#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
USP10	9100	broad.mit.edu	37	16	84778248	84778248	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr16:84778248A>G	ENST00000219473.7	+	4	274	c.161A>G	c.(160-162)tAt>tGt	p.Y54C	USP10_ENST00000570191.1_Missense_Mutation_p.Y58C|USP10_ENST00000562743.1_3'UTR	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	54	Interaction with p53/TP53.				autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GGACAAGAATATCAGAGAATT	0.393																																						ENST00000219473.7																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						c.(160-162)tAt>tGt		ubiquitin specific peptidase 10							40.0	37.0	38.0					16																	84778248		1844	4081	5925	SO:0001583	missense	9100				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:84778248A>G	D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"""Ubiquitin-specific peptidases"""	12608	protein-coding gene	gene with protein product		609818	"""ubiquitin specific protease 10"""			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.161A>G	16.37:g.84778248A>G	ENSP00000219473:p.Tyr54Cys					USP10_ENST00000562743.1_3'UTR|USP10_ENST00000570191.1_Missense_Mutation_p.Y58C	p.Y54C	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN			4	274	+			54			Interaction with p53/TP53.		B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Missense_Mutation	SNP	ENST00000219473.7	37	c.161A>G	CCDS45537.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.712|8.712	0.912341|0.912341	0.17907|0.17907	.|.	.|.	ENSG00000103194|ENSG00000103194	ENST00000540269|ENST00000219473	.|T	.|0.08984	.|3.03	5.06|5.06	2.82|2.82	0.32997|0.32997	.|.	.|1.724280	.|0.02713	.|N	.|0.113064	T|T	0.09379|0.09379	0.0231|0.0231	L|L	0.34521|0.34521	1.04|1.04	0.41426|0.41426	D|D	0.987839|0.987839	.|B;B	.|0.13594	.|0.008;0.002	.|B;B	.|0.13407	.|0.009;0.003	T|T	0.12142|0.12142	-1.0559|-1.0559	6|10	0.66056|0.30078	D|T	0.02|0.28	-0.7158|-0.7158	9.1534|9.1534	0.36978|0.36978	0.8972:0.0:0.1028:0.0|0.8972:0.0:0.1028:0.0	.|.	.|58;54	.|Q14694-3;Q14694	.|.;UBP10_HUMAN	V|C	34|54	.|ENSP00000219473:Y54C	ENSP00000445589:I34V|ENSP00000219473:Y54C	I|Y	+|+	1|2	0|0	USP10|USP10	83335749|83335749	1.000000|1.000000	0.71417|0.71417	0.077000|0.077000	0.20336|0.20336	0.930000|0.930000	0.56654|0.56654	1.858000|1.858000	0.39408|0.39408	0.275000|0.275000	0.22094|0.22094	0.402000|0.402000	0.26972|0.26972	ATC|TAT		0.393	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			3	28	0	0	0	1	0	3	28				
SLC6A18	348932	broad.mit.edu	37	5	1243683	1243683	+	Missense_Mutation	SNP	C	C	T	rs199865996		TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr5:1243683C>T	ENST00000324642.3	+	9	1268	c.1145C>T	c.(1144-1146)cCg>cTg	p.P382L	SLC6A18_ENST00000296821.4_Missense_Mutation_p.P311L	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	382					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCCTCGGGCCCGGGCCTGGCC	0.647																																						ENST00000324642.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34						c.(1144-1146)cCg>cTg		solute carrier family 6 (neutral amino acid transporter), member 18		C	LEU/PRO	0,4406		0,0,2203	66.0	62.0	64.0		1145	5.0	0.9	5		64	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC6A18	NM_182632.2	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	382/629	1243683	1,13005	2203	4300	6503	SO:0001583	missense	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1243683C>T	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.1145C>T	5.37:g.1243683C>T	ENSP00000323549:p.Pro382Leu					SLC6A18_ENST00000296821.4_Missense_Mutation_p.P311L	p.P382L	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		9	1268	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		382						Missense_Mutation	SNP	ENST00000324642.3	37	c.1145C>T	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347789	0.61183	0.0	1.16E-4	ENSG00000164363	ENST00000324642;ENST00000296821	T;T	0.77229	-1.08;-1.08	4.98	4.98	0.66077	.	0.228644	0.37623	N	0.002013	T	0.80513	0.4637	M	0.74389	2.26	0.46609	D	0.999124	D	0.54964	0.969	P	0.44561	0.453	D	0.84835	0.0804	10	0.87932	D	0	.	17.8393	0.88710	0.0:1.0:0.0:0.0	.	382	Q96N87	S6A18_HUMAN	L	382;311	ENSP00000323549:P382L;ENSP00000296821:P311L	ENSP00000296821:P311L	P	+	2	0	SLC6A18	1296683	1.000000	0.71417	0.933000	0.37362	0.164000	0.22412	7.184000	0.77705	2.321000	0.78463	0.561000	0.74099	CCG		0.647	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		7	34	0	0	0	1	0	7	34				
KLK15	55554	broad.mit.edu	37	19	51330985	51330985	+	Missense_Mutation	SNP	G	G	A	rs140896741	byFrequency	TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr19:51330985G>A	ENST00000598239.1	-	2	160	c.130C>T	c.(130-132)Cgc>Tgc	p.R44C	KLK15_ENST00000596931.1_Missense_Mutation_p.R43C|KLK15_ENST00000416184.1_Missense_Mutation_p.R44C|KLK15_ENST00000301421.2_Missense_Mutation_p.R44C|AC011523.2_ENST00000598079.1_RNA|KLK15_ENST00000326856.4_Missense_Mutation_p.R43C	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	44	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		CAGTTAAAGCGTCCACGCTCG	0.612																																					Pancreas(140;10 2513 7143 9246)	ENST00000326856.4																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24						c.(127-129)Cgc>Tgc		kallikrein-related peptidase 15		G	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	98.0	72.0	81.0		130,130,130	3.6	0.0	19	dbSNP_134	81	3,8587	3.0+/-9.4	0,3,4292	yes	missense,missense,missense	KLK15	NM_017509.2,NM_138563.1,NM_138564.1	180,180,180	0,3,6495	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging	44/257,44/162,44/172	51330985	3,12993	2203	4295	6498	SO:0001583	missense	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51330985G>A	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"""Kallikreins"""	20453	protein-coding gene	gene with protein product		610601	"""kallikrein 15"""			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.130C>T	19.37:g.51330985G>A	ENSP00000469315:p.Arg44Cys					KLK15_ENST00000416184.1_Missense_Mutation_p.R44C|KLK15_ENST00000301421.2_Missense_Mutation_p.R44C|KLK15_ENST00000598239.1_Missense_Mutation_p.R44C|KLK15_ENST00000596931.1_Missense_Mutation_p.R43C	p.R43C	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	3	256	-		all_neural(266;0.057)	44			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	ENST00000598239.1	37	c.127C>T	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252707	0.59212	0.0	3.49E-4	ENSG00000174562	ENST00000326856;ENST00000416184;ENST00000301421;ENST00000544946	D;D	0.89196	-2.48;-2.48	4.66	3.62	0.41486	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.43416	D	0.000569	D	0.91981	0.7460	M	0.66506	2.035	0.43517	D	0.995781	D;D;B;D	0.89917	0.962;1.0;0.383;1.0	B;D;B;D	0.79784	0.236;0.959;0.167;0.993	D	0.91211	0.4999	10	0.66056	D	0.02	.	7.3009	0.26420	0.1977:0.0:0.8023:0.0	.	44;43;44;44	Q6UBM2;Q6ISI0;Q9H2R5-4;Q9H2R5	.;.;.;KLK15_HUMAN	C	44	ENSP00000415136:R44C;ENSP00000301421:R44C	ENSP00000301421:R44C	R	-	1	0	KLK15	56022797	1.000000	0.71417	0.017000	0.16124	0.815000	0.46073	4.427000	0.59888	1.324000	0.45282	0.561000	0.74099	CGC		0.612	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509		17	29	0	0	0	1	0	17	29				
FNBP4	23360	broad.mit.edu	37	11	47753113	47753113	+	Splice_Site	SNP	C	C	T			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr11:47753113C>T	ENST00000263773.5	-	12	1833	c.1821G>A	c.(1819-1821)agG>agA	p.R607R	FNBP4_ENST00000534003.1_5'Flank	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	607	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.					nucleus (GO:0005634)				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						GTCTATGATCCCTAAATTACA	0.438																																						ENST00000263773.5																			0				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.e12-1		formin binding protein 4							89.0	81.0	83.0					11																	47753113		1849	4097	5946	SO:0001630	splice_region_variant	23360							g.chr11:47753113C>T	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.1821-1G>A	11.37:g.47753113C>T							p.R607_splice	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN			12	1833	-			607			WW 2.		Q9H985|Q9NT81|Q9Y2L7	Splice_Site	SNP	ENST00000263773.5	37	c.1820_splice	CCDS41644.1																																																																																				0.438	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3		Silent	24	28	0	0	0	1	0	24	28				
MS4A3	932	broad.mit.edu	37	11	59831748	59831748	+	Missense_Mutation	SNP	G	G	A	rs374038673		TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr11:59831748G>A	ENST00000278865.3	+	4	381	c.308G>A	c.(307-309)gGa>gAa	p.G103E	MS4A3_ENST00000395032.2_5'UTR|MS4A3_ENST00000358152.2_Missense_Mutation_p.G57E|MS4A3_ENST00000534744.1_Missense_Mutation_p.G57E	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	103						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				TGTAGTTCAGGAACCTTGTCT	0.363																																						ENST00000278865.3																			0				endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(307-309)gGa>gAa		membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)		G	GLU/GLY,GLU/GLY,	0,4402		0,0,2201	135.0	142.0	140.0		170,308,	3.4	0.6	11		140	1,8589	1.2+/-3.3	0,1,4294	no	missense,missense,utr-5	MS4A3	NM_001031809.1,NM_006138.4,NM_001031666.1	98,98,	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,	57/169,103/215,	59831748	1,12991	2201	4295	6496	SO:0001583	missense	932					endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity	g.chr11:59831748G>A	L35848	CCDS31567.1, CCDS31568.1, CCDS41651.1	11q12-q13.1	2008-03-25				ENSG00000149516			7317	protein-coding gene	gene with protein product		606498		CD20L		7524084	Standard	NM_006138		Approved	HTM4	uc001nom.3	Q96HJ5		ENST00000278865.3:c.308G>A	11.37:g.59831748G>A	ENSP00000278865:p.Gly103Glu					MS4A3_ENST00000358152.2_Missense_Mutation_p.G57E|MS4A3_ENST00000395032.2_5'UTR|MS4A3_ENST00000534744.1_Missense_Mutation_p.G57E	p.G103E	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN			4	381	+		all_epithelial(135;0.245)	103					A8MTP8|Q8NHW2	Missense_Mutation	SNP	ENST00000278865.3	37	c.308G>A	CCDS31567.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.703388	0.30232	0.0	1.16E-4	ENSG00000149516	ENST00000358152;ENST00000278865;ENST00000534744	T;T;T	0.21191	2.02;2.02;2.02	4.32	3.4	0.38934	.	0.055018	0.64402	N	0.000001	T	0.48714	0.1515	M	0.92880	3.355	0.45183	D	0.998198	D;D	0.60575	0.985;0.988	P;D	0.63793	0.866;0.918	T	0.55256	-0.8169	10	0.87932	D	0	-12.8456	8.065	0.30654	0.1117:0.0:0.8883:0.0	.	57;103	Q96HJ5-2;Q96HJ5	.;MS4A3_HUMAN	E	57;103;57	ENSP00000350872:G57E;ENSP00000278865:G103E;ENSP00000434117:G57E	ENSP00000278865:G103E	G	+	2	0	MS4A3	59588324	0.996000	0.38824	0.617000	0.29091	0.084000	0.17831	2.223000	0.42936	1.150000	0.42419	0.591000	0.81541	GGA		0.363	MS4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394417.1			3	29	0	0	0	1	0	3	29				
KIAA1462	57608	broad.mit.edu	37	10	30318281	30318281	+	Missense_Mutation	SNP	C	C	T	rs199858771		TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr10:30318281C>T	ENST00000375377.1	-	3	897	c.796G>A	c.(796-798)Gca>Aca	p.A266T		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	266	Pro-rich.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						AAATTTGGTGCGCAAGTGGGA	0.522													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19907	0.0		0.0	False		,,,				2504	0.0					ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(796-798)Gca>Aca		KIAA1462		C	THR/ALA	0,3906		0,0,1953	95.0	97.0	96.0		796	-1.4	0.0	10		96	1,8291		0,1,4145	yes	missense	KIAA1462	NM_020848.2	58	0,1,6098	TT,TC,CC		0.0121,0.0,0.0082	possibly-damaging	266/1360	30318281	1,12197	1953	4146	6099	SO:0001583	missense	57608							g.chr10:30318281C>T	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.796G>A	10.37:g.30318281C>T	ENSP00000364526:p.Ala266Thr						p.A266T	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	897	-			266			Pro-rich.		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.796G>A	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	C	9.017	0.983966	0.18889	0.0	1.21E-4	ENSG00000165757	ENST00000375377	T	0.13089	2.62	5.12	-1.38	0.09027	.	1.001150	0.08058	N	0.997634	T	0.11537	0.0281	L	0.57536	1.79	0.09310	N	1	P	0.46952	0.887	B	0.36186	0.219	T	0.35699	-0.9778	10	0.27082	T	0.32	-7.1568	8.2988	0.32001	0.0:0.4467:0.3659:0.1874	.	266	Q9P266	K1462_HUMAN	T	266	ENSP00000364526:A266T	ENSP00000364526:A266T	A	-	1	0	KIAA1462	30358287	0.005000	0.15991	0.000000	0.03702	0.001000	0.01503	0.704000	0.25661	-0.072000	0.12864	-2.352000	0.00242	GCA		0.522	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		6	61	0	0	0	1	0	6	61				
