#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
DLG2	1740	broad.mit.edu	37	11	83243769	83243769	+	Silent	SNP	T	T	C			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr11:83243769T>C	ENST00000532653.1	-	16	2162	c.1860A>G	c.(1858-1860)ggA>ggG	p.G620G	DLG2_ENST00000398304.1_Silent_p.G102G|DLG2_ENST00000398309.2_Silent_p.G620G|DLG2_ENST00000376106.3_Silent_p.G102G|DLG2_ENST00000330014.6_Silent_p.G559G|DLG2_ENST00000426717.2_Silent_p.G102G|DLG2_ENST00000418306.2_Silent_p.G517G|DLG2_ENST00000280241.8_Silent_p.G659G|DLG2_ENST00000530800.1_Silent_p.G129G|DLG2_ENST00000404783.3_Silent_p.G102G|DLG2_ENST00000537455.1_Silent_p.G374G|DLG2_ENST00000543673.1_Silent_p.G725G|DLG2_ENST00000524982.1_Silent_p.G620G|DLG2_ENST00000531015.1_Silent_p.G587G|DLG2_ENST00000376104.2_Silent_p.G725G			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	331					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AATCAATCACTCCAGGTTTGG	0.398																																						ENST00000398309.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(1858-1860)ggA>ggG		discs, large homolog 2 (Drosophila)							191.0	174.0	179.0					11																	83243769		1877	4108	5985	SO:0001819	synonymous_variant	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	g.chr11:83243769T>C	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.1860A>G	11.37:g.83243769T>C						DLG2_ENST00000530800.1_Silent_p.G129G|DLG2_ENST00000426717.2_Silent_p.G102G|DLG2_ENST00000531015.1_Silent_p.G587G|DLG2_ENST00000418306.2_Silent_p.G517G|DLG2_ENST00000404783.3_Silent_p.G102G|DLG2_ENST00000330014.6_Silent_p.G559G|DLG2_ENST00000398304.1_Silent_p.G102G|DLG2_ENST00000543673.1_Silent_p.G725G|DLG2_ENST00000376104.2_Silent_p.G725G|DLG2_ENST00000376106.3_Silent_p.G102G|DLG2_ENST00000537455.1_Silent_p.G374G|DLG2_ENST00000280241.8_Silent_p.G659G|DLG2_ENST00000532653.1_Silent_p.G620G|DLG2_ENST00000524982.1_Silent_p.G620G	p.G620G	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN			16	2330	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	620					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Silent	SNP	ENST00000532653.1	37	c.1860A>G																																																																																					0.398	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		40	57	0	0	0	0.870114	0	40	57				
CFH	3075	broad.mit.edu	37	1	196684882	196684882	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr1:196684882A>G	ENST00000367429.4	+	11	1919	c.1679A>G	c.(1678-1680)gAt>gGt	p.D560G		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	560	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GGTTGGTCTGATTTACCCATA	0.328																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(1678-1680)gAt>gGt		complement factor H							237.0	224.0	229.0					1																	196684882		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196684882A>G	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.1679A>G	1.37:g.196684882A>G	ENSP00000356399:p.Asp560Gly						p.D560G	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			11	1919	+			560			Sushi 9.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.1679A>G	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	A	9.847	1.192566	0.21954	.	.	ENSG00000000971	ENST00000367429	T	0.61980	0.06	5.42	1.36	0.22044	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.50292	0.1607	M	0.63169	1.94	0.09310	N	1	B	0.12013	0.005	B	0.17433	0.018	T	0.39941	-0.9589	9	0.07325	T	0.83	.	5.5249	0.16953	0.6634:0.1586:0.1781:0.0	.	560	P08603	CFAH_HUMAN	G	560	ENSP00000356399:D560G	ENSP00000356399:D560G	D	+	2	0	CFH	194951505	0.000000	0.05858	0.002000	0.10522	0.058000	0.15608	0.232000	0.17891	0.336000	0.23639	0.533000	0.62120	GAT		0.328	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		15	137	0	0	0	0.539581	0	15	137				
GDPD5	81544	broad.mit.edu	37	11	75150998	75150998	+	Silent	SNP	G	G	A	rs371504591		TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr11:75150998G>A	ENST00000336898.3	-	15	2319	c.1482C>T	c.(1480-1482)gaC>gaT	p.D494D	GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000529721.1_Silent_p.D494D|GDPD5_ENST00000533784.1_Silent_p.D375D|GDPD5_ENST00000376282.3_Silent_p.D375D|GDPD5_ENST00000526177.1_Silent_p.D356D|GDPD5_ENST00000533805.1_Silent_p.D249D	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	494					cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GACAGTACTCGTCCGGGGGCT	0.602																																						ENST00000526177.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						c.(1066-1068)gaC>gaT		glycerophosphodiester phosphodiesterase domain containing 5		G		0,4400		0,0,2200	95.0	80.0	85.0		1482	0.8	1.0	11		85	2,8584	2.2+/-6.3	0,2,4291	no	coding-synonymous	GDPD5	NM_030792.6		0,2,6491	AA,AG,GG		0.0233,0.0,0.0154		494/606	75150998	2,12984	2200	4293	6493	SO:0001819	synonymous_variant	81544				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity	g.chr11:75150998G>A	AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.1482C>T	11.37:g.75150998G>A						GDPD5_ENST00000533784.1_Silent_p.D375D|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533805.1_Silent_p.D249D|GDPD5_ENST00000529721.1_Silent_p.D494D|GDPD5_ENST00000376282.3_Silent_p.D375D|GDPD5_ENST00000336898.3_Silent_p.D494D	p.D356D			Q8WTR4	GDPD5_HUMAN			11	2946	-			494			GDPD.		Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Silent	SNP	ENST00000336898.3	37	c.1068C>T	CCDS8238.1																																																																																				0.602	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	NM_030792		35	62	0	0	0	0.779181	0	35	62				
DNAH1	25981	broad.mit.edu	37	3	52430809	52430809	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr3:52430809A>T	ENST00000420323.2	+	72	11867	c.11606A>T	c.(11605-11607)tAc>tTc	p.Y3869F		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3934	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GACATCCCCTACAAGGTGGGC	0.597																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(11605-11607)tAc>tTc		dynein, axonemal, heavy chain 1							134.0	137.0	136.0					3																	52430809		1944	4134	6078	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52430809A>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.11606A>T	3.37:g.52430809A>T	ENSP00000401514:p.Tyr3869Phe						p.Y3869F	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	72	11867	+			3934			AAA 6 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.11606A>T	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	A	7.154	0.584388	0.13749	.	.	ENSG00000114841	ENST00000420323;ENST00000273600	T	0.08282	3.11	4.34	4.34	0.51931	.	0.090564	0.46145	D	0.000310	T	0.09818	0.0241	N	0.10733	0.035	0.51012	D	0.999903	B;D	0.71674	0.378;0.998	B;D	0.76071	0.317;0.987	T	0.13469	-1.0508	10	0.02654	T	1	.	13.6769	0.62460	1.0:0.0:0.0:0.0	.	3869;3934	C9JXH6;Q9P2D7-2	.;.	F	3869;622	ENSP00000401514:Y3869F	ENSP00000273600:Y622F	Y	+	2	0	DNAH1	52405849	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.745000	0.55119	1.824000	0.53156	0.482000	0.46254	TAC		0.597	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		80	197	0	0	0	0.870114	0	80	197				
FOXC2	2303	broad.mit.edu	37	16	86601138	86601138	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr16:86601138C>T	ENST00000320354.4	+	1	282	c.197C>T	c.(196-198)gCg>gTg	p.A66V	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	66					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						CAGCCCGCGGCGCCTAAGGAC	0.657									Late-onset Hereditary Lymphedema																													ENST00000320354.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						c.(196-198)gCg>gTg		forkhead box C2 (MFH-1, mesenchyme forkhead 1)							51.0	54.0	53.0					16																	86601138		2198	4300	6498	SO:0001583	missense	2303	Late-onset Hereditary Lymphedema	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:86601138C>T	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"""Forkhead boxes"""	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.197C>T	16.37:g.86601138C>T	ENSP00000326371:p.Ala66Val					RP11-463O9.5_ENST00000563280.1_RNA	p.A66V	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN			1	282	+			66					C6KMR9|Q14DA6	Missense_Mutation	SNP	ENST00000320354.4	37	c.197C>T	CCDS10958.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.710485	0.68730	.	.	ENSG00000176692	ENST00000320354	D	0.95272	-3.66	4.14	4.14	0.48551	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.114641	0.36778	U	0.002402	D	0.90463	0.7013	L	0.47716	1.5	0.48901	D	0.999724	D	0.55605	0.972	B	0.37989	0.262	D	0.89997	0.4112	10	0.32370	T	0.25	.	15.2227	0.73327	0.0:1.0:0.0:0.0	.	66	Q99958	FOXC2_HUMAN	V	66	ENSP00000326371:A66V	ENSP00000326371:A66V	A	+	2	0	FOXC2	85158639	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.290000	0.51755	2.145000	0.66743	0.650000	0.86243	GCG		0.657	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	NM_005251		21	48	0	0	0	0.667858	0	21	48				
LPP	4026	broad.mit.edu	37	3	188327155	188327155	+	Silent	SNP	G	G	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr3:188327155G>T	ENST00000312675.4	+	6	882	c.636G>T	c.(634-636)acG>acT	p.T212T	LPP_ENST00000543006.1_Silent_p.T212T|LPP_ENST00000448637.1_Silent_p.T212T|LPP_ENST00000471917.1_3'UTR	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	212	Pro-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CCTACACCACGGCCTCCACTT	0.562			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																	ENST00000312675.4				Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"""L, M"""	"""HMGA2, MLL, C12orf9"""		"""lipoma, leukemia"""	HMGA2/LPP(161)	0				NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(634-636)acG>acT		LIM domain containing preferred translocation partner in lipoma							80.0	81.0	81.0					3																	188327155		2203	4300	6503	SO:0001819	synonymous_variant	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188327155G>T	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.636G>T	3.37:g.188327155G>T						LPP_ENST00000448637.1_Silent_p.T212T|LPP_ENST00000543006.1_Silent_p.T212T|LPP_ENST00000471917.1_3'UTR	p.T212T	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	6	882	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	212			Pro-rich.		A1L4L6|D3DNV6|Q8NFX5	Silent	SNP	ENST00000312675.4	37	c.636G>T	CCDS3291.1																																																																																				0.562	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		40	70	1	0	3.43241e-23	0.847076	4.21525e-23	40	70				
TPM1	7168	broad.mit.edu	37	15	63336341	63336341	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr15:63336341A>G	ENST00000403994.3	+	2	310	c.230A>G	c.(229-231)aAg>aGg	p.K77R	TPM1_ENST00000560445.1_Intron|RP11-244F12.3_ENST00000561241.1_RNA|TPM1_ENST00000267996.7_Intron|TPM1_ENST00000357980.4_Missense_Mutation_p.K119R|TPM1_ENST00000559397.1_Intron|TPM1_ENST00000358278.3_Missense_Mutation_p.K77R|TPM1_ENST00000559556.1_Missense_Mutation_p.K77R|TPM1_ENST00000288398.6_Missense_Mutation_p.K77R	NM_001018005.1	NP_001018005.1	P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	77					cardiac muscle contraction (GO:0060048)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|negative regulation of cell migration (GO:0030336)|positive regulation of ATPase activity (GO:0032781)|positive regulation of cell adhesion (GO:0045785)|positive regulation of heart rate by epinephrine (GO:0003065)|positive regulation of stress fiber assembly (GO:0051496)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|ruffle organization (GO:0031529)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|wound healing (GO:0042060)	bleb (GO:0032059)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|muscle thin filament tropomyosin (GO:0005862)|ruffle membrane (GO:0032587)|sarcomere (GO:0030017)|stress fiber (GO:0001725)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(1)|large_intestine(1)|lung(2)	4						GCAGAGAAAAAGGCCACCGAT	0.542																																						ENST00000357980.4																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(355-357)aAg>aGg		tropomyosin 1 (alpha)							71.0	73.0	72.0					15																	63336341		2203	4300	6503	SO:0001583	missense	7168				cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle	g.chr15:63336341A>G	AB209041	CCDS10181.1, CCDS32262.1, CCDS32263.1, CCDS32264.1, CCDS45273.1, CCDS58368.1, CCDS58369.1	15q22.1	2014-09-17			ENSG00000140416	ENSG00000140416		"""Tropomyosins"""	12010	protein-coding gene	gene with protein product		191010	"""chromosome 15 open reading frame 13"", ""cardiomyopathy, hypertrophic 3"""	C15orf13, CMH3		10343096, 8205619	Standard	XM_005254637		Approved		uc002all.3	P09493	OTTHUMG00000132803	ENST00000403994.3:c.230A>G	15.37:g.63336341A>G	ENSP00000385107:p.Lys77Arg					TPM1_ENST00000288398.6_Missense_Mutation_p.K77R|TPM1_ENST00000358278.3_Missense_Mutation_p.K77R|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000267996.7_Intron|TPM1_ENST00000559556.1_Missense_Mutation_p.K77R|TPM1_ENST00000559397.1_Intron|TPM1_ENST00000403994.3_Missense_Mutation_p.K77R	p.K119R			P09493	TPM1_HUMAN			3	435	+			77					B7Z5T7|D9YZV2|D9YZV3|D9YZV8|P09494|P10469|Q6DV89|Q6DV90|Q7Z6L8|Q86W64|Q96IK2|Q9UCI1|Q9UCI2|Q9UCY9|Q9Y427	Missense_Mutation	SNP	ENST00000403994.3	37	c.356A>G	CCDS45273.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.606800	0.87157	.	.	ENSG00000140416	ENST00000288398;ENST00000358278;ENST00000403994;ENST00000357980	T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93	5.84	5.84	0.93424	.	0.000000	0.51477	D	0.000082	T	0.65312	0.2679	N	0.21373	0.66	0.80722	D	1	B;B;B;B;B;B	0.24043	0.0;0.096;0.005;0.005;0.001;0.0	B;B;B;B;B;B	0.34093	0.007;0.175;0.062;0.02;0.043;0.007	T	0.60515	-0.7248	10	0.20046	T	0.44	-8.7034	15.393	0.74760	1.0:0.0:0.0:0.0	.	77;119;77;77;77;77	D9YZV4;Q6ZN40;D9YZV5;D9YZV3;D9YZV2;P09493	.;.;.;.;.;TPM1_HUMAN	R	77;77;77;119	ENSP00000288398:K77R;ENSP00000351022:K77R;ENSP00000385107:K77R;ENSP00000350667:K119R	ENSP00000288398:K77R	K	+	2	0	TPM1	61123394	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.962000	0.93254	2.234000	0.73211	0.402000	0.26972	AAG		0.542	TPM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000417083.2	NM_001018004		3	78	0	0	0	0.150653	0	3	78				
