#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MIR494	574452	broad.mit.edu	37	14	101498368	101498368	+	RNA	SNP	C	C	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr14:101498368C>T	ENST00000349529.2	+	0	81				MIR495_ENST00000385010.1_RNA|MIR543_ENST00000390751.1_RNA|MIR1193_ENST00000408109.3_RNA	NR_030174.1				microRNA 494																		TTATTTGTGACGAAACATTCG	0.502																																						ENST00000390751.1																			0																				295.0	229.0	250.0					14																	101498368		1568	3582	5150			0							g.chr14:101498368C>T			14q32.31	2011-09-12		2008-12-18	ENSG00000194717	ENSG00000194717		"""ncRNAs / Micro RNAs"""	32084	non-coding RNA	RNA, micro				MIRN494			Standard	NR_030174		Approved	hsa-mir-494	uc010txm.2				14.37:g.101498368C>T								NR_030619.1						0	45	+									RNA	SNP	ENST00000349529.2	37																																																																																						0.502	MIR494-201	KNOWN	basic	miRNA	miRNA		NR_030174		8	120	0	0	0	1	0	8	120				
CYP4F2	8529	broad.mit.edu	37	19	16003198	16003198	+	Missense_Mutation	SNP	C	C	T	rs140630977		TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr19:16003198C>T	ENST00000221700.6	-	5	541	c.446G>A	c.(445-447)cGg>cAg	p.R149Q	CYP4F2_ENST00000011989.7_5'UTR	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2									p.R149Q(2)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CGTCAGCATCCGACGGTGGCG	0.567																																						ENST00000221700.5																			2	Substitution - Missense(2)	p.R149Q(2)	prostate(1)|skin(1)	NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(445-447)cGg>cAg		cytochrome P450, family 4, subfamily F, polypeptide 2		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	93.0	94.0	94.0		446	2.7	1.0	19	dbSNP_134	94	0,8600		0,0,4300	no	missense	CYP4F2	NM_001082.3	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	149/521	16003198	1,13005	2203	4300	6503	SO:0001583	missense	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:16003198C>T	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.446G>A	19.37:g.16003198C>T	ENSP00000221700:p.Arg149Gln					CYP4F2_ENST00000011989.7_5'UTR|CYP4F2_ENST00000592328.1_Missense_Mutation_p.R149Q	p.R149Q	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN			5	541	-			149						Missense_Mutation	SNP	ENST00000221700.6	37	c.446G>A	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	c	16.85	3.236912	0.58886	2.27E-4	0.0	ENSG00000186115	ENST00000221700	T	0.71579	-0.58	2.7	2.7	0.31948	.	0.000000	0.64402	U	0.000016	T	0.81484	0.4832	M	0.83852	2.665	0.80722	D	1	D	0.59767	0.986	P	0.62014	0.897	D	0.84155	0.0425	10	0.87932	D	0	.	11.1194	0.48279	0.0:1.0:0.0:0.0	.	149	P78329	CP4F2_HUMAN	Q	149	ENSP00000221700:R149Q	ENSP00000221700:R149Q	R	-	2	0	CYP4F2	15864198	0.761000	0.28439	0.981000	0.43875	0.356000	0.29392	0.974000	0.29436	1.486000	0.48398	0.289000	0.19496	CGG		0.567	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		27	131	0	0	0	1	0	27	131				
DCDC2	51473	broad.mit.edu	37	6	24357720	24357720	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr6:24357720C>T	ENST00000378454.3	-	1	560	c.259G>A	c.(259-261)Gtg>Atg	p.V87M	KAAG1_ENST00000274766.1_5'UTR	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	87	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)			p.V87M(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				CCTCCAGCCACGTAATTGCCC	0.587																																						ENST00000378454.3																			1	Substitution - Missense(1)	p.V87M(1)	prostate(1)	breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(259-261)Gtg>Atg		doublecortin domain containing 2							47.0	44.0	45.0					6																	24357720		2203	4300	6503	SO:0001583	missense	51473				cellular defense response|intracellular signal transduction|neuron migration			g.chr6:24357720C>T	AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.259G>A	6.37:g.24357720C>T	ENSP00000367715:p.Val87Met					KAAG1_ENST00000274766.1_5'UTR	p.V87M	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN			1	560	-		Ovarian(999;0.101)	87			Doublecortin 1.		Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Missense_Mutation	SNP	ENST00000378454.3	37	c.259G>A	CCDS4550.1	.	.	.	.	.	.	.	.	.	.	C	31	5.097961	0.94197	.	.	ENSG00000146038	ENST00000378454;ENST00000451359	D	0.97066	-4.23	5.57	5.57	0.84162	Doublecortin domain (5);	0.062950	0.64402	D	0.000006	D	0.98896	0.9626	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99505	1.0954	10	0.72032	D	0.01	-8.4709	19.5657	0.95391	0.0:1.0:0.0:0.0	.	87	Q9UHG0	DCDC2_HUMAN	M	87	ENSP00000367715:V87M	ENSP00000367715:V87M	V	-	1	0	DCDC2	24465699	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.704000	0.84595	2.630000	0.89119	0.591000	0.81541	GTG		0.587	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356		40	105	0	0	0	1	0	40	105				
ACY3	91703	broad.mit.edu	37	11	67412278	67412278	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr11:67412278G>A	ENST00000255082.3	-	7	867	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C	ACY3_ENST00000529256.1_Missense_Mutation_p.R112C	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	233	Shielding domain. {ECO:0000250}.				viral process (GO:0016032)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)	p.R233C(1)		endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	GCCTCGGTGCGGGGGAAGTCC	0.632																																					GBM(56;346 1011 27014 29495 46841)	ENST00000255082.3																			1	Substitution - Missense(1)	p.R233C(1)	prostate(1)	endometrium(1)|lung(5)|prostate(2)	8						c.(697-699)Cgc>Tgc		aspartoacylase (aminocyclase) 3	L-Aspartic Acid(DB00128)						43.0	34.0	37.0					11																	67412278		2183	4288	6471	SO:0001583	missense	91703				interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding	g.chr11:67412278G>A	BC008689	CCDS8175.1	11q13.2	2014-08-08			ENSG00000132744	ENSG00000132744			24104	protein-coding gene	gene with protein product		614413				14656720	Standard	NM_080658		Approved	HCBP1, MGC9740, ACY-3	uc001omq.3	Q96HD9	OTTHUMG00000167283	ENST00000255082.3:c.697C>T	11.37:g.67412278G>A	ENSP00000255082:p.Arg233Cys					ACY3_ENST00000529256.1_Missense_Mutation_p.R112C	p.R233C	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN			7	867	-			233						Missense_Mutation	SNP	ENST00000255082.3	37	c.697C>T	CCDS8175.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788295	0.31593	.	.	ENSG00000132744	ENST00000255082;ENST00000529256	D;D	0.97906	-4.6;-4.6	3.38	2.46	0.29980	.	0.059042	0.64402	N	0.000007	D	0.95758	0.8620	M	0.82517	2.595	0.25896	N	0.983415	P	0.34997	0.479	B	0.23275	0.045	D	0.92165	0.5739	10	0.87932	D	0	-24.6543	8.5045	0.33179	0.118:0.0:0.882:0.0	.	233	Q96HD9	ACY3_HUMAN	C	233;112	ENSP00000255082:R233C;ENSP00000434270:R112C	ENSP00000255082:R233C	R	-	1	0	ACY3	67168854	0.001000	0.12720	0.053000	0.19242	0.061000	0.15899	0.216000	0.17585	1.022000	0.39626	0.561000	0.74099	CGC		0.632	ACY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394002.1	NM_080658		4	7	0	0	0	1	0	4	7				
AATK	9625	broad.mit.edu	37	17	79094618	79094618	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr17:79094618T>C	ENST00000326724.4	-	11	3142	c.3118A>G	c.(3118-3120)Agg>Ggg	p.R1040G	AATK_ENST00000417379.1_Missense_Mutation_p.R937G	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1040					brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.R1040G(2)		endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			ACCCCAGGCCTGAGACAGACC	0.716																																						ENST00000326724.4																			2	Substitution - Missense(2)	p.R1040G(2)	prostate(2)	endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21						c.(3118-3120)Agg>Ggg		apoptosis-associated tyrosine kinase							5.0	6.0	6.0					17																	79094618		1833	4051	5884	SO:0001583	missense	9625					integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:79094618T>C	AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"""lemur tyrosine kinase 1"", ""protein phosphatase 1, regulatory subunit 77"""	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.3118A>G	17.37:g.79094618T>C	ENSP00000324196:p.Arg1040Gly					AATK_ENST00000417379.1_Missense_Mutation_p.R937G	p.R1040G	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		11	3142	-	all_neural(118;0.101)		1040					O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	ENST00000326724.4	37	c.3118A>G	CCDS45807.1	.	.	.	.	.	.	.	.	.	.	T	7.534	0.659201	0.14645	.	.	ENSG00000181409	ENST00000326724	T	0.77489	-1.1	4.59	-4.06	0.03986	.	.	.	.	.	T	0.52370	0.1730	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37337	-0.9710	9	0.41790	T	0.15	.	5.9093	0.19018	0.0:0.2956:0.3513:0.3531	.	1040	Q6ZMQ8	LMTK1_HUMAN	G	1040	ENSP00000324196:R1040G	ENSP00000324196:R1040G	R	-	1	2	AATK	76709213	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.406000	0.07187	-0.245000	0.09625	-0.736000	0.03550	AGG		0.716	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920		2	11	0	0	0	1	0	2	11				
NEUROD6	63974	broad.mit.edu	37	7	31377922	31377922	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr7:31377922G>A	ENST00000297142.3	-	2	1283	c.961C>T	c.(961-963)Cgc>Tgc	p.R321C		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	321					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R321C(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GATTGGCTGCGCAGATGTAAG	0.478																																						ENST00000297142.3																			1	Substitution - Missense(1)	p.R321C(1)	prostate(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(961-963)Cgc>Tgc		neuronal differentiation 6							78.0	76.0	77.0					7																	31377922		2203	4300	6503	SO:0001583	missense	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31377922G>A	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.961C>T	7.37:g.31377922G>A	ENSP00000297142:p.Arg321Cys						p.R321C	NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN			2	1283	-			321					Q548T9|Q9H3H6	Missense_Mutation	SNP	ENST00000297142.3	37	c.961C>T	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092480	0.55968	.	.	ENSG00000164600	ENST00000297142	D	0.95554	-3.74	5.13	4.19	0.49359	.	0.000000	0.85682	D	0.000000	D	0.96821	0.8962	M	0.63428	1.95	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.97131	0.9818	10	0.87932	D	0	-0.6655	14.379	0.66900	0.0:0.0:0.8515:0.1485	.	321	Q96NK8	NDF6_HUMAN	C	321	ENSP00000297142:R321C	ENSP00000297142:R321C	R	-	1	0	NEUROD6	31344447	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.496000	0.81526	2.386000	0.81285	0.650000	0.86243	CGC		0.478	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		10	145	0	0	0	1	0	10	145				
