#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
RNF181	51255	broad.mit.edu	37	2	85822908	85822908	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr2:85822908C>T	ENST00000306368.4	+	1	52	c.22C>T	c.(22-24)Cac>Tac	p.H8Y	RNF181_ENST00000441634.1_Missense_Mutation_p.H8Y	NM_016494.3	NP_057578.1	Q9P0P0	RN181_HUMAN	ring finger protein 181	8					protein autoubiquitination (GO:0051865)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			lung(1)|stomach(1)	2						TTTCGATGAACACGACTGCGA	0.632																																						ENST00000441634.1																			0				lung(1)|stomach(1)	2						c.(22-24)Cac>Tac		ring finger protein 181							41.0	36.0	37.0					2																	85822908		2203	4300	6503	SO:0001583	missense	51255						ligase activity|zinc ion binding	g.chr2:85822908C>T	AF151072	CCDS1981.1	2p11.2	2013-01-09			ENSG00000168894	ENSG00000168894		"""RING-type (C3HC4) zinc fingers"""	28037	protein-coding gene	gene with protein product		612490				11042152	Standard	XM_005264359		Approved	HSPC238	uc002spv.1	Q9P0P0	OTTHUMG00000130182	ENST00000306368.4:c.22C>T	2.37:g.85822908C>T	ENSP00000306906:p.His8Tyr					RNF181_ENST00000306368.4_Missense_Mutation_p.H8Y	p.H8Y			Q9P0P0	RN181_HUMAN			1	61	+			8					Q53H81	Missense_Mutation	SNP	ENST00000306368.4	37	c.22C>T	CCDS1981.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134418	0.77662	.	.	ENSG00000168894	ENST00000441634;ENST00000306368;ENST00000414390	D;D	0.90069	-2.61;-2.61	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.85609	0.5736	M	0.72118	2.19	0.58432	D	0.999999	P	0.39282	0.666	B	0.35039	0.194	D	0.83996	0.0340	10	0.02654	T	1	.	16.7735	0.85545	0.0:1.0:0.0:0.0	.	8	Q9P0P0	RN181_HUMAN	Y	8	ENSP00000412025:H8Y;ENSP00000306906:H8Y	ENSP00000306906:H8Y	H	+	1	0	RNF181	85676419	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	6.232000	0.72313	2.573000	0.86826	0.561000	0.74099	CAC		0.632	RNF181-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252500.1	NM_016494		3	32	3	32	---	---	---	---
CHL1	10752	broad.mit.edu	37	3	432831	432831	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr3:432831C>T	ENST00000256509.2	+	22	3422	c.2780C>T	c.(2779-2781)aCa>aTa	p.T927I	CHL1_ENST00000397491.2_Missense_Mutation_p.T911I	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ATATTTCAAACACCAGAAGGA	0.408																																						ENST00000256509.2																			0				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.(2779-2781)aCa>aTa		cell adhesion molecule L1-like							69.0	73.0	71.0					3																	432831		2201	4298	6499	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:432831C>T	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.2780C>T	3.37:g.432831C>T	ENSP00000256509:p.Thr927Ile					CHL1_ENST00000397491.2_Missense_Mutation_p.T911I	p.T927I	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	22	3422	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	911			Fibronectin type-III 4.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.2780C>T	CCDS2556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.6|26.6	4.755880|4.755880	0.89843|0.89843	.|.	.|.	ENSG00000134121|ENSG00000134121	ENST00000445697|ENST00000256509;ENST00000397491	.|T;T	.|0.64803	.|-0.12;-0.12	5.75|5.75	5.75|5.75	0.90469|0.90469	.|Fibronectin, type III (3);Immunoglobulin-like fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84092|0.84092	0.5396|0.5396	M|M	0.90019|0.90019	3.08|3.08	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;0.997	.|D;D;D	.|0.83275	.|0.996;0.996;0.983	D|D	0.86599|0.86599	0.1865|0.1865	5|10	.|0.87932	.|D	.|0	.|.	19.9244|19.9244	0.97099|0.97099	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|911;911;927	.|B3KX75;O00533;O00533-2	.|.;CHL1_HUMAN;.	Y|I	114|927;911	.|ENSP00000256509:T927I;ENSP00000380628:T911I	.|ENSP00000256509:T927I	H|T	+|+	1|2	0|0	CHL1|CHL1	407831|407831	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.955000|0.955000	0.61496|0.61496	7.087000|7.087000	0.76893|0.76893	2.712000|2.712000	0.92718|0.92718	0.655000|0.655000	0.94253|0.94253	CAC|ACA		0.408	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		7	60	7	60	---	---	---	---
C3orf62	375341	broad.mit.edu	37	3	49313859	49313859	+	Splice_Site	SNP	C	C	A	rs368106088		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr3:49313859C>A	ENST00000343010.3	-	1	1483		c.e1+1		MIR4271_ENST00000582451.1_RNA	NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62											breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ATTAGAATCACCTTAAATTTT	0.383																																						ENST00000343010.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.e1+1		chromosome 3 open reading frame 62		C		1,4405	2.1+/-5.4	0,1,2202	83.0	79.0	81.0			4.8	1.0	3		81	0,8600		0,0,4300	no	splice-5	C3orf62	NM_198562.2		0,1,6502	AA,AC,CC		0.0,0.0227,0.0077			49313859	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	375341							g.chr3:49313859C>A	AK125642	CCDS2792.1	3p21.31	2006-02-11			ENSG00000188315	ENSG00000188315			24771	protein-coding gene	gene with protein product						12477932	Standard	NM_198562		Approved	FLJ43654	uc003cwn.2	Q6ZUJ4	OTTHUMG00000156819	ENST00000343010.3:c.446+1G>T	3.37:g.49313859C>A								NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	1483	-								Q6P7E9|Q7Z3X6	Splice_Site	SNP	ENST00000343010.3	37		CCDS2792.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.428154	0.62844	2.27E-4	0.0	ENSG00000188315	ENST00000343010;ENST00000436325	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2104	0.59821	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C3orf62	49288863	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	3.939000	0.56591	2.490000	0.84030	0.650000	0.86243	.		0.383	C3orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345990.1	NM_198562	Intron	5	64	5	64	---	---	---	---
VGLL3	389136	broad.mit.edu	37	3	87018023	87018023	+	Silent	SNP	G	G	A	rs368628256		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr3:87018023G>A	ENST00000398399.2	-	3	1017	c.654C>T	c.(652-654)tcC>tcT	p.S218S	VGLL3_ENST00000383698.3_Silent_p.S218S	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TATGGCTGTAGGATGGGCTCA	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		17442	0.001		0.0	False		,,,				2504	0.0					ENST00000398399.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19						c.(652-654)tcC>tcT		vestigial like 3 (Drosophila)							86.0	90.0	88.0					3																	87018023		2166	4274	6440	SO:0001819	synonymous_variant	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87018023G>A	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.654C>T	3.37:g.87018023G>A						VGLL3_ENST00000383698.3_Silent_p.S218S	p.S218S	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	3	1017	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	218						Silent	SNP	ENST00000398399.2	37	c.654C>T	CCDS43110.1																																																																																				0.607	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		34	95	34	95	---	---	---	---