ADAM29	11086	broad.mit.edu	37	4	175897613	175897613	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr4:175897613T>C	ENST00000359240.3	+	5	1607	c.937T>C	c.(937-939)Tgt>Cgt	p.C313R	ADAM29_ENST00000404450.4_Missense_Mutation_p.C313R|ADAM29_ENST00000445694.1_Missense_Mutation_p.C313R|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Missense_Mutation_p.C313R	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	313	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ACACCGTAGTTGTGCAATTGT	0.418																																					Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(937-939)Tgt>Cgt		ADAM metallopeptidase domain 29							154.0	152.0	153.0					4																	175897613		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897613T>C	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.937T>C	4.37:g.175897613T>C	ENSP00000352177:p.Cys313Arg					ADAM29_ENST00000445694.1_Missense_Mutation_p.C313R|ADAM29_ENST00000404450.4_Missense_Mutation_p.C313R|ADAM29_ENST00000514159.1_Missense_Mutation_p.C313R	p.C313R	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	1607	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	313			Peptidase M12B.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.937T>C	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	T	14.45	2.539782	0.45176	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.10477	2.87;2.87;2.87;2.87	4.23	2.94	0.34122	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.218004	0.23250	U	0.050256	T	0.30916	0.0780	M	0.85197	2.74	0.39689	D	0.971015	D	0.89917	1.0	D	0.87578	0.998	T	0.08146	-1.0736	9	.	.	.	.	6.4968	0.22146	0.2158:0.0:0.0:0.7842	.	313	Q9UKF5	ADA29_HUMAN	R	313	ENSP00000352177:C313R;ENSP00000414544:C313R;ENSP00000384229:C313R;ENSP00000423517:C313R	.	C	+	1	0	ADAM29	176134188	0.156000	0.22821	0.575000	0.28536	0.009000	0.06853	0.612000	0.24283	1.904000	0.55121	0.523000	0.50628	TGT		0.418	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				40	90	0	0	0	0.834066	0	40	90				
ADCYAP1R1	117	broad.mit.edu	37	7	31126590	31126590	+	Missense_Mutation	SNP	C	C	T	rs200730426	byFrequency	TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr7:31126590C>T	ENST00000304166.4	+	11	1146	c.857C>T	c.(856-858)aCg>aTg	p.T286M	ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.T265M|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.T286M|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.T286M	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	286					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GTGTGGGCTACGCTGAGACTC	0.512													C|||	2	0.000399361	0.0	0.0	5008	,	,		20759	0.001		0.0	False		,,,				2504	0.001				Ovarian(44;225 1186 2158 11092)	ENST00000304166.4																			0				endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						c.(856-858)aCg>aTg		adenylate cyclase activating polypeptide 1 (pituitary) receptor type I							247.0	221.0	230.0					7																	31126590		2203	4300	6503	SO:0001583	missense	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31126590C>T		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.857C>T	7.37:g.31126590C>T	ENSP00000306620:p.Thr286Met					ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.T286M|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.T265M|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.T286M	p.T286M	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN			11	1146	+			286					A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	c.857C>T	CCDS5433.1	.	.	.	.	.	.	.	.	.	.	C	6.615	0.481874	0.12581	.	.	ENSG00000078549	ENST00000304166;ENST00000381667;ENST00000409363;ENST00000396211;ENST00000409489	T;T;T;T	0.37752	1.23;1.18;1.21;1.21	5.56	-0.273	0.12915	GPCR, family 2-like (1);	0.460920	0.23249	N	0.050264	T	0.20495	0.0493	N	0.16790	0.44	0.09310	N	1	B;B;B;B;B	0.10296	0.002;0.002;0.003;0.001;0.001	B;B;B;B;B	0.12837	0.003;0.003;0.008;0.003;0.003	T	0.15665	-1.0429	10	0.46703	T	0.11	.	10.1044	0.42524	0.0:0.2324:0.0:0.7676	.	286;286;286;265;286	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586	.;.;.;.;PACR_HUMAN	M	286;57;265;286;286	ENSP00000306620:T286M;ENSP00000387335:T265M;ENSP00000379514:T286M;ENSP00000386395:T286M	ENSP00000306620:T286M	T	+	2	0	ADCYAP1R1	31093115	0.931000	0.31567	0.005000	0.12908	0.342000	0.28953	2.882000	0.48546	-0.277000	0.09193	-0.142000	0.14014	ACG		0.512	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		56	94	0	0	0	0.870114	0	56	94				
PTK7	5754	broad.mit.edu	37	6	43097526	43097526	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr6:43097526G>C	ENST00000230419.4	+	3	650	c.429G>C	c.(427-429)caG>caC	p.Q143H	PTK7_ENST00000349241.2_Missense_Mutation_p.Q143H|PTK7_ENST00000352931.2_Missense_Mutation_p.Q143H|PTK7_ENST00000481273.1_Missense_Mutation_p.Q151H|PTK7_ENST00000345201.2_Missense_Mutation_p.Q143H|PTK7_ENST00000471863.1_Missense_Mutation_p.Q143H	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	143	Ig-like C2-type 2.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			TCCAGCCACAGACCCAGGTCA	0.592											OREG0017449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000230419.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(427-429)caG>caC		protein tyrosine kinase 7							104.0	84.0	91.0					6																	43097526		2203	4300	6503	SO:0001583	missense	0				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43097526G>C	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.429G>C	6.37:g.43097526G>C	ENSP00000230419:p.Gln143His		OREG0017449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	913	PTK7_ENST00000349241.2_Missense_Mutation_p.Q143H|PTK7_ENST00000481273.1_Missense_Mutation_p.Q151H|PTK7_ENST00000345201.2_Missense_Mutation_p.Q143H|PTK7_ENST00000352931.2_Missense_Mutation_p.Q143H|PTK7_ENST00000471863.1_Missense_Mutation_p.Q143H	p.Q143H	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		3	650	+			143			Ig-like C2-type 2.		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	ENST00000230419.4	37	c.429G>C	CCDS4884.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.348568	0.61183	.	.	ENSG00000112655	ENST00000230419;ENST00000471863;ENST00000349241;ENST00000352931;ENST00000345201;ENST00000481273;ENST00000419972	T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31	5.66	4.78	0.61160	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.302105	0.36374	N	0.002638	T	0.25082	0.0609	N	0.25380	0.74	0.29345	N	0.865729	P;P;D;P;D;P	0.58970	0.699;0.898;0.964;0.898;0.984;0.951	P;P;P;P;P;P	0.59115	0.699;0.694;0.717;0.579;0.852;0.793	T	0.10245	-1.0638	10	0.72032	D	0.01	.	8.986	0.35994	0.0:0.2408:0.5107:0.2485	.	151;143;143;143;143;143	E9PFZ5;Q13308-3;Q13308-2;Q13308-4;Q13308;Q86X91	.;.;.;.;PTK7_HUMAN;.	H	143;143;143;143;143;151;151	ENSP00000230419:Q143H;ENSP00000419037:Q143H;ENSP00000325462:Q143H;ENSP00000326029:Q143H;ENSP00000325992:Q143H;ENSP00000418754:Q151H	ENSP00000230418:Q143H	Q	+	3	2	PTK7	43205504	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.330000	0.43885	1.348000	0.45733	0.563000	0.77884	CAG		0.592	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			31	78	0	0	0	0.769981	0	31	78				
ACAN	176	broad.mit.edu	37	15	89391173	89391173	+	Missense_Mutation	SNP	G	G	A	rs62640041		TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr15:89391173G>A	ENST00000561243.1	+	8	1636	c.1636G>A	c.(1636-1638)Gtg>Atg	p.V546M	ACAN_ENST00000439576.2_Missense_Mutation_p.V546M|ACAN_ENST00000558207.1_Missense_Mutation_p.V546M|ACAN_ENST00000559004.1_Missense_Mutation_p.V546M|ACAN_ENST00000352105.7_Missense_Mutation_p.V546M			P16112	PGCA_HUMAN	aggrecan	546	G2-B.|Link 3. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GACCCCATGCGTGGGTGACAA	0.592																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(1636-1638)Gtg>Atg		aggrecan							81.0	86.0	84.0					15																	89391173		1972	4146	6118	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89391173G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.1636G>A	15.37:g.89391173G>A	ENSP00000453342:p.Val546Met					ACAN_ENST00000559004.1_Missense_Mutation_p.V546M|ACAN_ENST00000352105.7_Missense_Mutation_p.V546M|ACAN_ENST00000561243.1_Missense_Mutation_p.V546M|ACAN_ENST00000558207.1_Missense_Mutation_p.V546M	p.V546M	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		9	2010	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		546					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.1636G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613155	0.46631	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.09630	2.96;2.96	5.35	5.35	0.76521	.	.	.	.	.	T	0.22859	0.0552	L	0.43152	1.355	0.30688	N	0.75162	D;D;D	0.89917	1.0;1.0;0.992	D;D;P	0.73380	0.98;0.98;0.875	T	0.02844	-1.1103	9	0.41790	T	0.15	-15.6831	10.1807	0.42965	0.0912:0.0:0.9088:0.0	.	546;546;546	E7ENV9;E7EX88;Q6PID9	.;.;.	M	546	ENSP00000387356:V546M;ENSP00000341615:V546M	ENSP00000268134:V546M	V	+	1	0	ACAN	87192177	0.514000	0.26202	1.000000	0.80357	0.971000	0.66376	1.195000	0.32186	2.518000	0.84900	0.563000	0.77884	GTG		0.592	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		10	76	0	0	0	0.411799	0	10	76				
KRTAP5-4	387267	broad.mit.edu	37	11	1643175	1643175	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr11:1643175C>T	ENST00000399682.1	-	1	193	c.149G>A	c.(148-150)tGt>tAt	p.C50Y		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GATGGGCACACAGCAGCTGGa	0.682																																						ENST00000399682.1																			0				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20						c.(148-150)tGt>tAt		keratin associated protein 5-4							9.0	18.0	15.0					11																	1643175		687	1577	2264	SO:0001583	missense	387267					keratin filament		g.chr11:1643175C>T	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.149G>A	11.37:g.1643175C>T	ENSP00000382590:p.Cys50Tyr						p.C50Y	NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	193	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	50			9 X 4 AA repeats of C-C-X-P.			Missense_Mutation	SNP	ENST00000399682.1	37	c.149G>A		.	.	.	.	.	.	.	.	.	.	C	12.82	2.053978	0.36277	.	.	ENSG00000241598	ENST00000399682;ENST00000328953	T	0.01034	5.42	3.17	3.17	0.36434	.	.	.	.	.	T	0.04182	0.0116	M	0.87456	2.885	0.29415	N	0.860974	.	.	.	.	.	.	T	0.01096	-1.1453	7	0.87932	D	0	.	10.1583	0.42836	0.0:1.0:0.0:0.0	.	.	.	.	Y	50	ENSP00000382590:C50Y	ENSP00000331603:C50Y	C	-	2	0	KRTAP5-4	1599751	0.997000	0.39634	0.994000	0.49952	0.805000	0.45488	4.665000	0.61547	1.462000	0.47948	0.586000	0.80456	TGT		0.682	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		73	149	0	0	0	0.870114	0	73	149				