SLC35D1	23169	broad.mit.edu	37	1	67517761	67517761	+	Splice_Site	SNP	G	G	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr1:67517761G>A	ENST00000235345.5	-	4	411	c.326C>T	c.(325-327)aCg>aTg	p.T109M	SLC35D1_ENST00000506472.2_Splice_Site_p.T30M	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	109					carbohydrate transport (GO:0008643)|cellular glucuronidation (GO:0052695)|chondroitin sulfate biosynthetic process (GO:0030206)|embryonic skeletal system development (GO:0048706)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|UDP-glucuronate biosynthetic process (GO:0006065)|UDP-glucuronic acid transport (GO:0015787)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	UDP-glucuronic acid transmembrane transporter activity (GO:0005461)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						TAGTGGAAACGTCTAGAAAAT	0.299																																						ENST00000235345.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						c.e4-1		solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	Lorazepam(DB00186)						64.0	69.0	67.0					1																	67517761		2202	4294	6496	SO:0001630	splice_region_variant	23169				chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity	g.chr1:67517761G>A	AB044343	CCDS636.1	1p32-p31	2013-07-17	2013-07-17		ENSG00000116704	ENSG00000116704		"""Solute carriers"""	20800	protein-coding gene	gene with protein product		610804	"""solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1"""			11322953	Standard	NM_015139		Approved	UGTREL7, KIAA0260	uc001ddk.2	Q9NTN3	OTTHUMG00000009360	ENST00000235345.5:c.325-1C>T	1.37:g.67517761G>A						SLC35D1_ENST00000506472.2_Splice_Site_p.T30_splice	p.T109_splice	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN			4	411	-			109					A8K185|B7Z3X2|Q52LU5|Q92548	Splice_Site	SNP	ENST00000235345.5	37	c.324_splice	CCDS636.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521092	0.44866	.	.	ENSG00000116704	ENST00000235345;ENST00000506472	T;T	0.64085	-0.08;0.34	5.55	5.55	0.83447	.	0.044496	0.85682	D	0.000000	T	0.38214	0.1032	L	0.31926	0.97	0.58432	D	0.999999	B;B	0.28880	0.226;0.226	B;B	0.17433	0.018;0.011	T	0.26292	-1.0107	10	0.32370	T	0.25	-17.337	18.2671	0.90055	0.0:0.0:1.0:0.0	.	30;109	B7Z3X2;Q9NTN3	.;S35D1_HUMAN	M	109;30	ENSP00000235345:T109M;ENSP00000445189:T30M	ENSP00000235345:T109M	T	-	2	0	SLC35D1	67290349	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.061000	0.57485	2.623000	0.88846	0.585000	0.79938	ACG		0.299	SLC35D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025948.1	NM_015139	Missense_Mutation	22	32	0	0	0	1	0	22	32				
NCOR2	9612	broad.mit.edu	37	12	124810104	124810104	+	Silent	SNP	G	G	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr12:124810104G>A	ENST00000405201.1	-	47	7389	c.7389C>T	c.(7387-7389)ccC>ccT	p.P2463P	NCOR2_ENST00000404621.1_Silent_p.P2407P|NCOR2_ENST00000356219.3_Silent_p.P2470P|NCOR2_ENST00000397355.1_Silent_p.P2408P|NCOR2_ENST00000404121.2_Silent_p.P2024P|NCOR2_ENST00000429285.2_Silent_p.P2453P			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2474					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCATGATCAGGGGGTTGTAGG	0.721																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(7408-7410)ccC>ccT		nuclear receptor corepressor 2							11.0	15.0	14.0					12																	124810104		1897	4069	5966	SO:0001819	synonymous_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124810104G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.7389C>T	12.37:g.124810104G>A						NCOR2_ENST00000397355.1_Silent_p.P2408P|NCOR2_ENST00000404121.2_Silent_p.P2024P|NCOR2_ENST00000429285.2_Silent_p.P2453P|NCOR2_ENST00000405201.1_Silent_p.P2463P|NCOR2_ENST00000404621.1_Silent_p.P2407P	p.P2470P	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	48	7565	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		2474					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	c.7410C>T	CCDS41858.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.509|7.509	0.654213|0.654213	0.14580|0.14580	.|.	.|.	ENSG00000196498|ENSG00000196498	ENST00000443451|ENST00000418829;ENST00000413172	.|.	.|.	.|.	4.23|4.23	0.092|0.092	0.14470|0.14470	.|.	0.062440|0.062440	0.64402|0.64402	D|D	0.000003|0.000003	T|T	0.48714|0.48714	0.1515|0.1515	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.45600|0.45600	-0.9250|-0.9250	6|6	0.87932|0.87932	D|D	0|0	-26.2327|-26.2327	0.9809|0.9809	0.01436|0.01436	0.2463:0.1304:0.3863:0.2371|0.2463:0.1304:0.3863:0.2371	.|.	.|.	.|.	.|.	L|S	260|129;132	.|.	ENSP00000405246:P260L|ENSP00000407357:P132S	P|P	-|-	2|1	0|0	NCOR2|NCOR2	123376057|123376057	0.017000|0.017000	0.18338|0.18338	0.997000|0.997000	0.53966|0.53966	0.589000|0.589000	0.36550|0.36550	-0.945000|-0.945000	0.03909|0.03909	-0.104000|-0.104000	0.12154|0.12154	0.313000|0.313000	0.20887|0.20887	CCC|CCT		0.721	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		3	1	0	0	0	1	0	3	1				
CSF3	1440	broad.mit.edu	37	17	38172560	38172560	+	Silent	SNP	C	C	T			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr17:38172560C>T	ENST00000225474.2	+	3	310	c.279C>T	c.(277-279)ccC>ccT	p.P93P	CSF3_ENST00000331769.2_Silent_p.P86P|CSF3_ENST00000577675.1_Intron|RP11-387H17.6_ENST00000583462.1_lincRNA|CSF3_ENST00000394148.3_Intron|CSF3_ENST00000394149.3_Silent_p.P90P			P09919	CSF3_HUMAN	colony stimulating factor 3 (granulocyte)	93					cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|granulocyte differentiation (GO:0030851)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of neuron death (GO:1901215)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|enzyme binding (GO:0019899)|granulocyte colony-stimulating factor receptor binding (GO:0005130)			endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)				CCTGGGCTCCCCTGAGCAGCT	0.632																																						ENST00000331769.2																			0				endometrium(1)|ovary(1)|prostate(1)	3						c.(256-258)ccC>ccT		colony stimulating factor 3 (granulocyte)	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						22.0	20.0	20.0					17																	38172560		2202	4295	6497	SO:0001819	synonymous_variant	1440				cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity	g.chr17:38172560C>T		CCDS11357.1, CCDS11358.1, CCDS42314.1, CCDS11358.2	17q11.2-q12	2014-01-30			ENSG00000108342	ENSG00000108342		"""Endogenous ligands"""	2438	protein-coding gene	gene with protein product	"""granulocyte colony stimulating factor"", ""pluripoietin"", ""filgrastim"", ""lenograstim"""	138970	"""chromosome 17 open reading frame 33"""	GCSF, G-CSF, C17orf33		3499671, 3501046	Standard	NM_000759		Approved	MGC45931	uc002htp.3	P09919	OTTHUMG00000133247	ENST00000225474.2:c.279C>T	17.37:g.38172560C>T						CSF3_ENST00000225474.2_Silent_p.P93P|CSF3_ENST00000394148.3_Intron|CSF3_ENST00000394149.3_Silent_p.P90P|CSF3_ENST00000577675.1_Intron	p.P86P			P09919	CSF3_HUMAN			2	474	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	93					A8MXR7	Silent	SNP	ENST00000225474.2	37	c.258C>T	CCDS11357.1																																																																																				0.632	CSF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256988.2	NM_172220		8	9	0	0	0	1	0	8	9				
APOB	338	broad.mit.edu	37	2	21230419	21230419	+	Silent	SNP	G	G	A	rs72653101	byFrequency	TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr2:21230419G>A	ENST00000233242.1	-	26	9448	c.9321C>T	c.(9319-9321)aaC>aaT	p.N3107N		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3107					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAATGTTCTCGTTGTTTCCAG	0.403													G|||	3	0.000599042	0.0008	0.0	5008	,	,		19889	0.001		0.001	False		,,,				2504	0.0					ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(9319-9321)aaC>aaT		apolipoprotein B	Atorvastatin(DB01076)						102.0	104.0	104.0					2																	21230419		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21230419G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.9321C>T	2.37:g.21230419G>A							p.N3107N	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	9448	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3107					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.9321C>T	CCDS1703.1																																																																																				0.403	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			33	46	0	0	0	1	0	33	46				
EIF2S2	8894	broad.mit.edu	37	20	32684527	32684527	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr20:32684527G>C	ENST00000374980.2	-	6	840	c.619C>G	c.(619-621)Cca>Gca	p.P207A		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	207					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|male germ cell proliferation (GO:0002176)|male gonad development (GO:0008584)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						ACGACTTGTGGAGGTTTCATG	0.388																																						ENST00000374980.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						c.(619-621)Cca>Gca		eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa							114.0	113.0	113.0					20																	32684527		2203	4297	6500	SO:0001583	missense	8894					cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity	g.chr20:32684527G>C	M29536	CCDS13231.1	20q11.2	2012-04-17	2002-08-29		ENSG00000125977	ENSG00000125977		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	3266	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 67"""	603908	"""eukaryotic translation initiation factor 2, subunit 2 (beta, 38kD )"""	EIF2		3044606	Standard	XM_005260605		Approved	EIF2beta, PPP1R67	uc031rsu.1	P20042	OTTHUMG00000032287	ENST00000374980.2:c.619C>G	20.37:g.32684527G>C	ENSP00000364119:p.Pro207Ala						p.P207A	NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN			6	840	-			207					Q9BVU0|Q9UJE4	Missense_Mutation	SNP	ENST00000374980.2	37	c.619C>G	CCDS13231.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.015759	0.93404	.	.	ENSG00000125977	ENST00000374980	T	0.46451	0.87	5.77	5.77	0.91146	Translation initiation factor IF2/IF5, N-terminal (1);Translation initiation factor IF2/IF5 (2);	0.000000	0.85682	D	0.000000	T	0.65893	0.2735	M	0.65498	2.005	0.80722	D	1	P;D;D	0.69078	0.927;0.997;0.997	P;D;D	0.79108	0.888;0.992;0.992	T	0.66006	-0.6030	10	0.87932	D	0	-34.5139	20.3626	0.98863	0.0:0.0:1.0:0.0	.	207;207;207	B5BU01;Q6IBR8;P20042	.;.;IF2B_HUMAN	A	207	ENSP00000364119:P207A	ENSP00000364119:P207A	P	-	1	0	EIF2S2	32148188	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.526000	0.98042	2.885000	0.99019	0.655000	0.94253	CCA		0.388	EIF2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078765.2	NM_003908		4	106	0	0	0	1	0	4	106				