ZBTB11	27107	broad.mit.edu	37	3	101383903	101383903	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr3:101383903G>A	ENST00000312938.4	-	4	2108	c.1528C>T	c.(1528-1530)Cgt>Tgt	p.R510C	Y_RNA_ENST00000364251.1_RNA	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	510					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TTAACAGAACGTTGTCGAAGC	0.428																																						ENST00000312938.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1528-1530)Cgt>Tgt		zinc finger and BTB domain containing 11							199.0	185.0	189.0					3																	101383903		2203	4300	6503	SO:0001583	missense	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101383903G>A	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.1528C>T	3.37:g.101383903G>A	ENSP00000326200:p.Arg510Cys						p.R510C	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN			4	2108	-			510					Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	37	c.1528C>T	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.537879	0.45176	.	.	ENSG00000066422	ENST00000312938	T	0.14266	2.52	6.03	6.03	0.97812	.	0.052424	0.85682	D	0.000000	T	0.12135	0.0295	L	0.34521	1.04	0.80722	D	1	B	0.27068	0.167	B	0.17433	0.018	T	0.02683	-1.1124	10	0.66056	D	0.02	-18.8379	13.7134	0.62682	0.0699:0.0:0.9301:0.0	.	510	O95625	ZBT11_HUMAN	C	510	ENSP00000326200:R510C	ENSP00000326200:R510C	R	-	1	0	ZBTB11	102866593	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.489000	0.66875	2.861000	0.98227	0.655000	0.94253	CGT		0.428	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		9	119	9	119	---	---	---	---
IQCB1	9657	broad.mit.edu	37	3	121500652	121500652	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr3:121500652G>C	ENST00000310864.6	-	13	1562	c.1348C>G	c.(1348-1350)Ctc>Gtc	p.L450V	IQCB1_ENST00000349820.6_Missense_Mutation_p.L317V	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	450					cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		GCATCAGTGAGTTCTTGGAGT	0.403																																						ENST00000310864.6																			0				NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30						c.(1348-1350)Ctc>Gtc		IQ motif containing B1							155.0	145.0	148.0					3																	121500652		2203	4300	6503	SO:0001583	missense	9657				cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding	g.chr3:121500652G>C	D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"""nephrocystin-5"""	609237	"""IQ calmodulin-binding motif containing 1"""			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.1348C>G	3.37:g.121500652G>C	ENSP00000311505:p.Leu450Val					IQCB1_ENST00000349820.6_Missense_Mutation_p.L317V	p.L450V	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0983)	13	1562	-			450					Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Missense_Mutation	SNP	ENST00000310864.6	37	c.1348C>G	CCDS33837.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577730	0.45902	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	T;T	0.79247	-1.25;-1.25	4.61	3.74	0.42951	.	0.000000	0.85682	D	0.000000	D	0.83445	0.5256	M	0.66939	2.045	0.44780	D	0.997786	P;D	0.63880	0.956;0.993	D;P	0.65010	0.931;0.826	T	0.83277	-0.0040	10	0.54805	T	0.06	-1.1316	8.9681	0.35890	0.1015:0.0:0.8985:0.0	.	450;317	Q15051;Q15051-2	IQCB1_HUMAN;.	V	450;317	ENSP00000311505:L450V;ENSP00000323756:L317V	ENSP00000311505:L450V	L	-	1	0	IQCB1	122983342	1.000000	0.71417	0.976000	0.42696	0.866000	0.49608	3.513000	0.53414	1.293000	0.44690	0.591000	0.81541	CTC		0.403	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1	NM_014642		3	67	3	67	---	---	---	---
WDR49	151790	broad.mit.edu	37	3	167319938	167319938	+	Missense_Mutation	SNP	G	G	T	rs201698456		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr3:167319938G>T	ENST00000308378.3	-	3	534	c.229C>A	c.(229-231)Ctt>Att	p.L77I	WDR49_ENST00000479765.1_Missense_Mutation_p.L418I|WDR49_ENST00000453925.2_Missense_Mutation_p.L130I	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	77										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AAGCTGAAAAGTTGTTTTCTT	0.408													G|||	1	0.000199681	0.0	0.0	5008	,	,		17094	0.0		0.001	False		,,,				2504	0.0					ENST00000308378.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(229-231)Ctt>Att		WD repeat domain 49		G	ILE/LEU	0,4406		0,0,2203	90.0	91.0	90.0		229	5.3	1.0	3		90	6,8594	5.0+/-18.6	0,6,4294	yes	missense	WDR49	NM_178824.3	5	0,6,6497	TT,TG,GG		0.0698,0.0,0.0461	probably-damaging	77/698	167319938	6,13000	2203	4300	6503	SO:0001583	missense	151790							g.chr3:167319938G>T	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.229C>A	3.37:g.167319938G>T	ENSP00000311343:p.Leu77Ile					WDR49_ENST00000479765.1_Missense_Mutation_p.L418I|WDR49_ENST00000453925.2_Missense_Mutation_p.L130I	p.L77I	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN			3	534	-			77					Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.229C>A	CCDS3201.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	14.34|14.34	2.504858|2.504858	0.44558|0.44558	0.0|0.0	6.98E-4|6.98E-4	ENSG00000174776|ENSG00000174776	ENST00000308378;ENST00000479765;ENST00000453925|ENST00000472600	T;T;T|.	0.65549|.	-0.16;1.21;-0.16|.	5.34|5.34	5.34|5.34	0.76211|0.76211	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.133347|.	0.49916|.	D|.	0.000122|.	T|T	0.58481|0.58481	0.2125|0.2125	L|L	0.33293|0.33293	1|1	0.35249|0.35249	D|D	0.778475|0.778475	D;D;D|.	0.69078|.	0.957;0.981;0.997|.	P;P;P|.	0.62649|.	0.71;0.8;0.905|.	T|T	0.63492|0.63492	-0.6625|-0.6625	10|5	0.17832|.	T|.	0.49|.	.|.	17.8251|17.8251	0.88662|0.88662	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	130;418;77|.	E7EQK3;E9PDB0;Q8IV35|.	.;.;WDR49_HUMAN|.	I|K	77;418;130|141	ENSP00000311343:L77I;ENSP00000419749:L418I;ENSP00000410863:L130I|.	ENSP00000311343:L77I|.	L|N	-|-	1|3	0|2	WDR49|WDR49	168802632|168802632	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	6.916000|6.916000	0.75776|0.75776	2.484000|2.484000	0.83849|0.83849	0.557000|0.557000	0.71058|0.71058	CTT|AAC		0.408	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		26	83	26	83	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178936094	178936094	+	Missense_Mutation	SNP	C	C	A	rs121913286		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr3:178936094C>A	ENST00000263967.3	+	10	1793	c.1636C>A	c.(1636-1638)Cag>Aag	p.Q546K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		Q -> E (in BC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> K (in OC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> P (found in an anaplastic astrocytoma sample; unknown pathological significance). {ECO:0000269|PubMed:15289301}.|Q -> R (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.Q546K(89)|p.Q546E(12)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATCACTGAGCAGGAGAAAGA	0.358		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		101	Substitution - Missense(101)	p.Q546K(89)|p.Q546E(12)	large_intestine(55)|breast(17)|endometrium(15)|central_nervous_system(3)|lung(3)|ovary(3)|skin(2)|cervix(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1636-1638)Cag>Aag		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							61.0	61.0	61.0					3																	178936094		1814	4072	5886	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936094C>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1636C>A	3.37:g.178936094C>A	ENSP00000263967:p.Gln546Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.Q546K	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1793	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		546		Q -> E (in cancer).|Q -> K (in cancer).|Q -> P (in cancer).|Q -> R (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1636C>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838482	0.91117	.	.	ENSG00000121879	ENST00000263967	T	0.62232	0.04	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75191	0.3816	M	0.64404	1.975	0.80722	D	1	D	0.58970	0.984	P	0.58660	0.843	T	0.73833	-0.3858	10	0.46703	T	0.11	-14.2064	20.0024	0.97423	0.0:1.0:0.0:0.0	.	546	P42336	PK3CA_HUMAN	K	546	ENSP00000263967:Q546K	ENSP00000263967:Q546K	Q	+	1	0	PIK3CA	180418788	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.487000	0.81328	2.722000	0.93159	0.467000	0.42956	CAG		0.358	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			4	62	4	62	---	---	---	---