POSTN	10631	broad.mit.edu	37	13	38158190	38158190	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr13:38158190G>T	ENST00000379747.4	-	9	1276	c.1159C>A	c.(1159-1161)Ctt>Att	p.L387I	POSTN_ENST00000379742.4_Missense_Mutation_p.L387I|POSTN_ENST00000379749.4_Missense_Mutation_p.L387I|POSTN_ENST00000379743.4_Missense_Mutation_p.L387I|POSTN_ENST00000541179.1_Missense_Mutation_p.L387I|POSTN_ENST00000541481.1_Missense_Mutation_p.L387I	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	387	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TGGGCCACAAGATCCGTGAAG	0.438																																						ENST00000379747.4																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1159-1161)Ctt>Att		periostin, osteoblast specific factor							132.0	104.0	113.0					13																	38158190		2203	4300	6503	SO:0001583	missense	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38158190G>T	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.1159C>A	13.37:g.38158190G>T	ENSP00000369071:p.Leu387Ile					POSTN_ENST00000379749.4_Missense_Mutation_p.L387I|POSTN_ENST00000541179.1_Missense_Mutation_p.L387I|POSTN_ENST00000541481.1_Missense_Mutation_p.L387I|POSTN_ENST00000379742.4_Missense_Mutation_p.L387I|POSTN_ENST00000379743.4_Missense_Mutation_p.L387I	p.L387I	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	9	1276	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	387			FAS1 3.		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.1159C>A	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.926630	0.73327	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	D;D;D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99;-2.99;-2.99	5.81	5.81	0.92471	FAS1 domain (4);	0.100828	0.64402	D	0.000002	D	0.94581	0.8254	L	0.54323	1.7	0.40477	D	0.980401	D;D;D;D;D;D;D	0.76494	0.999;0.998;0.975;0.999;0.992;0.97;0.975	D;D;P;D;D;P;P	0.85130	0.997;0.995;0.876;0.995;0.986;0.804;0.876	D	0.94256	0.7498	10	0.49607	T	0.09	-15.8209	14.2643	0.66107	0.0707:0.0:0.9293:0.0	.	387;387;387;387;387;387;387	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	I	387	ENSP00000437959:L387I;ENSP00000369073:L387I;ENSP00000369071:L387I;ENSP00000369067:L387I;ENSP00000369066:L387I;ENSP00000437953:L387I	ENSP00000369066:L387I	L	-	1	0	POSTN	37056190	1.000000	0.71417	0.983000	0.44433	0.983000	0.72400	3.341000	0.52151	2.746000	0.94184	0.591000	0.81541	CTT		0.438	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		12	34	1	0	7.03913e-09	0.411799	8.07769e-09	12	34				
CYP24A1	1591	broad.mit.edu	37	20	52779274	52779274	+	Silent	SNP	C	C	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr20:52779274C>T	ENST00000216862.3	-	7	1365	c.972G>A	c.(970-972)caG>caA	p.Q324Q	CYP24A1_ENST00000395954.3_Silent_p.Q182Q|CYP24A1_ENST00000395955.3_Silent_p.Q324Q	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	324					osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CCGCAGCCAGCTGGAGCTCTG	0.418																																						ENST00000216862.3																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(970-972)caG>caA		cytochrome P450, family 24, subfamily A, polypeptide 1	Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						62.0	59.0	60.0					20																	52779274		2203	4300	6503	SO:0001819	synonymous_variant	0				hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	g.chr20:52779274C>T	U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"""Cytochrome P450s"""	2602	protein-coding gene	gene with protein product		126065	"""cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"""	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.972G>A	20.37:g.52779274C>T						CYP24A1_ENST00000395955.3_Silent_p.Q324Q|CYP24A1_ENST00000395954.3_Silent_p.Q182Q	p.Q324Q	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	STAD - Stomach adenocarcinoma(23;0.206)		7	1365	-	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		324					Q15807|Q32ML3|Q5I2W7	Silent	SNP	ENST00000216862.3	37	c.972G>A	CCDS33491.1																																																																																				0.418	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079769.2			8	59	0	0	0	0.307466	0	8	59				
CRAMP1L	57585	broad.mit.edu	37	16	1709962	1709962	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr16:1709962A>G	ENST00000397412.3	+	11	2410	c.2311A>G	c.(2311-2313)Aag>Gag	p.K771E	CRAMP1L_ENST00000293925.5_Missense_Mutation_p.K771E|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.K149E|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.K768E			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	771						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GCCCCCAGGGAAGGTGGTGAC	0.637																																						ENST00000397412.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						c.(2311-2313)Aag>Gag		Crm, cramped-like (Drosophila)							51.0	59.0	56.0					16																	1709962		2099	4221	6320	SO:0001583	missense	57585					nucleus	DNA binding	g.chr16:1709962A>G	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.2311A>G	16.37:g.1709962A>G	ENSP00000380559:p.Lys771Glu					LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.K768E|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.K771E|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.K149E	p.K771E			Q96RY5	CRML_HUMAN			11	2410	+			771					A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	ENST00000397412.3	37	c.2311A>G	CCDS10440.2	.	.	.	.	.	.	.	.	.	.	A	20.9	4.071867	0.76301	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138;ENST00000262317	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.76550	0.4003	M	0.72118	2.19	0.44762	D	0.997768	D	0.76494	0.999	D	0.69142	0.962	T	0.79027	-0.1971	9	0.56958	D	0.05	-34.0969	14.5029	0.67734	1.0:0.0:0.0:0.0	.	771	Q96RY5	CRML_HUMAN	E	771;771;768;149	.	ENSP00000262317:K149E	K	+	1	0	CRAMP1L	1649963	1.000000	0.71417	0.998000	0.56505	0.430000	0.31655	7.933000	0.87642	2.017000	0.59298	0.459000	0.35465	AAG		0.637	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			18	34	0	0	0	0.654019	0	18	34				
RNF217-AS1	7955	broad.mit.edu	37	6	125233565	125233565	+	RNA	SNP	G	G	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr6:125233565G>T	ENST00000439075.1	-	0	1180					NR_026876.1																						TTTTCTAATGGCTATCTTGTT	0.378																																						ENST00000439075.1																			0																				114.0	116.0	116.0					6																	125233565		876	1991	2867			0							g.chr6:125233565G>T																													6.37:g.125233565G>T								NR_026876.1						0	1180	-									RNA	SNP	ENST00000439075.1	37																																																																																						0.378	RP11-510H23.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000042059.1			7	45	1	0	5.18039e-06	0.278610	5.75599e-06	7	45				
HEATR5B	54497	broad.mit.edu	37	2	37280709	37280709	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr2:37280709G>A	ENST00000233099.5	-	17	2536	c.2441C>T	c.(2440-2442)gCt>gTt	p.A814V	HEATR5B_ENST00000354531.2_Missense_Mutation_p.A814V	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	814						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GACACCTTTAGCTTGTTTAAC	0.318																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(2440-2442)gCt>gTt		HEAT repeat containing 5B							56.0	57.0	57.0					2																	37280709		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37280709G>A	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.2441C>T	2.37:g.37280709G>A	ENSP00000233099:p.Ala814Val					HEATR5B_ENST00000354531.2_Missense_Mutation_p.A814V	p.A814V	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			17	2536	-		all_hematologic(82;0.21)	814					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.2441C>T	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.042567	0.75732	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.65732	-0.17;-0.17	5.85	5.85	0.93711	Armadillo-type fold (1);	0.045203	0.85682	D	0.000000	T	0.55417	0.1919	L	0.39898	1.24	0.80722	D	1	B	0.32338	0.365	B	0.28465	0.09	T	0.50311	-0.8843	10	0.27785	T	0.31	-12.931	20.1736	0.98170	0.0:0.0:1.0:0.0	.	814	Q9P2D3	HTR5B_HUMAN	V	814	ENSP00000233099:A814V;ENSP00000346531:A814V	ENSP00000233099:A814V	A	-	2	0	HEATR5B	37134213	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	9.808000	0.99193	2.767000	0.95098	0.557000	0.71058	GCT		0.318	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		12	36	0	0	0	0.457914	0	12	36				
SERINC1	57515	broad.mit.edu	37	6	122779772	122779772	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr6:122779772C>T	ENST00000339697.4	-	2	178	c.94G>A	c.(94-96)Gga>Aga	p.G32R		NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN	serine incorporator 1	32					L-serine transport (GO:0015825)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		GAGTTGTTTCCACTAGGACAG	0.373																																						ENST00000368454.1																			0				endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13						c.(94-96)Gga>Aga		serine incorporator 1							176.0	164.0	168.0					6																	122779772		2203	4300	6503	SO:0001583	missense	57515				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding	g.chr6:122779772C>T	AF087902	CCDS5125.1	6q22.32	2006-02-09	2005-10-14	2005-10-14	ENSG00000111897	ENSG00000111897			13464	protein-coding gene	gene with protein product		614548	"""tumor differentially expressed 2"""	TDE2		10637174	Standard	NM_020755		Approved	TMS-2, TDE1L, KIAA1253	uc003pyy.1	Q9NRX5	OTTHUMG00000015487	ENST00000339697.4:c.94G>A	6.37:g.122779772C>T	ENSP00000342962:p.Gly32Arg					SERINC1_ENST00000339697.3_Missense_Mutation_p.G32R	p.G32R			Q9NRX5	SERC1_HUMAN		GBM - Glioblastoma multiforme(226;0.126)	4	423	-			32					B3KY69|E1P565|O75655|Q7Z2F5|Q8TAG1|Q9NTH8|Q9ULG7	Missense_Mutation	SNP	ENST00000339697.4	37	c.94G>A	CCDS5125.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359493	0.82353	.	.	ENSG00000111897	ENST00000339697;ENST00000368454	T;T	0.13420	2.59;2.59	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.12433	0.0302	L	0.46157	1.445	0.80722	D	1	B	0.30605	0.287	B	0.39299	0.296	T	0.04307	-1.0961	10	0.54805	T	0.06	-14.2083	18.9774	0.92743	0.0:1.0:0.0:0.0	.	32	Q9NRX5	SERC1_HUMAN	R	32	ENSP00000342962:G32R;ENSP00000357439:G32R	ENSP00000342962:G32R	G	-	1	0	SERINC1	122821471	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.903000	0.63272	2.551000	0.86045	0.650000	0.86243	GGA		0.373	SERINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042031.2	NM_020755		53	108	0	0	0	0.870114	0	53	108				
CEBPE	1053	broad.mit.edu	37	14	23587880	23587880	+	Silent	SNP	G	G	A			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr14:23587880G>A	ENST00000206513.5	-	1	945	c.421C>T	c.(421-423)Ctg>Ttg	p.L141L		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	141					cellular response to lipopolysaccharide (GO:0071222)|cytokine biosynthetic process (GO:0042089)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|macrophage differentiation (GO:0030225)|phagocytosis (GO:0006909)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		TGGTACTGCAGGGGATTGTAG	0.677																																					NSCLC(63;1230 1818 14565 22565)	ENST00000206513.5																			0				large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9						c.(421-423)Ctg>Ttg		CCAAT/enhancer binding protein (C/EBP), epsilon							25.0	26.0	25.0					14																	23587880		2202	4299	6501	SO:0001819	synonymous_variant	1053					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23587880G>A		CCDS9589.1	14q11.2	2014-09-17			ENSG00000092067	ENSG00000092067		"""basic leucine zipper proteins"""	1836	protein-coding gene	gene with protein product		600749				8661101	Standard	NM_001805		Approved	CRP1	uc001wiv.2	Q15744	OTTHUMG00000028719	ENST00000206513.5:c.421C>T	14.37:g.23587880G>A							p.L141L	NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN		GBM - Glioblastoma multiforme(265;0.0064)	1	945	-	all_cancers(95;4.6e-05)		141					Q15745|Q8IYI2|Q99803	Silent	SNP	ENST00000206513.5	37	c.421C>T	CCDS9589.1																																																																																				0.677	CEBPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071716.2	NM_001805		15	21	0	0	0	0.539581	0	15	21				