AMBRA1	55626	broad.mit.edu	37	11	46431879	46431879	+	Silent	SNP	C	C	G			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr11:46431879C>G	ENST00000458649.2	-	16	3574	c.3156G>C	c.(3154-3156)ctG>ctC	p.L1052L	AMBRA1_ENST00000426438.1_Silent_p.L1023L|AMBRA1_ENST00000528950.1_Silent_p.L1023L|AMBRA1_ENST00000298834.3_Silent_p.L992L|AMBRA1_ENST00000314845.3_Silent_p.L962L|AMBRA1_ENST00000534300.1_Silent_p.L992L|AMBRA1_ENST00000533727.1_Silent_p.L933L			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1052					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CCGTCTCGTTCAGCTGGTCCC	0.532																																						ENST00000458649.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39						c.(3154-3156)ctG>ctC		autophagy/beclin-1 regulator 1							119.0	104.0	109.0					11																	46431879		2201	4299	6500	SO:0001819	synonymous_variant	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46431879C>G	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.3156G>C	11.37:g.46431879C>G						AMBRA1_ENST00000298834.3_Silent_p.L992L|AMBRA1_ENST00000426438.1_Silent_p.L1023L|AMBRA1_ENST00000528950.1_Silent_p.L1023L|AMBRA1_ENST00000534300.1_Silent_p.L992L|AMBRA1_ENST00000533727.1_Silent_p.L933L|AMBRA1_ENST00000314845.3_Silent_p.L962L	p.L1052L			Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	16	3574	-			1052					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Silent	SNP	ENST00000458649.2	37	c.3156G>C																																																																																					0.532	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		7	103	0	0	0	1	0	7	103				
DNAJC14	85406	broad.mit.edu	37	12	56222131	56222131	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr12:56222131G>T	ENST00000357606.3	-	3	601	c.312C>A	c.(310-312)gaC>gaA	p.D104E	RP11-762I7.5_ENST00000546837.1_5'Flank|DNAJC14_ENST00000317269.3_Missense_Mutation_p.D104E|TMEM198B_ENST00000478241.1_RNA|DNAJC14_ENST00000317287.5_Missense_Mutation_p.D104E			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	104					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						AGAGTTCCTGGTCCACTCCTG	0.527																																						ENST00000357606.3																			0				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						c.(310-312)gaC>gaA		DnaJ (Hsp40) homolog, subfamily C, member 14							219.0	234.0	229.0					12																	56222131		2203	4300	6503	SO:0001583	missense	85406				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:56222131G>T	AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.312C>A	12.37:g.56222131G>T	ENSP00000350223:p.Asp104Glu					DNAJC14_ENST00000317287.5_Missense_Mutation_p.D104E|DNAJC14_ENST00000317269.3_Missense_Mutation_p.D104E	p.D104E			Q6Y2X3	DJC14_HUMAN			3	601	-			104					A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	ENST00000357606.3	37	c.312C>A	CCDS8894.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031147	0.35797	.	.	ENSG00000135392	ENST00000357606;ENST00000317269;ENST00000317287;ENST00000547445	T;T;T	0.33865	1.39;1.39;1.39	5.39	2.6	0.31112	.	0.238619	0.33691	N	0.004659	T	0.19127	0.0459	N	0.12182	0.205	0.26233	N	0.978989	P;P	0.46784	0.884;0.533	B;B	0.41466	0.358;0.138	T	0.07009	-1.0795	10	0.39692	T	0.17	-14.3007	7.4866	0.27437	0.2669:0.0:0.7331:0.0	.	104;104	Q6Y2X3;A8K5A7	DJC14_HUMAN;.	E	104	ENSP00000350223:D104E;ENSP00000316240:D104E;ENSP00000317500:D104E	ENSP00000316240:D104E	D	-	3	2	DNAJC14	54508398	1.000000	0.71417	0.997000	0.53966	0.382000	0.30200	0.820000	0.27323	0.360000	0.24265	-0.142000	0.14014	GAC		0.527	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364		9	300	1	0	0.000274275	1	0.000287989	9	300				
ADCY1	107	broad.mit.edu	37	7	45717491	45717491	+	Silent	SNP	G	G	A	rs370138365		TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr7:45717491G>A	ENST00000297323.7	+	9	1651	c.1629G>A	c.(1627-1629)tcG>tcA	p.S543S		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	543					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GAACAGCCTCGGAAAAACTCA	0.498																																						ENST00000297323.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1627-1629)tcG>tcA		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	G		0,4406		0,0,2203	83.0	98.0	93.0		1629	-10.5	0.1	7		93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADCY1	NM_021116.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		543/1120	45717491	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45717491G>A	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1629G>A	7.37:g.45717491G>A							p.S543S	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN			9	1651	+			543					A4D2L8|Q75MI1	Silent	SNP	ENST00000297323.7	37	c.1629G>A	CCDS34631.1																																																																																				0.498	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		4	125	0	0	0	1	0	4	125				
OR4C13	283092	broad.mit.edu	37	11	49974773	49974773	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr11:49974773A>G	ENST00000555099.1	+	1	831	c.799A>G	c.(799-801)Aaa>Gaa	p.K267E		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	267						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						ACCCATTGATAAAGCAGTTGC	0.393																																						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.(799-801)Aaa>Gaa		olfactory receptor, family 4, subfamily C, member 13							129.0	123.0	125.0					11																	49974773		2201	4296	6497	SO:0001583	missense	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974773A>G	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.799A>G	11.37:g.49974773A>G	ENSP00000452277:p.Lys267Glu						p.K267E	NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN			1	831	+			267					A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	ENST00000555099.1	37	c.799A>G	CCDS31495.1	.	.	.	.	.	.	.	.	.	.	.	10.51	1.370032	0.24771	.	.	ENSG00000258817	ENST00000555099	T	0.00183	8.6	2.91	2.91	0.33838	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000135	T	0.00384	0.0012	M	0.85777	2.775	0.09310	N	1	P	0.49185	0.92	P	0.54924	0.764	T	0.33240	-0.9876	9	.	.	.	.	4.7883	0.13236	0.8519:0.0:0.1481:0.0	.	267	Q8NGP0	OR4CD_HUMAN	E	267	ENSP00000452277:K267E	.	K	+	1	0	OR4C13	49931349	0.180000	0.23148	0.833000	0.33012	0.094000	0.18550	2.919000	0.48836	1.342000	0.45619	0.156000	0.16432	AAA		0.393	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		4	91	0	0	0	1	0	4	91				
MYH4	4622	broad.mit.edu	37	17	10370011	10370011	+	Nonsense_Mutation	SNP	G	G	A	rs373223401		TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr17:10370011G>A	ENST00000255381.2	-	3	162	c.52C>T	c.(52-54)Cga>Tga	p.R18*	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	18					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCAGACTTTCGGAGGAAAGGA	0.478																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(52-54)Cga>Tga		myosin, heavy chain 4, skeletal muscle		G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	107.0	97.0	100.0		52	3.5	1.0	17		100	0,8600		0,0,4300	no	stop-gained	MYH4	NM_017533.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		18/1940	10370011	1,13005	2203	4300	6503	SO:0001587	stop_gained	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10370011G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.52C>T	17.37:g.10370011G>A	ENSP00000255381:p.Arg18*					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.R18*	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			3	162	-			18			Myosin head-like.			Nonsense_Mutation	SNP	ENST00000255381.2	37	c.52C>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430843	0.83776	2.27E-4	0.0	ENSG00000141048	ENST00000255381	.	.	.	4.53	3.48	0.39840	.	0.000000	0.31847	U	0.006970	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5501	0.68059	0.0:0.0:0.8534:0.1466	.	.	.	.	X	18	.	ENSP00000255381:R18X	R	-	1	2	MYH4	10310736	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.333000	0.43912	2.498000	0.84270	0.650000	0.86243	CGA		0.478	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		14	83	0	0	0	1	0	14	83				
UBE2G2	7327	broad.mit.edu	37	21	46207992	46207992	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr21:46207992G>A	ENST00000345496.2	-	2	332	c.62C>T	c.(61-63)cCg>cTg	p.P21L	UBE2G2_ENST00000477954.1_5'UTR|UBE2G2_ENST00000330942.5_5'UTR	NM_003343.5	NP_003334.2	P60604	UB2G2_HUMAN	ubiquitin-conjugating enzyme E2G 2	21					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein K48-linked ubiquitination (GO:0070936)|protein N-linked glycosylation via asparagine (GO:0018279)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|central_nervous_system(1)|lung(1)	5				Colorectal(79;0.0638)		AATTCCTTCCGGAGGATTCAG	0.269																																						ENST00000345496.2																			0				breast(3)|central_nervous_system(1)|lung(1)	5						c.(61-63)cCg>cTg		ubiquitin-conjugating enzyme E2G 2							43.0	46.0	45.0					21																	46207992		2201	4300	6501	SO:0001583	missense	7327				protein K48-linked ubiquitination	cytosol	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr21:46207992G>A	BC008351	CCDS13714.1, CCDS33586.1	21q22.3	2011-05-19	2011-05-19		ENSG00000184787	ENSG00000184787		"""Ubiquitin-conjugating enzymes E2"""	12483	protein-coding gene	gene with protein product		603124	"""ubiquitin-conjugating enzyme E2G 2 (homologous to yeast UBC7)"", ""ubiquitin-conjugating enzyme E2G 2 (UBC7 homolog, yeast)"""			9693041, 9925943	Standard	NM_003343		Approved	UBC7	uc002zfy.3	P60604	OTTHUMG00000089179	ENST00000345496.2:c.62C>T	21.37:g.46207992G>A	ENSP00000338348:p.Pro21Leu					UBE2G2_ENST00000330942.5_5'UTR|UBE2G2_ENST00000477954.1_5'UTR	p.P21L	NM_003343.5	NP_003334.2	P60604	UB2G2_HUMAN		Colorectal(79;0.0638)	2	332	-			21					A6NMQ7|A8K3L4|D3DSL7|P56554	Missense_Mutation	SNP	ENST00000345496.2	37	c.62C>T	CCDS13714.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420155	0.83559	.	.	ENSG00000184787	ENST00000345496	T	0.38722	1.12	5.52	5.52	0.82312	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.60805	0.2297	M	0.79693	2.465	0.80722	D	1	D	0.60160	0.987	P	0.55999	0.789	T	0.61964	-0.6954	10	0.39692	T	0.17	-6.8961	16.3909	0.83537	0.0:0.0:1.0:0.0	.	21	P60604	UB2G2_HUMAN	L	21	ENSP00000338348:P21L	ENSP00000338348:P21L	P	-	2	0	UBE2G2	45032420	1.000000	0.71417	0.976000	0.42696	0.915000	0.54546	5.906000	0.69900	2.595000	0.87683	0.655000	0.94253	CCG		0.269	UBE2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202647.2	NM_182688		12	19	0	0	0	1	0	12	19				
ARNTL2	56938	broad.mit.edu	37	12	27553705	27553705	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr12:27553705A>T	ENST00000266503.5	+	10	1176	c.1158A>T	c.(1156-1158)caA>caT	p.Q386H	ARNTL2_ENST00000546179.1_Missense_Mutation_p.Q349H|ARNTL2_ENST00000311001.5_Missense_Mutation_p.Q372H|ARNTL2_ENST00000395901.2_Missense_Mutation_p.Q349H|ARNTL2_ENST00000261178.5_Missense_Mutation_p.Q338H|ARNTL2_ENST00000542388.1_Missense_Mutation_p.Q301H|ARNTL2_ENST00000544915.1_Missense_Mutation_p.Q352H|RP11-165P7.1_ENST00000500498.2_RNA			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	386	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					ATGTAGATCAAAGGTAAACAT	0.323																																						ENST00000544915.1																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(1054-1056)caA>caT		aryl hydrocarbon receptor nuclear translocator-like 2							59.0	63.0	62.0					12																	27553705		2203	4300	6503	SO:0001583	missense	56938				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:27553705A>T	AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"""Basic helix-loop-helix proteins"""	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.1158A>T	12.37:g.27553705A>T	ENSP00000266503:p.Gln386His					ARNTL2_ENST00000546179.1_Missense_Mutation_p.Q349H|ARNTL2_ENST00000311001.5_Missense_Mutation_p.Q372H|ARNTL2_ENST00000542388.1_Missense_Mutation_p.Q301H|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000261178.5_Missense_Mutation_p.Q338H|ARNTL2_ENST00000266503.5_Missense_Mutation_p.Q386H|ARNTL2_ENST00000395901.2_Missense_Mutation_p.Q349H	p.Q352H	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN			9	1275	+	Colorectal(261;0.0847)|Lung SC(9;0.184)		386					B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Missense_Mutation	SNP	ENST00000266503.5	37	c.1056A>T	CCDS8712.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.67|17.67	3.447454|3.447454	0.63178|0.63178	.|.	.|.	ENSG00000029153|ENSG00000029153	ENST00000457040|ENST00000544915;ENST00000395901;ENST00000546179;ENST00000311001;ENST00000261178;ENST00000266503;ENST00000542388	.|T;T;T;T;T;T;T	.|0.18016	.|2.24;2.24;2.24;2.24;2.24;2.24;2.24	4.05|4.05	0.325|0.325	0.15903|0.15903	.|PAS fold-3 (1);PAS (3);	.|0.201056	.|0.44097	.|D	.|0.000491	T|T	0.27832|0.27832	0.0685|0.0685	L|L	0.46157|0.46157	1.445|1.445	0.58432|0.58432	D|D	0.999993|0.999993	.|D;D;P;P;D;P	.|0.89917	.|0.999;1.0;0.773;0.773;1.0;0.893	.|D;D;P;P;D;P	.|0.79108	.|0.975;0.992;0.586;0.586;0.983;0.903	T|T	0.00756|0.00756	-1.1579|-1.1579	5|10	.|0.40728	.|T	.|0.16	.|.	8.5166|8.5166	0.33250|0.33250	0.4361:0.0:0.5639:0.0|0.4361:0.0:0.5639:0.0	.|.	.|349;352;349;338;372;386	.|F5H402;Q8WYA1-5;Q8WYA1-3;Q8WYA1-4;Q8WYA1-2;Q8WYA1	.|.;.;.;.;.;BMAL2_HUMAN	I|H	338|352;349;349;372;338;386;301	.|ENSP00000442438:Q352H;ENSP00000379238:Q349H;ENSP00000438545:Q349H;ENSP00000312247:Q372H;ENSP00000261178:Q338H;ENSP00000266503:Q386H;ENSP00000445836:Q301H	.|ENSP00000261178:Q338H	K|Q	+|+	2|3	0|2	ARNTL2|ARNTL2	27444972|27444972	0.945000|0.945000	0.32115|0.32115	0.992000|0.992000	0.48379|0.48379	0.993000|0.993000	0.82548|0.82548	0.274000|0.274000	0.18680|0.18680	-0.030000|-0.030000	0.13804|0.13804	0.533000|0.533000	0.62120|0.62120	AAA|CAA		0.323	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403162.1	NM_020183		21	20	0	0	0	1	0	21	20				