GRM4	2914	broad.mit.edu	37	6	34003799	34003799	+	Silent	SNP	G	G	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr6:34003799G>A	ENST00000538487.2	-	9	2531	c.2088C>T	c.(2086-2088)ccC>ccT	p.P696P	GRM4_ENST00000455714.2_Silent_p.P556P|GRM4_ENST00000544773.2_Silent_p.P527P|GRM4_ENST00000374177.3_Silent_p.P580P|GRM4_ENST00000609222.1_Silent_p.P563P|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374181.4_Silent_p.P696P|GRM4_ENST00000535756.1_Silent_p.P563P	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	696					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.A697fs*126(2)|p.A581fs*126(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GCTGTGAGGCGGGGCTGATGA	0.617																																						ENST00000538487.2																			3	Deletion - Frameshift(3)	p.A697fs*126(2)|p.A581fs*126(1)	large_intestine(3)	NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2086-2088)ccC>ccT		glutamate receptor, metabotropic 4	L-Glutamic Acid(DB00142)						110.0	121.0	117.0					6																	34003799		2203	4300	6503	SO:0001819	synonymous_variant	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34003799G>A	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.2088C>T	6.37:g.34003799G>A						GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374181.4_Silent_p.P696P|GRM4_ENST00000609222.1_Silent_p.P563P|GRM4_ENST00000455714.2_Silent_p.P556P|GRM4_ENST00000374177.3_Silent_p.P580P|GRM4_ENST00000535756.1_Silent_p.P563P|GRM4_ENST00000544773.2_Silent_p.P527P	p.P696P	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN			9	2531	-								B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Silent	SNP	ENST00000538487.2	37	c.2088C>T	CCDS4787.1																																																																																				0.617	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			6	133	6	133	---	---	---	---
SIM1	6492	broad.mit.edu	37	6	100841376	100841376	+	Silent	SNP	G	G	T			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr6:100841376G>T	ENST00000369208.3	-	11	2339	c.1557C>A	c.(1555-1557)gtC>gtA	p.V519V	SIM1_ENST00000262901.4_Silent_p.V519V			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	519	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGATCCTGTGGACTGAAGCGA	0.552																																						ENST00000369208.3																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(1555-1557)gtC>gtA		single-minded family bHLH transcription factor 1							110.0	104.0	106.0					6																	100841376		2203	4300	6503	SO:0001819	synonymous_variant	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100841376G>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1557C>A	6.37:g.100841376G>T						SIM1_ENST00000262901.4_Silent_p.V519V	p.V519V			P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	11	2339	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	519			Single-minded C-terminal.		Q5TDP7	Silent	SNP	ENST00000369208.3	37	c.1557C>A	CCDS5045.1																																																																																				0.552	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		10	94	10	94	---	---	---	---
NPVF	64111	broad.mit.edu	37	7	25264785	25264785	+	Silent	SNP	G	G	A	rs572195157		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr7:25264785G>A	ENST00000222674.2	-	3	593	c.547C>T	c.(547-549)Cta>Tta	p.L183L		NM_022150.3	NP_071433	Q9HCQ7	NPVF_HUMAN	neuropeptide VF precursor	183					negative regulation of gonadotropin secretion (GO:0032277)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						TTCTTGAATAGCAGTCTCCTA	0.378																																						ENST00000222674.2																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						c.(547-549)Cta>Tta		neuropeptide VF precursor							184.0	175.0	178.0					7																	25264785		2203	4300	6503	SO:0001819	synonymous_variant	64111				neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity	g.chr7:25264785G>A	AB040290	CCDS5395.1	7p21-p15	2013-02-28	2006-10-06	2006-10-06	ENSG00000105954	ENSG00000105954		"""Endogenous ligands"""	13782	protein-coding gene	gene with protein product	"""RFamide-related peptide precursor"", ""FMRFamide-related peptide precursor"""		"""chromosome 7 open reading frame 9"""	C7orf9		11951088, 11173868	Standard	NM_022150		Approved	RFRP	uc003sxo.3	Q9HCQ7	OTTHUMG00000128509	ENST00000222674.2:c.547C>T	7.37:g.25264785G>A							p.L183L	NM_022150.3	NP_071433	Q9HCQ7	RFRP_HUMAN			3	593	-			183					A4D164|Q7LE27|Q96PI9	Silent	SNP	ENST00000222674.2	37	c.547C>T	CCDS5395.1																																																																																				0.378	NPVF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250315.1	NM_022150		14	46	14	46	---	---	---	---
KAT6B	23522	broad.mit.edu	37	10	76788961	76788961	+	Nonsense_Mutation	SNP	T	T	G			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr10:76788961T>G	ENST00000287239.4	+	18	4868	c.4379T>G	c.(4378-4380)tTa>tGa	p.L1460*	KAT6B_ENST00000372711.1_Nonsense_Mutation_p.L1277*|KAT6B_ENST00000372714.1_Nonsense_Mutation_p.L1168*|KAT6B_ENST00000372724.1_Nonsense_Mutation_p.L1168*|KAT6B_ENST00000372725.1_Nonsense_Mutation_p.L1168*	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1460					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GAGACTTTTTTAGACCTTAAT	0.507																																						ENST00000287239.4																			0											c.(4378-4380)tTa>tGa		K(lysine) acetyltransferase 6B							68.0	75.0	73.0					10																	76788961		2203	4300	6503	SO:0001587	stop_gained	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76788961T>G	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.4379T>G	10.37:g.76788961T>G	ENSP00000287239:p.Leu1460*					KAT6B_ENST00000372714.1_Nonsense_Mutation_p.L1168*|KAT6B_ENST00000372724.1_Nonsense_Mutation_p.L1168*|KAT6B_ENST00000372725.1_Nonsense_Mutation_p.L1168*|KAT6B_ENST00000372711.1_Nonsense_Mutation_p.L1277*	p.L1460*	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			18	4868	+			1460					O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Nonsense_Mutation	SNP	ENST00000287239.4	37	c.4379T>G	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	T	40	8.525424	0.98848	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	.	.	.	4.81	4.81	0.61882	.	0.000000	0.39407	N	0.001363	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.1057	14.3656	0.66803	0.0:0.0:0.0:1.0	.	.	.	.	X	1168;1168;1460;1168;1277	.	ENSP00000287239:L1460X	L	+	2	0	KAT6B	76458967	1.000000	0.71417	1.000000	0.80357	0.525000	0.34531	3.946000	0.56644	1.804000	0.52760	0.533000	0.62120	TTA		0.507	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		3	51	3	51	---	---	---	---