NPHP4	261734	broad.mit.edu	37	1	5964711	5964711	+	Silent	SNP	G	G	A	rs373182062		TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr1:5964711G>A	ENST00000378156.4	-	16	2374	c.2109C>T	c.(2107-2109)ctC>ctT	p.L703L	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	703					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TCACAGGCACGAGGATGTGGG	0.572																																						ENST00000378156.4																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(2107-2109)ctC>ctT		nephronophthisis 4		G		3,4173		0,3,2085	53.0	55.0	54.0		2109	-7.4	0.0	1		54	0,8456		0,0,4228	no	coding-synonymous	NPHP4	NM_015102.3		0,3,6313	AA,AG,GG		0.0,0.0718,0.0237		703/1427	5964711	3,12629	2088	4228	6316	SO:0001819	synonymous_variant	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5964711G>A	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.2109C>T	1.37:g.5964711G>A						NPHP4_ENST00000478423.2_5'UTR	p.L703L	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	16	2374	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	703					Q8IWC0	Silent	SNP	ENST00000378156.4	37	c.2109C>T	CCDS44052.1																																																																																				0.572	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			22	43	0	0	0	0.706142	0	22	43				
ADAM21P1	145241	broad.mit.edu	37	14	70713742	70713742	+	RNA	SNP	G	G	T	rs371307290		TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr14:70713742G>T	ENST00000530196.1	-	0	776					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		CCACAACAACGAGCTCCAGAA	0.433																																						ENST00000530196.1																			0																																																			0							g.chr14:70713742G>T			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70713742G>T								NR_003951.1						0	776	-									RNA	SNP	ENST00000530196.1	37																																																																																						0.433	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		3	103	1	0	0.00198382	0.248553	0.00213642	3	103				
MLLT3	4300	broad.mit.edu	37	9	20414280	20414280	+	Silent	SNP	G	G	A			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr9:20414280G>A	ENST00000380338.4	-	5	850	c.564C>T	c.(562-564)agC>agT	p.S188S	MLLT3_ENST00000429426.2_Silent_p.S185S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	188	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S188S(1)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TGGTActactgctgctgctgc	0.502			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		1	Substitution - coding silent(1)	p.S188S(1)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(562-564)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							77.0	84.0	82.0					9																	20414280		2203	4300	6503	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414280G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.564C>T	9.37:g.20414280G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S185S|MLLT3_ENST00000355930.6_5'UTR	p.S188S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	850	-			188			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.564C>T	CCDS6494.1																																																																																				0.502	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	86	0	0	0	0.150653	0	4	86				
MEMO1	51072	broad.mit.edu	37	2	32145945	32145945	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr2:32145945C>A	ENST00000295065.5	-	4	556	c.247G>T	c.(247-249)Gtg>Ttg	p.V83L	MEMO1_ENST00000426310.2_Missense_Mutation_p.V60L|AL121652.1_ENST00000408399.1_RNA|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000490459.1_5'UTR|MEMO1_ENST00000379383.3_Missense_Mutation_p.V86L|MEMO1_ENST00000404530.1_Missense_Mutation_p.V83L	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	83					regulation of microtubule-based process (GO:0032886)	cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					GAGAGGGGCACATGATGAGAA	0.373																																						ENST00000295065.4																			0				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17						c.(247-249)Gtg>Ttg		mediator of cell motility 1							86.0	91.0	89.0					2																	32145945		2203	4300	6503	SO:0001583	missense	51072				regulation of microtubule-based process	cytosol|nucleus		g.chr2:32145945C>A	AF132961	CCDS1776.1, CCDS46255.1	2p22-p21	2010-05-24	2007-02-12	2007-02-12	ENSG00000162959	ENSG00000162959			14014	protein-coding gene	gene with protein product		611786	"""chromosome 2 open reading frame 4"""	C2orf4		15156151	Standard	NM_015955		Approved	CGI-27, MEMO	uc002rnx.3	Q9Y316	OTTHUMG00000128453	ENST00000295065.5:c.247G>T	2.37:g.32145945C>A	ENSP00000295065:p.Val83Leu					MEMO1_ENST00000490459.1_5'UTR|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000426310.2_Missense_Mutation_p.V60L|MEMO1_ENST00000404530.1_Missense_Mutation_p.V83L|MEMO1_ENST00000379383.3_Missense_Mutation_p.V86L	p.V83L	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN			4	556	-	Acute lymphoblastic leukemia(172;0.155)		83					B4DLS0|D6W575|Q5R2V8|Q5R2V9|Q6NSL5	Missense_Mutation	SNP	ENST00000295065.5	37	c.247G>T	CCDS1776.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.933464	0.73442	.	.	ENSG00000162959	ENST00000295065;ENST00000379383;ENST00000404530;ENST00000426310	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.65954	0.2741	L	0.52823	1.66	0.80722	D	1	B;B	0.09022	0.002;0.0	B;B	0.17979	0.02;0.001	T	0.59783	-0.7389	9	0.41790	T	0.15	-1.1744	19.5476	0.95305	0.0:1.0:0.0:0.0	.	60;83	Q9Y316-2;Q9Y316	.;MEMO1_HUMAN	L	83;86;83;60	.	ENSP00000295065:V83L	V	-	1	0	MEMO1	31999449	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.587000	0.82613	2.719000	0.93026	0.655000	0.94253	GTG		0.373	MEMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250251.2	NM_015955		31	69	1	0	1.90571e-15	0.796494	2.29999e-15	31	69				
CBLN1	869	broad.mit.edu	37	16	49314902	49314902	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr16:49314902C>A	ENST00000219197.6	-	2	681	c.316G>T	c.(316-318)Gcc>Tcc	p.A106S	CBLN1_ENST00000536749.1_Missense_Mutation_p.A106S	NM_004352.3	NP_004343.1	P23435	CBLN1_HUMAN	cerebellin 1 precursor	106	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Necessary for interaction with CBLN3, and homotrimerization. {ECO:0000250}.				cerebellar granule cell differentiation (GO:0021707)|heterophilic cell-cell adhesion (GO:0007157)|nervous system development (GO:0007399)|positive regulation of synapse assembly (GO:0051965)|protein secretion (GO:0009306)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|extracellular region (GO:0005576)|postsynaptic membrane (GO:0045211)				breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(37;0.0766)|all_lung(18;0.24)				TTGCGCGGGGCGATGAAAGTG	0.542																																						ENST00000219197.6																			0				breast(1)|kidney(3)|large_intestine(2)|lung(3)	9						c.(316-318)Gcc>Tcc		cerebellin 1 precursor							131.0	125.0	127.0					16																	49314902		2200	4300	6500	SO:0001583	missense	869				nervous system development|synaptic transmission	cell junction|extracellular region|synapse		g.chr16:49314902C>A	M58583	CCDS10736.1	16q12.1	2008-02-05			ENSG00000102924	ENSG00000102924			1543	protein-coding gene	gene with protein product		600432				7877445, 1704129	Standard	NM_004352		Approved		uc002efq.3	P23435	OTTHUMG00000133148	ENST00000219197.6:c.316G>T	16.37:g.49314902C>A	ENSP00000219197:p.Ala106Ser					CBLN1_ENST00000536749.1_Missense_Mutation_p.A106S	p.A106S	NM_004352.3	NP_004343.1	P23435	CBLN1_HUMAN			2	681	-		all_cancers(37;0.0766)|all_lung(18;0.24)	106			C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).		B2RAN9|P02682|Q52M09	Missense_Mutation	SNP	ENST00000219197.6	37	c.316G>T	CCDS10736.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.690447	0.48097	.	.	ENSG00000102924	ENST00000219197;ENST00000536749	T;T	0.77877	-1.13;-1.13	4.33	3.3	0.37823	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.121554	0.56097	D	0.000039	T	0.73164	0.3552	L	0.60455	1.87	0.47276	D	0.999377	B	0.28128	0.201	B	0.31016	0.123	T	0.73173	-0.4066	10	0.39692	T	0.17	-15.3425	12.5965	0.56472	0.2532:0.7468:0.0:0.0	.	106	P23435	CBLN1_HUMAN	S	106	ENSP00000219197:A106S;ENSP00000444651:A106S	ENSP00000219197:A106S	A	-	1	0	CBLN1	47872403	0.996000	0.38824	1.000000	0.80357	0.954000	0.61252	1.381000	0.34362	2.253000	0.74438	0.462000	0.41574	GCC		0.542	CBLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256845.4	NM_004352		30	57	1	0	1.45844e-13	0.769981	1.73035e-13	30	57				
MAGEC3	139081	broad.mit.edu	37	X	140983190	140983190	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chrX:140983190C>A	ENST00000298296.1	+	5	1045	c.1045C>A	c.(1045-1047)Caa>Aaa	p.Q349K	MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000544766.1_5'UTR|MAGEC3_ENST00000409007.1_5'Flank|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000448920.1_Missense_Mutation_p.Q101K|MAGEC3_ENST00000536088.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	349	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCAATCCTCAAGGTAAGGG	0.577																																						ENST00000298296.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69						c.(1045-1047)Caa>Aaa		melanoma antigen family C, 3							96.0	86.0	89.0					X																	140983190		2202	4300	6502	SO:0001583	missense	139081							g.chrX:140983190C>A	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1045C>A	X.37:g.140983190C>A	ENSP00000298296:p.Gln349Lys					MAGEC3_ENST00000544766.1_5'UTR|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000448920.1_Missense_Mutation_p.Q101K|MAGEC3_ENST00000443323.2_Intron	p.Q349K	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN			5	1045	+	Acute lymphoblastic leukemia(192;6.56e-05)		349			MAGE 1.		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.1045C>A	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	N	0.420	-0.908750	0.02434	.	.	ENSG00000165509	ENST00000298296;ENST00000448920	T;T	0.37411	4.15;1.2	0.683	-0.433	0.12287	.	.	.	.	.	T	0.22936	0.0554	L	0.34521	1.04	0.09310	N	1	B	0.17667	0.023	B	0.08055	0.003	T	0.19289	-1.0310	8	0.42905	T	0.14	.	.	.	.	.	349	Q8TD91	MAGC3_HUMAN	K	349;101	ENSP00000298296:Q349K;ENSP00000395092:Q101K	ENSP00000298296:Q349K	Q	+	1	0	MAGEC3	140810856	0.003000	0.15002	0.001000	0.08648	0.002000	0.02628	-0.133000	0.10451	-0.228000	0.09869	-0.874000	0.02982	CAA		0.577	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		45	27	1	0	8.72198e-27	0.870114	1.09025e-26	45	27				
CRAMP1L	57585	broad.mit.edu	37	16	1709961	1709961	+	Silent	SNP	G	G	A			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr16:1709961G>A	ENST00000397412.3	+	11	2409	c.2310G>A	c.(2308-2310)ggG>ggA	p.G770G	CRAMP1L_ENST00000293925.5_Silent_p.G770G|CRAMP1L_ENST00000262317.4_Silent_p.G148G|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Silent_p.G767G			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	770						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CGCCCCCAGGGAAGGTGGTGA	0.637																																						ENST00000397412.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						c.(2308-2310)ggG>ggA		Crm, cramped-like (Drosophila)							51.0	59.0	56.0					16																	1709961		2098	4220	6318	SO:0001819	synonymous_variant	57585					nucleus	DNA binding	g.chr16:1709961G>A	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.2310G>A	16.37:g.1709961G>A						LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Silent_p.G767G|CRAMP1L_ENST00000293925.5_Silent_p.G770G|CRAMP1L_ENST00000262317.4_Silent_p.G148G	p.G770G			Q96RY5	CRML_HUMAN			11	2409	+			770					A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Silent	SNP	ENST00000397412.3	37	c.2310G>A	CCDS10440.2																																																																																				0.637	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			18	35	0	0	0	0.639603	0	18	35				
