G622E	G	-	2	0	GPLD1	24553994	0.999000	0.42202	0.171000	0.22900	0.910000	0.53928	5.212000	0.65225	2.565000	0.86533	0.655000	0.94253	GGG		0.537	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503		8	103	0	0	0	1	0	8	103				
OR8S1	341568	broad.mit.edu	37	12	48920026	48920026	+	Silent	SNP	C	C	T			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr12:48920026C>T	ENST00000310194.1	+	1	612	c.612C>T	c.(610-612)ctC>ctT	p.L204L	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						GCTCCACTCTCCTACATGGGC	0.507																																						ENST00000310194.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						c.(610-612)ctC>ctT		olfactory receptor, family 8, subfamily S, member 1							185.0	148.0	161.0					12																	48920026		2203	4300	6503	SO:0001819	synonymous_variant	341568				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:48920026C>T		CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"""GPCR / Class A : Olfactory receptors"""	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.612C>T	12.37:g.48920026C>T						OR8S1_ENST00000551654.1_Intron	p.L204L	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN			1	612	+			204						Silent	SNP	ENST00000310194.1	37	c.612C>T	CCDS31789.1																																																																																				0.507	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406881.1			8	67	0	0	0	1	0	8	67				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>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.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	141	0	0	0	1	0	4	141				
LCMT2	9836	broad.mit.edu	37	15	43621413	43621413	+	Silent	SNP	G	G	A			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr15:43621413G>A	ENST00000305641.5	-	1	1390	c.1275C>T	c.(1273-1275)ctC>ctT	p.L425L	LCMT2_ENST00000544735.1_Silent_p.L4L|ADAL_ENST00000389651.4_5'Flank|ADAL_ENST00000428046.3_5'Flank|ADAL_ENST00000422466.2_5'Flank|LCMT2_ENST00000567039.1_3'UTR	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	425					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	GACTCTCTGAGAGTCTTGTCA	0.488																																						ENST00000305641.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20						c.(1273-1275)ctC>ctT		leucine carboxyl methyltransferase 2	L-Leucine(DB00149)						90.0	97.0	94.0					15																	43621413		2201	4299	6500	SO:0001819	synonymous_variant	9836				tRNA processing		methyltransferase activity|protein binding	g.chr15:43621413G>A	AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 4"""	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.1275C>T	15.37:g.43621413G>A						LCMT2_ENST00000544735.1_Silent_p.L4L|LCMT2_ENST00000567039.1_3'UTR	p.L425L	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN		GBM - Glioblastoma multiforme(94;8.1e-07)	1	1390	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	425					Q4JFT6|Q96B55|Q9NR10	Silent	SNP	ENST00000305641.5	37	c.1275C>T	CCDS10094.1																																																																																				0.488	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1	NM_014793		9	86	0	0	0	1	0	9	86				
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T	ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	634							ion channel inhibitor activity (GO:0008200)	p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.I634T(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1900-1902)aTa>aCa		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593000A>G	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1901T>C	2.37:g.96593000A>G	ENSP00000403302:p.Ile634Thr						p.I634T							28	1985	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1901T>C		.	.	.	.	.	.	.	.	.	.	a	7.838	0.721224	0.15372	.	.	ENSG00000174501	ENST00000456556	T	0.77229	-1.08	0.578	-1.16	0.09678	.	.	.	.	.	T	0.70718	0.3256	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.56153	-0.8026	6	0.08381	T	0.77	.	.	.	.	.	.	.	.	T	634	ENSP00000403302:I634T	ENSP00000403302:I634T	I	-	2	0	AC073995.2	95956727	0.016000	0.18221	0.004000	0.12327	0.101000	0.19017	0.588000	0.23924	-0.580000	0.05944	0.163000	0.16589	ATA		0.338	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		5	56	0	0	0	1	0	5	56				