ZNF24	7572	broad.mit.edu	37	18	32917272	32917272	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr18:32917272T>C	ENST00000261332.6	-	4	1210	c.1031A>G	c.(1030-1032)tAt>tGt	p.Y344C	ZNF24_ENST00000589881.1_3'UTR|ZNF24_ENST00000399061.3_Missense_Mutation_p.Y344C	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	344					myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.Y344C(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						GCTTTGACTATACGATTTCCC	0.358																																					Colon(42;769 913 8916 19469 46270)	ENST00000261332.6																			1	Substitution - Missense(1)	p.Y344C(1)	prostate(1)	endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						c.(1030-1032)tAt>tGt		zinc finger protein 24							95.0	97.0	97.0					18																	32917272		2203	4300	6503	SO:0001583	missense	7572				myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32917272T>C	AF016052	CCDS11912.1	18q12	2013-01-09	2006-05-10		ENSG00000172466	ENSG00000172466		"""-"", ""Zinc fingers, C2H2-type"""	13032	protein-coding gene	gene with protein product		194534	"""zinc finger protein 24 (KOX 17)"""	ZNF191			Standard	NM_006965		Approved	ZSCAN3, Zfp191, KOX17	uc002kys.2	P17028	OTTHUMG00000132565	ENST00000261332.6:c.1031A>G	18.37:g.32917272T>C	ENSP00000261332:p.Tyr344Cys					ZNF24_ENST00000399061.3_Missense_Mutation_p.Y344C|ZNF24_ENST00000589881.1_3'UTR	p.Y344C	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN			4	1210	-			344					O14754|Q53YE4|Q6ICR5|Q8IZN4	Missense_Mutation	SNP	ENST00000261332.6	37	c.1031A>G	CCDS11912.1	.	.	.	.	.	.	.	.	.	.	T	15.07	2.725399	0.48833	.	.	ENSG00000172466	ENST00000261332;ENST00000399061	T;T	0.19806	2.12;2.12	5.14	3.92	0.45320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000096	T	0.23054	0.0557	N	0.10837	0.055	0.41251	D	0.986713	D	0.76494	0.999	D	0.73380	0.98	T	0.07328	-1.0778	10	0.87932	D	0	.	8.0998	0.30850	0.2963:0.0:0.0:0.7037	.	344	P17028	ZNF24_HUMAN	C	344	ENSP00000261332:Y344C;ENSP00000382015:Y344C	ENSP00000261332:Y344C	Y	-	2	0	ZNF24	31171270	0.996000	0.38824	0.990000	0.47175	0.929000	0.56500	3.288000	0.51739	2.164000	0.68074	0.533000	0.62120	TAT		0.358	ZNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255769.1	NM_006965		21	169	0	0	0	1	0	21	169				
TMPRSS7	344805	broad.mit.edu	37	3	111795794	111795794	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr3:111795794C>T	ENST00000452346.2	+	16	2030	c.2027C>T	c.(2026-2028)cCg>cTg	p.P676L	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.P550L			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	676	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.P405L(1)|p.P550L(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TTTGTCTCCCCGGTGAGAAGA	0.453																																						ENST00000452346.2																			2	Substitution - Missense(2)	p.P405L(1)|p.P550L(1)	prostate(2)	breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(2026-2028)cCg>cTg		transmembrane protease, serine 7							215.0	205.0	208.0					3																	111795794		1961	4167	6128	SO:0001583	missense	344805				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr3:111795794C>T	BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.2027C>T	3.37:g.111795794C>T	ENSP00000398236:p.Pro676Leu					TMPRSS7_ENST00000419127.1_Missense_Mutation_p.P550L	p.P676L			Q7RTY8	TMPS7_HUMAN			16	2030	+			676			Peptidase S1.		C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	ENST00000452346.2	37	c.2027C>T		.	.	.	.	.	.	.	.	.	.	C	16.46	3.128409	0.56721	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	D;D	0.88586	-2.4;-2.4	6.11	6.11	0.99139	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.130922	0.52532	D	0.000071	T	0.79621	0.4477	N	0.24115	0.695	0.46631	D	0.999137	P;P	0.49307	0.922;0.911	B;B	0.33799	0.153;0.17	T	0.79179	-0.1910	10	0.21540	T	0.41	.	17.651	0.88164	0.0:1.0:0.0:0.0	.	676;550	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	L	676;664;650;550	ENSP00000398236:P676L;ENSP00000411645:P550L	ENSP00000411645:P550L	P	+	2	0	TMPRSS7	113278484	0.979000	0.34478	0.972000	0.41901	0.958000	0.62258	3.474000	0.53129	2.906000	0.99361	0.655000	0.94253	CCG		0.453	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599		121	215	0	0	0	1	0	121	215				
PIP5K1C	23396	broad.mit.edu	37	19	3661952	3661952	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr19:3661952G>T	ENST00000335312.3	-	4	355	c.267C>A	c.(265-267)taC>taA	p.Y89*	PIP5K1C_ENST00000539785.1_Nonsense_Mutation_p.Y89*|PIP5K1C_ENST00000537021.1_Nonsense_Mutation_p.Y89*|PIP5K1C_ENST00000589578.1_Nonsense_Mutation_p.Y89*|PIP5K1C_ENST00000587482.1_5'UTR	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	89	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)	p.Y89*(1)		large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		GGCCCACGGTGTAGCCGATGC	0.682																																					Esophageal Squamous(135;99 1744 12852 27186 39851)	ENST00000335312.3																			1	Substitution - Nonsense(1)	p.Y89*(1)	prostate(1)	large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9						c.(265-267)taC>taA		phosphatidylinositol-4-phosphate 5-kinase, type I, gamma							82.0	52.0	62.0					19																	3661952		2200	4300	6500	SO:0001587	stop_gained	23396				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	g.chr19:3661952G>T	AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.267C>A	19.37:g.3661952G>T	ENSP00000335333:p.Tyr89*					PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000539785.1_Nonsense_Mutation_p.Y89*|PIP5K1C_ENST00000537021.1_Nonsense_Mutation_p.Y89*|PIP5K1C_ENST00000589578.1_Nonsense_Mutation_p.Y89*	p.Y89*	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)	4	355	-		Hepatocellular(1079;0.137)	89			PIPK.		B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Nonsense_Mutation	SNP	ENST00000335312.3	37	c.267C>A	CCDS32872.1	.	.	.	.	.	.	.	.	.	.	G	37	5.998121	0.97184	.	.	ENSG00000186111	ENST00000335312;ENST00000539785;ENST00000537021	.	.	.	4.76	4.76	0.60689	.	0.061955	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-27.2564	12.6126	0.56560	0.0839:0.0:0.9161:0.0	.	.	.	.	X	89	.	ENSP00000335333:Y89X	Y	-	3	2	PIP5K1C	3612952	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.044000	0.57361	2.348000	0.79779	0.655000	0.94253	TAC		0.682	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453432.2	NM_012398		5	15	1	0	0.000602214	1	0.000656961	5	15				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	80	0	0	0	1	0	4	80				
PCDHGC4	56098	broad.mit.edu	37	5	140865886	140865886	+	Silent	SNP	C	C	T	rs148184642		TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr5:140865886C>T	ENST00000306593.1	+	1	1146	c.1146C>T	c.(1144-1146)aaC>aaT	p.N382N	PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGC5_ENST00000252087.1_5'Flank|PCDHGA11_ENST00000518882.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	382	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N382N(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGGTCAAACGGAGATGTGA	0.562													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19270	0.0		0.0	False		,,,				2504	0.0					ENST00000306593.1																			1	Substitution - coding silent(1)	p.N382N(1)	prostate(1)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42						c.(1144-1146)aaC>aaT				C	,,,,,,,,,,,,,,,,,,,,,,,	10,4396	17.9+/-39.9	0,10,2193	118.0	98.0	104.0		,,,,,,,,,,,,,,,,,,,1146,,,,1146	-6.2	0.4	5	dbSNP_134	104	0,8600		0,0,4300	no	intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous,intron,intron,intron,coding-synonymous	PCDHGC3,PCDHGB4,PCDHGA8,PCDHGA12,PCDHGC4,PCDHGB7,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA11,PCDHGA10,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_002588.2,NM_003735.2,NM_003736.2,NM_018912.2,NM_018913.2,NM_018914.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_018926.2,NM_018927.3,NM_018928.2,NM_032088.1,NM_032092.1,NM_032403.1,NM_032406.1	,,,,,,,,,,,,,,,,,,,,,,,	0,10,6493	TT,TC,CC		0.0,0.227,0.0769	,,,,,,,,,,,,,,,,,,,,,,,	,,,,,,,,,,,,,,,,,,,382/939,,,,382/872	140865886	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140865886C>T	AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.1146C>T	5.37:g.140865886C>T						PCDHGB7_ENST00000398594.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron	p.N382N	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1146	+								Q495T2|Q9Y5C3	Silent	SNP	ENST00000306593.1	37	c.1146C>T	CCDS4262.1																																																																																				0.562	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928		6	98	0	0	0	1	0	6	98				
ITGA10	8515	broad.mit.edu	37	1	145530284	145530284	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr1:145530284G>T	ENST00000369304.3	+	6	674	c.499G>T	c.(499-501)Gat>Tat	p.D167Y	ITGA10_ENST00000538811.1_Missense_Mutation_p.D36Y|ITGA10_ENST00000539363.1_Missense_Mutation_p.D24Y	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	167	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)	p.D167Y(2)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AACATACATGGATGTTGTCAT	0.498																																						ENST00000369304.3																			2	Substitution - Missense(2)	p.D167Y(2)	prostate(2)	NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(499-501)Gat>Tat		integrin, alpha 10							224.0	175.0	191.0					1																	145530284		2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145530284G>T	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.499G>T	1.37:g.145530284G>T	ENSP00000358310:p.Asp167Tyr					ITGA10_ENST00000539363.1_Missense_Mutation_p.D24Y|ITGA10_ENST00000538811.1_Missense_Mutation_p.D36Y	p.D167Y	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN			6	674	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		167			VWFA.		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.499G>T	CCDS918.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.559049	0.86335	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.77229	-1.08;-1.08;-1.08	5.22	5.22	0.72569	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000001	D	0.90645	0.7066	H	0.95365	3.66	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.93183	0.6576	10	0.87932	D	0	.	16.2851	0.82714	0.0:0.0:1.0:0.0	.	133;36;24;167	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	Y	167;133;24;36	ENSP00000358310:D167Y;ENSP00000439894:D24Y;ENSP00000440011:D36Y	ENSP00000358310:D167Y	D	+	1	0	ITGA10	144241641	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.336000	0.96533	2.452000	0.82932	0.650000	0.86243	GAT		0.498	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		7	205	1	0	0.00448238	1	0.00480255	7	205				