DDX31	64794	broad.mit.edu	37	9	135522235	135522235	+	Missense_Mutation	SNP	G	G	A	rs565096559		TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr9:135522235G>A	ENST00000372159.3	-	12	1644	c.1493C>T	c.(1492-1494)gCg>gTg	p.A498V	DDX31_ENST00000372153.1_Missense_Mutation_p.A498V|DDX31_ENST00000438527.3_Missense_Mutation_p.A369V|DDX31_ENST00000310532.2_Missense_Mutation_p.A498V	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	498	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GATGAAGGCCGCTAGGCAGAC	0.532													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19490	0.0		0.0	False		,,,				2504	0.0					ENST00000372159.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(1492-1494)gCg>gTg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 31							108.0	99.0	102.0					9																	135522235		2203	4300	6503	SO:0001583	missense	64794					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr9:135522235G>A	AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"""DEAD-boxes"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16715	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 25"""		"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"""				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.1493C>T	9.37:g.135522235G>A	ENSP00000361232:p.Ala498Val					DDX31_ENST00000310532.2_Missense_Mutation_p.A498V|DDX31_ENST00000372153.1_Missense_Mutation_p.A498V|DDX31_ENST00000438527.3_Missense_Mutation_p.A369V	p.A498V	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)	12	1644	-			498			Helicase C-terminal.		Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Missense_Mutation	SNP	ENST00000372159.3	37	c.1493C>T	CCDS6951.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475417	0.84640	.	.	ENSG00000125485	ENST00000372159;ENST00000372155;ENST00000372153;ENST00000438527;ENST00000310532	T;D;T;T	0.91996	3.62;-2.95;3.62;3.57	5.46	5.46	0.80206	Helicase, C-terminal (1);	0.046781	0.85682	D	0.000000	D	0.91143	0.7211	N	0.11892	0.195	0.80722	D	1	D;D	0.89917	1.0;0.983	D;P	0.68943	0.961;0.521	D	0.89071	0.3469	10	0.17832	T	0.49	-18.8442	18.288	0.90120	0.0:0.0:1.0:0.0	.	498;498	Q9H8H2-2;Q9H8H2	.;DDX31_HUMAN	V	498;498;498;369;498	ENSP00000361232:A498V;ENSP00000361226:A498V;ENSP00000387730:A369V;ENSP00000310539:A498V	ENSP00000310539:A498V	A	-	2	0	DDX31	134512056	1.000000	0.71417	0.212000	0.23672	0.962000	0.63368	5.700000	0.68318	2.549000	0.85964	0.655000	0.94253	GCG		0.532	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	NM_138620		4	134	0	0	0	0.248553	0	4	134				
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr11:3427765G>C	ENST00000529482.1	+	0	882									tumor suppressing subtransferable candidate 2 pseudogene																		CACACGTCCTGCAGTGGCCTG	0.602																																						ENST00000529482.1																			0																																																			0							g.chr11:3427765G>C			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427765G>C														0	882	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.602	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	107	0	0	0	0.248553	0	4	107				
MRGPRD	116512	broad.mit.edu	37	11	68747555	68747555	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr11:68747555G>A	ENST00000309106.3	-	1	900	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	301						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGCTCCTCGCGAAGCGCCTGT	0.677																																						ENST00000309106.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22						c.(901-903)Cgc>Tgc		MAS-related GPR, member D							28.0	35.0	33.0					11																	68747555		2170	4223	6393	SO:0001583	missense	116512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:68747555G>A	AB083627	CCDS31625.1	11q13.3	2012-08-21			ENSG00000172938	ENSG00000172938		"""GPCR / Class A : Orphans"""	29626	protein-coding gene	gene with protein product		607231				11551509, 12909716	Standard	NM_198923		Approved	mrgD	uc010rqf.2	Q8TDS7	OTTHUMG00000167896	ENST00000309106.3:c.901C>T	11.37:g.68747555G>A	ENSP00000310631:p.Arg301Cys						p.R301C	NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		1	900	-			301					Q8NGK7	Missense_Mutation	SNP	ENST00000309106.3	37	c.901C>T	CCDS31625.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441443	0.43326	.	.	ENSG00000172938	ENST00000309106	T	0.04119	3.7	4.11	-5.43	0.02632	.	1.357460	0.05632	U	0.581908	T	0.05227	0.0139	M	0.65975	2.015	0.09310	N	1	B	0.26002	0.139	B	0.12156	0.007	T	0.44406	-0.9330	10	0.56958	D	0.05	-5.6552	2.2757	0.04102	0.1624:0.1048:0.2832:0.4495	.	301	Q8TDS7	MRGRD_HUMAN	C	301	ENSP00000310631:R301C	ENSP00000310631:R301C	R	-	1	0	MRGPRD	68504131	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.593000	0.05740	-0.637000	0.05516	-1.425000	0.01104	CGC		0.677	MRGPRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396874.1	NM_198923		14	33	0	0	0	0.557998	0	14	33				
AAK1	22848	broad.mit.edu	37	2	69741780	69741780	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr2:69741780C>G	ENST00000409085.4	-	13	1975	c.1599G>C	c.(1597-1599)caG>caC	p.Q533H	RN7SL604P_ENST00000492589.2_RNA|AAK1_ENST00000409068.1_Missense_Mutation_p.Q533H|AAK1_ENST00000406297.3_Missense_Mutation_p.Q533H	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	533	Gln-rich.		Q -> H. {ECO:0000269|PubMed:17344846}.		endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						gctgctgctgctgGTAGAAAT	0.532																																						ENST00000409085.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						c.(1597-1599)caG>caC		AP2 associated kinase 1							38.0	40.0	39.0					2																	69741780		2200	4298	6498	SO:0001583	missense	22848					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr2:69741780C>G	AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.1599G>C	2.37:g.69741780C>G	ENSP00000386456:p.Gln533His					AAK1_ENST00000409068.1_Missense_Mutation_p.Q533H|AAK1_ENST00000406297.3_Missense_Mutation_p.Q533H	p.Q533H	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN			13	1975	-			533		Q -> H.	Gln-rich.		Q4ZFZ3|Q53RX6|Q9UPV4	Missense_Mutation	SNP	ENST00000409085.4	37	c.1599G>C	CCDS1893.2	.	.	.	.	.	.	.	.	.	.	C	8.018	0.758927	0.15846	.	.	ENSG00000115977	ENST00000409068;ENST00000409085;ENST00000406297	T;T;T	0.78003	1.57;-1.13;-1.14	4.89	3.07	0.35406	.	0.854162	0.10089	N	0.717362	T	0.57725	0.2073	N	0.14661	0.345	0.25395	N	0.988498	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.41610	-0.9499	10	0.11794	T	0.64	0.4343	6.749	0.23477	0.0:0.7262:0.1782:0.0957	.	533;533;533	B7ZLC4;Q2M2I8-2;Q2M2I8	.;.;AAK1_HUMAN	H	533	ENSP00000386342:Q533H;ENSP00000386456:Q533H;ENSP00000385181:Q533H	ENSP00000385181:Q533H	Q	-	3	2	AAK1	69595284	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	0.245000	0.18142	0.670000	0.31165	0.447000	0.29281	CAG		0.532	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251847.4	NM_014911		3	31	0	0	0	0.115264	0	3	31				
UMPS	7372	broad.mit.edu	37	3	124449418	124449418	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr3:124449418T>C	ENST00000232607.2	+	1	206	c.100T>C	c.(100-102)Tcc>Ccc	p.S34P	UMPS_ENST00000413078.2_5'UTR|UMPS_ENST00000538242.1_5'UTR|UMPS_ENST00000536109.1_5'UTR|MIR544B_ENST00000582372.1_RNA	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	34	OPRTase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	CGGGCTTTCCTCCCCCATCTA	0.602																																						ENST00000232607.2																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(100-102)Tcc>Ccc		uridine monophosphate synthetase							88.0	78.0	82.0					3																	124449418		2203	4300	6503	SO:0001583	missense	7372				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity	g.chr3:124449418T>C		CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"""orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"""	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.100T>C	3.37:g.124449418T>C	ENSP00000232607:p.Ser34Pro					UMPS_ENST00000536109.1_5'UTR|UMPS_ENST00000413078.2_5'UTR|UMPS_ENST00000538242.1_5'UTR	p.S34P	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN		GBM - Glioblastoma multiforme(114;0.146)	1	206	+			34			OPRTase.		B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Missense_Mutation	SNP	ENST00000232607.2	37	c.100T>C	CCDS3029.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.420850	0.83559	.	.	ENSG00000114491	ENST00000232607	T	0.74947	-0.89	5.15	5.15	0.70609	.	0.063541	0.64402	D	0.000004	D	0.90913	0.7144	H	0.98133	4.155	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.93860	0.7153	10	0.87932	D	0	-10.4186	13.7115	0.62672	0.0:0.0:0.0:1.0	.	34	P11172	UMPS_HUMAN	P	34	ENSP00000232607:S34P	ENSP00000232607:S34P	S	+	1	0	UMPS	125932108	1.000000	0.71417	0.927000	0.36925	0.718000	0.41266	5.170000	0.64990	2.155000	0.67459	0.460000	0.39030	TCC		0.602	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355271.1	NM_000373		3	98	0	0	0	0.150653	0	3	98				
CYP27B1	1594	broad.mit.edu	37	12	58158697	58158697	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr12:58158697A>G	ENST00000228606.4	-	5	1012	c.803T>C	c.(802-804)gTg>gCg	p.V268A	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	268					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	TCGCCGCTCCACGTGCCTCTG	0.607																																						ENST00000228606.4																			0				central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15						c.(802-804)gTg>gCg		cytochrome P450, family 27, subfamily B, polypeptide 1	Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)						75.0	71.0	73.0					12																	58158697		2203	4300	6503	SO:0001583	missense	1594				bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	g.chr12:58158697A>G	AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"""Cytochrome P450s"""	2606	protein-coding gene	gene with protein product	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	609506	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.803T>C	12.37:g.58158697A>G	ENSP00000228606:p.Val268Ala						p.V268A	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		5	1012	-	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		268					B2RC61|Q548T3	Missense_Mutation	SNP	ENST00000228606.4	37	c.803T>C	CCDS8954.1	.	.	.	.	.	.	.	.	.	.	A	14.44	2.535212	0.45176	.	.	ENSG00000111012	ENST00000228606;ENST00000546567	T;T	0.70869	-0.52;2.51	4.65	4.65	0.58169	.	0.065892	0.64402	D	0.000008	T	0.76499	0.3996	M	0.64997	1.995	0.38436	D	0.946587	P	0.36974	0.576	P	0.48738	0.588	T	0.81274	-0.1007	10	0.87932	D	0	-21.5057	13.1872	0.59688	1.0:0.0:0.0:0.0	.	268	O15528	CP27B_HUMAN	A	268;33	ENSP00000228606:V268A;ENSP00000449472:V33A	ENSP00000228606:V268A	V	-	2	0	CYP27B1	56444964	1.000000	0.71417	1.000000	0.80357	0.506000	0.33950	6.327000	0.72910	1.964000	0.57103	0.459000	0.35465	GTG		0.607	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785		41	84	0	0	0	0.870114	0	41	84				
GK	2710	broad.mit.edu	37	X	30737631	30737631	+	Splice_Site	SNP	G	G	C			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chrX:30737631G>C	ENST00000378943.3	+	14	1311	c.1132G>C	c.(1132-1134)Ggg>Cgg	p.G378R	GK_ENST00000378945.3_Splice_Site_p.G378R|GK-AS1_ENST00000464659.1_RNA|GK_ENST00000427190.1_Splice_Site_p.G179R|GK_ENST00000378946.3_Splice_Site_p.G384R|RP11-242C19.2_ENST00000497961.1_RNA	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	384					cellular lipid metabolic process (GO:0044255)|glucose homeostasis (GO:0042593)|glycerol catabolic process (GO:0019563)|glycerol metabolic process (GO:0006071)|glycerol-3-phosphate biosynthetic process (GO:0046167)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			central_nervous_system(1)|large_intestine(3)	4						CAGCGCAAGAGGGTAAGTATT	0.353																																						ENST00000378943.3																			0				central_nervous_system(1)|large_intestine(3)	4						c.e14+1		glycerol kinase							59.0	54.0	55.0					X																	30737631		2201	4299	6500	SO:0001630	splice_region_variant	2710				glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chrX:30737631G>C	X78711	CCDS14225.1, CCDS35224.1, CCDS48090.1, CCDS75963.1	Xp21.3	2014-09-17			ENSG00000198814	ENSG00000198814	2.7.1.30	"""Glycerol kinases"""	4289	protein-coding gene	gene with protein product		300474				7987308	Standard	NM_203391		Approved	GK1, GKD	uc022buj.1	P32189	OTTHUMG00000021328	ENST00000378943.3:c.1133+1G>C	X.37:g.30737631G>C						RP11-242C19.2_ENST00000497961.1_RNA|GK_ENST00000378946.3_Splice_Site_p.G384_splice|GK-AS1_ENST00000464659.1_RNA|GK_ENST00000378945.3_Splice_Site_p.G378_splice|GK_ENST00000427190.1_Splice_Site_p.G179_splice	p.G378_splice	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN			14	1311	+			384					A6NJP5|B2R833|Q6IQ27|Q8IVR5|Q9UMP0|Q9UMP1	Splice_Site	SNP	ENST00000378943.3	37	c.1133_splice	CCDS48090.1	.	.	.	.	.	.	.	.	.	.	G	31	5.076209	0.94000	.	.	ENSG00000198814	ENST00000378946;ENST00000378943;ENST00000534212;ENST00000378945;ENST00000427190;ENST00000451432	D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19	5.67	5.67	0.87782	Carbohydrate kinase, FGGY, C-terminal (1);Carbohydrate kinase, FGGY, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98147	0.9388	H	0.97390	3.995	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.99395	1.0926	10	0.87932	D	0	.	18.9996	0.92828	0.0:0.0:1.0:0.0	.	221;384;378;378;384	E7EQC0;P32189;P32189-2;P32189-1;A6NJP5	.;GLPK_HUMAN;.;.;.	R	384;378;384;378;179;221	ENSP00000368229:G384R;ENSP00000368226:G378R;ENSP00000368228:G378R;ENSP00000401720:G179R	ENSP00000368226:G378R	G	+	1	0	GK	30647552	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.568000	0.98166	2.522000	0.85027	0.594000	0.82650	GGG		0.353	GK-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056170.1	NM_000167	Missense_Mutation	29	15	0	0	0	0.804634	0	29	15				