OR4C13	283092	broad.mit.edu	37	11	49974801	49974801	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr11:49974801T>A	ENST00000555099.1	+	1	859	c.827T>A	c.(826-828)aTa>aAa	p.I276K		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TACACTATGATAACTTCTATG	0.358																																						ENST00000555099.1																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						c.(826-828)aTa>aAa		olfactory receptor, family 4, subfamily C, member 13							105.0	101.0	102.0					11																	49974801		2201	4296	6497	SO:0001583	missense	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974801T>A	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.827T>A	11.37:g.49974801T>A	ENSP00000452277:p.Ile276Lys						p.I276K	NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN			1	859	+			276					A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	ENST00000555099.1	37	c.827T>A	CCDS31495.1	.	.	.	.	.	.	.	.	.	.	.	11.96	1.794600	0.31777	.	.	ENSG00000258817	ENST00000555099	T	0.00216	8.53	2.77	2.77	0.32553	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000084	T	0.00552	0.0018	M	0.90369	3.11	0.22811	N	0.998705	P	0.48764	0.915	D	0.63283	0.913	T	0.13953	-1.0490	9	.	.	.	.	9.0083	0.36127	0.0:0.0:0.0:1.0	.	276	Q8NGP0	OR4CD_HUMAN	K	276	ENSP00000452277:I276K	.	I	+	2	0	OR4C13	49931377	0.219000	0.23619	0.833000	0.33012	0.079000	0.17450	3.455000	0.52993	1.274000	0.44362	0.156000	0.16432	ATA		0.358	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		8	69	0	0	0	1	0	8	69				
AK5	26289	broad.mit.edu	37	1	77763264	77763264	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr1:77763264G>C	ENST00000354567.2	+	4	699	c.436G>C	c.(436-438)Ggt>Cgt	p.G146R	AK5_ENST00000317704.4_3'UTR|AK5_ENST00000344720.5_Missense_Mutation_p.G120R	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	146	Adenylate kinase 1.				ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						AAGTGGAAAGGGTACTCAGAG	0.388																																						ENST00000344720.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						c.(358-360)Ggt>Cgt		adenylate kinase 5							142.0	141.0	141.0					1																	77763264		2203	4300	6503	SO:0001583	missense	26289				ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	g.chr1:77763264G>C	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.436G>C	1.37:g.77763264G>C	ENSP00000346577:p.Gly146Arg					AK5_ENST00000354567.2_Missense_Mutation_p.G146R|AK5_ENST00000317704.4_3'UTR	p.G120R	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN			4	1384	+			146					Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	ENST00000354567.2	37	c.358G>C	CCDS675.1	.	.	.	.	.	.	.	.	.	.	G	31	5.088815	0.94100	.	.	ENSG00000154027	ENST00000354567;ENST00000344720;ENST00000478407	D;D;T	0.90788	-2.73;-2.73;-1.18	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.96889	0.8984	H	0.94886	3.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97187	0.9855	10	0.87932	D	0	-23.6695	20.0774	0.97750	0.0:0.0:1.0:0.0	.	146;122	Q9Y6K8;Q8N291	KAD5_HUMAN;.	R	146;120;120	ENSP00000346577:G146R;ENSP00000341430:G120R;ENSP00000434409:G120R	ENSP00000341430:G120R	G	+	1	0	AK5	77535852	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.406000	0.97321	2.828000	0.97474	0.650000	0.86243	GGT		0.388	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858		17	101	0	0	0	1	0	17	101				
NOS1	4842	broad.mit.edu	37	12	117723067	117723067	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr12:117723067G>A	ENST00000338101.4	-	6	1365	c.1361C>T	c.(1360-1362)gCc>gTc	p.A454V	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Missense_Mutation_p.A454V			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)		TTTGTTGGTGGCATACTTGAC	0.552																																					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.