DMBT1	1755	broad.mit.edu	37	10	124392786	124392786	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr10:124392786C>A	ENST00000338354.3	+	49	6196	c.6090C>A	c.(6088-6090)aaC>aaA	p.N2030K	DMBT1_ENST00000368955.3_Missense_Mutation_p.N2020K|DMBT1_ENST00000359586.6_Missense_Mutation_p.N750K|DMBT1_ENST00000368956.2_Missense_Mutation_p.N1402K|DMBT1_ENST00000330163.4_Missense_Mutation_p.N1402K|DMBT1_ENST00000344338.3_Missense_Mutation_p.N2020K|DMBT1_ENST00000368909.3_Missense_Mutation_p.N2030K			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2030	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ACTATCCAAACAATGCCAAGT	0.498																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(6088-6090)aaC>aaA		deleted in malignant brain tumors 1							150.0	146.0	147.0					10																	124392786		1957	4154	6111	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124392786C>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.6090C>A	10.37:g.124392786C>A	ENSP00000342210:p.Asn2030Lys					DMBT1_ENST00000330163.4_Missense_Mutation_p.N1402K|DMBT1_ENST00000368909.3_Missense_Mutation_p.N2030K|DMBT1_ENST00000368955.3_Missense_Mutation_p.N2020K|DMBT1_ENST00000368956.2_Missense_Mutation_p.N1402K|DMBT1_ENST00000344338.3_Missense_Mutation_p.N2020K|DMBT1_ENST00000359586.6_Missense_Mutation_p.N750K	p.N2030K			Q9UGM3	DMBT1_HUMAN			49	6196	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	2030			CUB 2.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.6090C>A		.	.	.	.	.	.	.	.	.	.	C	15.47	2.841916	0.51057	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51	5.28	2.35	0.29111	CUB (5);	1.310530	0.05553	U	0.567956	T	0.38639	0.1048	M	0.68728	2.09	0.33186	D	0.550168	P;B;B;B;B;P;P	0.52316	0.952;0.082;0.379;0.313;0.379;0.552;0.606	P;B;B;B;B;B;B	0.51582	0.674;0.058;0.091;0.219;0.091;0.255;0.372	T	0.45469	-0.9259	10	0.11182	T	0.66	.	5.179	0.15150	0.1679:0.6495:0.0:0.1826	.	750;2010;1279;2159;1402;2020;2030	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	K	2030;2159;2030;2030;2030;2029;1402;2020;1402;1402;2030;2020;1402;176;750	ENSP00000342210:N2030K;ENSP00000343175:N2020K;ENSP00000327747:N1402K;ENSP00000357905:N2030K;ENSP00000357951:N2020K;ENSP00000357952:N1402K;ENSP00000352593:N750K	ENSP00000331522:N1402K	N	+	3	2	DMBT1	124382776	0.951000	0.32395	0.958000	0.39756	0.529000	0.34654	0.825000	0.27393	0.577000	0.29470	-0.311000	0.09066	AAC		0.498	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		6	113	6	113	---	---	---	---
STX3	6809	broad.mit.edu	37	11	59559664	59559664	+	Silent	SNP	C	C	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr11:59559664C>A	ENST00000337979.4	+	6	989	c.442C>A	c.(442-444)Cga>Aga	p.R148R	STX3_ENST00000535361.1_Silent_p.R148R|STX3_ENST00000300150.7_Silent_p.R117R|STX3_ENST00000529177.1_Silent_p.R148R|STX3_ENST00000437946.2_Silent_p.R51R	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3	148					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|long-term synaptic potentiation (GO:0060291)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|neurotransmitter transport (GO:0006836)	apical plasma membrane (GO:0016324)|azurophil granule (GO:0042582)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|vacuole (GO:0005773)	arachidonic acid binding (GO:0050544)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						CAGCAAAGGGCGAATCCAGCG	0.512																																						ENST00000535361.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						c.(442-444)Cga>Aga		syntaxin 3							121.0	102.0	108.0					11																	59559664		2201	4295	6496	SO:0001819	synonymous_variant	6809				cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity	g.chr11:59559664C>A	AJ002076	CCDS7975.1, CCDS53637.1	11q12.1	2008-02-05	2006-04-25	2006-04-25	ENSG00000166900	ENSG00000166900			11438	protein-coding gene	gene with protein product		600876	"""syntaxin 3A"""	STX3A		16598260, 16339081	Standard	NM_004177		Approved		uc001nog.3	Q13277	OTTHUMG00000167353	ENST00000337979.4:c.442C>A	11.37:g.59559664C>A						STX3_ENST00000337979.4_Silent_p.R148R|STX3_ENST00000300150.7_Silent_p.R117R|STX3_ENST00000437946.2_Silent_p.R51R|STX3_ENST00000529177.1_Silent_p.R148R	p.R148R			Q13277	STX3_HUMAN			6	989	+			148					B4DME0|O43750|O43751|Q15360	Silent	SNP	ENST00000337979.4	37	c.442C>A	CCDS7975.1																																																																																				0.512	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394264.1	NM_004177		3	52	3	52	---	---	---	---
P4HA3	283208	broad.mit.edu	37	11	74015374	74015374	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr11:74015374C>A	ENST00000331597.4	-	2	329	c.284G>T	c.(283-285)cGc>cTc	p.R95L	P4HA3_ENST00000427714.2_Missense_Mutation_p.R95L	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	95						endoplasmic reticulum (GO:0005783)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					AGACTGCAGGCGTTTGATGAG	0.478																																						ENST00000331597.4																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15						c.(283-285)cGc>cTc		prolyl 4-hydroxylase, alpha polypeptide III							173.0	173.0	173.0					11																	74015374		2200	4293	6493	SO:0001583	missense	283208					endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	g.chr11:74015374C>A	AY327887	CCDS8230.1, CCDS73347.1	11q13	2008-12-09	2008-12-09			ENSG00000149380			30135	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(III)"""	608987	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III"""			14500733	Standard	XM_005273924		Approved	C-P4Halpha(III)	uc001ouz.3	Q7Z4N8		ENST00000331597.4:c.284G>T	11.37:g.74015374C>A	ENSP00000332170:p.Arg95Leu					P4HA3_ENST00000427714.2_Missense_Mutation_p.R95L	p.R95L	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN			2	329	-	Breast(11;2.31e-05)		95					A0AV13|B4DUD3|Q5EBL3|Q5JPA9	Missense_Mutation	SNP	ENST00000331597.4	37	c.284G>T	CCDS8230.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.142749	0.57044	.	.	ENSG00000149380	ENST00000331597;ENST00000427714	T;T	0.73789	-0.51;-0.78	5.79	4.87	0.63330	Prolyl 4-hydroxylase alpha-subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87565	0.6209	M	0.86740	2.835	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89765	0.3950	10	0.87932	D	0	-10.5484	14.6605	0.68868	0.0:0.8536:0.1464:0.0	.	95;95	B4DUD3;Q7Z4N8	.;P4HA3_HUMAN	L	95	ENSP00000332170:R95L;ENSP00000401749:R95L	ENSP00000332170:R95L	R	-	2	0	P4HA3	73693022	1.000000	0.71417	1.000000	0.80357	0.081000	0.17604	6.830000	0.75319	1.415000	0.47037	-0.176000	0.13171	CGC		0.478	P4HA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382988.1	NM_182904		7	196	7	196	---	---	---	---
LRRC32	2615	broad.mit.edu	37	11	76371902	76371902	+	Silent	SNP	G	G	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr11:76371902G>A	ENST00000407242.2	-	3	977	c.735C>T	c.(733-735)ctC>ctT	p.L245L	LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Silent_p.L245L|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Silent_p.L245L	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	245					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CAAGCCAGGTGAGCTGGAACT	0.612																																						ENST00000407242.2																			0				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						c.(733-735)ctC>ctT		leucine rich repeat containing 32							48.0	52.0	51.0					11																	76371902		2200	4292	6492	SO:0001819	synonymous_variant	2615					integral to plasma membrane		g.chr11:76371902G>A	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.735C>T	11.37:g.76371902G>A						LRRC32_ENST00000404995.1_Silent_p.L245L|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Silent_p.L245L|AP001189.4_ENST00000447519.1_RNA	p.L245L	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN			3	977	-			245					Q86V06	Silent	SNP	ENST00000407242.2	37	c.735C>T	CCDS8245.1																																																																																				0.612	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		34	49	34	49	---	---	---	---