GGT3P	2679	broad.mit.edu	37	22	18778604	18778604	+	RNA	SNP	G	G	A	rs201814941		TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr22:18778604G>A	ENST00000412448.1	-	0	801							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										TGGCATCCGCGGCCACGGCAG	0.622																																						ENST00000412448.1																			0																																																			0							g.chr22:18778604G>A			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18778604G>A														0	801	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.622	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		7	15	0	0	0	0.335167	0	7	15				
KRI1	65095	broad.mit.edu	37	19	10670558	10670558	+	Silent	SNP	C	C	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr19:10670558C>T	ENST00000312962.6	-	10	892	c.873G>A	c.(871-873)gaG>gaA	p.E291E	KRI1_ENST00000537964.1_5'Flank|KRI1_ENST00000361821.5_Silent_p.E287E	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	285	Glu-rich.					nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TCAGAAACAGCTCCCCTTCGT	0.592																																						ENST00000312962.6																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(871-873)gaG>gaA		KRI1 homolog (S. cerevisiae)							56.0	59.0	58.0					19																	10670558		2203	4300	6503	SO:0001819	synonymous_variant	65095							g.chr19:10670558C>T		CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.873G>A	19.37:g.10670558C>T						KRI1_ENST00000361821.5_Silent_p.E287E	p.E291E	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		10	892	-			291			Glu-rich.		Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Silent	SNP	ENST00000312962.6	37	c.873G>A	CCDS12242.1																																																																																				0.592	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1	NM_023008		11	27	0	0	0	0.361761	0	11	27				
ZNF615	284370	broad.mit.edu	37	19	52498074	52498074	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr19:52498074A>T	ENST00000602063.1	-	6	604	c.255T>A	c.(253-255)gaT>gaA	p.D85E	ZNF615_ENST00000598071.1_Missense_Mutation_p.D96E|ZNF615_ENST00000594083.1_Missense_Mutation_p.D96E|ZNF615_ENST00000391795.3_Missense_Mutation_p.D90E|ZNF615_ENST00000376716.5_Missense_Mutation_p.D85E			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	85					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GCAGAGGATCATCAATTTTCC	0.328																																						ENST00000602063.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42						c.(253-255)gaT>gaA		zinc finger protein 615							56.0	53.0	54.0					19																	52498074		2203	4300	6503	SO:0001583	missense	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52498074A>T	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.255T>A	19.37:g.52498074A>T	ENSP00000473089:p.Asp85Glu					ZNF615_ENST00000391795.3_Missense_Mutation_p.D90E|ZNF615_ENST00000594083.1_Missense_Mutation_p.D96E|ZNF615_ENST00000598071.1_Missense_Mutation_p.D96E|ZNF615_ENST00000376716.5_Missense_Mutation_p.D85E	p.D85E			Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	604	-		all_neural(266;0.117)	85					B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	c.255T>A	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	A	14.47	2.545571	0.45280	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.07444	3.22;3.19	3.31	3.31	0.37934	.	.	.	.	.	T	0.05044	0.0135	L	0.28400	0.85	0.09310	N	1	B;B;B;B	0.27732	0.118;0.187;0.187;0.118	B;B;B;B	0.27500	0.037;0.08;0.08;0.037	T	0.40403	-0.9565	9	0.06236	T	0.91	.	5.2434	0.15483	0.8678:0.0:0.1322:0.0	.	90;92;96;85	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	E	85;95;90;95	ENSP00000365906:D85E;ENSP00000375672:D90E	ENSP00000347019:D95E	D	-	3	2	ZNF615	57189886	0.000000	0.05858	0.004000	0.12327	0.509000	0.34042	0.144000	0.16135	1.502000	0.48669	0.533000	0.62120	GAT		0.328	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		6	37	0	0	0	0.278610	0	6	37				
HAO1	54363	broad.mit.edu	37	20	7894923	7894923	+	Missense_Mutation	SNP	G	G	A	rs200785017		TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr20:7894923G>A	ENST00000378789.3	-	3	484	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	145	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TCTGCCTGCCGCACTAGCTTC	0.517																																						ENST00000378789.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(433-435)Cgg>Tgg		hydroxyacid oxidase (glycolate oxidase) 1							198.0	121.0	147.0					20																	7894923		2203	4300	6503	SO:0001583	missense	54363				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	g.chr20:7894923G>A	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.433C>T	20.37:g.7894923G>A	ENSP00000368066:p.Arg145Trp						p.R145W	NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN			3	484	-			145			FMN hydroxy acid dehydrogenase.		Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	37	c.433C>T	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.218570	0.39201	.	.	ENSG00000101323	ENST00000378789	T	0.34072	1.38	6.17	0.404	0.16355	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.915368	0.09558	N	0.786011	T	0.61438	0.2347	M	0.92923	3.36	0.09310	N	1	D;D	0.56287	0.975;0.975	P;P	0.61592	0.891;0.891	T	0.48570	-0.9024	10	0.87932	D	0	0.281	6.8057	0.23777	0.0708:0.0792:0.4783:0.3717	.	145;145	A8K058;Q9UJM8	.;HAOX1_HUMAN	W	145	ENSP00000368066:R145W	ENSP00000368066:R145W	R	-	1	2	HAO1	7842923	0.057000	0.20700	0.316000	0.25252	0.058000	0.15608	0.662000	0.25038	0.398000	0.25338	0.655000	0.94253	CGG		0.517	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			23	67	0	0	0	0.654019	0	23	67				
DAPK1	1612	broad.mit.edu	37	9	90252885	90252885	+	Silent	SNP	C	C	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr9:90252885C>T	ENST00000408954.3	+	4	647	c.312C>T	c.(310-312)ttC>ttT	p.F104F	DAPK1_ENST00000358077.5_Silent_p.F104F|DAPK1_ENST00000469640.2_Silent_p.F104F|DAPK1_ENST00000472284.1_Silent_p.F104F|DAPK1_ENST00000491893.1_Silent_p.F104F	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	104	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TGTTTGACTTCTTAGCTGAAA	0.418									Chronic Lymphocytic Leukemia, Familial Clustering of																													ENST00000469640.2																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(310-312)ttC>ttT		death-associated protein kinase 1							116.0	113.0	114.0					9																	90252885		2053	4223	6276	SO:0001819	synonymous_variant	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90252885C>T	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.312C>T	9.37:g.90252885C>T						DAPK1_ENST00000491893.1_Silent_p.F104F|DAPK1_ENST00000408954.3_Silent_p.F104F|DAPK1_ENST00000358077.5_Silent_p.F104F|DAPK1_ENST00000472284.1_Silent_p.F104F	p.F104F			P53355	DAPK1_HUMAN			4	687	+			104			Protein kinase.		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Silent	SNP	ENST00000408954.3	37	c.312C>T	CCDS43842.1																																																																																				0.418	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		8	93	0	0	0	0.361761	0	8	93				
STK35	140901	broad.mit.edu	37	20	2097968	2097968	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr20:2097968C>T	ENST00000381482.3	+	3	1820	c.1549C>T	c.(1549-1551)Cgg>Tgg	p.R517W	STK35_ENST00000246032.3_Missense_Mutation_p.R384W|STK35_ENST00000400064.3_Intron			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	517	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						CCCACAGGACCGGCCTGATGC	0.473																																						ENST00000381482.3																			0				large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						c.(1549-1551)Cgg>Tgg		serine/threonine kinase 35							83.0	77.0	79.0					20																	2097968		2203	4300	6503	SO:0001583	missense	140901					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr20:2097968C>T	AL359916	CCDS13024.1, CCDS13024.2	20p13	2008-07-02			ENSG00000125834	ENSG00000125834			16254	protein-coding gene	gene with protein product	"""CLP-36 interacting kinase"""	609370				11973348	Standard	NM_080836		Approved	bA550O8.2, CLIK1	uc002wfw.4	Q8TDR2	OTTHUMG00000031688	ENST00000381482.3:c.1549C>T	20.37:g.2097968C>T	ENSP00000370891:p.Arg517Trp					STK35_ENST00000400064.3_Intron|STK35_ENST00000246032.3_Missense_Mutation_p.R384W	p.R517W			Q8TDR2	STK35_HUMAN			3	1820	+			517			Protein kinase.		B2RBM3|C7ENV8|Q2NKW6|Q5T3R1|Q5T3R2|Q96AB4|Q9BZ06	Missense_Mutation	SNP	ENST00000381482.3	37	c.1549C>T	CCDS13024.2	.	.	.	.	.	.	.	.	.	.	C	24.4	4.527873	0.85706	.	.	ENSG00000125834	ENST00000381482;ENST00000246032	D;D	0.99270	-5.66;-5.66	5.5	5.5	0.81552	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99588	0.9851	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98091	1.0409	10	0.87932	D	0	-12.6477	16.94	0.86215	0.0:1.0:0.0:0.0	.	517	Q8TDR2	STK35_HUMAN	W	517;384	ENSP00000370891:R517W;ENSP00000246032:R384W	ENSP00000246032:R384W	R	+	1	2	STK35	2045968	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.810000	0.69179	2.861000	0.98227	0.655000	0.94253	CGG		0.473	STK35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077574.3	NM_080836		14	93	0	0	0	0.520397	0	14	93				
CYP24A1	1591	broad.mit.edu	37	20	52779277	52779277	+	Silent	SNP	G	G	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr20:52779277G>T	ENST00000216862.3	-	7	1362	c.969C>A	c.(967-969)ctC>ctA	p.L323L	CYP24A1_ENST00000395954.3_Silent_p.L181L|CYP24A1_ENST00000395955.3_Silent_p.L323L	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	323					osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CAGCCAGCTGGAGCTCTGTGA	0.418																																						ENST00000216862.3																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(967-969)ctC>ctA		cytochrome P450, family 24, subfamily A, polypeptide 1	Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						64.0	61.0	62.0					20																	52779277		2203	4300	6503	SO:0001819	synonymous_variant	0				hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	g.chr20:52779277G>T	U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"""Cytochrome P450s"""	2602	protein-coding gene	gene with protein product		126065	"""cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"""	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.969C>A	20.37:g.52779277G>T						CYP24A1_ENST00000395955.3_Silent_p.L323L|CYP24A1_ENST00000395954.3_Silent_p.L181L	p.L323L	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	STAD - Stomach adenocarcinoma(23;0.206)		7	1362	-	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		323					Q15807|Q32ML3|Q5I2W7	Silent	SNP	ENST00000216862.3	37	c.969C>A	CCDS33491.1																																																																																				0.418	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079769.2			9	59	1	0	7.48243e-07	0.335167	8.4479e-07	9	59				
GOLGA8DP	100132979	broad.mit.edu	37	15	22709637	22709637	+	RNA	SNP	T	T	G	rs375512037		TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr15:22709637T>G	ENST00000314246.8	-	0	1147				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											CCCATCTGGTTTTTGAGTTTG	0.547																																						ENST00000314246.8																			0																																																			0							g.chr15:22709637T>G			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709637T>G														0	1147	-									RNA	SNP	ENST00000314246.8	37			.	.	.	.	.	.	.	.	.	.	t	4.705	0.131021	0.08981	.	.	ENSG00000185182	ENST00000341390;ENST00000314246;ENST00000317692	.	.	.	0.921	0.921	0.19403	.	.	.	.	.	T	0.23330	0.0564	.	.	.	.	.	.	B	0.10296	0.003	B	0.08055	0.003	T	0.20773	-1.0265	6	0.25751	T	0.34	.	4.1761	0.10353	0.0:0.0:0.0:1.0	.	84	F8WBT8	.	H	84;84;302	.	ENSP00000327024:N84H	N	-	1	0	AC116165.1	20261001	0.018000	0.18449	0.020000	0.16555	0.004000	0.04260	2.215000	0.42862	0.684000	0.31448	0.228000	0.17796	AAC		0.547	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407		4	308	0	0	0	0.150653	0	4	308				