WDR54	84058	broad.mit.edu	37	2	74652340	74652340	+	Silent	SNP	G	G	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr2:74652340G>A	ENST00000348227.4	+	8	862	c.774G>A	c.(772-774)ctG>ctA	p.L258L	WDR54_ENST00000461531.1_3'UTR|WDR54_ENST00000409791.1_Silent_p.L206L	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	258										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						TCTGCGCCCTGGACCTGGCTT	0.527																																						ENST00000348227.4																			0				breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						c.(772-774)ctG>ctA		WD repeat domain 54							96.0	95.0	96.0					2																	74652340		2203	4300	6503	SO:0001819	synonymous_variant	84058							g.chr2:74652340G>A	AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"""WD repeat domain containing"""	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951	ENST00000348227.4:c.774G>A	2.37:g.74652340G>A						WDR54_ENST00000409791.1_Silent_p.L206L|WDR54_ENST00000461531.1_3'UTR	p.L258L	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN			8	862	+			258					D6W5I3|Q53H85|Q86V45	Silent	SNP	ENST00000348227.4	37	c.774G>A	CCDS1940.1																																																																																				0.527	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252213.1	NM_032118		34	61	0	0	0	1	0	34	61				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			9	26	0	0	0	1	0	9	26				
CCDC149	91050	broad.mit.edu	37	4	24875312	24875312	+	Silent	SNP	T	T	C			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr4:24875312T>C	ENST00000389609.4	-	4	398	c.255A>G	c.(253-255)aaA>aaG	p.K85K	CCDC149_ENST00000504487.1_Silent_p.K85K|CCDC149_ENST00000502801.1_Silent_p.K85K|CCDC149_ENST00000428116.2_Silent_p.K30K	NM_173463.4	NP_775734.2	Q6ZUS6	CC149_HUMAN	coiled-coil domain containing 149	30										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				CCTGTTTCCTTTTTTCAGGAG	0.343																																						ENST00000504487.1																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7						c.(253-255)aaA>aaG		coiled-coil domain containing 149							76.0	80.0	78.0					4																	24875312		2203	4300	6503	SO:0001819	synonymous_variant	91050							g.chr4:24875312T>C		CCDS33967.1, CCDS47036.1, CCDS33967.2	4p15.2	2008-03-03				ENSG00000181982			25405	protein-coding gene	gene with protein product						17457313	Standard	NM_173463		Approved	DKFZp761B107	uc003grc.3	Q6ZUS6		ENST00000389609.4:c.255A>G	4.37:g.24875312T>C						CCDC149_ENST00000502801.1_Silent_p.K85K|CCDC149_ENST00000428116.2_Silent_p.K30K|CCDC149_ENST00000389609.4_Silent_p.K85K	p.K85K	NM_001130726.2	NP_001124198.1	B4DZG3	B4DZG3_HUMAN			3	261	-		Breast(46;0.173)	85					A6NJE7|B4DK90|B4DZG3|G5EA04|Q6NW41|Q8N3K8	Silent	SNP	ENST00000389609.4	37	c.255A>G	CCDS33967.2	.	.	.	.	.	.	.	.	.	.	T	9.298	1.052289	0.19827	.	.	ENSG00000181982	ENST00000382116	.	.	.	5.4	3.57	0.40892	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.9322	0.35677	0.0:0.8104:0.0:0.1896	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC149	24484410	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	0.806000	0.27126	1.325000	0.45301	0.519000	0.50382	.		0.343	CCDC149-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360157.1	NM_173463		7	9	0	0	0	1	0	7	9				
RAVER2	55225	broad.mit.edu	37	1	65268729	65268729	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr1:65268729G>T	ENST00000294428.3	+	6	1254	c.1176G>T	c.(1174-1176)ttG>ttT	p.L392F	RAVER2_ENST00000371072.4_Missense_Mutation_p.L392F|RAVER2_ENST00000430964.2_Missense_Mutation_p.L98F			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	392						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L392F(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						TTTTACATTTGAATAAAGCAC	0.323																																						ENST00000294428.3																			1	Substitution - Missense(1)	p.L392F(1)	breast(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						c.(1174-1176)ttG>ttT		ribonucleoprotein, PTB-binding 2							104.0	99.0	100.0					1																	65268729		1848	4103	5951	SO:0001583	missense	55225					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr1:65268729G>T	AB046799	CCDS41345.1	1p31.3	2013-02-12			ENSG00000162437	ENSG00000162437		"""RNA binding motif (RRM) containing"""	25577	protein-coding gene	gene with protein product		609953				16051233	Standard	NM_018211		Approved	KIAA1579, FLJ10770	uc001dbs.2	Q9HCJ3	OTTHUMG00000009102	ENST00000294428.3:c.1176G>T	1.37:g.65268729G>T	ENSP00000294428:p.Leu392Phe					RAVER2_ENST00000430964.2_Missense_Mutation_p.L98F|RAVER2_ENST00000371072.4_Missense_Mutation_p.L392F	p.L392F			Q9HCJ3	RAVR2_HUMAN			6	1254	+			392					Q6P141|Q9NPV7	Missense_Mutation	SNP	ENST00000294428.3	37	c.1176G>T		.	.	.	.	.	.	.	.	.	.	G	7.347	0.622122	0.14193	.	.	ENSG00000162437	ENST00000371072;ENST00000294428;ENST00000430964	T;T	0.47528	0.9;0.84	5.67	2.72	0.32119	.	0.279835	0.34200	N	0.004172	T	0.17109	0.0411	L	0.31752	0.955	0.38976	D	0.958851	B;B	0.24368	0.061;0.102	B;B	0.27380	0.036;0.079	T	0.03910	-1.0993	10	0.29301	T	0.29	-15.093	9.3352	0.38045	0.0746:0.2834:0.642:0.0	.	392;392	Q9HCJ3;Q9HCJ3-2	RAVR2_HUMAN;.	F	392;392;98	ENSP00000360112:L392F;ENSP00000294428:L392F	ENSP00000294428:L392F	L	+	3	2	RAVER2	65041317	1.000000	0.71417	0.804000	0.32291	0.003000	0.03518	3.148000	0.50647	0.303000	0.22785	-0.179000	0.13096	TTG		0.323	RAVER2-201	KNOWN	basic	protein_coding	protein_coding		NM_018211		10	54	1	0	7.03913e-09	1	7.51636e-09	10	54				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs113017032	byFrequency	TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TGGGACTGAGAGGCAAGATTT	0.438													A|||	16	0.00319489	0.003	0.0029	5008	,	,		21762	0.0		0.003	False		,,,				2504	0.0072					ENST00000376797.3																			0																																																			0							g.chr6:29977342A>T	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977342A>T						ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		3	36	0	0	0	1	0	3	36				
ZNF385D	79750	broad.mit.edu	37	3	21606071	21606071	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr3:21606071A>G	ENST00000281523.2	-	3	789	c.271T>C	c.(271-273)Tct>Cct	p.S91P	ZNF385D_ENST00000494118.1_5'UTR|ZNF385D-AS1_ENST00000412369.1_RNA	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	91						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CTTACATCAGAATTAAATCTC	0.343																																						ENST00000281523.2																			0				NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						c.(271-273)Tct>Cct		zinc finger protein 385D							123.0	122.0	122.0					3																	21606071		2203	4300	6503	SO:0001583	missense	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21606071A>G	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.271T>C	3.37:g.21606071A>G	ENSP00000281523:p.Ser91Pro					ZNF385D_ENST00000494118.1_5'UTR|ZNF385D-AS1_ENST00000412369.1_RNA	p.S91P	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN			3	789	-			91						Missense_Mutation	SNP	ENST00000281523.2	37	c.271T>C	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.680883	0.88542	.	.	ENSG00000151789	ENST00000281523	T	0.42131	0.98	5.73	5.73	0.89815	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.66557	0.2801	M	0.77103	2.36	0.49483	D	0.999798	D	0.76494	0.999	D	0.85130	0.997	T	0.70753	-0.4786	10	0.72032	D	0.01	-1.1591	16.0241	0.80528	1.0:0.0:0.0:0.0	.	91	Q9H6B1	Z385D_HUMAN	P	91	ENSP00000281523:S91P	ENSP00000281523:S91P	S	-	1	0	ZNF385D	21581075	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.336000	0.96533	2.193000	0.70182	0.459000	0.35465	TCT		0.343	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		3	38	0	0	0	1	0	3	38				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522727	95522727	+	RNA	SNP	C	C	A	rs201214605		TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr2:95522727C>A	ENST00000432432.2	-	0	300					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.R64L(2)									CTGCTTGTCCCGGGCGTCCAG	0.731																																						ENST00000432432.2																			2	Substitution - Missense(2)	p.R64L(2)	lung(1)|kidney(1)																																																0							g.chr2:95522727C>A			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522727C>A								NR_040113.1						0	300	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.731	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			3	39	1	0	0.00116845	1	0.00120676	3	39				
SMARCC1	6599	broad.mit.edu	37	3	47704025	47704025	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr3:47704025T>C	ENST00000254480.5	-	20	2076	c.1957A>G	c.(1957-1959)Act>Gct	p.T653A	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	653	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TCATCCTGAGTACGACTTCCA	0.458																																						ENST00000254480.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(1957-1959)Act>Gct		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1							112.0	100.0	104.0					3																	47704025		2203	4300	6503	SO:0001583	missense	6599				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	g.chr3:47704025T>C	U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.1957A>G	3.37:g.47704025T>C	ENSP00000254480:p.Thr653Ala					SMARCC1_ENST00000425518.1_5'UTR	p.T653A	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	20	2076	-			653			SANT.		Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	ENST00000254480.5	37	c.1957A>G	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.050501	0.75960	.	.	ENSG00000173473	ENST00000254480	T	0.60548	0.18	5.04	3.85	0.44370	Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);SANT, eukarya (1);	0.048997	0.85682	D	0.000000	T	0.73118	0.3546	M	0.92459	3.31	0.80722	D	1	P	0.36171	0.541	P	0.46885	0.53	T	0.76069	-0.3094	10	0.87932	D	0	-21.8694	10.5888	0.45298	0.1445:0.0:0.0:0.8555	.	653	Q92922	SMRC1_HUMAN	A	653	ENSP00000254480:T653A	ENSP00000254480:T653A	T	-	1	0	SMARCC1	47679029	1.000000	0.71417	0.953000	0.39169	0.992000	0.81027	7.844000	0.86867	0.832000	0.34804	-0.468000	0.05107	ACT		0.458	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1			3	37	0	0	0	1	0	3	37				