GRM5	2915	broad.mit.edu	37	11	88780467	88780467	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr11:88780467C>A	ENST00000305447.4	-	1	723	c.574G>T	c.(574-576)Gtg>Ttg	p.V192L	GRM5_ENST00000455756.2_Missense_Mutation_p.V192L|GRM5_ENST00000418177.2_Missense_Mutation_p.V192L|GRM5_ENST00000393294.3_Missense_Mutation_p.V192L|GRM5_ENST00000393297.1_Missense_Mutation_p.V192L|GRM5_ENST00000305432.5_Missense_Mutation_p.V192L	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	192					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	TCTGAAGGCACAACCCTCATG	0.463																																						ENST00000418177.2																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(574-576)Gtg>Ttg		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						93.0	80.0	85.0					11																	88780467		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88780467C>A	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.574G>T	11.37:g.88780467C>A	ENSP00000306138:p.Val192Leu					GRM5_ENST00000455756.2_Missense_Mutation_p.V192L|GRM5_ENST00000393297.1_Missense_Mutation_p.V192L|GRM5_ENST00000393294.3_Missense_Mutation_p.V192L|GRM5_ENST00000305447.4_Missense_Mutation_p.V192L|GRM5_ENST00000305432.5_Missense_Mutation_p.V192L	p.V192L			P41594	GRM5_HUMAN			2	941	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	192					Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.574G>T	CCDS44694.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.5|25.5	4.649607|4.649607	0.87958|0.87958	.|.	.|.	ENSG00000168959|ENSG00000168959	ENST00000449371|ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297;ENST00000393294	.|D;D;D;D;D;D	.|0.83250	.|-1.7;-1.7;-1.7;-1.7;-1.7;-1.7	5.4|5.4	5.4|5.4	0.78164|0.78164	.|Extracellular ligand-binding receptor (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92414|0.92414	0.7592|0.7592	M|M	0.87180|0.87180	2.865|2.865	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.71674	.|0.997;0.998;0.998	.|D;D;D	.|0.77004	.|0.93;0.986;0.989	D|D	0.92856|0.92856	0.6301|0.6301	5|9	.|.	.|.	.|.	.|.	19.1788|19.1788	0.93614|0.93614	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|192;192;192	.|A8MT20;P41594-2;P41594	.|.;.;GRM5_HUMAN	F|L	24|192	.|ENSP00000402912:V192L;ENSP00000405690:V192L;ENSP00000305905:V192L;ENSP00000306138:V192L;ENSP00000376975:V192L;ENSP00000376972:V192L	.|.	L|V	-|-	3|1	2|0	GRM5|GRM5	88420115|88420115	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.975000|0.975000	0.68041|0.68041	7.687000|7.687000	0.84139|0.84139	2.514000|2.514000	0.84764|0.84764	0.563000|0.563000	0.77884|0.77884	TTG|GTG		0.463	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		12	93	12	93	---	---	---	---
HSPA8	3312	broad.mit.edu	37	11	122928986	122928986	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr11:122928986T>C	ENST00000532636.1	-	8	1848	c.1729A>G	c.(1729-1731)Att>Gtt	p.I577V	SNORD14E_ENST00000364009.1_RNA|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000526110.1_Missense_Mutation_p.I558V|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000534624.1_Missense_Mutation_p.I577V|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000534319.1_Missense_Mutation_p.I341V|HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000227378.3_Missense_Mutation_p.I577V|HSPA8_ENST00000533540.1_Missense_Mutation_p.I431V			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	577					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CAGTTGATAATTTCATTACAC	0.393																																					Colon(21;486 594 5900 6733 14272)	ENST00000534624.1																			0				breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36						c.(1729-1731)Att>Gtt		heat shock 70kDa protein 8							95.0	100.0	98.0					11																	122928986		2202	4299	6501	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122928986T>C	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1729A>G	11.37:g.122928986T>C	ENSP00000437125:p.Ile577Val					HSPA8_ENST00000533540.1_Missense_Mutation_p.I431V|HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000227378.3_Missense_Mutation_p.I577V|HSPA8_ENST00000526110.1_Missense_Mutation_p.I558V|HSPA8_ENST00000534319.1_Missense_Mutation_p.I341V|HSPA8_ENST00000532636.1_Missense_Mutation_p.I577V	p.I577V	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	8	2005	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	577					Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.1729A>G	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	T	4.152	0.026677	0.08054	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000524552;ENST00000526686	T;T;T;T;T;T;T;T	0.12569	2.67;2.67;2.67;2.67;2.67;2.67;2.67;2.67	4.79	4.79	0.61399	.	0.082207	0.56097	D	0.000026	T	0.04092	0.0114	N	0.01771	-0.73	0.43678	D	0.996114	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.27434	-1.0074	10	0.02654	T	1	-18.3607	9.2189	0.37364	0.0:0.0819:0.0:0.9181	.	577;577	Q53GZ6;P11142	.;HSP7C_HUMAN	V	577;431;577;577;341;558;168;129	ENSP00000437125:I577V;ENSP00000437189:I431V;ENSP00000432083:I577V;ENSP00000227378:I577V;ENSP00000433316:I341V;ENSP00000433584:I558V;ENSP00000435908:I168V;ENSP00000435019:I129V	ENSP00000227378:I577V	I	-	1	0	HSPA8	122434196	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.768000	0.47645	1.923000	0.55706	0.459000	0.35465	ATT		0.393	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			24	50	24	50	---	---	---	---
DDN	23109	broad.mit.edu	37	12	49391665	49391665	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr12:49391665G>A	ENST00000421952.2	-	2	1015	c.994C>T	c.(994-996)Cat>Tat	p.H332Y	RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	332						cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GCTTGGGGATGGCTGTCGCTA	0.662																																						ENST00000421952.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						c.(994-996)Cat>Tat		dendrin							47.0	55.0	52.0					12																	49391665		2203	4300	6503	SO:0001583	missense	23109					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		g.chr12:49391665G>A	AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.994C>T	12.37:g.49391665G>A	ENSP00000390590:p.His332Tyr						p.H332Y	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN			2	1015	-			332						Missense_Mutation	SNP	ENST00000421952.2	37	c.994C>T	CCDS31791.2	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622943	0.66901	.	.	ENSG00000181418	ENST00000421952	T	0.45668	0.89	3.88	2.06	0.26882	.	0.693465	0.12674	N	0.448508	T	0.26593	0.0650	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.21008	-1.0258	10	0.66056	D	0.02	0.0188	5.8189	0.18516	0.3275:0.0:0.6725:0.0	.	332	O94850	DEND_HUMAN	Y	332	ENSP00000390590:H332Y	ENSP00000390590:H332Y	H	-	1	0	DDN	47677932	0.007000	0.16637	0.002000	0.10522	0.814000	0.46013	1.729000	0.38115	0.621000	0.30232	0.561000	0.74099	CAT		0.662	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			33	118	33	118	---	---	---	---