MAGEB6	158809	broad.mit.edu	37	X	26212431	26212431	+	Silent	SNP	G	G	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chrX:26212431G>T	ENST00000379034.1	+	2	617	c.468G>T	c.(466-468)tcG>tcT	p.S156S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	156	Ser-rich.							p.S156S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CCACTGGCTCGCCTGATGCAG	0.507																																						ENST00000379034.1																			1	Substitution - coding silent(1)	p.S156S(1)	lung(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(466-468)tcG>tcT		melanoma antigen family B, 6							56.0	52.0	53.0					X																	26212431		2202	4300	6502	SO:0001819	synonymous_variant	158809							g.chrX:26212431G>T	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.468G>T	X.37:g.26212431G>T							p.S156S	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	617	+			156			Ser-rich.		Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.468G>T	CCDS14217.1																																																																																				0.507	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		3	34	1	0	0.115264	0.115264	0.118654	3	34				
ATP9A	10079	broad.mit.edu	37	20	50244193	50244193	+	Silent	SNP	C	C	A			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr20:50244193C>A	ENST00000338821.5	-	17	2055	c.1791G>T	c.(1789-1791)cgG>cgT	p.R597R	ATP9A_ENST00000311637.5_Silent_p.R461R|ATP9A_ENST00000402822.1_Silent_p.R476R	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	597					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CCACGAGCACCCGCAGCCCTT	0.567																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1789-1791)cgG>cgT		ATPase, class II, type 9A							216.0	204.0	208.0					20																	50244193		2203	4300	6503	SO:0001819	synonymous_variant	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50244193C>A	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.1791G>T	20.37:g.50244193C>A						ATP9A_ENST00000311637.5_Silent_p.R461R|ATP9A_ENST00000402822.1_Silent_p.R476R	p.R597R	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			17	2055	-			597					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Silent	SNP	ENST00000338821.5	37	c.1791G>T	CCDS33489.1																																																																																				0.567	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		104	264	1	0	4.64173e-58	0.870114	5.90766e-58	104	264				
RALBP1	10928	broad.mit.edu	37	18	9522268	9522268	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr18:9522268C>T	ENST00000019317.4	+	4	1037	c.814C>T	c.(814-816)Cga>Tga	p.R272*	RALBP1_ENST00000383432.3_Nonsense_Mutation_p.R272*|RP11-61L19.3_ENST00000609094.1_RNA			Q15311	RBP1_HUMAN	ralA binding protein 1	272	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				ATP catabolic process (GO:0006200)|chemotaxis (GO:0006935)|positive regulation of Cdc42 GTPase activity (GO:0043089)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|transport (GO:0006810)	cytosol (GO:0005829)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ATPase activity, coupled to movement of substances (GO:0043492)|GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14					Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	GCAGTATTTGCGAGACCTTCC	0.483																																						ENST00000019317.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						c.(814-816)Cga>Tga		ralA binding protein 1							84.0	82.0	83.0					18																	9522268		2203	4300	6503	SO:0001587	stop_gained	10928				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding	g.chr18:9522268C>T	L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797			9841	protein-coding gene	gene with protein product		605801				7673236	Standard	NM_006788		Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.814C>T	18.37:g.9522268C>T	ENSP00000019317:p.Arg272*					RALBP1_ENST00000383432.3_Nonsense_Mutation_p.R272*	p.R272*			Q15311	RBP1_HUMAN			4	1037	+			272			Rho-GAP.		D3DUI0	Nonsense_Mutation	SNP	ENST00000019317.4	37	c.814C>T	CCDS11845.1	.	.	.	.	.	.	.	.	.	.	C	37	5.980709	0.97168	.	.	ENSG00000017797	ENST00000019317;ENST00000383432;ENST00000458039	.	.	.	5.08	1.95	0.26073	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.8308	13.513	0.61524	0.4076:0.5924:0.0:0.0	.	.	.	.	X	272	.	ENSP00000019317:R272X	R	+	1	2	RALBP1	9512268	1.000000	0.71417	0.984000	0.44739	0.996000	0.88848	3.816000	0.55658	0.586000	0.29626	0.460000	0.39030	CGA		0.483	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254479.1	NM_006788		9	68	0	0	0	0.335167	0	9	68				
TYR	7299	broad.mit.edu	37	11	89028439	89028439	+	Silent	SNP	C	C	T	rs374029536		TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr11:89028439C>T	ENST00000263321.5	+	5	1997	c.1495C>T	c.(1495-1497)Ctg>Ttg	p.L499L		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	499					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	TGTGAGCTTGCTGTGTCGTCA	0.537																																						ENST00000263321.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1495-1497)Ctg>Ttg		tyrosinase	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	C		0,4400		0,0,2200	28.0	30.0	29.0		1495	2.1	0.0	11		29	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	TYR	NM_000372.4		0,1,6495	TT,TC,CC		0.0116,0.0,0.0077		499/530	89028439	1,12991	2200	4296	6496	SO:0001819	synonymous_variant	7299				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:89028439C>T	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.1495C>T	11.37:g.89028439C>T							p.L499L	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN			5	1997	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	499					Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Silent	SNP	ENST00000263321.5	37	c.1495C>T	CCDS8284.1																																																																																				0.537	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		8	24	0	0	0	0.335167	0	8	24				
TMF1	7110	broad.mit.edu	37	3	69075248	69075248	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr3:69075248C>A	ENST00000398559.2	-	14	2974	c.2758G>T	c.(2758-2760)Gaa>Taa	p.E920*	TMF1_ENST00000543976.1_Splice_Site_p.E923*|CTD-2013N24.2_ENST00000596523.1_RNA|TMF1_ENST00000489370.1_5'UTR|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	920					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		GGCTTGCGTTCCTTAGGGAGT	0.388																																						ENST00000543976.1																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.e14-1		TATA element modulatory factor 1							91.0	87.0	88.0					3																	69075248		1884	4111	5995	SO:0001630	splice_region_variant	7110				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	g.chr3:69075248C>A		CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.2758-1G>T	3.37:g.69075248C>A						CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|TMF1_ENST00000489370.1_5'UTR|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|TMF1_ENST00000398559.2_Splice_Site_p.E920_splice|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000597366.1_RNA	p.E923_splice	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)	14	3013	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	920					B7ZLJ2|Q17R87|Q59GK0	Splice_Site	SNP	ENST00000398559.2	37	c.2766_splice	CCDS43105.1	.	.	.	.	.	.	.	.	.	.	C	43	10.387890	0.99396	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248	.	.	.	5.04	5.04	0.67666	.	0.102796	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-9.8636	12.6223	0.56610	0.0:0.9126:0.0:0.0874	.	.	.	.	X	920;923;836	.	ENSP00000348582:E836X	E	-	1	0	TMF1	69157938	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.738000	0.68613	2.495000	0.84180	0.585000	0.79938	GAA		0.388	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114	Nonsense_Mutation	3	40	1	0	0.150653	0.150653	0.152837	3	40				
CSF1R	1436	broad.mit.edu	37	5	149452922	149452922	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr5:149452922A>G	ENST00000286301.3	-	7	1315	c.1024T>C	c.(1024-1026)Ttt>Ctt	p.F342L	CSF1R_ENST00000543093.1_Intron	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	342	Ig-like C2-type 4.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TGGTCAGAAAAGGGTCCCAGG	0.567																																						ENST00000286301.3																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93						c.(1024-1026)Ttt>Ctt		colony stimulating factor 1 receptor	Imatinib(DB00619)|Sunitinib(DB01268)						222.0	206.0	211.0					5																	149452922		2203	4300	6503	SO:0001583	missense	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149452922A>G	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.1024T>C	5.37:g.149452922A>G	ENSP00000286301:p.Phe342Leu					CSF1R_ENST00000543093.1_Intron	p.F342L	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		7	1315	-			342			Ig-like C2-type 4.		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	37	c.1024T>C	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	A	13.81	2.346743	0.41599	.	.	ENSG00000182578	ENST00000286301;ENST00000394307	T	0.75154	-0.91	4.81	3.57	0.40892	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.126288	0.36134	N	0.002776	T	0.61527	0.2354	L	0.50333	1.59	0.58432	D	0.999999	B;B	0.27068	0.069;0.167	B;B	0.27500	0.032;0.08	T	0.52162	-0.8612	10	0.07482	T	0.82	.	7.8672	0.29543	0.7895:0.2105:0.0:0.0	.	194;342	B4E2Y8;P07333	.;CSF1R_HUMAN	L	342;194	ENSP00000286301:F342L	ENSP00000286301:F342L	F	-	1	0	CSF1R	149433115	1.000000	0.71417	0.673000	0.29887	0.548000	0.35241	2.565000	0.45939	1.808000	0.52836	0.533000	0.62120	TTT		0.567	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		4	254	0	0	0	0.217242	0	4	254				
DPP6	1804	broad.mit.edu	37	7	154379675	154379675	+	Intron	SNP	C	C	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr7:154379675C>T	ENST00000377770.3	+	6	768				DPP6_ENST00000427557.1_Intron|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000406326.1_Missense_Mutation_p.L315F			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6						cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ACCTGCAGCCCTCAGGCAGCA	0.587																																					NSCLC(125;1384 1783 2490 7422 34254)	ENST00000406326.1																			0				NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71						c.(943-945)Ctc>Ttc		dipeptidyl-peptidase 6							171.0	151.0	157.0					7																	154379675		876	1991	2867	SO:0001627	intron_variant	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154379675C>T	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.628-49856C>T	7.37:g.154379675C>T						DPP6_ENST00000377770.3_Intron|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000427557.1_Intron|DPP6_ENST00000404039.1_Intron	p.L315F			P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		6	1346	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	0						Missense_Mutation	SNP	ENST00000377770.3	37	c.943C>T		.	.	.	.	.	.	.	.	.	.	C	4.067	0.010213	0.07912	.	.	ENSG00000130226	ENST00000406326	.	.	.	2.76	0.881	0.19166	.	.	.	.	.	T	0.22975	0.0555	.	.	.	0.09310	N	1	B	0.33135	0.399	B	0.28709	0.093	T	0.21586	-1.0241	7	0.87932	D	0	.	3.4215	0.07395	0.25:0.6089:0.0:0.1411	.	315	Q8IYG9	.	F	315	.	ENSP00000384393:L315F	L	+	1	0	DPP6	154010608	0.000000	0.05858	0.001000	0.08648	0.045000	0.14185	0.067000	0.14510	0.200000	0.20447	-0.521000	0.04368	CTC		0.587	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		69	112	0	0	0	0.870114	0	69	112				
TOP3B	8940	broad.mit.edu	37	22	22324625	22324625	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr22:22324625C>T	ENST00000398793.2	-	6	972	c.538G>A	c.(538-540)Gct>Act	p.A180T	TOP3B_ENST00000413067.2_Intron|TOP3B_ENST00000357179.5_Missense_Mutation_p.A180T	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	180					chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TCCTGGCGAGCATCCACTGAG	0.622																																						ENST00000398793.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26						c.(538-540)Gct>Act		topoisomerase (DNA) III beta							80.0	67.0	72.0					22																	22324625		2203	4300	6503	SO:0001583	missense	8940				DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding	g.chr22:22324625C>T	AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.538G>A	22.37:g.22324625C>T	ENSP00000381773:p.Ala180Thr					TOP3B_ENST00000357179.5_Missense_Mutation_p.A180T|TOP3B_ENST00000413067.2_Intron	p.A180T	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	6	972	-	Colorectal(54;0.105)		180					A0M8Q3|Q9BUP5	Missense_Mutation	SNP	ENST00000398793.2	37	c.538G>A	CCDS13797.1	.	.	.	.	.	.	.	.	.	.	C	36	5.711980	0.96830	.	.	ENSG00000100038	ENST00000357179;ENST00000398793;ENST00000424393	T;T;T	0.30714	1.52;1.52;1.52	4.77	3.75	0.43078	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, domain 2 (1);DNA topoisomerase, type IA, central region, subdomain 1 (1);	0.000000	0.85682	D	0.000000	T	0.50343	0.1610	M	0.74881	2.28	0.80722	D	1	D	0.57899	0.981	P	0.59595	0.86	T	0.57171	-0.7857	10	0.87932	D	0	0.0418	13.2482	0.60036	0.0:0.9231:0.0:0.0769	.	180	O95985	TOP3B_HUMAN	T	180	ENSP00000349705:A180T;ENSP00000381773:A180T;ENSP00000390977:A180T	ENSP00000349705:A180T	A	-	1	0	TOP3B	20654625	1.000000	0.71417	0.977000	0.42913	0.966000	0.64601	7.607000	0.82883	1.241000	0.43820	0.555000	0.69702	GCT		0.622	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1	NM_003935		7	72	0	0	0	0.307466	0	7	72				