ADH7	131	broad.mit.edu	37	4	100349018	100349018	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr4:100349018T>A	ENST00000209665.4	-	5	752	c.512A>T	c.(511-513)aAg>aTg	p.K171M	ADH7_ENST00000476959.1_Missense_Mutation_p.K179M|ADH7_ENST00000437033.2_Missense_Mutation_p.K159M|ADH7_ENST00000482593.1_Missense_Mutation_p.K102M	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	171					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		ATCATCAATCTTAGCAACAGA	0.463																																						ENST00000437033.2																			0				breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19						c.(475-477)aAg>aTg		alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	NADH(DB00157)						219.0	176.0	191.0					4																	100349018		2203	4300	6503	SO:0001583	missense	131				ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity	g.chr4:100349018T>A	X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"""Alcohol dehydrogenases"""	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.512A>T	4.37:g.100349018T>A	ENSP00000209665:p.Lys171Met					ADH7_ENST00000209665.4_Missense_Mutation_p.K171M|ADH7_ENST00000476959.1_Missense_Mutation_p.K179M|ADH7_ENST00000482593.1_Missense_Mutation_p.K102M	p.K159M			P40394	ADH7_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	5	979	-			171					A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Missense_Mutation	SNP	ENST00000209665.4	37	c.476A>T	CCDS34034.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.932349	0.73442	.	.	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000482593;ENST00000476959;ENST00000474027	T;T;T;T;T	0.04551	3.6;3.6;3.6;3.6;3.6	4.81	3.63	0.41609	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.046452	0.85682	D	0.000000	T	0.28764	0.0713	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.20207	-1.0282	10	0.87932	D	0	-21.9699	10.3936	0.44188	0.0:0.077:0.0:0.923	.	171	P40394	ADH7_HUMAN	M	159;171;102;179;102	ENSP00000414254:K159M;ENSP00000209665:K171M;ENSP00000420613:K102M;ENSP00000420269:K179M;ENSP00000420300:K102M	ENSP00000209665:K171M	K	-	2	0	ADH7	100568041	1.000000	0.71417	0.004000	0.12327	0.113000	0.19764	4.351000	0.59398	0.877000	0.35895	0.533000	0.62120	AAG		0.463	ADH7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000673		7	49	0	0	0	1	0	7	49				
ANKRD30B	374860	broad.mit.edu	37	18	14779986	14779986	+	Missense_Mutation	SNP	G	G	A	rs76927023		TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr18:14779986G>A	ENST00000358984.4	+	11	1628	c.1448G>A	c.(1447-1449)cGa>cAa	p.R483Q	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.R483Q	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	483										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GAATCCAAACGAGAGGAAGAT	0.284																																						ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(1447-1449)cGa>cAa		ankyrin repeat domain 30B							169.0	160.0	163.0					18																	14779986		692	1591	2283	SO:0001583	missense	374860							g.chr18:14779986G>A	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.1448G>A	18.37:g.14779986G>A	ENSP00000351875:p.Arg483Gln					ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.R483Q	p.R483Q	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			11	1628	+			483					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.1448G>A	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	0.006	-2.092170	0.00364	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.36520	1.51;1.25	1.69	0.451	0.16629	.	.	.	.	.	T	0.09905	0.0243	N	0.00926	-1.1	0.09310	N	1	B	0.23854	0.092	B	0.08055	0.003	T	0.28138	-1.0053	9	0.22109	T	0.4	.	3.9288	0.09275	0.7996:0.0:0.2004:0.0	.	483	F8WAG3	.	Q	483	ENSP00000351875:R483Q;ENSP00000399031:R483Q	ENSP00000351875:R483Q	R	+	2	0	ANKRD30B	14769986	0.999000	0.42202	0.002000	0.10522	0.094000	0.18550	1.139000	0.31504	0.127000	0.18452	-1.326000	0.01283	CGA		0.284	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		4	10	0	0	0	1	0	4	10				
RNF145	153830	broad.mit.edu	37	5	158601111	158601111	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr5:158601111A>C	ENST00000424310.2	-	6	1036	c.677T>G	c.(676-678)gTa>gGa	p.V226G	RNF145_ENST00000519865.1_Missense_Mutation_p.V226G|RNF145_ENST00000520638.1_Missense_Mutation_p.V240G|RNF145_ENST00000274542.2_Missense_Mutation_p.V254G|RNF145_ENST00000521606.2_Missense_Mutation_p.V243G|RNF145_ENST00000518802.1_Missense_Mutation_p.V256G	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	226						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AACAGGGACTACCAGTTGATT	0.433																																						ENST00000424310.2																			0				endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(676-678)gTa>gGa		ring finger protein 145							79.0	71.0	74.0					5																	158601111		2203	4300	6503	SO:0001583	missense	153830					integral to membrane	zinc ion binding	g.chr5:158601111A>C	BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.677T>G	5.37:g.158601111A>C	ENSP00000409064:p.Val226Gly					RNF145_ENST00000521606.2_Missense_Mutation_p.V243G|RNF145_ENST00000520638.1_Missense_Mutation_p.V240G|RNF145_ENST00000518802.1_Missense_Mutation_p.V256G|RNF145_ENST00000274542.2_Missense_Mutation_p.V254G|RNF145_ENST00000519865.1_Missense_Mutation_p.V226G	p.V226G	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		6	1036	-	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	226					B7Z903|B7Z949|E7EVI7|Q8IVP7	Missense_Mutation	SNP	ENST00000424310.2	37	c.677T>G	CCDS56390.1	.	.	.	.	.	.	.	.	.	.	A	17.89	3.499087	0.64298	.	.	ENSG00000145860	ENST00000274542;ENST00000519865;ENST00000424310;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000535312;ENST00000520638	T;T;T;T;T;T;T	0.76839	-1.05;-1.04;-1.04;-1.04;-1.04;-1.05;-1.04	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.62502	0.2433	N	0.08118	0	0.80722	D	1	P;P;P;P;P;P	0.44877	0.81;0.81;0.81;0.81;0.845;0.774	B;B;B;B;B;B	0.43331	0.339;0.339;0.339;0.339;0.416;0.229	T	0.63207	-0.6689	10	0.18710	T	0.47	-12.9464	15.4247	0.75041	1.0:0.0:0.0:0.0	.	242;243;240;256;226;254	E7EW26;B7Z949;B7Z903;E7EVI7;Q96MT1;Q96MT1-2	.;.;.;.;RN145_HUMAN;.	G	254;226;226;242;243;256;226;240	ENSP00000274542:V254G;ENSP00000430397:V226G;ENSP00000409064:V226G;ENSP00000430753:V242G;ENSP00000445115:V243G;ENSP00000430955:V256G;ENSP00000429071:V240G	ENSP00000274542:V254G	V	-	2	0	RNF145	158533689	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.287000	0.95975	2.106000	0.64143	0.455000	0.32223	GTA		0.433	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		7	17	0	0	0	1	0	7	17				
DCHS2	54798	broad.mit.edu	37	4	155241554	155241554	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr4:155241554G>A	ENST00000357232.4	-	14	3631	c.3632C>T	c.(3631-3633)aCg>aTg	p.T1211M		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1211	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TAGCATAAACGTCATGTTTTC	0.408																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(3631-3633)aCg>aTg		dachsous cadherin-related 2							189.0	167.0	175.0					4																	155241554		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155241554G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3632C>T	4.37:g.155241554G>A	ENSP00000349768:p.Thr1211Met						p.T1211M	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	14	3631	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1211			Cadherin 10.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.3632C>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	2.520	-0.310966	0.05458	.	.	ENSG00000197410	ENST00000357232	T	0.51574	0.7	5.56	2.88	0.33553	Cadherin (4);Cadherin-like (1);	0.831797	0.10808	N	0.631864	T	0.25306	0.0615	N	0.05592	-0.015	0.20703	N	0.999866	B	0.24721	0.11	B	0.20184	0.028	T	0.18745	-1.0327	10	0.44086	T	0.13	.	5.1624	0.15068	0.3043:0.1393:0.5565:0.0	.	1211	Q6V1P9	PCD23_HUMAN	M	1211	ENSP00000349768:T1211M	ENSP00000349768:T1211M	T	-	2	0	DCHS2	155461004	0.411000	0.25384	0.066000	0.19879	0.226000	0.24999	0.950000	0.29122	0.296000	0.22592	0.467000	0.42956	ACG		0.408	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		22	46	0	0	0	1	0	22	46				
ATRX	546	broad.mit.edu	37	X	76938920	76938920	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chrX:76938920G>A	ENST00000373344.5	-	9	2042	c.1828C>T	c.(1828-1830)Caa>Taa	p.Q610*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.Q572*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	610					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TCTTTATCTTGTGGAACTTCC	0.358			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(1828-1830)Caa>Taa		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						194.0	219.0	210.0					X																	76938920		2203	4296	6499	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938920G>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1828C>T	X.37:g.76938920G>A	ENSP00000362441:p.Gln610*					ATRX_ENST00000395603.3_Nonsense_Mutation_p.Q572*|ATRX_ENST00000480283.1_5'UTR	p.Q610*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2042	-			610					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.1828C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	g	38	7.234536	0.98154	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.22	5.22	0.72569	.	0.177625	0.42294	D	0.000735	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-3.8042	8.6155	0.33829	0.0:0.2207:0.6378:0.1415	.	.	.	.	X	610;572;537	.	ENSP00000362441:Q610X	Q	-	1	0	ATRX	76825576	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.691000	0.47010	2.177000	0.69029	0.509000	0.49947	CAA		0.358	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		102	36	0	0	0	1	0	102	36				
NUP188	23511	broad.mit.edu	37	9	131768629	131768629	+	Silent	SNP	G	G	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr9:131768629G>A	ENST00000372577.2	+	43	5076	c.5055G>A	c.(5053-5055)caG>caA	p.Q1685Q	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1685					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GGATGAAGCAGGAGCTCAGCT	0.592											OREG0019528	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372577.2																			0				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.(5053-5055)caG>caA		nucleoporin 188kDa							115.0	126.0	122.0					9																	131768629		2203	4300	6503	SO:0001819	synonymous_variant	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131768629G>A	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.5055G>A	9.37:g.131768629G>A			OREG0019528	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1590		p.Q1685Q	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			43	5076	+			1685					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	ENST00000372577.2	37	c.5055G>A	CCDS35156.1																																																																																				0.592	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			22	237	0	0	0	1	0	22	237				
AQP10	89872	broad.mit.edu	37	1	154295506	154295506	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr1:154295506G>A	ENST00000324978.3	+	3	321	c.281G>A	c.(280-282)cGc>cAc	p.R94H	ATP8B2_ENST00000368487.3_5'Flank|AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000484864.1_Missense_Mutation_p.R94H	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	94					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ATCGTTGGACGCCTCCCCTGG	0.532																																						ENST00000484864.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(280-282)cGc>cAc		aquaporin 10							143.0	133.0	136.0					1																	154295506		2203	4300	6503	SO:0001583	missense	89872				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	g.chr1:154295506G>A	AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"""Ion channels / Aquaporins"""	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.281G>A	1.37:g.154295506G>A	ENSP00000318355:p.Arg94His					AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000324978.3_Missense_Mutation_p.R94H	p.R94H			Q96PS8	AQP10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		3	317	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		94					Q5VYD3|Q5VYD4|Q8NG70	Missense_Mutation	SNP	ENST00000324978.3	37	c.281G>A	CCDS1065.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.692803	0.48202	.	.	ENSG00000143595	ENST00000324978;ENST00000484864	D;D	0.85702	-2.02;-2.02	5.04	3.17	0.36434	Aquaporin-like (2);	0.056466	0.64402	N	0.000002	T	0.67878	0.2940	L	0.54965	1.715	0.31293	N	0.689225	B;B	0.31383	0.321;0.141	B;B	0.29663	0.105;0.019	T	0.61758	-0.6997	10	0.49607	T	0.09	.	8.6313	0.33922	0.251:0.0:0.749:0.0	.	94;94	Q96PS8-2;Q96PS8	.;AQP10_HUMAN	H	94	ENSP00000318355:R94H;ENSP00000420341:R94H	ENSP00000318355:R94H	R	+	2	0	AQP10	152562130	0.014000	0.17966	0.978000	0.43139	0.956000	0.61745	2.016000	0.40971	0.728000	0.32382	0.555000	0.69702	CGC		0.532	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429		9	82	0	0	0	1	0	9	82				