(1360-1362)gCc>gTc		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						97.0	102.0	101.0					12																	117723067		2102	4255	6357	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.chr12:117723067G>A		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.1361C>T	12.37:g.117723067G>A	ENSP00000337459:p.Ala454Val					NOS1_ENST00000338101.4_Missense_Mutation_p.A454V|NOS1_ENST00000344089.3_3'UTR	p.A454V	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	7	2046	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		454						Missense_Mutation	SNP	ENST00000338101.4	37	c.1361C>T	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	G	32	5.182078	0.94885	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.57752	0.38;0.38	4.57	4.57	0.56435	Nitric oxide synthase, oxygenase domain (3);	0.000000	0.85682	D	0.000000	T	0.66197	0.2765	M	0.94021	3.485	0.80722	D	1	P	0.47910	0.902	B	0.41271	0.352	T	0.79848	-0.1630	10	0.87932	D	0	-39.9975	17.9077	0.88925	0.0:0.0:1.0:0.0	.	454	P29475	NOS1_HUMAN	V	454	ENSP00000320758:A454V;ENSP00000337459:A454V	ENSP00000320758:A454V	A	-	2	0	NOS1	116207450	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.539000	0.98076	2.541000	0.85698	0.655000	0.94253	GCC		0.552	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			3	32	0	0	0	1	0	3	32				
ADAMTS3	9508	broad.mit.edu	37	4	73205333	73205333	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr4:73205333G>A	ENST00000286657.4	-	5	775	c.739C>T	c.(739-741)Cgc>Tgc	p.R247C		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	247	Poly-Arg.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R247C(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGTCTGCGGCGTCTCATTGTT	0.483																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			1	Substitution - Missense(1)	p.R247C(1)	large_intestine(1)	NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(739-741)Cgc>Tgc		ADAM metallopeptidase with thrombospondin type 1 motif, 3							244.0	235.0	238.0					4																	73205333		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73205333G>A	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.739C>T	4.37:g.73205333G>A	ENSP00000286657:p.Arg247Cys						p.R247C	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		5	775	-			247			Poly-Arg.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.739C>T	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389077	0.42410	.	.	ENSG00000156140	ENST00000286657	T	0.63913	-0.07	5.31	5.31	0.75309	.	0.215894	0.35838	N	0.002943	T	0.71962	0.3402	M	0.66939	2.045	0.50039	D	0.999845	D	0.61080	0.989	P	0.51701	0.677	T	0.75465	-0.3308	10	0.72032	D	0.01	.	19.1722	0.93583	0.0:0.0:1.0:0.0	.	247	O15072	ATS3_HUMAN	C	247	ENSP00000286657:R247C	ENSP00000286657:R247C	R	-	1	0	ADAMTS3	73424197	0.691000	0.27709	0.337000	0.25536	0.022000	0.10575	4.078000	0.57606	2.763000	0.94921	0.563000	0.77884	CGC		0.483	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			24	197	0	0	0	1	0	24	197				
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823		TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N	ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	626							ion channel inhibitor activity (GO:0008200)	p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D626N(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1876-1878)Gat>Aat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593025C>T	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1876G>A	2.37:g.96593025C>T	ENSP00000403302:p.Asp626Asn						p.D626N							28	1960	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1876G>A		.	.	.	.	.	.	.	.	.	.	c	12.80	2.046325	0.36085	.	.	ENSG00000174501	ENST00000456556	T	0.77098	-1.07	0.578	0.578	0.17391	.	.	.	.	.	T	0.80454	0.4626	M	0.70275	2.135	0.80722	P	0.0	.	.	.	.	.	.	T	0.82748	-0.0304	5	0.51188	T	0.08	.	.	.	.	.	.	.	.	N	626	ENSP00000403302:D626N	ENSP00000403302:D626N	D	-	1	0	AC073995.2	95956752	0.005000	0.15991	0.002000	0.10522	0.010000	0.07245	1.620000	0.36976	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		5	57	0	0	0	1	0	5	57				