FBXW8	26259	broad.mit.edu	37	12	117465848	117465848	+	Silent	SNP	C	C	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr12:117465848C>A	ENST00000309909.5	+	11	1750	c.1668C>A	c.(1666-1668)atC>atA	p.I556I	FBXW8_ENST00000455858.2_Silent_p.I490I			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	556					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|labyrinthine layer blood vessel development (GO:0060716)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|spongiotrophoblast layer development (GO:0060712)	Cul7-RING ubiquitin ligase complex (GO:0031467)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		GGGGGCTGATCCGCGCCTATG	0.622																																						ENST00000455858.2																			0				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22						c.(1468-1470)atC>atA		F-box and WD repeat domain containing 8							97.0	74.0	82.0					12																	117465848		2203	4300	6503	SO:0001819	synonymous_variant	26259						protein binding	g.chr12:117465848C>A	AF176707	CCDS9182.1, CCDS44988.1	12q24.23	2013-01-09	2007-02-08	2003-06-13				"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13597	protein-coding gene	gene with protein product		609073	"""F-box only protein 29"", ""F-box and WD-40 domain protein 8"""	FBXO29		10531035, 10531037	Standard	NM_012174		Approved	FBX29, FBW6, FBW8	uc001twg.1	Q8N3Y1	OTTHUMG00000169329	ENST00000309909.5:c.1668C>A	12.37:g.117465848C>A						FBXW8_ENST00000309909.5_Silent_p.I556I	p.I490I	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	Q8N3Y1	FBXW8_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0353)	11	1543	+	all_neural(191;0.117)|Medulloblastoma(191;0.163)		556					Q9UK95	Silent	SNP	ENST00000309909.5	37	c.1470C>A	CCDS9182.1																																																																																				0.622	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403561.1	NM_012174		3	55	3	55	---	---	---	---
CPPED1	55313	broad.mit.edu	37	16	12798661	12798662	+	Nonsense_Mutation	DNP	GC	GC	AA	rs202146873		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr16:12798661_12798662GC>AA	ENST00000381774.4	-	3	774_775	c.534_535GC>TT	c.(532-537)aaGCag>aaTTag	p.178_179KQ>N*	CPPED1_ENST00000433677.2_Intron|CPPED1_ENST00000261660.4_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	178	Catalytic.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						TCCTGAGCCTGCTTCAGGCTGG	0.614																																						ENST00000381774.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						c.(535-537)Cag>Tag|c.(532-534)aaG>aaT		calcineurin-like phosphoesterase domain containing 1																																				SO:0001587	stop_gained	55313						hydrolase activity|metal ion binding	g.chr16:12798661G>A|g.chr16:12798662C>A	AK022710	CCDS42119.1, CCDS42120.1	16p13.12	2014-02-12	2009-03-13		ENSG00000103381	ENSG00000103381			25632	protein-coding gene	gene with protein product	"""complete S transactivated protein 1"""	615603				12477932	Standard	NM_018340		Approved	CSTP1, FLJ11151	uc002dca.4	Q9BRF8	OTTHUMG00000167711	ENST00000381774.4:c.534_535delinsAA	16.37:g.12798661_12798662delinsAA	ENSP00000371193:p.K178_Q179delinsN*					CPPED1_ENST00000261660.4_Intron|CPPED1_ENST00000433677.2_Intron	p.Q179*|p.K178N	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN			3	775|774	-			179|178					B4DQ68|Q6MZY9|Q9H9M9|Q9NUT6	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000381774.4	37	c.535C>T|c.534G>T	CCDS42120.1																																																																																				0.614	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395795.2	NM_018340		21|20	55	20	55	---	---	---	---
SULT1A1	6817	broad.mit.edu	37	16	28631396	28631396	+	5'UTR	SNP	C	C	T			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr16:28631396C>T	ENST00000395609.1	-	0	481				SULT1A1_ENST00000350842.4_Nonsense_Mutation_p.W42*			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|estrogen metabolic process (GO:0008210)|flavonoid metabolic process (GO:0009812)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid sulfotransferase activity (GO:0050294)|sulfotransferase activity (GO:0008146)			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16					Acetaminophen(DB00316)|Tamoxifen(DB00675)	TATAGGTGTTCCAGAATTTCT	0.328																																						ENST00000350842.4																			0				endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						c.(124-126)tgG>tgA		sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1							107.0	104.0	105.0					16																	28631396		2197	4300	6497	SO:0001623	5_prime_UTR_variant	6817				3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	g.chr16:28631396C>T	U52852	CCDS10637.1, CCDS32420.1	16p12.1	2008-02-05			ENSG00000196502	ENSG00000196502	2.8.2.1	"""Sulfotransferases, cytosolic"""	11453	protein-coding gene	gene with protein product		171150		STP, STP1		8288252, 8912648	Standard	NM_177534		Approved	P-PST	uc002dqj.3	P50225	OTTHUMG00000131765	ENST00000395609.1:c.-278G>A	16.37:g.28631396C>T						SULT1A1_ENST00000395609.1_5'UTR	p.W42*	NM_177536.3	NP_803880.1	P50225	ST1A1_HUMAN			2	514	-			0					Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Nonsense_Mutation	SNP	ENST00000395609.1	37	c.126G>A	CCDS32420.1	.	.	.	.	.	.	.	.	.	.	c	16.11	3.030445	0.54790	.	.	ENSG00000196502	ENST00000350842	.	.	.	1.01	1.01	0.19927	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	5.4053	0.16318	0.0:1.0:0.0:0.0	.	.	.	.	X	42	.	ENSP00000329399:W42X	W	-	3	0	SULT1A1	28538897	1.000000	0.71417	0.937000	0.37676	0.418000	0.31294	1.341000	0.33907	0.511000	0.28236	0.089000	0.15464	TGG		0.328	SULT1A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001055		4	48	4	48	---	---	---	---
FOXC2	2303	broad.mit.edu	37	16	86602380	86602380	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr16:86602380C>G	ENST00000320354.4	+	1	1524	c.1439C>G	c.(1438-1440)cCc>cGc	p.P480R	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	480					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						TGCCAGCTGCCCTACAGATCC	0.647									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.(1438-1440)cCc>cGc		forkhead box C2 (MFH-1, mesenchyme forkhead 1)							32.0	30.0	31.0					16																	86602380		2175	4264	6439	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.chr16:86602380C>G	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.1439C>G	16.37:g.86602380C>G	ENSP00000326371:p.Pro480Arg						p.P480R	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN			1	1524	+			480					C6KMR9|Q14DA6	Missense_Mutation	SNP	ENST00000320354.4	37	c.1439C>G	CCDS10958.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491736	0.44249	.	.	ENSG00000176692	ENST00000320354	T	0.76060	-0.99	4.35	4.35	0.52113	.	1.847060	0.03063	U	0.156132	T	0.77922	0.4203	L	0.27053	0.805	0.52501	D	0.999959	D	0.59357	0.985	P	0.53360	0.724	T	0.67492	-0.5657	10	0.72032	D	0.01	.	15.5954	0.76574	0.0:1.0:0.0:0.0	.	480	Q99958	FOXC2_HUMAN	R	480	ENSP00000326371:P480R	ENSP00000326371:P480R	P	+	2	0	FOXC2	85159881	1.000000	0.71417	0.998000	0.56505	0.135000	0.20990	5.216000	0.65246	2.223000	0.72356	0.462000	0.41574	CCC		0.647	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	NM_005251		3	82	3	82	---	---	---	---