ARID1B	57492	broad.mit.edu	37	6	157522460	157522460	+	Missense_Mutation	SNP	A	A	G	rs139214813		TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr6:157522460A>G	ENST00000350026.5	+	17	4694	c.4693A>G	c.(4693-4695)Atg>Gtg	p.M1565V	ARID1B_ENST00000275248.4_Missense_Mutation_p.M1560V|ARID1B_ENST00000367148.1_Missense_Mutation_p.M1618V|ARID1B_ENST00000346085.5_Missense_Mutation_p.M1578V	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1565	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCTGCCGTCTATGAAGATGCA	0.602																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(4732-4734)Atg>Gtg		AT rich interactive domain 1B (SWI1-like)		A	VAL/MET,VAL/MET	0,4406		0,0,2203	117.0	114.0	115.0		4693,4732	2.5	0.5	6	dbSNP_134	115	1,8591	1.2+/-3.3	0,1,4295	no	missense,missense	ARID1B	NM_017519.2,NM_020732.3	21,21	0,1,6498	GG,GA,AA		0.0116,0.0,0.0077	benign,benign	1565/2237,1578/2250	157522460	1,12997	2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157522460A>G	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4693A>G	6.37:g.157522460A>G	ENSP00000055163:p.Met1565Val					ARID1B_ENST00000367148.1_Missense_Mutation_p.M1618V|ARID1B_ENST00000350026.5_Missense_Mutation_p.M1565V|ARID1B_ENST00000275248.4_Missense_Mutation_p.M1560V	p.M1578V	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	18	4733	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1565			Pro-rich.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.4732A>G	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	A	9.758	1.169210	0.21621	0.0	1.16E-4	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02103	4.78;4.78;4.78;4.79;4.45	4.94	2.54	0.30619	.	0.122448	0.64402	D	0.000001	T	0.00967	0.0032	L	0.46157	1.445	0.35454	D	0.795924	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.001;0.002;0.002	T	0.44345	-0.9334	10	0.66056	D	0.02	.	7.6473	0.28327	0.776:0.1498:0.0742:0.0	.	1565;1578;1560	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	V	1578;1565;1618;1560;1087	ENSP00000344546:M1578V;ENSP00000055163:M1565V;ENSP00000356116:M1618V;ENSP00000275248:M1560V;ENSP00000412835:M1087V	ENSP00000275248:M1560V	M	+	1	0	ARID1B	157564152	1.000000	0.71417	0.469000	0.27204	0.865000	0.49528	4.685000	0.61693	0.331000	0.23511	0.533000	0.62120	ATG		0.602	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		6	126	0	0	0	1	0	6	126				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72664015	72664015	+	RNA	SNP	C	C	G	rs202030378|rs372212945	byFrequency	TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr7:72664015C>G	ENST00000425256.1	-	0	885									GTF2I repeat domain containing 2 pseudogene 1																		ATACCACCCCCGGGGCATGCC	0.507																																						ENST00000425256.1																			0																																																			0							g.chr7:72664015C>G	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72664015C>G								NR_002164.1						0	885	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.507	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		3	15	0	0	0	1	0	3	15				
HK1	3098	broad.mit.edu	37	10	71160766	71160766	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr10:71160766C>T	ENST00000359426.6	+	18	2733	c.2629C>T	c.(2629-2631)Cag>Tag	p.Q877*	HK1_ENST00000404387.2_Nonsense_Mutation_p.Q881*|HK1_ENST00000448642.2_Nonsense_Mutation_p.Q912*|HK1_ENST00000360289.2_Nonsense_Mutation_p.Q865*|HK1_ENST00000298649.3_Nonsense_Mutation_p.Q876*	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	877	Catalytic.|Hexokinase type-2 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						AATCATGCACCAGACGGTGAA	0.552																																						ENST00000448642.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						c.(2734-2736)Cag>Tag		hexokinase 1							91.0	84.0	86.0					10																	71160766		2203	4300	6503	SO:0001587	stop_gained	3098				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	g.chr10:71160766C>T	M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.2629C>T	10.37:g.71160766C>T	ENSP00000352398:p.Gln877*					HK1_ENST00000404387.2_Nonsense_Mutation_p.Q881*|HK1_ENST00000359426.6_Nonsense_Mutation_p.Q877*|HK1_ENST00000298649.3_Nonsense_Mutation_p.Q876*|HK1_ENST00000360289.2_Nonsense_Mutation_p.Q865*	p.Q912*			P19367	HXK1_HUMAN			23	3123	+			877			Catalytic.		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Nonsense_Mutation	SNP	ENST00000359426.6	37	c.2734C>T	CCDS7292.1	.	.	.	.	.	.	.	.	.	.	C	44	10.573930	0.99430	.	.	ENSG00000156515	ENST00000360289;ENST00000448642;ENST00000404387;ENST00000298649;ENST00000359426;ENST00000405407	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-17.9209	20.3681	0.98887	0.0:1.0:0.0:0.0	.	.	.	.	X	865;912;881;876;877;877	.	ENSP00000298649:Q876X	Q	+	1	0	HK1	70830772	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.623000	0.61247	2.890000	0.99128	0.655000	0.94253	CAG		0.552	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	NM_000188		21	43	0	0	0	1	0	21	43				
CRTC2	200186	broad.mit.edu	37	1	153924630	153924630	+	Silent	SNP	C	C	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr1:153924630C>A	ENST00000368633.1	-	10	988	c.861G>T	c.(859-861)ctG>ctT	p.L287L	CRTC2_ENST00000476883.1_5'Flank|CRTC2_ENST00000368630.3_Intron	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	287					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGGGGGTGGGCAGTGGTGGGG	0.612																																						ENST00000368633.1																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27						c.(859-861)ctG>ctT		CREB regulated transcription coactivator 2							71.0	75.0	74.0					1																	153924630		2203	4300	6503	SO:0001819	synonymous_variant	200186				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:153924630C>A	AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.861G>T	1.37:g.153924630C>A						CRTC2_ENST00000368630.3_Intron	p.L287L	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		10	988	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		287					Q6UUV8|Q7Z3X7|Q8N332	Silent	SNP	ENST00000368633.1	37	c.861G>T	CCDS30875.1																																																																																				0.612	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090272.3	NM_181715		4	97	1	0	0.00909568	1	0.00924238	4	97				
PIGS	94005	broad.mit.edu	37	17	26890508	26890508	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr17:26890508G>T	ENST00000308360.7	-	5	784	c.409C>A	c.(409-411)Caa>Aaa	p.Q137K	PIGS_ENST00000543734.1_Missense_Mutation_p.Q76K|PIGS_ENST00000465444.1_5'UTR|PIGS_ENST00000395346.2_Missense_Mutation_p.Q129K	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	137					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CCCTCCGCTTGTTCCTGAGGC	0.527																																						ENST00000308360.7																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(409-411)Caa>Aaa		phosphatidylinositol glycan anchor biosynthesis, class S							129.0	103.0	112.0					17																	26890508		2203	4300	6503	SO:0001583	missense	94005				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr17:26890508G>T		CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"""Phosphatidylinositol glycan anchor biosynthesis"""	14937	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610271	"""phosphatidylinositol glycan, class S"""				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.409C>A	17.37:g.26890508G>T	ENSP00000309430:p.Gln137Lys					PIGS_ENST00000395346.2_Missense_Mutation_p.Q129K|PIGS_ENST00000543734.1_Missense_Mutation_p.Q76K|PIGS_ENST00000465444.1_5'UTR	p.Q137K	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN			5	784	-	Lung NSC(42;0.00431)		137					Q6UVX6	Missense_Mutation	SNP	ENST00000308360.7	37	c.409C>A	CCDS11235.1	.	.	.	.	.	.	.	.	.	.	G	1.872	-0.460049	0.04508	.	.	ENSG00000087111	ENST00000395346;ENST00000308360;ENST00000543734	T;T;T	0.41758	0.99;0.99;0.99	4.93	2.81	0.32909	.	0.513584	0.21682	N	0.070706	T	0.22085	0.0532	L	0.36672	1.1	0.09310	N	1	B;B	0.15719	0.014;0.011	B;B	0.18561	0.022;0.013	T	0.32134	-0.9918	10	0.06099	T	0.92	-9.2285	1.5845	0.02641	0.1606:0.1857:0.4615:0.1921	.	137;129	Q96S52;Q96S52-2	PIGS_HUMAN;.	K	129;137;76	ENSP00000378755:Q129K;ENSP00000309430:Q137K;ENSP00000438447:Q76K	ENSP00000309430:Q137K	Q	-	1	0	PIGS	23914635	0.001000	0.12720	0.156000	0.22583	0.671000	0.39405	0.198000	0.17217	2.437000	0.82529	0.467000	0.42956	CAA		0.527	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3	NM_033198		21	34	1	0	1.55795e-14	1	1.75269e-14	21	34				
PCDHAC2	56134	broad.mit.edu	37	5	140347873	140347873	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr5:140347873C>T	ENST00000289269.5	+	1	2054	c.1522C>T	c.(1522-1524)Ctt>Ttt	p.L508F	PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	508	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCTACTCCCTTCTGGAGAG	0.488																																					Melanoma(190;638 2083 3390 11909 52360)	ENST00000289269.5																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1522-1524)Ctt>Ttt									100.0	95.0	97.0					5																	140347873		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140347873C>T	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1522C>T	5.37:g.140347873C>T	ENSP00000289269:p.Leu508Phe					PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000253807.2_Intron	p.L508F	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2054	+			508			Cadherin 5.		Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	ENST00000289269.5	37	c.1522C>T	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.321963	0.41096	.	.	ENSG00000243232	ENST00000289269	T	0.55930	0.49	6.02	4.24	0.50183	Cadherin (4);Cadherin-like (1);	0.000000	0.37857	N	0.001912	T	0.63319	0.2501	L	0.43598	1.365	0.46458	D	0.99905	P;D	0.71674	0.675;0.998	P;D	0.70016	0.535;0.967	T	0.66677	-0.5863	10	0.72032	D	0.01	.	13.189	0.59700	0.0:0.8694:0.0:0.1306	.	508;508	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	F	508	ENSP00000289269:L508F	ENSP00000289269:L508F	L	+	1	0	PCDHAC2	140328057	0.081000	0.21417	1.000000	0.80357	0.916000	0.54674	0.132000	0.15891	1.570000	0.49709	-0.136000	0.14681	CTT		0.488	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		4	97	0	0	0	1	0	4	97				
FAAH2	158584	broad.mit.edu	37	X	57358192	57358192	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chrX:57358192C>T	ENST00000374900.4	+	4	694	c.574C>T	c.(574-576)Cga>Tga	p.R192*		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	192						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GATCTATGGCCGATCAAACAA	0.403										HNSCC(52;0.14)																												ENST00000374900.4																			0				endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						c.(574-576)Cga>Tga		fatty acid amide hydrolase 2							182.0	142.0	156.0					X																	57358192		2203	4300	6503	SO:0001587	stop_gained	158584					integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity	g.chrX:57358192C>T	AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"""amidase domain containing"""	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.574C>T	X.37:g.57358192C>T	ENSP00000364035:p.Arg192*	HNSCC(52;0.14)					p.R192*	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN			4	694	+			192					Q86VT2|Q96N98	Nonsense_Mutation	SNP	ENST00000374900.4	37	c.574C>T	CCDS14375.1	.	.	.	.	.	.	.	.	.	.	c	13.59	2.282203	0.40394	.	.	ENSG00000165591	ENST00000374900	.	.	.	2.25	-2.01	0.07410	.	0.290091	0.25783	U	0.028337	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.2814	0.10834	0.4896:0.3684:0.0:0.1419	.	.	.	.	X	192	.	ENSP00000364035:R192X	R	+	1	2	FAAH2	57374917	0.895000	0.30542	0.732000	0.30844	0.091000	0.18340	0.425000	0.21346	-0.445000	0.07159	-1.888000	0.00539	CGA		0.403	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1	NM_174912		43	12	0	0	0	1	0	43	12				