CDK12	51755	broad.mit.edu	37	17	37618973	37618973	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr17:37618973A>T	ENST00000447079.4	+	1	682	c.649A>T	c.(649-651)Aaa>Taa	p.K217*	CDK12_ENST00000430627.2_Nonsense_Mutation_p.K217*	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	217					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GGACAGCCCAAAACGGAGATC	0.502			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"""Mis, N, F"""	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(649-651)Aaa>Taa		cyclin-dependent kinase 12							75.0	85.0	81.0					17																	37618973		2203	4300	6503	SO:0001587	stop_gained	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37618973A>T	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.649A>T	17.37:g.37618973A>T	ENSP00000398880:p.Lys217*	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Nonsense_Mutation_p.K217*	p.K217*	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			1	682	+			217					A7E2B2|B4DYX4|B9EIQ6|O94978	Nonsense_Mutation	SNP	ENST00000447079.4	37	c.649A>T	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.339460	0.81911	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	.	.	.	5.07	3.91	0.45181	.	0.000000	0.46442	D	0.000290	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8233	11.5313	0.50612	0.8503:0.1497:0.0:0.0	.	.	.	.	X	217	.	ENSP00000407720:K217X	K	+	1	0	CDK12	34872499	0.986000	0.35501	0.879000	0.34478	0.652000	0.38707	3.010000	0.49559	1.907000	0.55213	0.379000	0.24179	AAA		0.502	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		11	98	0	0	0	1	0	11	98				
FAM47C	442444	broad.mit.edu	37	X	37027275	37027275	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chrX:37027275G>T	ENST00000358047.3	+	1	844	c.792G>T	c.(790-792)gaG>gaT	p.E264D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	264										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGCCTCCCGAGACTGGAGTGT	0.612																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(790-792)gaG>gaT		family with sequence similarity 47, member C							57.0	53.0	54.0					X																	37027275		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37027275G>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.792G>T	X.37:g.37027275G>T	ENSP00000367913:p.Glu264Asp						p.E264D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	844	+			264					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.792G>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	G	8.861	0.946885	0.18356	.	.	ENSG00000198173	ENST00000358047	T	0.13901	2.55	0.977	0.977	0.19733	.	.	.	.	.	T	0.07818	0.0196	L	0.43152	1.355	0.09310	N	1	P	0.34934	0.476	B	0.25140	0.058	T	0.33445	-0.9868	9	0.13470	T	0.59	.	3.9021	0.09166	0.3142:0.0:0.6858:0.0	.	264	Q5HY64	FA47C_HUMAN	D	264	ENSP00000367913:E264D	ENSP00000367913:E264D	E	+	3	2	FAM47C	36937196	0.005000	0.15991	0.092000	0.20876	0.093000	0.18481	0.048000	0.14078	0.278000	0.22164	0.282000	0.19409	GAG		0.612	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		9	58	1	0	0.00829132	1	0.00851541	9	58				
ZSCAN30	100101467	broad.mit.edu	37	18	32833679	32833679	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr18:32833679T>C	ENST00000420878.3	-	5	1675	c.1220A>G	c.(1219-1221)cAc>cGc	p.H407R	ZNF397_ENST00000592264.1_Intron|ZNF397_ENST00000589420.1_Intron|ZSCAN30_ENST00000333206.5_Missense_Mutation_p.H407R|ZNF397_ENST00000261333.6_Intron|ZNF397_ENST00000355632.4_Intron	NM_001166012.1	NP_001159484.1	Q86W11	ZSC30_HUMAN	zinc finger and SCAN domain containing 30	407					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)			large_intestine(5)|lung(3)|urinary_tract(1)	9						ATCTCCAGTGTGAATTTTCTT	0.433																																						ENST00000420878.3																			0				large_intestine(5)|lung(3)|urinary_tract(1)	9						c.(1219-1221)cAc>cGc		zinc finger and SCAN domain containing 30							95.0	92.0	93.0					18																	32833679		1568	3582	5150	SO:0001583	missense	100101467				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32833679T>C	AY234408	CCDS42427.1, CCDS74207.1	18q12.2	2013-01-08	2010-07-23	2010-07-23	ENSG00000186814	ENSG00000186814		"""-"", ""Zinc fingers, C2H2-type"""	33517	protein-coding gene	gene with protein product			"""zinc finger protein 397 opposite strand"", ""ZNF397 opposite strand"""	ZNF397OS		12801647	Standard	NM_001166012		Approved	ZNF917	uc002kym.3	Q86W11		ENST00000420878.3:c.1220A>G	18.37:g.32833679T>C	ENSP00000392371:p.His407Arg					ZSCAN30_ENST00000333206.5_Missense_Mutation_p.H407R|ZNF397_ENST00000261333.6_Intron|ZNF397_ENST00000355632.4_Intron|ZNF397_ENST00000589420.1_Intron|ZNF397_ENST00000592264.1_Intron	p.H407R	NM_001166012.1	NP_001159484.1	Q86W11	ZSC30_HUMAN			5	1675	-			407					B4E0N0|Q6ZNB3|Q96PN3	Missense_Mutation	SNP	ENST00000420878.3	37	c.1220A>G	CCDS42427.1	.	