CATSPER1	117144	broad.mit.edu	37	11	65793239	65793239	+	Silent	SNP	G	G	A			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr11:65793239G>A	ENST00000312106.5	-	1	749	c.612C>T	c.(610-612)caC>caT	p.H204H		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	204	His-rich.				calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.H204H(1)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GGGACTCATCGTGTTGGAGCC	0.617																																						ENST00000312106.5																			1	Substitution - coding silent(1)	p.H204H(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(610-612)caC>caT		cation channel, sperm associated 1							86.0	76.0	79.0					11																	65793239		2201	4296	6497	SO:0001819	synonymous_variant	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65793239G>A	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.612C>T	11.37:g.65793239G>A							p.H204H	NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN			1	749	-			204			His-rich.		Q96P76	Silent	SNP	ENST00000312106.5	37	c.612C>T	CCDS8127.1																																																																																				0.617	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		5	137	0	0	0	1	0	5	137				
SOD3	6649	broad.mit.edu	37	4	24801303	24801303	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr4:24801303G>A	ENST00000382120.3	+	2	365	c.160G>A	c.(160-162)Gac>Aac	p.D54N		NM_003102.2	NP_003093.2	P08294	SODE_HUMAN	superoxide dismutase 3, extracellular	54					removal of superoxide radicals (GO:0019430)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	copper ion binding (GO:0005507)|heparin binding (GO:0008201)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)	p.D54N(1)		prostate(1)|urinary_tract(1)	2		Breast(46;0.0503)				GCAGCGGCGGGACGACGACGG	0.716																																						ENST00000382120.3																			1	Substitution - Missense(1)	p.D54N(1)	prostate(1)	prostate(1)|urinary_tract(1)	2						c.(160-162)Gac>Aac		superoxide dismutase 3, extracellular							13.0	10.0	11.0					4																	24801303		2174	4259	6433	SO:0001583	missense	6649				removal of superoxide radicals	extracellular space|nucleus|soluble fraction	copper ion binding|heparin binding|protein binding|superoxide dismutase activity|zinc ion binding	g.chr4:24801303G>A		CCDS3430.1	4p15.2	2012-09-20			ENSG00000109610	ENSG00000109610	1.15.1.1		11181	protein-coding gene	gene with protein product		185490					Standard	NM_003102		Approved	EC-SOD	uc003gqz.3	P08294	OTTHUMG00000128565	ENST00000382120.3:c.160G>A	4.37:g.24801303G>A	ENSP00000371554:p.Asp54Asn						p.D54N	NM_003102.2	NP_003093.2	P08294	SODE_HUMAN			2	365	+		Breast(46;0.0503)	54					Q5U781|Q6FHA2	Missense_Mutation	SNP	ENST00000382120.3	37	c.160G>A	CCDS3430.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472945	0.43942	.	.	ENSG00000109610	ENST00000382120	D	0.98633	-5.04	4.91	1.99	0.26369	Superoxide dismutase, copper/zinc binding domain (1);	2.117440	0.02720	U	0.113847	D	0.95645	0.8584	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	D	0.90388	0.4393	10	0.59425	D	0.04	-13.0529	4.2855	0.10853	0.1191:0.2813:0.4782:0.1214	.	54	P08294	SODE_HUMAN	N	54	ENSP00000371554:D54N	ENSP00000371554:D54N	D	+	1	0	SOD3	24410401	.	.	0.001000	0.08648	0.100000	0.18952	.	.	0.992000	0.38840	0.561000	0.74099	GAC		0.716	SOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250416.1			14	8	0	0	0	1	0	14	8				
GBP7	388646	broad.mit.edu	37	1	89630482	89630482	+	Missense_Mutation	SNP	G	G	A	rs146946502		TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr1:89630482G>A	ENST00000294671.2	-	3	388	c.250C>T	c.(250-252)Ccc>Tcc	p.P84S		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	84	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		GAGGGGTGGGGCACACACCAC	0.498																																						ENST00000294671.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(250-252)Ccc>Tcc		guanylate binding protein 7							108.0	101.0	103.0					1																	89630482		2203	4300	6503	SO:0001583	missense	388646					integral to membrane	GTP binding|GTPase activity	g.chr1:89630482G>A	AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.250C>T	1.37:g.89630482G>A	ENSP00000294671:p.Pro84Ser						p.P84S	NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN		all cancers(265;0.00835)|Epithelial(280;0.0322)	3	388	-		Lung NSC(277;0.0908)	84						Missense_Mutation	SNP	ENST00000294671.2	37	c.250C>T	CCDS720.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.718131	0.68844	.	.	ENSG00000213512	ENST00000294671	T	0.76060	-0.99	3.62	3.62	0.41486	Guanylate-binding protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84889	0.5572	M	0.91768	3.24	0.37918	D	0.931603	D	0.59767	0.986	D	0.66084	0.941	D	0.88354	0.2983	10	0.72032	D	0.01	.	13.1291	0.59371	0.0:0.0:1.0:0.0	.	84	Q8N8V2	GBP7_HUMAN	S	84	ENSP00000294671:P84S	ENSP00000294671:P84S	P	-	1	0	GBP7	89403070	1.000000	0.71417	0.359000	0.25824	0.863000	0.49368	5.421000	0.66447	2.008000	0.58898	0.462000	0.41574	CCC		0.498	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398		4	90	0	0	0	1	0	4	90				
AMOT	154796	broad.mit.edu	37	X	112058796	112058796	+	Silent	SNP	C	C	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chrX:112058796C>T	ENST00000524145.1	-	3	1256	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	AMOT_ENST00000371959.3_Silent_p.Q394Q|AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000304758.1_5'UTR			Q4VCS5	AMOT_HUMAN	angiomotin	394					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)	p.Q394Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						gctgctgctgctgttgttggt	0.582																																						ENST00000371959.3																			1	Substitution - coding silent(1)	p.Q394Q(1)	lung(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1180-1182)caG>caA		angiomotin							38.0	34.0	36.0					X																	112058796		2203	4300	6503	SO:0001819	synonymous_variant	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112058796C>T	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1182G>A	X.37:g.112058796C>T						AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000524145.1_Silent_p.Q394Q|AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371958.1_Silent_p.Q162Q	p.Q394Q	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			2	1181	-			394					Q504X5|Q9HD27|Q9UPT1	Silent	SNP	ENST00000524145.1	37	c.1182G>A	CCDS48154.1																																																																																				0.582	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		3	29	0	0	0	1	0	3	29				
P2RY1	5028	broad.mit.edu	37	3	152554551	152554551	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr3:152554551C>T	ENST00000305097.3	+	1	1816	c.980C>T	c.(979-981)gCg>gTg	p.A327V	RP11-38P22.2_ENST00000460407.1_lincRNA	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	327					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)	p.A327V(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TATTTCTTGGCGGGAGATACT	0.463																																						ENST00000305097.3																			1	Substitution - Missense(1)	p.A327V(1)	prostate(1)	breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23						c.(979-981)gCg>gTg		purinergic receptor P2Y, G-protein coupled, 1							61.0	65.0	64.0					3																	152554551		2203	4300	6503	SO:0001583	missense	5028				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:152554551C>T	U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.980C>T	3.37:g.152554551C>T	ENSP00000304767:p.Ala327Val						p.A327V	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	1816	+			327						Missense_Mutation	SNP	ENST00000305097.3	37	c.980C>T	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810925	0.70797	.	.	ENSG00000169860	ENST00000305097	T	0.24538	1.85	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.19525	0.0469	N	0.08118	0	0.80722	D	1	D	0.65815	0.995	P	0.52189	0.692	T	0.02444	-1.1158	10	0.02654	T	1	.	17.7371	0.88396	0.0:1.0:0.0:0.0	.	327	P47900	P2RY1_HUMAN	V	327	ENSP00000304767:A327V	ENSP00000304767:A327V	A	+	2	0	P2RY1	154037241	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	5.988000	0.70579	2.419000	0.82065	0.563000	0.77884	GCG		0.463	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	NM_002563		5	129	0	0	0	1	0	5	129				
SLC35G6	643664	broad.mit.edu	37	17	7385391	7385391	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr17:7385391T>C	ENST00000412468.2	+	2	203	c.88T>C	c.(88-90)Tgc>Cgc	p.C30R	ZBTB4_ENST00000380599.4_5'Flank|POLR2A_ENST00000322644.6_5'Flank|POLR2A_ENST00000572844.1_5'Flank|ZBTB4_ENST00000311403.4_Intron	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	30						integral component of membrane (GO:0016021)											CTGGCACCAGTGCTGCCAGCC	0.657																																						ENST00000412468.2																			0											c.(88-90)Tgc>Cgc		solute carrier family 35, member G6							49.0	54.0	52.0					17																	7385391		2202	4299	6501	SO:0001583	missense	643664					integral to membrane		g.chr17:7385391T>C		CCDS45603.1	17p13.1	2013-05-22	2011-08-03	2011-08-03		ENSG00000259224		"""Solute carriers"""	31351	protein-coding gene	gene with protein product			"""transmembrane protein 21B"", ""acyl-malonyl condensing enzyme 1-like 3"""	TMEM21B, AMAC1L3			Standard	NM_001102614		Approved		uc010cmj.1	P0C7Q6		ENST00000412468.2:c.88T>C	17.37:g.7385391T>C	ENSP00000396523:p.Cys30Arg					ZBTB4_ENST00000311403.4_Intron	p.C30R	NM_001102614.1	NP_001096084.1	P0C7Q6	AMCL3_HUMAN			2	203	+			30						Missense_Mutation	SNP	ENST00000412468.2	37	c.88T>C	CCDS45603.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.397758	0.01175	.	.	ENSG00000181222	ENST00000412468	T	0.20881	2.04	4.21	3.24	0.37175	.	.	.	.	.	T	0.06962	0.0177	N	0.01576	-0.805	0.31793	N	0.629428	B	0.02656	0.0	B	0.01281	0.0	T	0.30707	-0.9969	9	0.15952	T	0.53	-3.2098	8.037	0.30499	0.0:0.8008:0.0:0.1992	.	30	P0C7Q6	S35G6_HUMAN	R	30	ENSP00000396523:C30R	ENSP00000396523:C30R	C	+	1	0	SLC35G6	7326115	0.994000	0.37717	0.974000	0.42286	0.582000	0.36321	0.540000	0.23191	0.373000	0.24621	-0.355000	0.07637	TGC		0.657	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		3	100	0	0	0	1	0	3	100				
ZIC1	7545	broad.mit.edu	37	3	147128521	147128521	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr3:147128521C>A	ENST00000282928.4	+	1	1351	c.622C>A	c.(622-624)Cac>Aac	p.H208N		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	208					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H208N(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GGCCGCGCATCACGGCGCCGG	0.642																																						ENST00000282928.4																			1	Substitution - Missense(1)	p.H208N(1)	prostate(1)	central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(622-624)Cac>Aac		Zic family member 1							44.0	46.0	45.0					3																	147128521		2203	4300	6503	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128521C>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.622C>A	3.37:g.147128521C>A	ENSP00000282928:p.His208Asn						p.H208N	NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN			1	1351	+			208					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.622C>A	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052349	0.75960	.	.	ENSG00000152977	ENST00000282928	T	0.40476	1.03	3.31	3.31	0.37934	.	0.000000	0.85682	D	0.000000	T	0.52256	0.1723	M	0.76727	2.345	0.80722	D	1	P	0.46656	0.882	P	0.49047	0.599	T	0.59484	-0.7446	10	0.42905	T	0.14	.	15.1323	0.72533	0.0:1.0:0.0:0.0	.	208	Q15915	ZIC1_HUMAN	N	208	ENSP00000282928:H208N	ENSP00000282928:H208N	H	+	1	0	ZIC1	148611211	1.000000	0.71417	0.941000	0.38009	0.962000	0.63368	7.351000	0.79395	1.847000	0.53656	0.549000	0.68633	CAC		0.642	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		15	64	1	0	6.31663e-08	1	7.28842e-08	15	64				