AKAP13	11214	broad.mit.edu	37	15	86076938	86076938	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr15:86076938T>C	ENST00000394518.2	+	4	400	c.305T>C	c.(304-306)tTc>tCc	p.F102S	AKAP13_ENST00000361243.2_Missense_Mutation_p.F102S|AKAP13_ENST00000560302.1_Missense_Mutation_p.F102S	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	102					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GCAGCTCAATTCCTAGCAACC	0.493																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(304-306)tTc>tCc		A kinase (PRKA) anchor protein 13							144.0	134.0	137.0					15																	86076938		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86076938T>C	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.305T>C	15.37:g.86076938T>C	ENSP00000378026:p.Phe102Ser					AKAP13_ENST00000560302.1_Missense_Mutation_p.F102S|AKAP13_ENST00000361243.2_Missense_Mutation_p.F102S	p.F102S	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			4	400	+			102					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.305T>C	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.424413	0.83667	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.58506	0.33;0.33	5.67	5.67	0.87782	.	.	.	.	.	T	0.70500	0.3231	L	0.46157	1.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	T	0.72643	-0.4231	9	0.66056	D	0.02	.	15.3819	0.74664	0.0:0.0:0.0:1.0	.	102;102;102	Q12802;Q12802-2;Q12802-5	AKP13_HUMAN;.;.	S	102;102;101;101	ENSP00000354718:F102S;ENSP00000378026:F102S	ENSP00000354718:F102S	F	+	2	0	AKAP13	83877942	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	5.461000	0.66699	2.281000	0.76405	0.533000	0.62120	TTC		0.493	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		37	46	0	0	0	1	0	37	46				
YTHDC1	91746	broad.mit.edu	37	4	69189859	69189859	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr4:69189859G>A	ENST00000344157.4	-	10	1767	c.1432C>T	c.(1432-1434)Cag>Tag	p.Q478*	YTHDC1_ENST00000579690.1_Nonsense_Mutation_p.Q478*|YTHDC1_ENST00000355665.3_Nonsense_Mutation_p.Q460*	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	478	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CCACAAACCTGTCCATCACGT	0.353																																						ENST00000344157.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(1432-1434)Cag>Tag		YTH domain containing 1							139.0	139.0	139.0					4																	69189859		2203	4300	6503	SO:0001587	stop_gained	91746							g.chr4:69189859G>A	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.1432C>T	4.37:g.69189859G>A	ENSP00000339245:p.Gln478*					YTHDC1_ENST00000355665.3_Nonsense_Mutation_p.Q460*|YTHDC1_ENST00000579690.1_Nonsense_Mutation_p.Q478*	p.Q478*	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN			10	1767	-			478			YTH.		Q4W5Q3|Q7Z622|Q8TF35	Nonsense_Mutation	SNP	ENST00000344157.4	37	c.1432C>T	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	G	41	8.907815	0.98998	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.1169	0.97940	0.0:0.0:1.0:0.0	.	.	.	.	X	478;460	.	ENSP00000339245:Q478X	Q	-	1	0	YTHDC1	68872454	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.358000	0.97109	2.835000	0.97688	0.591000	0.81541	CAG		0.353	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		6	42	0	0	0	1	0	6	42				
SMARCA4	6597	broad.mit.edu	37	19	11095998	11095998	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr19:11095998A>G	ENST00000429416.3	+	4	553	c.272A>G	c.(271-273)aAc>aGc	p.N91S	SMARCA4_ENST00000358026.2_Missense_Mutation_p.N91S|SMARCA4_ENST00000450717.3_Missense_Mutation_p.N91S|SMARCA4_ENST00000541122.2_Missense_Mutation_p.N91S|SMARCA4_ENST00000589677.1_Missense_Mutation_p.N91S|SMARCA4_ENST00000344626.4_Missense_Mutation_p.N91S|SMARCA4_ENST00000590574.1_Missense_Mutation_p.N91S|SMARCA4_ENST00000444061.3_Missense_Mutation_p.N91S|SMARCA4_ENST00000413806.3_Missense_Mutation_p.N91S	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	91	Necessary for interaction with SS18L1/CREST. {ECO:0000250}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCGCGCTACAACCAGATGAAA	0.632			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(271-273)aAc>aGc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							67.0	61.0	63.0					19																	11095998		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11095998A>G	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.272A>G	19.37:g.11095998A>G	ENSP00000395654:p.Asn91Ser					SMARCA4_ENST00000413806.3_Missense_Mutation_p.N91S|SMARCA4_ENST00000589677.1_Missense_Mutation_p.N91S|SMARCA4_ENST00000541122.2_Missense_Mutation_p.N91S|SMARCA4_ENST00000450717.3_Missense_Mutation_p.N91S|SMARCA4_ENST00000444061.3_Missense_Mutation_p.N91S|SMARCA4_ENST00000429416.3_Missense_Mutation_p.N91S|SMARCA4_ENST00000344626.4_Missense_Mutation_p.N91S|SMARCA4_ENST00000590574.1_Missense_Mutation_p.N91S	p.N91S	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			3	556	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	91			Necessary for interaction with SS18L1/CREST (By similarity).		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.272A>G	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	A	10.21	1.288728	0.23478	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.85556	-2.0;-1.99;-2.0;-1.98;-2.0;-2.0;-1.98	4.78	-2.19	0.07015	.	0.365946	0.29900	N	0.010908	T	0.61311	0.2337	N	0.04508	-0.205	0.21897	N	0.99949	B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.0;0.001;0.0	B;B;B;B;B;B;B	0.04013	0.0;0.0;0.0;0.0;0.0;0.001;0.0	T	0.50750	-0.8791	10	0.16896	T	0.51	-25.9492	7.8438	0.29414	0.4066:0.1313:0.4621:0.0	.	91;91;91;91;91;91;91	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	S	91	ENSP00000395654:N91S;ENSP00000350720:N91S;ENSP00000343896:N91S;ENSP00000445036:N91S;ENSP00000392837:N91S;ENSP00000397783:N91S;ENSP00000414727:N91S	ENSP00000343896:N91S	N	+	2	0	SMARCA4	10956998	0.005000	0.15991	0.896000	0.35187	0.945000	0.59286	0.771000	0.26633	-0.813000	0.04357	-0.250000	0.11733	AAC		0.632	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		15	37	0	0	0	1	0	15	37				
DAP	1611	broad.mit.edu	37	5	10748365	10748365	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr5:10748365C>T	ENST00000230895.6	-	2	277	c.74G>A	c.(73-75)cGa>cAa	p.R25Q	DAP_ENST00000432074.2_Missense_Mutation_p.R25Q|DAP_ENST00000510546.1_5'UTR	NM_004394.2	NP_004385.1	P51397	DAP1_HUMAN	death-associated protein	25					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cellular response to amino acid starvation (GO:0034198)|negative regulation of autophagy (GO:0010507)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)		death domain binding (GO:0070513)	p.R25Q(1)		endometrium(1)|large_intestine(1)|lung(1)	3		Ovarian(839;1.34e-05)|Breast(839;0.0634)|Lung NSC(810;0.0804)				CTGCACAATTCGCATTCCACC	0.502																																						ENST00000230895.6																			1	Substitution - Missense(1)	p.R25Q(1)	large_intestine(1)	endometrium(1)|large_intestine(1)|lung(1)	3						c.(73-75)cGa>cAa		death-associated protein							205.0	164.0	178.0					5																	10748365		2203	4300	6503	SO:0001583	missense	1611				activation of caspase activity|cellular response to amino acid starvation|induction of apoptosis by extracellular signals|negative regulation of autophagy|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent		death domain binding	g.chr5:10748365C>T	X76105	CCDS3880.1	5p15.2	2008-07-18			ENSG00000112977	ENSG00000112977			2672	protein-coding gene	gene with protein product		600954				8530096, 7828849	Standard	NM_004394		Approved		uc003jez.4	P51397	OTTHUMG00000131041	ENST00000230895.6:c.74G>A	5.37:g.10748365C>T	ENSP00000230895:p.Arg25Gln					DAP_ENST00000510546.1_5'UTR|DAP_ENST00000432074.2_Missense_Mutation_p.R25Q	p.R25Q	NM_004394.2	NP_004385.1	P51397	DAP1_HUMAN			2	277	-		Ovarian(839;1.34e-05)|Breast(839;0.0634)|Lung NSC(810;0.0804)	25					Q6FGC3|Q9BUC9	Missense_Mutation	SNP	ENST00000230895.6	37	c.74G>A	CCDS3880.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816953	0.70912	.	.	ENSG00000112977	ENST00000230895;ENST00000432074	T;T	0.61859	0.07;0.07	5.04	3.24	0.37175	.	.	.	.	.	T	0.74558	0.3732	M	0.85099	2.735	0.35460	D	0.79644	D;D	0.89917	0.996;1.0	P;D	0.83275	0.643;0.996	T	0.78999	-0.1982	9	0.87932	D	0	.	7.5169	0.27606	0.1635:0.7504:0.0:0.0861	.	25;25	B4DQ75;P51397	.;DAP1_HUMAN	Q	25	ENSP00000230895:R25Q;ENSP00000394163:R25Q	ENSP00000230895:R25Q	R	-	2	0	DAP	10801365	1.000000	0.71417	0.391000	0.26233	0.951000	0.60555	4.581000	0.60949	0.519000	0.28406	0.655000	0.94253	CGA		0.502	DAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253687.1	NM_004394		14	24	0	0	0	1	0	14	24				
TRGC2	6967	broad.mit.edu	37	7	38289056	38289056	+	RNA	SNP	T	T	C	rs368796657		TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr7:38289056T>C	ENST00000436911.2	-	0	117							P03986	TRGC2_HUMAN	T cell receptor gamma constant 2						immune response (GO:0006955)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)										CTTAATAATATCTGGGAAAAA	0.408																																						ENST00000436911.2																			0															T		0,3622		0,0,1811	217.0	199.0	205.0			3.8	0.2	7		205	1,8145		0,1,4072	no	intergenic				0,1,5883	CC,CT,TT		0.0123,0.0,0.0085			38289056	1,11767	1811	4073	5884			0							g.chr7:38289056T>C	M15002		7p14	2012-02-07			ENSG00000227191	ENSG00000227191		"""T cell receptors / TRG locus"""	12276	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C2"""	615450		TCRGC2		3458221	Standard	NG_001336		Approved	TRGC2(2X), TRGC2(3X)		P03986	OTTHUMG00000155215		7.37:g.38289056T>C														0	117	-									RNA	SNP	ENST00000436911.2	37																																																																																						0.408	TRGC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338821.2	NG_001336		74	93	0	0	0	1	0	74	93				
TAS2R41	259287	broad.mit.edu	37	7	143175752	143175752	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr7:143175752G>A	ENST00000408916.1	+	1	787	c.787G>A	c.(787-789)Gac>Aac	p.D263N	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	263					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CATGCAGAACGACTTTTACTG	0.473																																						ENST00000408916.1																			0				endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18						c.(787-789)Gac>Aac		taste receptor, type 2, member 41							146.0	142.0	143.0					7																	143175752		2046	4190	6236	SO:0001583	missense	259287				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143175752G>A	AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.787G>A	7.37:g.143175752G>A	ENSP00000386201:p.Asp263Asn					EPHA1-AS1_ENST00000429289.1_RNA	p.D263N	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN			1	787	+	Melanoma(164;0.15)		263					P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Missense_Mutation	SNP	ENST00000408916.1	37	c.787G>A	CCDS43663.1	.	.	.	.	.	.	.	.	.	.	G	4.841	0.156291	0.09236	.	.	ENSG00000221855	ENST00000408916	T	0.00717	5.79	6.0	1.62	0.23740	.	1.678960	0.04442	U	0.370990	T	0.01287	0.0042	M	0.63428	1.95	0.09310	N	1	P	0.42692	0.787	B	0.41666	0.363	T	0.51204	-0.8735	10	0.13108	T	0.6	.	5.9125	0.19037	0.1937:0.3006:0.5057:0.0	.	263	P59536	T2R41_HUMAN	N	263	ENSP00000386201:D263N	ENSP00000386201:D263N	D	+	1	0	TAS2R41	142885874	0.000000	0.05858	0.091000	0.20842	0.001000	0.01503	0.164000	0.16542	0.413000	0.25759	-0.176000	0.13171	GAC		0.473	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1			4	67	0	0	0	1	0	4	67				