.	.	.	.	.	.	.	.	.	T	17.86	3.493378	0.64186	.	.	ENSG00000186814	ENST00000420878;ENST00000333206;ENST00000360932	T;T	0.67523	-0.27;-0.27	4.19	4.19	0.49359	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37955	N	0.001875	D	0.82664	0.5086	M	0.88979	2.995	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.85733	0.1332	10	0.87932	D	0	.	11.5304	0.50607	0.0:0.0:0.0:1.0	.	407	Q86W11	ZSC30_HUMAN	R	407;407;342	ENSP00000392371:H407R;ENSP00000329738:H407R	ENSP00000329738:H407R	H	-	2	0	ZSCAN30	31087677	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.866000	0.69590	1.885000	0.54596	0.533000	0.62120	CAC		0.433	ZSCAN30-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442510.1	NM_001112734		3	67	0	0	0	1	0	3	67				
ESPN	83715	broad.mit.edu	37	1	6500486	6500486	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr1:6500486delG	ENST00000377828.1	+	3	829	c.661delG	c.(661-663)gtcfs	p.V221fs	RP1-202O8.2_ENST00000419034.1_RNA	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	221					locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		CCACAGCCCAGTCATCGTGTG	0.756																																						ENST00000377828.1																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17						c.(661-663)tcfs		espin							5.0	6.0	5.0					1																	6500486		2053	3994	6047	SO:0001589	frameshift_variant	83715				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding	g.chr1:6500486delG	AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"""Ankyrin repeat domain containing"""	13281	protein-coding gene	gene with protein product		606351	"""deafness, autosomal recessive 36"""	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.661delG	1.37:g.6500486delG	ENSP00000367059:p.Val221fs						p.V221fs	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)	3	829	+	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)	221					Q6XYB2|Q9H0A2|Q9Y329	Frame_Shift_Del	DEL	ENST00000377828.1	37	c.661delG	CCDS70.1																																																																																				0.756	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001887.3	NM_031475		2	4						2	4	---	---	---	---
RPTN	126638	broad.mit.edu	37	1	152128169	152128172	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr1:152128169_152128172delTGTC	ENST00000316073.3	-	3	1467_1470	c.1403_1406delGACA	c.(1402-1407)agacaafs	p.RQ468fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	468	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.5																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1402-1407)aafs		repetin																																				SO:0001589	frameshift_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128169_152128172delTGTC	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1403_1406delGACA	1.37:g.152128177_152128180delTGTC	ENSP00000317895:p.Arg468fs						p.RQ468fs	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1467_1470	-			468			Gln-rich.		B7ZBZ3	Frame_Shift_Del	DEL	ENST00000316073.3	37	c.1403_1406delGACA	CCDS41397.1																																																																																				0.500	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		8	1029						8	1029	---	---	---	---
RP11-242J7.1	0	broad.mit.edu	37	4	185536410	185536413	+	lincRNA	DEL	TTTG	TTTG	-	rs141045634	byFrequency	TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr4:185536410_185536413delTTTG	ENST00000522554.1	-	0	292																											CAAAGCCGATtttgtttgtttgtt	0.451														576	0.115016	0.0318	0.1974	5008	,	,		25388	0.0982		0.169	False		,,,				2504	0.1309					ENST00000522554.1																			0																																																			0							g.chr4:185536410_185536413delTTTG																													4.37:g.185536418_185536421delTTTG														0	292	-									RNA	DEL	ENST00000522554.1	37																																																																																						0.451	RP11-242J7.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000374071.1			11	5						11	5	---	---	---	---