PPP1R18	170954	broad.mit.edu	37	6	30653494	30653496	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr6:30653494_30653496delTGC	ENST00000274853.3	-	1	2176_2178	c.300_302delGCA	c.(298-303)cagcaa>caa	p.100_101QQ>Q	NRM_ENST00000470733.1_5'Flank|PPP1R18_ENST00000399199.3_In_Frame_Del_p.100_101QQ>Q|PPP1R18_ENST00000488324.1_Intron	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	100	Poly-Gln.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.Q100Q(1)									CCGTtgttgttgctgctgctgct	0.65																																						ENST00000274853.3																			1	Substitution - coding silent(1)	p.Q100Q(1)	large_intestine(1)								c.(298-303)caa>ca		protein phosphatase 1, regulatory subunit 18			,	3,113,6,2396		0,0,0,3,5,0,103,1,4,1143					,	0.5	0.9		dbSNP_130	42	2,260,1,5209		0,0,0,2,9,0,242,0,1,2482	no	codingComplex,codingComplex	KIAA1949	NM_133471.3,NM_001134870.1	,	0,0,0,5,14,0,345,1,5,3625	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		4.8063,4.8451,4.8185	,	,		5,373,7,7605				SO:0001651	inframe_deletion	170954					cytoplasm|cytoskeleton	actin binding	g.chr6:30653494_30653496delTGC	AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29413	protein-coding gene	gene with protein product	"""protein phosphatase 1 F-actin cytoskeleton targeting subunit"""	610990	"""KIAA1949"""	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.300_302delGCA	6.37:g.30653503_30653505delTGC	ENSP00000274853:p.Gln103del					PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_In_Frame_Del_p.QQ102del	p.QQ102del	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN			1	2176_2178	-			102			Poly-Gln.		A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	In_Frame_Del	DEL	ENST00000274853.3	37	c.300_302delGCA	CCDS43444.1																																																																																				0.650	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2	NM_133471		7	90						7	90	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55587198	55587200	+	In_Frame_Del	DEL	GGC	GGC	-	rs12246234		TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr10:55587198_55587200delGGC	ENST00000320301.6	-	32	4714_4716	c.4320_4322delGCC	c.(4318-4323)ccgcct>cct	p.1440_1441PP>P	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_In_Frame_Del_p.1369_1370PP>P|PCDH15_ENST00000395432.2_In_Frame_Del_p.1400_1401PP>P|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_In_Frame_Del_p.1415_1416PP>P|PCDH15_ENST00000395430.1_In_Frame_Del_p.1437_1438PP>P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_In_Frame_Del_p.1447_1448PP>P|PCDH15_ENST00000361849.3_In_Frame_Del_p.1440_1441PP>P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000409834.1_In_Frame_Del_p.1051_1052PP>P|PCDH15_ENST00000414778.1_In_Frame_Del_p.1442_1443PP>P|PCDH15_ENST00000395438.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_ENST00000395445.1_In_Frame_Del_p.1447_1448PP>P	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1440	Poly-Pro.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACCTggcggaggcggcggcggcg	0.571										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4339-4344)cct>cc		protocadherin-related 15																																				SO:0001651	inframe_deletion	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55587198_55587200delGGC	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4320_4322delGCC	10.37:g.55587207_55587209delGGC	ENSP00000322604:p.Pro1443del	HNSCC(58;0.16)				PCDH15_ENST00000320301.6_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395438.1_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395445.1_In_Frame_Del_p.PP1449del|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000361849.3_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_In_Frame_Del_p.PP1417del|PCDH15_ENST00000409834.1_In_Frame_Del_p.PP1053del|PCDH15_ENST00000395432.2_In_Frame_Del_p.PP1402del|PCDH15_ENST00000414778.1_In_Frame_Del_p.PP1444del|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_In_Frame_Del_p.PP1371del|PCDH15_ENST00000395430.1_In_Frame_Del_p.PP1439del|PCDH15_ENST00000395440.1_Intron	p.PP1449del	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			33	4735_4737	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1442					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	In_Frame_Del	DEL	ENST00000320301.6	37	c.4341_4343delGCC	CCDS7248.1																																																																																				0.571	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		7	148						7	148	---	---	---	---
RP11-597A11.1	0	broad.mit.edu	37	14	20086237	20086237	+	RNA	DEL	T	T	-	rs569592353|rs373441912	byFrequency	TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr14:20086237delT	ENST00000548261.1	+	0	51																											GGTGTGTGTGTGGGGGGGTAT	0.388													|||unknown(STR2?)	915	0.182708	0.2443	0.1686	5008	,	,		35626	0.1429		0.1511	False		,,,				2504	0.183					ENST00000548261.1																			0																																																			0							g.chr14:20086237delT																													14.37:g.20086237delT														0	51	+									RNA	DEL	ENST00000548261.1	37																																																																																						0.388	RP11-597A11.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409571.1			4	8						4	8	---	---	---	---
FXR2	9513	broad.mit.edu	37	17	7495872	7495874	+	In_Frame_Del	DEL	CGG	CGG	-	rs376204328		TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr17:7495872_7495874delCGG	ENST00000250113.7	-	15	2107_2109	c.1773_1775delCCG	c.(1771-1776)cgccgt>cgt	p.591_592RR>R	MPDU1_ENST00000423172.2_3'UTR|SOX15_ENST00000250055.2_5'Flank|SOX15_ENST00000538513.2_5'Flank|SOX15_ENST00000570788.1_5'Flank|FXR2_ENST00000573057.1_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	591	Poly-Arg.		R -> P (in dbSNP:rs36013555).			cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ACCACGGTTACGGCGGCGGCGGC	0.547																																						ENST00000250113.7																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(1771-1776)cgt>cg		fragile X mental retardation, autosomal homolog 2																																				SO:0001651	inframe_deletion	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7495872_7495874delCGG	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1773_1775delCCG	17.37:g.7495881_7495883delCGG	ENSP00000250113:p.Arg592del					MPDU1_ENST00000423172.2_3'UTR	p.RR591del	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	15	2107_2109	-			591		R -> P (in dbSNP:rs36013555).	Poly-Arg.		B2R9M2|D3DTQ1|Q86V09|Q8WUM2	In_Frame_Del	DEL	ENST00000250113.7	37	c.1773_1775delCCG	CCDS45604.1																																																																																				0.547	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			11	471						11	471	---	---	---	---
MED26	9441	broad.mit.edu	37	19	16688490	16688490	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr19:16688490delT	ENST00000263390.3	-	3	413	c.151delA	c.(151-153)acafs	p.T51fs	CTD-3222D19.2_ENST00000409035.1_Frame_Shift_Del_p.T59fs|CTC-429P9.4_ENST00000593962.1_5'UTR	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	51	TFIIS N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00649}.				gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						CCAAGTCGTGTTTCCTACAAC	0.537																																						ENST00000263390.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						c.(151-153)cafs		mediator complex subunit 26							39.0	42.0	41.0					19																	16688490		2203	4300	6503	SO:0001589	frameshift_variant	9441				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity	g.chr19:16688490delT	AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"""cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"""	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.151delA	19.37:g.16688490delT	ENSP00000263390:p.Thr51fs					CTD-3222D19.2_ENST00000409035.1_Frame_Shift_Del_p.T59fs|CTC-429P9.4_ENST00000593962.1_5'UTR	p.T51fs	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN			3	413	-			51			TFIIS N-terminal.		A1A4S3|Q0VGB6	Frame_Shift_Del	DEL	ENST00000263390.3	37	c.151delA	CCDS12347.1																																																																																				0.537	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461178.1	NM_004831		23	44						23	44	---	---	---	---
ARFGAP3	26286	broad.mit.edu	37	22	43213780	43213780	+	Frame_Shift_Del	DEL	T	T	-	rs552164906		TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr22:43213780delT	ENST00000263245.5	-	10	1115	c.896delA	c.(895-897)aatfs	p.N299fs	ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs|ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	299					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TGAGTCAACATTTTTTTTGCC	0.363																																					GBM(58;544 1030 21460 27159 48838)	ENST00000263245.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						c.(895-897)atfs		ADP-ribosylation factor GTPase activating protein 3							317.0	285.0	296.0					22																	43213780		2203	4300	6503	SO:0001589	frameshift_variant	26286				intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding	g.chr22:43213780delT	AK002083	CCDS14042.1, CCDS46722.1	22q13.2	2009-11-30	2002-08-20	2002-08-23	ENSG00000242247	ENSG00000242247		"""ADP-ribosylation factor GTPase activating proteins"""	661	protein-coding gene	gene with protein product		612439	"""ADP-ribosylation factor GTPase activating protein 1"""	ARFGAP1		10704287, 11172815	Standard	NM_014570		Approved		uc003bdd.2	Q9NP61	OTTHUMG00000150718	ENST00000263245.5:c.896delA	22.37:g.43213780delT	ENSP00000263245:p.Asn299fs					ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs|ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs	p.N299fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN			10	1115	-			299					E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Frame_Shift_Del	DEL	ENST00000263245.5	37	c.896delA	CCDS14042.1																																																																																				0.363	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319747.2	NM_014570		8	183						8	183	---	---	---	---
SHROOM4	57477	broad.mit.edu	37	X	50350672	50350674	+	In_Frame_Del	DEL	TCT	TCT	-	rs3747282	byFrequency	TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chrX:50350672_50350674delTCT	ENST00000289292.7	-	6	3751_3753	c.3468_3470delAGA	c.(3466-3471)gaagag>gag	p.1156_1157EE>E	SHROOM4_ENST00000376020.2_In_Frame_Del_p.1156_1157EE>E|SHROOM4_ENST00000460112.3_In_Frame_Del_p.1040_1041EE>E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1156	Glu-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)	p.E1156E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TGGCAGctcctcttcctcctcct	0.557																																						ENST00000376020.2																			1	Substitution - coding silent(1)	p.E1156E(1)	skin(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(3466-3471)gag>ga		shroom family member 4																																				SO:0001651	inframe_deletion	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50350672_50350674delTCT	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3468_3470delAGA	X.37:g.50350672_50350674delTCT	ENSP00000289292:p.Glu1158del					SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1156del|SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1040del	p.EE1156del	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			6	3493_3495	-	Ovarian(276;0.236)		1156			Glu-rich.		A7E2X9|D6RFW0|Q96LA0	In_Frame_Del	DEL	ENST00000289292.7	37	c.3468_3470delAGA	CCDS35277.1																																																																																				0.557	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		4	7						4	7	---	---	---	---