PPP6C	5537	broad.mit.edu	37	9	127933438	127933438	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr9:127933438C>T	ENST00000373547.4	-	2	196	c.97G>A	c.(97-99)Gac>Aac	p.D33N	PPP6C_ENST00000451402.1_Missense_Mutation_p.D70N|PPP6C_ENST00000415905.1_Missense_Mutation_p.D33N|PPP6C_ENST00000373546.3_5'UTR	NM_002721.4	NP_002712.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	33					G1/S transition of mitotic cell cycle (GO:0000082)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						AAGAGGAGGTCACAAACGTAG	0.328																																						ENST00000451402.1																			0				NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						c.(208-210)Gac>Aac		protein phosphatase 6, catalytic subunit							158.0	150.0	153.0					9																	127933438		2203	4300	6503	SO:0001583	missense	5537				G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr9:127933438C>T	AF035158	CCDS6861.1, CCDS48018.1, CCDS48019.1	9q33.3	2010-03-17			ENSG00000119414	ENSG00000119414		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9323	protein-coding gene	gene with protein product		612725				9143513	Standard	NM_002721		Approved	PP6	uc004bpg.4	O00743	OTTHUMG00000020671	ENST00000373547.4:c.97G>A	9.37:g.127933438C>T	ENSP00000362648:p.Asp33Asn					PPP6C_ENST00000415905.1_Missense_Mutation_p.D33N|PPP6C_ENST00000373546.3_5'UTR|PPP6C_ENST00000373547.4_Missense_Mutation_p.D33N	p.D70N	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN			3	428	-			33					B2R5V6|B7Z2W9|B7Z5K9|Q5U0A2|Q9UIC9	Missense_Mutation	SNP	ENST00000373547.4	37	c.208G>A	CCDS6861.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704634	0.88924	.	.	ENSG00000119414	ENST00000373547;ENST00000451402;ENST00000415905;ENST00000456642	T;T;T;T	0.62788	3.46;3.46;3.46;0.0	5.92	5.92	0.95590	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);	0.000000	0.85682	D	0.000000	T	0.74801	0.3764	M	0.78049	2.395	0.80722	D	1	B;P;B	0.52577	0.38;0.954;0.262	B;P;B	0.51742	0.425;0.678;0.185	T	0.77504	-0.2563	10	0.72032	D	0.01	-30.8606	18.8845	0.92370	0.0:1.0:0.0:0.0	.	33;70;33	O00743-2;O00743-3;O00743	.;.;PPP6_HUMAN	N	33;70;33;21	ENSP00000362648:D33N;ENSP00000392147:D70N;ENSP00000411744:D33N;ENSP00000416287:D21N	ENSP00000362648:D33N	D	-	1	0	PPP6C	126973259	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.882000	0.75589	2.809000	0.96659	0.655000	0.94253	GAC		0.328	PPP6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054060.1	NM_016294		32	49	0	0	0	1	0	32	49				
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	A	rs28934576		TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr17:7577120C>A	ENST00000269305.4	-	8	1007	c.818G>T	c.(817-819)cGt>cTt	p.R273L	TP53_ENST00000455263.2_Missense_Mutation_p.R273L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273L|TP53_ENST00000359597.4_Missense_Mutation_p.R273L|TP53_ENST00000420246.2_Missense_Mutation_p.R273L	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)cGt>cTt	Other conserved DNA damage response genes	tumor protein p53							67.0	58.0	61.0					17																	7577120		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577120C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.818G>T	17.37:g.7577120C>A	ENSP00000269305:p.Arg273Leu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273L|TP53_ENST00000269305.4_Missense_Mutation_p.R273L|TP53_ENST00000359597.4_Missense_Mutation_p.R273L|TP53_ENST00000455263.2_Missense_Mutation_p.R273L	p.R273L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	950	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.818G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554800	0.86231	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99871	0.9939	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.77557	0.988;0.987;0.99;0.986	D	0.96378	0.9279	10	0.87932	D	0	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	L	273;273;273;273;273;262;141	ENSP00000352610:R273L;ENSP00000269305:R273L;ENSP00000398846:R273L;ENSP00000391127:R273L;ENSP00000391478:R273L;ENSP00000425104:R141L	ENSP00000269305:R273L	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	7	1	0	6.94344e-10	1	7.54202e-10	18	7				
SCAF1	58506	broad.mit.edu	37	19	50154597	50154597	+	Silent	SNP	C	C	T	rs370259405		TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr19:50154597C>T	ENST00000360565.3	+	7	1075	c.951C>T	c.(949-951)gaC>gaT	p.D317D		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	317					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TCCCAGGTGACGAGAGCCCCC	0.697																																						ENST00000360565.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20						c.(949-951)gaC>gaT		SR-related CTD-associated factor 1							19.0	20.0	19.0					19																	50154597		2199	4300	6499	SO:0001819	synonymous_variant	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50154597C>T	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.951C>T	19.37:g.50154597C>T							p.D317D	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	7	1075	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	317					Q7Z5V7|Q8WVA1|Q9NR59	Silent	SNP	ENST00000360565.3	37	c.951C>T	CCDS33074.1																																																																																				0.697	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		3	14	0	0	0	1	0	3	14				
CD300LF	146722	broad.mit.edu	37	17	72699245	72699245	+	Intron	SNP	C	C	G	rs367845495		TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr17:72699245C>G	ENST00000326165.6	-	3	494				CD300LF_ENST00000464910.1_Intron|CD300LF_ENST00000301573.9_Intron|RAB37_ENST00000340415.3_Intron|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000343125.4_Intron|CD300LF_ENST00000583937.1_Silent_p.T140T|CD300LF_ENST00000361254.4_Silent_p.T143T|CD300LF_ENST00000469092.1_Intron|CD300LF_ENST00000581500.1_Silent_p.T143T	NM_139018.3	NP_620587.2	Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f						immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GTGCTGTAAACGTAGTGGAGG	0.572																																						ENST00000361254.4																			0				endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(427-429)acG>acC		CD300 molecule-like family member f							205.0	166.0	179.0					17																	72699245		2203	4300	6503	SO:0001627	intron_variant	146722					integral to membrane|plasma membrane	receptor activity	g.chr17:72699245C>G	BC028199	CCDS11704.1, CCDS74148.1, CCDS74149.1, CCDS74150.1, CCDS74151.1, CCDS74152.1	17q25.2	2013-01-11	2006-03-29		ENSG00000186074	ENSG00000186074		"""Immunoglobulin superfamily / V-set domain containing"""	29883	protein-coding gene	gene with protein product		609807	"""CD300 antigen like family member F"""			12975309	Standard	NM_139018		Approved	IREM1, NKIR, IGSF13, CD300f, CLM1	uc002jlg.3	Q8TDQ1	OTTHUMG00000067609	ENST00000326165.6:c.383-8G>C	17.37:g.72699245C>G						CD300LF_ENST00000343125.4_Intron|CD300LF_ENST00000581500.1_Silent_p.T143T|CD300LF_ENST00000301573.9_Intron|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000326165.6_Intron|CD300LF_ENST00000464910.1_Intron|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000583937.1_Silent_p.T140T|CD300LF_ENST00000469092.1_Intron	p.T143T			Q8TDQ1	CLM1_HUMAN			3	428	-			127					B2RCL2|C9JDN3|Q3Y6P0|Q6UX24|Q7Z6A6|Q7Z7I4|Q7Z7I5|Q8N6D0|Q8NAF5	Silent	SNP	ENST00000326165.6	37	c.429G>C	CCDS11704.1																																																																																				0.572	CD300LF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000145085.1	NM_139018		9	33	0	0	0	1	0	9	33				
TMEM129	92305	broad.mit.edu	37	4	1722422	1722422	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr4:1722422delA	ENST00000382936.3	-	1	636	c.143delT	c.(142-144)ttcfs	p.F48fs	TMEM129_ENST00000536901.1_Frame_Shift_Del_p.F48fs|TACC3_ENST00000313288.4_5'Flank|TMEM129_ENST00000303277.2_Frame_Shift_Del_p.F48fs	NM_001127266.1	NP_001120738.1	A0AVI4	TM129_HUMAN	transmembrane protein 129, E3 ubiquitin protein ligase	48					protein ubiquitination (GO:0016567)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			lung(2)	2			OV - Ovarian serous cystadenocarcinoma(23;0.00765)			GAAGGGCACGAAGGCGGCGTC	0.711																																						ENST00000382936.3																			0				lung(2)	2						c.(142-144)tcfs		transmembrane protein 129							18.0	16.0	16.0					4																	1722422		2099	4162	6261	SO:0001589	frameshift_variant	92305					integral to membrane		g.chr4:1722422delA	BC009331	CCDS3351.1, CCDS46998.1	4p16.3	2014-07-25	2014-07-25		ENSG00000168936	ENSG00000168936			25137	protein-coding gene	gene with protein product		615975	"""transmembrane protein 129"""			24807418, 25030448	Standard	NM_138385		Approved	D4S2561E	uc003gdn.3	A0AVI4	OTTHUMG00000121150	ENST00000382936.3:c.143delT	4.37:g.1722422delA	ENSP00000372394:p.Phe48fs					TMEM129_ENST00000536901.1_Frame_Shift_Del_p.F48fs|TMEM129_ENST00000303277.2_Frame_Shift_Del_p.F48fs	p.F48fs	NM_001127266.1	NP_001120738.1	A0AVI4	TM129_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)		1	636	-			48					A6NH49|A6NI98|D3DVP8	Frame_Shift_Del	DEL	ENST00000382936.3	37	c.143delT	CCDS46998.1																																																																																				0.711	TMEM129-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350724.1	NM_138385		2	4						2	4	---	---	---	---
HLA-V	352962	broad.mit.edu	37	6	29760353	29760373	+	RNA	DEL	GCGGGCGCCGTGGATGGAGCA	GCGGGCGCCGTGGATGGAGCA	-	rs60681449|rs2905755|rs140982245	byFrequency	TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	ENST00000457107.1	+	0	223_243									major histocompatibility complex, class I, V (pseudogene)																		GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG	0.674																																						ENST00000457107.1																			0																																																			0							g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29760353_29760373delGCGGGCGCCGTGGATGGAGCA														0	223_243	+									RNA	DEL	ENST00000457107.1	37																																																																																						0.674	HLA-V-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000105231.1	NG_002729		4	6						4	6	---	---	---	---
TYRP1	7306	broad.mit.edu	37	9	12702411	12702414	+	Frame_Shift_Del	DEL	ACAA	ACAA	-	rs387906562|rs369807922		TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr9:12702411_12702414delACAA	ENST00000388918.5	+	5	1183_1186	c.1054_1057delACAA	c.(1054-1059)acaaacfs	p.TN352fs	RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381137.2_Frame_Shift_Del_p.TN62fs|TYRP1_ENST00000381136.2_Frame_Shift_Del_p.TN62fs	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	352					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.N353fs*31(2)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TTCCAACTCTACAAACAGTTTCCG	0.387									Oculocutaneous Albinism																													ENST00000388918.5																			2	Deletion - Frameshift(2)	p.N353fs*31(2)	NS(1)|lung(1)	NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22	GRCh37	CD085016	TYRP1	D		c.(1054-1059)acfs		tyrosinase-related protein 1																																				SO:0001589	frameshift_variant	7306	Oculocutaneous Albinism	Familial Cancer Database		melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	g.chr9:12702411_12702414delACAA	L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.1054_1057delACAA	9.37:g.12702411_12702414delACAA	ENSP00000373570:p.Thr352fs					TYRP1_ENST00000381137.2_Frame_Shift_Del_p.TN62fs|RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381136.2_Frame_Shift_Del_p.TN62fs	p.TN352fs	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN		GBM - Glioblastoma multiforme(50;9.85e-06)	5	1183_1186	+		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)	352					P78468|P78469|Q13721|Q15679	Frame_Shift_Del	DEL	ENST00000388918.5	37	c.1054_1057delACAA	CCDS34990.1																																																																																				0.387	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550		14	4						14	4	---	---	---	---