FNBP4	23360	broad.mit.edu	37	11	47788664	47788669	+	In_Frame_Del	DEL	GGTGGT	GGTGGT	-	rs59413596|rs67450550|rs397711020	byFrequency	TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr11:47788664_47788669delGGTGGT	ENST00000263773.5	-	1	184_189	c.172_177delACCACC	c.(172-177)accaccdel	p.TT58del	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	58						nucleus (GO:0005634)		p.T58_T59delTT(3)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CAGTCACCGCGGTGGTGGTGGTCGTC	0.748														1722	0.34385	0.084	0.317	5008	,	,		12964	0.4345		0.4304	False		,,,				2504	0.5317					ENST00000263773.5																			3	Deletion - In frame(3)	p.T58_T59delTT(3)	prostate(1)|breast(1)|central_nervous_system(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						c.(172-177)del		formin binding protein 4				233,2043		62,109,967						-2.3	0.0		dbSNP_130	3	1924,3380		655,614,1383	no	coding	FNBP4	NM_015308.2		717,723,2350	A1A1,A1R,RR		36.2745,10.2373,28.4565				2157,5423				SO:0001651	inframe_deletion	23360							g.chr11:47788664_47788669delGGTGGT	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.172_177delACCACC	11.37:g.47788670_47788675delGGTGGT	ENSP00000263773:p.Thr58_Thr59del					FNBP4_ENST00000534003.1_5'UTR	p.TT58del	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN			1	184_189	-			58					Q9H985|Q9NT81|Q9Y2L7	In_Frame_Del	DEL	ENST00000263773.5	37	c.172_177delACCACC	CCDS41644.1																																																																																				0.748	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			3	5						3	5	---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6711145	6711147	+	In_Frame_Del	DEL	TCC	TCC	-	rs71584865|rs1639122	byFrequency	TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr12:6711145_6711147delTCC	ENST00000357008.2	-	4	580_582	c.417_419delGGA	c.(415-420)gaggat>gat	p.E139del	CHD4_ENST00000309577.6_In_Frame_Del_p.E139del|CHD4_ENST00000544040.1_In_Frame_Del_p.E132del|CHD4_ENST00000544484.1_In_Frame_Del_p.E136del	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	139	Poly-Asp.		E -> D (in dbSNP:rs1639122). {ECO:0000269|PubMed:7575689}.		ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						ATCATCATCAtcctcctcctcct	0.453																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(415-420)gat>ga		chromodomain helicase DNA binding protein 4																																				SO:0001651	inframe_deletion	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6711145_6711147delTCC	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.417_419delGGA	12.37:g.6711154_6711156delTCC	ENSP00000349508:p.Glu139del					CHD4_ENST00000357008.2_In_Frame_Del_p.ED139del|CHD4_ENST00000544484.1_In_Frame_Del_p.ED136del|CHD4_ENST00000544040.1_In_Frame_Del_p.ED132del	p.ED139del			Q14839	CHD4_HUMAN			4	580_582	-			139		E -> D (in dbSNP:rs1639122).	Poly-Asp.		Q8IXZ5	In_Frame_Del	DEL	ENST00000357008.2	37	c.417_419delGGA	CCDS8552.1																																																																																				0.453	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		7	57						7	57	---	---	---	---
RNASEH2B	79621	broad.mit.edu	37	13	51530586	51530587	+	Frame_Shift_Ins	INS	-	-	A	rs200320729|rs75254367|rs112937854	byFrequency	TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr13:51530586_51530587insA	ENST00000336617.3	+	11	1314_1315	c.915_916insA	c.(916-918)aaafs	p.K306fs	RNASEH2B_ENST00000422660.1_Intron|RNASEH2B_ENST00000495244.2_3'UTR	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN	ribonuclease H2, subunit B	306					in utero embryonic development (GO:0001701)|negative regulation of gene expression (GO:0010629)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of DNA damage checkpoint (GO:2000001)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|ribonucleotide metabolic process (GO:0009259)|RNA catabolic process (GO:0006401)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		GGGTAAAAAATAAAAAAAAAAT	0.297													|||unknown(HR)	150	0.0299521	0.0537	0.0058	5008	,	,		16879	0.004		0.0258	False		,,,				2504	0.046					ENST00000336617.3																			0				endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(913-918)aaaaaafs		ribonuclease H2, subunit B																																				SO:0001589	frameshift_variant	79621				RNA catabolic process	nucleus|ribonuclease H2 complex		g.chr13:51530586_51530587insA	