IL21R	50615	broad.mit.edu	37	16	27455956	27455956	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr16:27455956C>T	ENST00000337929.3	+	6	1074	c.601C>T	c.(601-603)Cgg>Tgg	p.R201W	IL21R_ENST00000564089.1_Missense_Mutation_p.R201W|IL21R_ENST00000395754.4_Missense_Mutation_p.R201W|IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000395755.1_Missense_Mutation_p.R201W	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	201	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> L (in IL21RID; loss of function mutation; the mutation results in defective trafficking of the protein, with misfolding, impaired processing and abnormal subcellular distribution rather than proper expression at the plasma membrane). {ECO:0000269|PubMed:23440042}.		interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)	p.R201W(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GCTGCAGGTGCGGGCAGGGCC	0.597			T	BCL6	NHL																																	ENST00000337929.3				Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		1	Substitution - Missense(1)	p.R201W(1)	prostate(1)	breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						c.(601-603)Cgg>Tgg		interleukin 21 receptor							84.0	80.0	82.0					16																	27455956		2197	4300	6497	SO:0001583	missense	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27455956C>T	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.601C>T	16.37:g.27455956C>T	ENSP00000338010:p.Arg201Trp					IL21R_ENST00000395755.1_Missense_Mutation_p.R201W|IL21R_ENST00000395754.4_Missense_Mutation_p.R201W|IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000564089.1_Missense_Mutation_p.R201W	p.R201W	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN			6	1074	+			201			Fibronectin type-III.		A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	37	c.601C>T	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.917048	0.73098	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	D;D;D	0.97575	-4.44;-4.44;-4.44	4.3	4.3	0.51218	Short hematopoietin receptor, family 1, conserved site (1);Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.067143	0.64402	D	0.000015	D	0.98134	0.9384	M	0.81497	2.545	0.49915	D	0.999836	D	0.89917	1.0	D	0.97110	1.0	D	0.98773	1.0729	10	0.87932	D	0	-32.3698	12.2813	0.54765	0.0:1.0:0.0:0.0	.	201	Q9HBE5	IL21R_HUMAN	W	201	ENSP00000338010:R201W;ENSP00000379104:R201W;ENSP00000379103:R201W	ENSP00000338010:R201W	R	+	1	2	IL21R	27363457	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	1.974000	0.40559	1.936000	0.56123	0.561000	0.74099	CGG		0.597	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		8	239	0	0	0	1	0	8	239				
SLITRK5	26050	broad.mit.edu	37	13	88329453	88329453	+	Missense_Mutation	SNP	C	C	T	rs371327441		TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr13:88329453C>T	ENST00000325089.6	+	2	2029	c.1810C>T	c.(1810-1812)Cgc>Tgc	p.R604C	SLITRK5_ENST00000400028.3_Missense_Mutation_p.R363C	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	604	LRRCT 2.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.R604C(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GACCGACATGCGCTCCATTAA	0.567																																						ENST00000325089.6																			1	Substitution - Missense(1)	p.R604C(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(1810-1812)Cgc>Tgc		SLIT and NTRK-like family, member 5		C	CYS/ARG	0,4406		0,0,2203	165.0	150.0	155.0		1810	4.5	1.0	13		155	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLITRK5	NM_015567.1	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	604/959	88329453	1,13005	2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88329453C>T	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1810C>T	13.37:g.88329453C>T	ENSP00000366283:p.Arg604Cys					SLITRK5_ENST00000400028.3_Missense_Mutation_p.R363C	p.R604C	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	2029	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		604			LRRCT 2.		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.1810C>T	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.011439	0.54468	0.0	1.16E-4	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.61158	0.13;0.49	5.47	4.54	0.55810	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78033	0.4220	M	0.87971	2.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.987;0.993	T	0.81450	-0.0927	9	.	.	.	-15.1954	14.535	0.67953	0.1566:0.8434:0.0:0.0	.	363;604	B4DSH5;O94991	.;SLIK5_HUMAN	C	604;363	ENSP00000366283:R604C;ENSP00000442244:R363C	.	R	+	1	0	SLITRK5	87127454	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.167000	0.50793	2.554000	0.86153	0.555000	0.69702	CGC		0.567	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			21	208	0	0	0	1	0	21	208				
EPPK1	83481	broad.mit.edu	37	8	144942667	144942667	+	Missense_Mutation	SNP	C	C	A	rs111431754		TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr8:144942667C>A	ENST00000525985.1	-	2	4826	c.4755G>T	c.(4753-4755)atG>atT	p.M1585I				P58107	EPIPL_HUMAN	epiplakin 1	1585						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.M1585I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGGGATGCTCATCCTCTCCT	0.647																																						ENST00000525985.1																			1	Substitution - Missense(1)	p.M1585I(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(4753-4755)atG>atT		epiplakin 1							23.0	26.0	25.0					8																	144942667		2037	4174	6211	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144942667C>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.4755G>T	8.37:g.144942667C>A	ENSP00000436337:p.Met1585Ile						p.M1585I			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	4826	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1585					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.4755G>T		.	.	.	.	.	.	.	.	.	.	C	14.83	2.651173	0.47362	.	.	ENSG00000227184	ENST00000525985	T	0.72394	-0.65	4.41	4.41	0.53225	.	.	.	.	.	T	0.73179	0.3554	L	0.38953	1.18	0.29171	N	0.877109	D	0.54772	0.968	P	0.60886	0.88	T	0.64145	-0.6476	9	0.15499	T	0.54	.	14.5607	0.68133	0.0:1.0:0.0:0.0	.	1585	E9PPU0	.	I	1585	ENSP00000436337:M1585I	ENSP00000436337:M1585I	M	-	3	0	EPPK1	145014655	1.000000	0.71417	0.966000	0.40874	0.994000	0.84299	1.935000	0.40173	2.280000	0.76307	0.591000	0.81541	ATG		0.647	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		33	26	1	0	1.30897e-18	1	1.53997e-18	33	26				
TTN	7273	broad.mit.edu	37	2	179426189	179426189	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr2:179426189T>G	ENST00000591111.1	-	276	79971	c.79747A>C	c.(79747-79749)Atg>Ctg	p.M26583L	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M19284L|TTN_ENST00000460472.2_Missense_Mutation_p.M19159L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M19351L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.M28224L|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M25656L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26583	Fibronectin type-III 93. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.M19159L(2)|p.M19351L(1)|p.M25656L(1)|p.M19284L(1)|p.M25654L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACTCATACATCAGTCCTTCA	0.398																																						ENST00000589042.1																			6	Substitution - Missense(6)	p.M19159L(2)|p.M19351L(1)|p.M25656L(1)|p.M19284L(1)|p.M25654L(1)	prostate(6)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(84670-84672)Atg>Ctg		titin							128.0	119.0	122.0					2																	179426189		1891	4133	6024	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179426189T>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.79747A>C	2.37:g.179426189T>G	ENSP00000465570:p.Met26583Leu					TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M19159L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M25656L|TTN_ENST00000342175.6_Missense_Mutation_p.M19351L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M26583L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M19284L	p.M28224L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	84894	-			26583			Ig-like 131.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.84670A>C		.	.	.	.	.	.	.	.	.	.	T	11.16	1.556568	0.27827	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.91	-1.66	0.08265	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.29684	0.0741	N	0.12920	0.275	0.33742	D	0.619601	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.09818	-1.0657	9	0.87932	D	0	.	4.9091	0.13812	0.1074:0.0612:0.3266:0.5048	.	19159;19284;19351;26583	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	25656;19159;19351;19284;19157	ENSP00000343764:M25656L;ENSP00000434586:M19159L;ENSP00000340554:M19351L;ENSP00000352154:M19284L	ENSP00000340554:M19351L	M	-	1	0	TTN	179134435	0.000000	0.05858	0.965000	0.40720	0.986000	0.74619	-0.417000	0.07088	-0.489000	0.06716	0.477000	0.44152	ATG		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		74	149	0	0	0	1	0	74	149				
FUT8	2530	broad.mit.edu	37	14	66208993	66208993	+	Silent	SNP	G	G	C			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr14:66208993G>C	ENST00000360689.5	+	11	3320	c.1593G>C	c.(1591-1593)gtG>gtC	p.V531V	FUT8_ENST00000394585.1_Silent_p.V531V|FUT8_ENST00000394586.2_Silent_p.V531V|FUT8_ENST00000557164.1_Silent_p.V368V|FUT8_ENST00000417683.1_Silent_p.V125V|FUT8_ENST00000358307.2_Silent_p.V402V	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	531	SH3.				cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)	p.V531V(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TCATTGGTGTGGCTGGAAATC	0.463																																						ENST00000360689.5																			2	Substitution - coding silent(2)	p.V531V(2)	prostate(2)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(1591-1593)gtG>gtC		fucosyltransferase 8 (alpha (1,6) fucosyltransferase)							123.0	122.0	123.0					14																	66208993		2203	4300	6503	SO:0001819	synonymous_variant	2530				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	g.chr14:66208993G>C	AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"""Fucosyltransferases"""	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.1593G>C	14.37:g.66208993G>C						FUT8_ENST00000417683.1_Silent_p.V125V|FUT8_ENST00000394586.2_Silent_p.V531V|FUT8_ENST00000557164.1_Silent_p.V368V|FUT8_ENST00000394585.1_Silent_p.V531V|FUT8_ENST00000358307.2_Silent_p.V402V	p.V531V	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	11	3320	+			531			SH3.		B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Silent	SNP	ENST00000360689.5	37	c.1593G>C	CCDS9775.1																																																																																				0.463	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1	NM_004480		20	181	0	0	0	1	0	20	181				