MYH8	4626	broad.mit.edu	37	17	10296220	10296220	+	Silent	SNP	C	C	T			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr17:10296220C>T	ENST00000403437.2	-	37	5485	c.5391G>A	c.(5389-5391)caG>caA	p.Q1797Q	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1797					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTAGACGATGCTGCAGGTCCT	0.577									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(5389-5391)caG>caA		myosin, heavy chain 8, skeletal muscle, perinatal							131.0	130.0	131.0					17																	10296220		2203	4300	6503	SO:0001819	synonymous_variant	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10296220C>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5391G>A	17.37:g.10296220C>T						CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	p.Q1797Q	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			37	5485	-			1797					Q14910	Silent	SNP	ENST00000403437.2	37	c.5391G>A	CCDS11153.1																																																																																				0.577	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		8	131	8	131	---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10357986	10357986	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr17:10357986T>G	ENST00000255381.2	-	22	2687	c.2577A>C	c.(2575-2577)gaA>gaC	p.E859D	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	859					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTTTCTCAAATTCTTCCTTCA	0.433																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(2575-2577)gaA>gaC		myosin, heavy chain 4, skeletal muscle							205.0	179.0	187.0					17																	10357986		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10357986T>G		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2577A>C	17.37:g.10357986T>G	ENSP00000255381:p.Glu859Asp					CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	p.E859D	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			22	2687	-			859						Missense_Mutation	SNP	ENST00000255381.2	37	c.2577A>C	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	T	10.78	1.447361	0.25987	.	.	ENSG00000141048	ENST00000255381	D	0.85258	-1.96	5.17	-10.3	0.00346	.	0.191444	0.24438	N	0.038524	T	0.71048	0.3294	L	0.55213	1.73	0.30149	N	0.803252	B	0.09022	0.002	B	0.12837	0.008	T	0.49234	-0.8961	10	0.48119	T	0.1	.	3.053	0.06175	0.3477:0.3733:0.1665:0.1125	.	859	Q9Y623	MYH4_HUMAN	D	859	ENSP00000255381:E859D	ENSP00000255381:E859D	E	-	3	2	MYH4	10298711	0.000000	0.05858	0.619000	0.29118	0.603000	0.37013	-4.714000	0.00195	-2.650000	0.00424	-1.645000	0.00762	GAA		0.433	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		4	102	4	102	---	---	---	---
UNC45B	146862	broad.mit.edu	37	17	33495343	33495343	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr17:33495343C>A	ENST00000268876.5	+	10	1512	c.1415C>A	c.(1414-1416)aCc>aAc	p.T472N	UNC45B_ENST00000591048.1_Missense_Mutation_p.T472N|UNC45B_ENST00000433649.1_Missense_Mutation_p.T472N|UNC45B_ENST00000394570.2_Missense_Mutation_p.T472N|UNC45B_ENST00000378449.1_Missense_Mutation_p.T472N|RP11-799D4.3_ENST00000585646.1_RNA	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	472					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				ATCTACAAGACCACCAAAAAT	0.567																																						ENST00000268876.5																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59						c.(1414-1416)aCc>aAc		unc-45 homolog B (C. elegans)							108.0	87.0	94.0					17																	33495343		2203	4300	6503	SO:0001583	missense	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33495343C>A	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1415C>A	17.37:g.33495343C>A	ENSP00000268876:p.Thr472Asn					UNC45B_ENST00000378449.1_Missense_Mutation_p.T472N|UNC45B_ENST00000591048.1_Missense_Mutation_p.T472N|UNC45B_ENST00000433649.1_Missense_Mutation_p.T472N|UNC45B_ENST00000394570.2_Missense_Mutation_p.T472N	p.T472N	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN			10	1512	+		Ovarian(249;0.17)	472					Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	c.1415C>A	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.312794	0.40895	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T;T	0.64438	1.03;3.69;1.03;-0.1	5.02	5.02	0.67125	Armadillo-like helical (1);Armadillo-type fold (1);	0.046141	0.85682	D	0.000000	T	0.37265	0.0997	N	0.03608	-0.345	0.23743	N	0.996966	B;B;B	0.22080	0.064;0.056;0.001	B;B;B	0.28305	0.088;0.066;0.009	T	0.17930	-1.0353	10	0.15952	T	0.53	-37.4787	11.3634	0.49657	0.2766:0.7234:0.0:0.0	.	472;472;472	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	N	472	ENSP00000378071:T472N;ENSP00000268876:T472N;ENSP00000412840:T472N;ENSP00000367710:T472N	ENSP00000268876:T472N	T	+	2	0	UNC45B	30519456	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.471000	0.66762	2.767000	0.95098	0.655000	0.94253	ACC		0.567	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		5	68	5	68	---	---	---	---
HLF	3131	broad.mit.edu	37	17	53392674	53392674	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr17:53392674G>C	ENST00000226067.5	+	3	1011	c.538G>C	c.(538-540)Gca>Cca	p.A180P	HLF_ENST00000575345.1_Missense_Mutation_p.A95P|HLF_ENST00000430986.2_Missense_Mutation_p.A95P|HLF_ENST00000573945.1_Missense_Mutation_p.A95P	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	180	Pro-rich (proline/acidic region (PAR)).				multicellular organismal development (GO:0007275)|rhythmic process (GO:0048511)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|ovary(2)	3						GCCAGACCCAGCAGATCTTGC	0.527			T	TCF3	ALL																																	ENST00000226067.5				Dom	yes		17	17q22	3131	T	hepatic leukemia factor			L	TCF3		ALL		0				large_intestine(1)|ovary(2)	3						c.(538-540)Gca>Cca		hepatic leukemia factor							119.0	106.0	110.0					17																	53392674		2203	4300	6503	SO:0001583	missense	3131				multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:53392674G>C		CCDS11585.1	17q22	2011-05-19			ENSG00000108924	ENSG00000108924			4977	protein-coding gene	gene with protein product		142385				1386162	Standard	XM_005257269		Approved	MGC33822	uc002iug.1	Q16534		ENST00000226067.5:c.538G>C	17.37:g.53392674G>C	ENSP00000226067:p.Ala180Pro					HLF_ENST00000575345.1_Missense_Mutation_p.A95P|HLF_ENST00000573945.1_Missense_Mutation_p.A95P|HLF_ENST00000430986.2_Missense_Mutation_p.A95P	p.A180P	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN			3	1011	+			180			Pro-rich (proline/acidic region (PAR)).		A8K1X8|Q6FHS9	Missense_Mutation	SNP	ENST00000226067.5	37	c.538G>C	CCDS11585.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819165	0.90873	.	.	ENSG00000108924	ENST00000226067;ENST00000430986	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.80127	0.4566	M	0.79926	2.475	0.80722	D	1	B;D	0.89917	0.204;1.0	B;D	0.69307	0.099;0.963	T	0.79897	-0.1609	9	0.44086	T	0.13	.	18.6178	0.91310	0.0:0.0:1.0:0.0	.	128;180	B4DIQ5;Q16534	.;HLF_HUMAN	P	180;95	.	ENSP00000226067:A180P	A	+	1	0	HLF	50747673	1.000000	0.71417	0.959000	0.39883	0.948000	0.59901	4.767000	0.62286	2.644000	0.89710	0.655000	0.94253	GCA		0.527	HLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439185.1	NM_002126		27	78	27	78	---	---	---	---
IRF2BP1	26145	broad.mit.edu	37	19	46388640	46388640	+	Silent	SNP	A	A	G			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr19:46388640A>G	ENST00000302165.3	-	1	736	c.393T>C	c.(391-393)acT>acC	p.T131T		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	131					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		GGGACCCCAGAGTGTACTCCA	0.721																																						ENST00000302165.3																			0				cervix(1)|kidney(1)|lung(2)	4						c.(391-393)acT>acC		interferon regulatory factor 2 binding protein 1							10.0	12.0	11.0					19																	46388640		2129	4196	6325	SO:0001819	synonymous_variant	26145				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:46388640A>G	AY278022	CCDS12678.1	19q13.32	2008-02-05							21728	protein-coding gene	gene with protein product		615331				12799427	Standard	NM_015649		Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.393T>C	19.37:g.46388640A>G							p.T131T	NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)	1	736	-		all_neural(266;0.113)|Ovarian(192;0.127)	131					Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Silent	SNP	ENST00000302165.3	37	c.393T>C	CCDS12678.1																																																																																				0.721	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461683.1	NM_015649		3	33	3	33	---	---	---	---