AK021774	CCDS9425.1, CCDS45047.1	13q14.3	2014-09-17	2006-08-17	2006-08-17	ENSG00000136104	ENSG00000136104			25671	protein-coding gene	gene with protein product		610326	"""deleted in lymphocytic leukemia 8"", ""Aicardi-Goutieres syndrome 2"""	DLEU8, AGS2		16845400	Standard	NM_001142279		Approved	FLJ11712	uc001vfa.4	Q5TBB1	OTTHUMG00000016937	ENST00000336617.3:c.925dupA	13.37:g.51530596_51530596dupA	ENSP00000337623:p.Lys306fs					RNASEH2B_ENST00000495244.2_3'UTR|RNASEH2B_ENST00000422660.1_Intron	p.KK305fs	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN		GBM - Glioblastoma multiforme(99;9e-08)	11	1314_1315	+		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)	305					G3XAJ1|Q05DR2|Q6PK48|Q9HAF7	Frame_Shift_Ins	INS	ENST00000336617.3	37	c.915_916insA	CCDS9425.1																																																																																				0.297	RNASEH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045006.3	NM_024570		4	8						4	8	---	---	---	---
ZIC5	85416	broad.mit.edu	37	13	100623637	100623637	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr13:100623637delT	ENST00000267294.4	-	1	526	c.293delA	c.(292-294)cagfs	p.Q98fs		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	98					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CGTGCTCGCCTGGGCCATGTG	0.771																																						ENST00000267294.4																			0				endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9						c.(292-294)cgfs		Zic family member 5							6.0	6.0	6.0					13																	100623637		1973	3794	5767	SO:0001589	frameshift_variant	85416				cell differentiation	nucleus	DNA binding|zinc ion binding	g.chr13:100623637delT	AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"""Zinc fingers, C2H2-type"""	20322	protein-coding gene	gene with protein product			"""Zic family member 5 (odd-paired homolog, Drosophila)"""				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.293delA	13.37:g.100623637delT	ENSP00000267294:p.Gln98fs						p.Q98fs	NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN			1	526	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		98					Q5VYB0	Frame_Shift_Del	DEL	ENST00000267294.4	37	c.293delA	CCDS9494.2																																																																																				0.771	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	NM_033132		2	4						2	4	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25465467	25465469	+	RNA	DEL	GAA	GAA	-	rs139379892|rs375695430	byFrequency	TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr15:25465467_25465469delGAA	ENST00000424208.1	+	0	3039				SNHG14_ENST00000365067.1_RNA|SNORD115-27_ENST00000364430.1_RNA|SNORD115-28_ENST00000363931.1_RNA|SNHG14_ENST00000453082.2_RNA|SNORD115-29_ENST00000362834.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		TGGTGAGACCGAAGAAGACTTGC	0.581														920	0.183706	0.0197	0.2651	5008	,	,		19755	0.0724		0.4324	False		,,,				2504	0.2065					ENST00000424208.1																			0																																																			0							g.chr15:25465467_25465469delGAA			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25465470_25465472delGAA						SNHG14_ENST00000453082.2_RNA		NR_003305.1						0	3039	+									RNA	DEL	ENST00000424208.1	37																																																																																						0.581	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			9	4						9	4	---	---	---	---
BCRP7	100133163	broad.mit.edu	37	22	18843723	18843724	+	Intron	INS	-	-	A	rs551366566|rs370464593		TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr22:18843723_18843724insA	ENST00000412938.1	+	4	2337																											AGGGGCACCCCACGGCCTGGAG	0.619																																						ENST00000412938.1																			0																																																	SO:0001627	intron_variant	0							g.chr22:18843723_18843724insA																												ENST00000412938.1:c.2337+292->A	22.37:g.18843724_18843724dupA														0	2337	+									RNA	INS	ENST00000412938.1	37																																																																																						0.619	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			5	8						5	8	---	---	---	---