TMEM243	79161	broad.mit.edu	37	7	86848787	86848787	+	Silent	SNP	G	G	A			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr7:86848787G>A	ENST00000433078.1	-	2	474	c.33C>T	c.(31-33)acC>acT	p.T11T	TMEM243_ENST00000257637.3_Silent_p.T11T|Y_RNA_ENST00000363527.1_RNA|TMEM243_ENST00000423734.1_Silent_p.T11T|TMEM243_ENST00000481425.1_5'Flank			Q9BU79	TM243_HUMAN	transmembrane protein 243, mitochondrial	11						integral component of membrane (GO:0016021)		p.T11T(1)									CCAGGCCACTGGTGCCGTAGG	0.572																																						ENST00000433078.1																			1	Substitution - coding silent(1)	p.T11T(1)	prostate(1)								c.(31-33)acC>acT		transmembrane protein 243, mitochondrial							117.0	101.0	107.0					7																	86848787		2203	4300	6503	SO:0001819	synonymous_variant	79161							g.chr7:86848787G>A		CCDS5602.1	7q21.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000135185	ENSG00000135185			21707	protein-coding gene	gene with protein product	"""MDR1 and mitochondrial taxol resistance associated gene"""		"""chromosome 7 open reading frame 23"""	C7orf23			Standard	NM_024315		Approved	MGC4175, MM-TRAG	uc003uio.3	Q9BU79	OTTHUMG00000130823	ENST00000433078.1:c.33C>T	7.37:g.86848787G>A						TMEM243_ENST00000423734.1_Silent_p.T11T|TMEM243_ENST00000257637.3_Silent_p.T11T	p.T11T							2	474	-								A4D1C6|B2R9I4|D6W5P1	Silent	SNP	ENST00000433078.1	37	c.33C>T	CCDS5602.1																																																																																				0.572	TMEM243-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334412.1	NM_024315		16	68	0	0	0	1	0	16	68				
ABCC9	10060	broad.mit.edu	37	12	22035727	22035727	+	Silent	SNP	G	G	A			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr12:22035727G>A	ENST00000261201.4	-	14	1991	c.1992C>T	c.(1990-1992)ccC>ccT	p.P664P	ABCC9_ENST00000345162.2_Intron|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261200.4_Silent_p.P664P	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	664					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.P664P(3)|p.A665fs*57(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CTGTTTCTGCGGGACGTAGAC	0.383																																						ENST00000261200.4																			5	Substitution - coding silent(3)|Insertion - Frameshift(2)	p.P664P(3)|p.A665fs*57(2)	lung(2)|breast(2)|prostate(1)	NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(1990-1992)ccC>ccT		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						175.0	144.0	154.0					12																	22035727		2203	4300	6503	SO:0001819	synonymous_variant	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22035727G>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.1992C>T	12.37:g.22035727G>A						ABCC9_ENST00000345162.2_Intron|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Silent_p.P664P	p.P664P	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			14	1991	-			664					O60707	Silent	SNP	ENST00000261201.4	37	c.1992C>T	CCDS8694.1																																																																																				0.383	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		56	232	0	0	0	1	0	56	232				
NBEAP1	606	broad.mit.edu	37	15	20874901	20874901	+	RNA	SNP	G	G	A			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr15:20874901G>A	ENST00000556948.1	-	0	347							P0C6P0	BCL8_HUMAN	neurobeachin pseudogene 1																		TTCTGCATATGGTGGTGTAGA	0.333																																						ENST00000556948.1																			0																																																			0							g.chr15:20874901G>A			15q11.2	2014-03-20	2011-05-03	2011-05-03	ENSG00000258590	ENSG00000258590			1007	pseudogene	pseudogene		601889	"""B-cell CLL/lymphoma 8"""	BCL8		9159141	Standard	NR_027992		Approved	BCL8A	uc010tze.1	P0C6P0	OTTHUMG00000171717		15.37:g.20874901G>A														0	347	-									RNA	SNP	ENST00000556948.1	37																																																																																						0.333	NBEAP1-002	KNOWN	not_best_in_genome_evidence|basic	retained_intron	pseudogene	OTTHUMT00000414853.1	NR_027992		3	67	0	0	0	1	0	3	67				
SLCO6A1	133482	broad.mit.edu	37	5	101834316	101834316	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr5:101834316G>A	ENST00000506729.1	-	1	404	c.233C>T	c.(232-234)cCg>cTg	p.P78L	SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.P78L|RP11-58B2.1_ENST00000502494.1_RNA|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.P78L|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.P78L|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.P78L			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	78				KPG -> NRE (in Ref. 1; AAP33048). {ECO:0000305}.		integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.P78L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CACTTCTCCCGGCTTCTTGGA	0.488																																						ENST00000506729.1																			1	Substitution - Missense(1)	p.P78L(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(232-234)cCg>cTg		solute carrier organic anion transporter family, member 6A1							129.0	135.0	133.0					5																	101834316		2203	4300	6503	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101834316G>A	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.233C>T	5.37:g.101834316G>A	ENSP00000421339:p.Pro78Leu					SLCO6A1_ENST00000513675.1_Missense_Mutation_p.P78L|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.P78L|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.P78L|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.P78L	p.P78L			Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	1	404	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	78	KPG -> NRE (in Ref. 1; AAP33048).				A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.233C>T	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	G	8.602	0.887099	0.17540	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.44482	1.0;1.0;1.0;0.92;0.92	3.35	-6.71	0.01760	.	13.523300	0.00166	N	0.000001	T	0.18425	0.0442	N	0.14661	0.345	0.09310	N	1	B;B;B	0.10296	0.002;0.003;0.001	B;B;B	0.04013	0.001;0.001;0.0	T	0.28650	-1.0037	10	0.07175	T	0.84	.	2.3864	0.04366	0.3955:0.3457:0.1427:0.1162	.	78;78;78	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	L	78	ENSP00000421339:P78L;ENSP00000369135:P78L;ENSP00000373671:P78L;ENSP00000421990:P78L;ENSP00000369138:P78L	ENSP00000369135:P78L	P	-	2	0	SLCO6A1	101862215	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.183000	0.03079	-2.280000	0.00675	0.430000	0.28490	CCG		0.488	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		55	242	0	0	0	1	0	55	242				
KLHL4	56062	broad.mit.edu	37	X	86888856	86888856	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chrX:86888856G>A	ENST00000373119.4	+	8	1802	c.1657G>A	c.(1657-1659)Gta>Ata	p.V553I	KLHL4_ENST00000373114.4_Missense_Mutation_p.V553I	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	553						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.V553I(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GTGGAATTACGTAGCCAGTAT	0.433																																						ENST00000373119.4																			2	Substitution - Missense(2)	p.V553I(2)	prostate(2)	NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						c.(1657-1659)Gta>Ata		kelch-like family member 4							160.0	127.0	138.0					X																	86888856		2203	4300	6503	SO:0001583	missense	0					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86888856G>A	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1657G>A	X.37:g.86888856G>A	ENSP00000362211:p.Val553Ile					KLHL4_ENST00000373114.4_Missense_Mutation_p.V553I	p.V553I	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN			8	1802	+			553					B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.1657G>A	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577878	0.86645	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.78924	-1.22;-1.22	4.72	4.72	0.59763	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.81494	0.4834	L	0.37630	1.12	0.80722	D	1	D;D	0.71674	0.998;0.969	D;P	0.64595	0.927;0.565	T	0.81568	-0.0873	10	0.41790	T	0.15	.	15.7654	0.78123	0.0:0.0:1.0:0.0	.	553;553	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	I	553	ENSP00000362211:V553I;ENSP00000362206:V553I	ENSP00000362206:V553I	V	+	1	0	KLHL4	86775512	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	9.012000	0.93624	2.174000	0.68829	0.506000	0.49869	GTA		0.433	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			5	41	0	0	0	1	0	5	41				
CABP4	57010	broad.mit.edu	37	11	67223061	67223061	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr11:67223061G>A	ENST00000325656.5	+	1	244	c.167G>A	c.(166-168)gGc>gAc	p.G56D	CABP4_ENST00000542025.2_3'UTR|GPR152_ENST00000312457.2_5'Flank|CABP4_ENST00000438189.2_Intron	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	56					photoreceptor cell morphogenesis (GO:0008594)|phototransduction (GO:0007602)|retinal bipolar neuron differentiation (GO:0060040)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytosol (GO:0005829)|extracellular region (GO:0005576)|synapse (GO:0045202)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)	p.G56D(1)		central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			AAGCGCACTGGCAGCTCTGGG	0.687																																						ENST00000325656.5																			1	Substitution - Missense(1)	p.G56D(1)	prostate(1)	central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11						c.(166-168)gGc>gAc		calcium binding protein 4							13.0	14.0	14.0					11																	67223061		2186	4274	6460	SO:0001583	missense	57010				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding	g.chr11:67223061G>A	AC005849	CCDS8166.1, CCDS73333.1	11q13.2	2013-09-20			ENSG00000175544	ENSG00000175544		"""EF-hand domain containing"""	1386	protein-coding gene	gene with protein product		608965				10625670, 16960802	Standard	NM_145200		Approved	CSNB2B	uc001olo.3	P57796	OTTHUMG00000168033	ENST00000325656.5:c.167G>A	11.37:g.67223061G>A	ENSP00000324960:p.Gly56Asp					CABP4_ENST00000542025.2_3'UTR|CABP4_ENST00000438189.2_Intron	p.G56D	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		1	244	+			56					Q8N4Z2|Q8WWY5	Missense_Mutation	SNP	ENST00000325656.5	37	c.167G>A	CCDS8166.1	.	.	.	.	.	.	.	.	.	.	G	8.956	0.969339	0.18659	.	.	ENSG00000175544	ENST00000325656	T	0.67698	-0.28	4.74	1.51	0.23008	.	1.631250	0.03825	N	0.268157	T	0.62539	0.2436	L	0.54323	1.7	0.09310	N	0.999997	B	0.12013	0.005	B	0.08055	0.003	T	0.51004	-0.8760	10	0.87932	D	0	-8.099	6.4332	0.21809	0.1031:0.3743:0.5225:0.0	.	56	P57796	CABP4_HUMAN	D	56	ENSP00000324960:G56D	ENSP00000324960:G56D	G	+	2	0	CABP4	66979637	0.020000	0.18652	0.639000	0.29394	0.184000	0.23303	0.231000	0.17872	0.508000	0.28173	0.491000	0.48974	GGC		0.687	CABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397624.2			13	9	0	0	0	1	0	13	9				