MOSPD2	158747	broad.mit.edu	37	X	14932667	14932667	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chrX:14932667G>T	ENST00000380492.3	+	11	1123	c.1035G>T	c.(1033-1035)gaG>gaT	p.E345D	MOSPD2_ENST00000482354.1_Missense_Mutation_p.E345D|MOSPD2_ENST00000495110.1_3'UTR	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	345	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					AATCCGGAGAGAAGAAAACCT	0.299																																						ENST00000380492.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1033-1035)gaG>gaT		motile sperm domain containing 2							55.0	54.0	54.0					X																	14932667		2203	4290	6493	SO:0001583	missense	158747					integral to membrane	structural molecule activity	g.chrX:14932667G>T	AL834345	CCDS14162.1	Xp22.31	2006-03-16			ENSG00000130150	ENSG00000130150			28381	protein-coding gene	gene with protein product						15533722	Standard	NM_152581		Approved	MGC26706	uc004cwi.3	Q8NHP6	OTTHUMG00000021170	ENST00000380492.3:c.1035G>T	X.37:g.14932667G>T	ENSP00000369860:p.Glu345Asp					MOSPD2_ENST00000495110.1_3'UTR|MOSPD2_ENST00000482354.1_Missense_Mutation_p.E345D	p.E345D	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN			11	1123	+	Hepatocellular(33;0.183)		345			MSP.		Q8N3H2|Q8NA83	Missense_Mutation	SNP	ENST00000380492.3	37	c.1035G>T	CCDS14162.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034335	0.75617	.	.	ENSG00000130150	ENST00000380492	T	0.73047	-0.71	5.52	4.66	0.58398	PapD-like (2);	0.000000	0.85682	D	0.000000	T	0.79094	0.4388	L	0.51853	1.615	0.58432	D	0.999999	D	0.58970	0.984	D	0.76575	0.988	T	0.78262	-0.2272	10	0.44086	T	0.13	.	12.8407	0.57800	0.0825:0.0:0.9175:0.0	.	345	Q8NHP6	MSPD2_HUMAN	D	345	ENSP00000369860:E345D	ENSP00000369860:E345D	E	+	3	2	MOSPD2	14842588	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	1.067000	0.30616	1.221000	0.43506	0.506000	0.49869	GAG		0.299	MOSPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055837.1	NM_152581		3	40	3	40	---	---	---	---
PHF8	23133	broad.mit.edu	37	X	54029074	54029074	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chrX:54029074A>C	ENST00000357988.5	-	9	1454	c.1096T>G	c.(1096-1098)Ttt>Gtt	p.F366V	PHF8_ENST00000322659.8_Missense_Mutation_p.F330V|PHF8_ENST00000338154.6_Missense_Mutation_p.F330V|PHF8_ENST00000338946.6_Missense_Mutation_p.F330V	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	366	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TTCCCTCCAAAGGCAAGGCAG	0.488																																						ENST00000338154.6																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(988-990)Ttt>Gtt		PHD finger protein 8							153.0	102.0	119.0					X																	54029074		2203	4300	6503	SO:0001583	missense	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54029074A>C	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.1096T>G	X.37:g.54029074A>C	ENSP00000350676:p.Phe366Val					PHF8_ENST00000338946.6_Missense_Mutation_p.F330V|PHF8_ENST00000357988.5_Missense_Mutation_p.F366V|PHF8_ENST00000322659.8_Missense_Mutation_p.F330V	p.F330V	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN			9	1492	-			366			JmjC.		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	ENST00000357988.5	37	c.988T>G	CCDS55420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.9|25.9	4.685487|4.685487	0.88639|0.88639	.|.	.|.	ENSG00000172943|ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000322659|ENST00000443302	T;T;T;T|.	0.68025|.	-0.3;-0.3;-0.3;-0.3|.	5.81|5.81	5.81|5.81	0.92471|0.92471	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69663|0.69663	0.3136|0.3136	L|L	0.60067|0.60067	1.865|1.865	0.80722|0.80722	D|D	1|1	P;D;D;P|.	0.67145|.	0.681;0.996;0.995;0.856|.	P;D;D;P|.	0.72075|.	0.614;0.976;0.96;0.694|.	T|T	0.68561|0.68561	-0.5376|-0.5376	10|5	0.54805|.	T|.	0.06|.	-12.4409|-12.4409	14.0193|14.0193	0.64543|0.64543	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	330;330;366;366|.	Q9UPP1-2;B7Z911;Q9UPP1-3;Q9UPP1|.	.;.;.;PHF8_HUMAN|.	V|R	366;330;330;360;330|93	ENSP00000350676:F366V;ENSP00000338868:F330V;ENSP00000340051:F330V;ENSP00000319473:F330V|.	ENSP00000319473:F330V|.	F|L	-|-	1|2	0|0	PHF8|PHF8	54045799|54045799	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.976000|8.976000	0.93442|0.93442	1.956000|1.956000	0.56807|0.56807	0.417000|0.417000	0.27973|0.27973	TTT|CTT		0.488	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		3	26	3	26	---	---	---	---
CASZ1	54897	broad.mit.edu	37	1	10706334	10706334	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr1:10706334delG	ENST00000377022.3	-	17	3864	c.3547delC	c.(3547-3549)cacfs	p.H1183fs	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1183					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AAGAGACAGTGGAAGTGGAAC	0.547																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(3547-3549)cacfs		castor zinc finger 1							167.0	186.0	180.0					1																	10706334		2138	4231	6369	SO:0001589	frameshift_variant	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10706334delG	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.3547delC	1.37:g.10706334delG	ENSP00000366221:p.His1183fs					RP4-734G22.3_ENST00000606802.1_RNA	p.H1183fs	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	17	3864	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	1183					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Frame_Shift_Del	DEL	ENST00000377022.3	37	c.3547delC	CCDS41246.1																																																																																				0.547	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		28	49	28	49	---	---	---	---
SETDB1	9869	broad.mit.edu	37	1	150923074	150923075	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr1:150923074_150923075insA	ENST00000271640.5	+	13	1911_1912	c.1721_1722insA	c.(1720-1725)ttacctfs	p.P575fs	SETDB1_ENST00000368969.4_Frame_Shift_Ins_p.P575fs|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	575					bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTTTTCTACTTACCTCATGTCT	0.579																																						ENST00000271640.5																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(1720-1725)ttacctfs		SET domain, bifurcated 1																																				SO:0001589	frameshift_variant	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150923074_150923075insA	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.1722dupA	1.37:g.150923075_150923075dupA	ENSP00000271640:p.Pro575fs					SETDB1_ENST00000368969.4_Frame_Shift_Ins_p.P575fs|SETDB1_ENST00000459773.1_Intron	p.P575fs	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		13	1911_1912	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		575					A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Frame_Shift_Ins	INS	ENST00000271640.5	37	c.1721_1722insA	CCDS44217.1																																																																																				0.579	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			43	114	43	114	---	---	---	---