SGSH	6448	broad.mit.edu	37	17	78187975	78187975	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr17:78187975A>G	ENST00000326317.6	-	5	745	c.659T>C	c.(658-660)gTg>gCg	p.V220A	SGSH_ENST00000570923.1_Missense_Mutation_p.C232R|SGSH_ENST00000534910.1_Missense_Mutation_p.V17A|SGSH_ENST00000572208.1_5'UTR	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	220					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)	p.V220A(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TCCTACCAGCACGTCCAGTGG	0.637																																						ENST00000326317.6																			1	Substitution - Missense(1)	p.V220A(1)	prostate(1)	central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(658-660)gTg>gCg		N-sulfoglucosamine sulfohydrolase							26.0	22.0	23.0					17																	78187975		2198	4300	6498	SO:0001583	missense	6448				proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity	g.chr17:78187975A>G	BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"""sulfamidase"", ""mucopolysaccharidosis type IIIA"""	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688		ENST00000326317.6:c.659T>C	17.37:g.78187975A>G	ENSP00000314606:p.Val220Ala					SGSH_ENST00000534910.1_Missense_Mutation_p.V17A|SGSH_ENST00000570923.1_Missense_Mutation_p.C232R|SGSH_ENST00000572208.1_5'UTR	p.V220A	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		5	745	-	all_neural(118;0.0952)		220					A8K5E2	Missense_Mutation	SNP	ENST00000326317.6	37	c.659T>C	CCDS11770.1	.	.	.	.	.	.	.	.	.	.	a	8.580	0.882166	0.17467	.	.	ENSG00000181523	ENST00000326317;ENST00000534910	D;D	0.98345	-4.88;-3.94	4.24	4.24	0.50183	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98346	0.9451	L	0.60904	1.88	0.58432	D	0.999996	D;D	0.76494	0.998;0.999	D;D	0.76575	0.988;0.978	D	0.98810	1.0743	10	0.56958	D	0.05	-32.8028	13.1925	0.59719	1.0:0.0:0.0:0.0	.	220;223	P51688;Q59EB1	SPHM_HUMAN;.	A	220;17	ENSP00000314606:V220A;ENSP00000437778:V17A	ENSP00000314606:V220A	V	-	2	0	SGSH	75802570	1.000000	0.71417	0.942000	0.38095	0.108000	0.19459	6.445000	0.73456	1.782000	0.52362	0.451000	0.29950	GTG		0.637	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	NM_000199		11	21	0	0	0	1	0	11	21				
LRRC16A	55604	broad.mit.edu	37	6	25472740	25472740	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr6:25472740G>T	ENST00000329474.6	+	11	1233	c.865G>T	c.(865-867)Gag>Tag	p.E289*	LRRC16A_ENST00000377969.3_Nonsense_Mutation_p.E128*	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	289					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)	p.E289*(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CAACCCACTGGAGGATAGAGG	0.423																																						ENST00000329474.6																			1	Substitution - Nonsense(1)	p.E289*(1)	prostate(1)	breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(865-867)Gag>Tag		leucine rich repeat containing 16A							45.0	41.0	42.0					6																	25472740		1872	4098	5970	SO:0001587	stop_gained	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25472740G>T	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.865G>T	6.37:g.25472740G>T	ENSP00000331983:p.Glu289*					LRRC16A_ENST00000377969.3_Nonsense_Mutation_p.E128*	p.E289*	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN			11	1233	+			289					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Nonsense_Mutation	SNP	ENST00000329474.6	37	c.865G>T	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	G	42	9.321060	0.99137	.	.	ENSG00000079691	ENST00000329474;ENST00000399313;ENST00000377969	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.9598	0.97242	0.0:0.0:1.0:0.0	.	.	.	.	X	289;289;128	.	ENSP00000331983:E289X	E	+	1	0	LRRC16A	25580719	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.668000	0.91158	2.716000	0.92895	0.655000	0.94253	GAG		0.423	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		2	1	1	0	1	1	1	2	1				
KIFC1	3833	broad.mit.edu	37	6	33377450	33377450	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr6:33377450C>T	ENST00000428849.2	+	11	2455	c.2005C>T	c.(2005-2007)Cag>Tag	p.Q669*	PHF1_ENST00000374516.3_5'Flank|PHF1_ENST00000374512.3_5'Flank	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	669					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)	p.Q669*(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						TGGTACTGCTCAGGCCAACAG	0.483																																						ENST00000428849.2																			2	Substitution - Nonsense(2)	p.Q669*(2)	prostate(1)|endometrium(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						c.(2005-2007)Cag>Tag		kinesin family member C1							229.0	183.0	198.0					6																	33377450		2203	4300	6503	SO:0001587	stop_gained	3833				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity	g.chr6:33377450C>T	D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"""Kinesins"""	6389	protein-coding gene	gene with protein product		603763	"""kinesin-like 2"""	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.2005C>T	6.37:g.33377450C>T	ENSP00000393963:p.Gln669*						p.Q669*	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN			11	2455	+			669					O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Nonsense_Mutation	SNP	ENST00000428849.2	37	c.2005C>T	CCDS34430.1	.	.	.	.	.	.	.	.	.	.	C	39	7.766863	0.98477	.	.	ENSG00000237649	ENST00000428849	.	.	.	4.58	4.58	0.56647	.	0.286088	0.31381	N	0.007748	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-30.4818	12.7497	0.57302	0.0:1.0:0.0:0.0	.	.	.	.	X	669	.	ENSP00000393963:Q669X	Q	+	1	0	KIFC1	33485428	0.701000	0.27806	1.000000	0.80357	0.363000	0.29612	2.149000	0.42244	2.380000	0.81148	0.563000	0.77884	CAG		0.483	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	NM_002263		39	259	0	0	0	1	0	39	259				
FBXL4	26235	broad.mit.edu	37	6	99323344	99323344	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr6:99323344T>G	ENST00000369244.2	-	9	2077	c.1649A>C	c.(1648-1650)gAc>gCc	p.D550A	FBXL4_ENST00000229971.1_Missense_Mutation_p.D550A	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	550					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)		p.D550A(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		TTCATCAATGTCTGTGTCACA	0.413																																						ENST00000369244.2																			1	Substitution - Missense(1)	p.D550A(1)	prostate(1)	central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18						c.(1648-1650)gAc>gCc		F-box and leucine-rich repeat protein 4							84.0	82.0	83.0					6																	99323344		2203	4300	6503	SO:0001583	missense	26235				ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex		g.chr6:99323344T>G	AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"""F-boxes / Leucine-rich repeats"""	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.1649A>C	6.37:g.99323344T>G	ENSP00000358247:p.Asp550Ala					FBXL4_ENST00000229971.1_Missense_Mutation_p.D550A	p.D550A			Q9UKA2	FBXL4_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0413)	9	2077	-		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)	550					B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Missense_Mutation	SNP	ENST00000369244.2	37	c.1649A>C	CCDS5041.1	.	.	.	.	.	.	.	.	.	.	T	18.24	3.579981	0.65992	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	T;T	0.02197	4.4;4.4	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.03827	0.0108	L	0.39898	1.24	0.80722	D	1	D;B	0.89917	1.0;0.13	D;B	0.83275	0.996;0.033	T	0.64786	-0.6325	10	0.18710	T	0.47	.	16.2736	0.82632	0.0:0.0:0.0:1.0	.	550;550	B2R7Q5;Q9UKA2	.;FBXL4_HUMAN	A	550	ENSP00000358247:D550A;ENSP00000229971:D550A	ENSP00000229971:D550A	D	-	2	0	FBXL4	99430065	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.698000	0.84413	2.247000	0.74100	0.477000	0.44152	GAC		0.413	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041587.2			46	121	0	0	0	1	0	46	121				
SOWAHB	345079	broad.mit.edu	37	4	77818329	77818329	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr4:77818329G>A	ENST00000334306.2	-	1	673	c.674C>T	c.(673-675)cCg>cTg	p.P225L		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	225	Ala-rich.							p.P225L(1)									AGCCCGTGCCGGCTTCTCCTC	0.706																																						ENST00000334306.2																			1	Substitution - Missense(1)	p.P225L(1)	prostate(1)								c.(673-675)cCg>cTg		sosondowah ankyrin repeat domain family member B							5.0	6.0	6.0					4																	77818329		2067	4094	6161	SO:0001583	missense	345079							g.chr4:77818329G>A		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"""Ankyrin repeat domain containing"""	32958	protein-coding gene	gene with protein product			"""ankyrin repeat domain 56"""	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.674C>T	4.37:g.77818329G>A	ENSP00000334879:p.Pro225Leu						p.P225L	NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN			1	673	-			225			Ala-rich.		B2RP29	Missense_Mutation	SNP	ENST00000334306.2	37	c.674C>T	CCDS34017.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.325432	0.41197	.	.	ENSG00000186212	ENST00000334306	T	0.06768	3.26	3.84	-2.66	0.06077	.	1.675100	0.04281	N	0.343802	T	0.05273	0.0140	N	0.19112	0.55	0.09310	N	1	B	0.18610	0.029	B	0.08055	0.003	T	0.40924	-0.9537	10	0.38643	T	0.18	-1.8419	3.9791	0.09487	0.4256:0.0:0.3132:0.2612	.	225	A6NEL2	ANR56_HUMAN	L	225	ENSP00000334879:P225L	ENSP00000334879:P225L	P	-	2	0	ANKRD56	78037353	0.000000	0.05858	0.032000	0.17829	0.137000	0.21094	-0.250000	0.08830	-0.250000	0.09555	0.561000	0.74099	CCG		0.706	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		4	9	0	0	0	1	0	4	9				
KIF18A	81930	broad.mit.edu	37	11	28058051	28058051	+	Silent	SNP	A	A	G			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr11:28058051A>G	ENST00000263181.6	-	14	2399	c.2109T>C	c.(2107-2109)atT>atC	p.I703I		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	703					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)	p.I703I(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						GTGTATATACAATAGGCTGAA	0.383																																						ENST00000263181.6																			1	Substitution - coding silent(1)	p.I703I(1)	prostate(1)	breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						c.(2107-2109)atT>atC		kinesin family member 18A							97.0	99.0	99.0					11																	28058051		2202	4298	6500	SO:0001819	synonymous_variant	81930				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding	g.chr11:28058051A>G	AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.2109T>C	11.37:g.28058051A>G							p.I703I	NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN			14	2399	-			703					Q4VPE3|Q86VS5|Q9H0F3	Silent	SNP	ENST00000263181.6	37	c.2109T>C	CCDS7867.1																																																																																				0.383	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217		48	191	0	0	0	1	0	48	191				
AKAP8L	26993	broad.mit.edu	37	19	15512380	15512380	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr19:15512380C>T	ENST00000397410.5	-	5	527	c.397G>A	c.(397-399)Gtc>Atc	p.V133I	AKAP8L_ENST00000595465.2_Missense_Mutation_p.V72I|AKAP8L_ENST00000595879.1_5'Flank	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	133						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.V133I(2)		central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TCACTCAGGACGGCCCTCGAG	0.592																																						ENST00000397410.4																			2	Substitution - Missense(2)	p.V133I(2)	prostate(2)	central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(397-399)Gtc>Atc		A kinase (PRKA) anchor protein 8-like							39.0	38.0	38.0					19																	15512380		2129	4227	6356	SO:0001583	missense	26993					cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	g.chr19:15512380C>T	BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.397G>A	19.37:g.15512380C>T	ENSP00000380557:p.Val133Ile					AKAP8L_ENST00000595136.1_Intron|AKAP8L_ENST00000595465.1_Missense_Mutation_p.V72I	p.V133I	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN			5	461	-			133					B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	ENST00000397410.5	37	c.397G>A	CCDS46005.1	.	.	.	.	.	.	.	.	.	.	C	6.217	0.408130	0.11754	.	.	ENSG00000011243	ENST00000397410	T	0.42900	0.96	4.72	0.00345	0.14055	.	0.846657	0.10204	N	0.702987	T	0.17959	0.0431	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.002;0.0	T	0.24764	-1.0151	10	0.18710	T	0.47	-5.4284	3.676	0.08292	0.1692:0.4035:0.0:0.4273	.	72;133;133	B4DJ74;B3KMD4;Q9ULX6	.;.;AKP8L_HUMAN	I	133	ENSP00000380557:V133I	ENSP00000380557:V133I	V	-	1	0	AKAP8L	15373380	0.190000	0.23276	0.445000	0.26908	0.388000	0.30384	0.018000	0.13422	-0.178000	0.10672	0.655000	0.94253	GTC		0.592	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	NM_014371		5	23	0	0	0	1	0	5	23				
DNAH1	25981	broad.mit.edu	37	3	52366398	52366398	+	Missense_Mutation	SNP	G	G	A	rs200951874		TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr3:52366398G>A	ENST00000420323.2	+	8	1535	c.1274G>A	c.(1273-1275)cGc>cAc	p.R425H		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	425	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R425H(2)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCTCGGATGCGCAAAGGCCCC	0.582																																						ENST00000420323.2																			2	Substitution - Missense(2)	p.R425H(2)	prostate(2)	cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(1273-1275)cGc>cAc		dynein, axonemal, heavy chain 1		G	HIS/ARG	0,4112		0,0,2056	52.0	56.0	55.0		1274	3.8	1.0	3		55	5,8377		0,5,4186	no	missense	DNAH1	NM_015512.4	29	0,5,6242	AA,AG,GG		0.0597,0.0,0.04	benign	425/4266	52366398	5,12489	2056	4191	6247	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52366398G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.1274G>A	3.37:g.52366398G>A	ENSP00000401514:p.Arg425His						p.R425H	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	8	1535	+			425			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.1274G>A	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.040790	0.35989	0.0	5.97E-4	ENSG00000114841	ENST00000420323	T	0.24350	1.86	5.57	3.78	0.43462	.	0.146336	0.31301	N	0.007892	T	0.22781	0.0550	M	0.61703	1.905	0.34249	D	0.678509	B;B	0.10296	0.003;0.001	B;B	0.08055	0.003;0.003	T	0.21759	-1.0236	10	0.15066	T	0.55	.	8.9834	0.35979	0.2258:0.0:0.7742:0.0	.	425;425	C9JXH6;Q9P2D7-3	.;.	H	425	ENSP00000401514:R425H	ENSP00000401514:R425H	R	+	2	0	DNAH1	52341438	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	1.129000	0.31381	1.376000	0.46267	-0.448000	0.05591	CGC		0.582	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		5	98	0	0	0	1	0	5	98				
XIST	7503	broad.mit.edu	37	X	73061256	73061256	+	lincRNA	SNP	C	C	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chrX:73061256C>T	ENST00000429829.1	-	0	11332					NR_001564.2				X inactive specific transcript (non-protein coding)																		TACAGCTGTCCGAGGAGCTAG	0.393																																						ENST00000429829.1																			0																				47.0	48.0	48.0					X																	73061256		876	1991	2867			0							g.chrX:73061256C>T	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73061256C>T								NR_001564.2						0	11332	-									RNA	SNP	ENST00000429829.1	37																																																																																						0.393	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		26	21	0	0	0	1	0	26	21				
DOK2	9046	broad.mit.edu	37	8	21768190	21768190	+	Silent	SNP	C	C	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr8:21768190C>T	ENST00000276420.4	-	4	870	c.612G>A	c.(610-612)cgG>cgA	p.R204R	DOK2_ENST00000544659.1_Silent_p.R50R	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	204	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|leukocyte migration (GO:0050900)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	receptor signaling protein activity (GO:0005057)	p.R204R(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TCACCTTGTCCCGCCCAAAGC	0.632																																						ENST00000276420.4																			1	Substitution - coding silent(1)	p.R204R(1)	prostate(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26						c.(610-612)cgG>cgA		docking protein 2, 56kDa							43.0	40.0	41.0					8																	21768190		2203	4300	6503	SO:0001819	synonymous_variant	9046				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding	g.chr8:21768190C>T	AF034970	CCDS6016.1	8p21.3	2008-08-07	2002-08-29		ENSG00000147443	ENSG00000147443			2991	protein-coding gene	gene with protein product		604997	"""docking protein 2, 56kD"""			9478921, 14645010	Standard	NM_003974		Approved	p56dok-2, Dok-2	uc003wzy.1	O60496	OTTHUMG00000131075	ENST00000276420.4:c.612G>A	8.37:g.21768190C>T						DOK2_ENST00000544659.1_Silent_p.R50R	p.R204R	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN		Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)	4	870	-			204			IRS-type PTB.		Q8N5A4	Silent	SNP	ENST00000276420.4	37	c.612G>A	CCDS6016.1																																																																																				0.632	DOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253735.3	NM_003974		15	23	0	0	0	1	0	15	23				
KLHL18	23276	broad.mit.edu	37	3	47361170	47361170	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr3:47361170C>T	ENST00000232766.5	+	2	177	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W	KLHL18_ENST00000455924.2_Intron	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	53								p.R53W(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		CAGTGCCCACCGGATTGTCTT	0.418																																						ENST00000232766.5																			1	Substitution - Missense(1)	p.R53W(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21						c.(157-159)Cgg>Tgg		kelch-like family member 18							183.0	165.0	171.0					3																	47361170		2203	4300	6503	SO:0001583	missense	23276							g.chr3:47361170C>T	AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"""Kelch-like"", ""BTB/POZ domain containing"""	29120	protein-coding gene	gene with protein product			"""kelch-like 18 (Drosophila)"""			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	ENST00000232766.5:c.157C>T	3.37:g.47361170C>T	ENSP00000232766:p.Arg53Trp					KLHL18_ENST00000455924.2_Intron	p.R53W	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)	2	177	+		Acute lymphoblastic leukemia(5;0.164)	53					A8K612|Q7Z3E8|Q8N125	Missense_Mutation	SNP	ENST00000232766.5	37	c.157C>T	CCDS33749.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490564	0.84962	.	.	ENSG00000114648	ENST00000232766;ENST00000437353	T;T	0.75477	-0.94;-0.94	5.81	4.86	0.63082	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.91962	0.7454	H	0.98951	4.38	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94800	0.7970	10	0.87932	D	0	.	16.7526	0.85490	0.1376:0.8624:0.0:0.0	.	53	O94889	KLH18_HUMAN	W	53	ENSP00000232766:R53W;ENSP00000411839:R53W	ENSP00000232766:R53W	R	+	1	2	KLHL18	47336174	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.973000	0.49264	2.757000	0.94681	0.650000	0.86243	CGG		0.418	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344493.1	NM_025010		60	170	0	0	0	1	0	60	170				
BBS9	27241	broad.mit.edu	37	7	33573723	33573723	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr7:33573723T>C	ENST00000242067.6	+	21	2977	c.2456T>C	c.(2455-2457)tTa>tCa	p.L819S	BBS9_ENST00000350941.3_Missense_Mutation_p.L779S|BBS9_ENST00000354265.4_Missense_Mutation_p.L784S|BBS9_ENST00000396127.2_Missense_Mutation_p.L784S|BBS9_ENST00000355070.2_Missense_Mutation_p.L814S	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	819					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.L819S(2)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TGCGATAGATTATCCAAAGGT	0.493									Bardet-Biedl syndrome																													ENST00000242067.6																		BBS9/PKD1L1(2)	2	Substitution - Missense(2)	p.L819S(2)	prostate(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50						c.(2455-2457)tTa>tCa		Bardet-Biedl syndrome 9							129.0	96.0	107.0					7																	33573723		2203	4300	6503	SO:0001583	missense	27241	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33573723T>C		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.2456T>C	7.37:g.33573723T>C	ENSP00000242067:p.Leu819Ser					BBS9_ENST00000354265.4_Missense_Mutation_p.L784S|BBS9_ENST00000350941.3_Missense_Mutation_p.L779S|BBS9_ENST00000355070.2_Missense_Mutation_p.L814S|BBS9_ENST00000396127.2_Missense_Mutation_p.L784S	p.L819S	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		21	2977	+			819					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	c.2456T>C	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	T	18.52	3.641140	0.67244	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132	T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36	5.93	5.93	0.95920	.	0.094648	0.38837	N	0.001560	T	0.40743	0.1129	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D	0.76494	0.997;0.997;0.999;0.997;0.997	D;D;D;D;D	0.72625	0.964;0.964;0.978;0.964;0.964	T	0.18461	-1.0336	10	0.87932	D	0	-9.3176	16.3943	0.83563	0.0:0.0:0.0:1.0	.	819;779;814;784;819	Q3SYG4-3;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;.;PTHB1_HUMAN	S	819;779;784;814;784;819	ENSP00000242067:L819S;ENSP00000313122:L779S;ENSP00000379433:L784S;ENSP00000347182:L814S;ENSP00000346214:L784S	ENSP00000242067:L819S	L	+	2	0	BBS9	33540248	0.962000	0.33011	0.015000	0.15790	0.725000	0.41563	7.481000	0.81124	2.281000	0.76405	0.533000	0.62120	TTA		0.493	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			45	86	0	0	0	1	0	45	86				
TRPC6	7225	broad.mit.edu	37	11	101374961	101374961	+	Missense_Mutation	SNP	G	G	A	rs201859973		TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr11:101374961G>A	ENST00000344327.3	-	2	1163	c.739C>T	c.(739-741)Cgg>Tgg	p.R247W	TRPC6_ENST00000532133.1_Missense_Mutation_p.R247W|TRPC6_ENST00000348423.4_Missense_Mutation_p.R247W|TRPC6_ENST00000526713.1_5'Flank|TRPC6_ENST00000360497.4_Missense_Mutation_p.R247W	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	247					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.R247W(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TCATGAGGCCGTTCAATCCTA	0.478																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3																			1	Substitution - Missense(1)	p.R247W(1)	prostate(1)	autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(739-741)Cgg>Tgg		transient receptor potential cation channel, subfamily C, member 6							124.0	110.0	115.0					11																	101374961		2203	4299	6502	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101374961G>A	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.739C>T	11.37:g.101374961G>A	ENSP00000340913:p.Arg247Trp					TRPC6_ENST00000360497.4_Missense_Mutation_p.R247W|TRPC6_ENST00000348423.4_Missense_Mutation_p.R247W|TRPC6_ENST00000532133.1_Missense_Mutation_p.R247W	p.R247W	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	2	1163	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	247					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.739C>T	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412870	0.62511	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	5.84	3.77	0.43336	Ankyrin repeat-containing domain (3);	0.159187	0.56097	D	0.000039	T	0.79851	0.4517	L	0.58428	1.81	0.51767	D	0.999938	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.81914	0.931;0.995;0.855	T	0.80865	-0.1191	10	0.56958	D	0.05	-14.4187	12.4259	0.55546	0.0:0.0:0.3802:0.6198	.	247;247;247	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	W	247	ENSP00000340913:R247W;ENSP00000435574:R247W;ENSP00000343672:R247W;ENSP00000353687:R247W	ENSP00000340913:R247W	R	-	1	2	TRPC6	100880171	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.294000	0.43567	1.407000	0.46875	0.650000	0.86243	CGG		0.478	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		79	180	0	0	0	1	0	79	180				
TRIM33	51592	broad.mit.edu	37	1	115005788	115005788	+	Silent	SNP	G	G	A			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr1:115005788G>A	ENST00000358465.2	-	4	944	c.861C>T	c.(859-861)ttC>ttT	p.F287F	TRIM33_ENST00000369543.2_Silent_p.F287F|TRIM33_ENST00000450349.2_5'UTR	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	287					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F287F(2)		breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGTTTCACAGAAAAGTTTCA	0.353			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		2	Substitution - coding silent(2)	p.F287F(2)	prostate(2)	breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(859-861)ttC>ttT		tripartite motif containing 33							84.0	77.0	79.0					1																	115005788		2203	4300	6503	SO:0001819	synonymous_variant	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:115005788G>A	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.861C>T	1.37:g.115005788G>A						TRIM33_ENST00000450349.2_5'UTR|TRIM33_ENST00000369543.2_Silent_p.F287F	p.F287F	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	944	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	287					O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Silent	SNP	ENST00000358465.2	37	c.861C>T	CCDS872.1	.	.	.	.	.	.	.	.	.	.	G	9.938	1.216737	0.22373	.	.	ENSG00000197323	ENST00000448034	.	.	.	5.67	2.75	0.32379	.	.	.	.	.	T	0.41073	0.1143	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30297	-0.9983	4	.	.	.	-4.393	6.9233	0.24401	0.2018:0.1247:0.6735:0.0	.	.	.	.	F	24	.	.	S	-	2	0	TRIM33	114807311	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.113000	0.57851	0.738000	0.32606	0.655000	0.94253	TCT		0.353	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		5	74	0	0	0	1	0	5	74				
ETV3	2117	broad.mit.edu	37	1	157104016	157104017	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr1:157104016_157104017insT	ENST00000368192.4	-	4	351_352	c.287_288insA	c.(286-288)tacfs	p.Y96fs	ETV3_ENST00000326786.4_Frame_Shift_Ins_p.Y96fs|ETV3_ENST00000460850.1_5'Flank	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	96					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				TGTTGTAATAGTATCTGTAAAA	0.371																																						ENST00000368192.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9						c.(286-288)ttafs		ets variant 3																																				SO:0001589	frameshift_variant	2117						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157104016_157104017insT	BC022868	CCDS1164.1, CCDS44250.1	1q21-q23	2008-09-12	2008-09-12		ENSG00000117036	ENSG00000117036			3492	protein-coding gene	gene with protein product		164873	"""ets variant gene 3, ETS family transcriptional repressor"", ""ets variant gene 3"""			8020980	Standard	NM_005240		Approved	PE-1	uc001fqr.2	P41162	OTTHUMG00000034298	ENST00000368192.4:c.288dupA	1.37:g.157104017_157104017dupT	ENSP00000357175:p.Tyr96fs					ETV3_ENST00000326786.4_Frame_Shift_Ins_p.L96fs	p.L96fs	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN			4	351_352	-	Hepatocellular(266;0.158)	Prostate(1639;0.174)	96					B4E3M7|Q8TAC8|Q9BX30	Frame_Shift_Ins	INS	ENST00000368192.4	37	c.287_288insA	CCDS44250.1																																																																																				0.371	ETV3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082843.2	NM_005240		46	39						46	39	---	---	---	---
DHFR	1719	broad.mit.edu	37	5	79945228	79945232	+	Frame_Shift_Del	DEL	TAAAT	TAAAT	-			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr5:79945228_79945232delTAAAT	ENST00000439211.2	-	3	711_715	c.218_222delATTTA	c.(217-222)aatttafs	p.NL73fs	DHFR_ENST00000505337.1_Frame_Shift_Del_p.NL73fs|DHFR_ENST00000504396.1_Frame_Shift_Del_p.NL21fs|DHFR_ENST00000511032.1_Frame_Shift_Del_p.NL73fs|DHFR_ENST00000513048.1_5'UTR	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	73	DHFR. {ECO:0000255|PROSITE- ProRule:PRU00660}.				folic acid metabolic process (GO:0046655)|G1/S transition of mitotic cell cycle (GO:0000082)|glycine biosynthetic process (GO:0006545)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to methotrexate (GO:0031427)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	dihydrofolate reductase activity (GO:0004146)|drug binding (GO:0008144)|mRNA binding (GO:0003729)|NADP binding (GO:0050661)			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	TGCTGAGAACTAAATTAATTCTACC	0.332																																						ENST00000439211.2																			0				kidney(1)|large_intestine(1)	2						c.(217-222)afs		dihydrofolate reductase	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)																																			SO:0001589	frameshift_variant	1719				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding	g.chr5:79945228_79945232delTAAAT		CCDS47240.1	5q11.2-q13.2	2012-10-02			ENSG00000228716	ENSG00000228716	1.5.1.3		2861	protein-coding gene	gene with protein product		126060					Standard	XM_005248455		Approved		uc003kgy.1	P00374	OTTHUMG00000162529	ENST00000439211.2:c.218_222delATTTA	5.37:g.79945228_79945232delTAAAT	ENSP00000396308:p.Asn73fs					DHFR_ENST00000511032.1_Frame_Shift_Del_p.NL73fs|DHFR_ENST00000504396.1_Frame_Shift_Del_p.NL21fs|DHFR_ENST00000513048.1_5'UTR|DHFR_ENST00000505337.1_Frame_Shift_Del_p.NL73fs	p.NL73fs	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	3	711_715	-		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)	73			DHFR.		B4DDD2|Q14130|Q6IRW8	Frame_Shift_Del	DEL	ENST00000439211.2	37	c.218_222delATTTA	CCDS47240.1																																																																																				0.332	DHFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369450.1	NM_000791		23	74						23	74	---	---	---	---
GTF2IRD2P1	401375	broad.mit.edu	37	7	72662349	72662350	+	RNA	DEL	AA	AA	-	rs533047423	byFrequency	TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr7:72662349_72662350delAA	ENST00000425256.1	-	0	1007									GTF2I repeat domain containing 2 pseudogene 1																		ctctgtctccaaaaaaaaaaaa	0.475																																						ENST00000425256.1																			0																																																			0							g.chr7:72662349_72662350delAA	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72662359_72662360delAA								NR_002164.1						0	1007	-									RNA	DEL	ENST00000425256.1	37																																																																																						0.475	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		4	9						4	9	---	---	---	---
LOC102724710	102724710	broad.mit.edu	37	8	93591561	93591562	+	lincRNA	INS	-	-	TTTC	rs199843148|rs555738536	byFrequency	TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr8:93591561_93591562insTTTC	ENST00000523284.1	-	0	395																											ctttctttctttttctttcttt	0.312														3241	0.647165	0.5847	0.7911	5008	,	,		16706	0.4613		0.8469	False		,,,				2504	0.6155					ENST00000523284.1																			0																																																			0							g.chr8:93591561_93591562insTTTC																													8.37:g.93591566_93591569dupTTTC														0	395	-									RNA	INS	ENST00000523284.1	37																																																																																						0.312	RP11-587H10.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000377512.1			3	5						3	5	---	---	---	---
NOL8	55035	broad.mit.edu	37	9	95069196	95069199	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr9:95069196_95069199delTGTT	ENST00000535387.1	-	9	2679_2682	c.2680_2683delAACA	c.(2680-2685)aacagafs	p.NR894fs	NOL8_ENST00000442668.2_Frame_Shift_Del_p.NR932fs|NOL8_ENST00000358855.4_Frame_Shift_Del_p.NR864fs|NOL8_ENST00000542053.1_Frame_Shift_Del_p.NR864fs|NOL8_ENST00000545558.1_Frame_Shift_Del_p.NR932fs					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						ACTGATCCTCTGTTTGTAGAATTG	0.338																																						ENST00000545558.1																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						c.(2794-2799)gafs		nucleolar protein 8																																				SO:0001589	frameshift_variant	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95069196_95069199delTGTT	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.2680_2683delAACA	9.37:g.95069196_95069199delTGTT	ENSP00000441300:p.Asn894fs					NOL8_ENST00000535387.1_Frame_Shift_Del_p.NR894fs|NOL8_ENST00000358855.4_Frame_Shift_Del_p.NR864fs|NOL8_ENST00000542053.1_Frame_Shift_Del_p.NR864fs|NOL8_ENST00000442668.2_Frame_Shift_Del_p.NR932fs	p.NR932fs			Q76FK4	NOL8_HUMAN			11	3286_3289	-			932						Frame_Shift_Del	DEL	ENST00000535387.1	37	c.2794_2797delAACA	CCDS47993.1																																																																																				0.338	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		7	281						7	281	---	---	---	---
NLRP1	22861	broad.mit.edu	37	17	5462267	5462268	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr17:5462267_5462268insT	ENST00000572272.1	-	4	1747_1748	c.1748_1749insA	c.(1747-1749)aagfs	p.K583fs	NLRP1_ENST00000345221.3_Frame_Shift_Ins_p.K583fs|NLRP1_ENST00000354411.3_Frame_Shift_Ins_p.K583fs|NLRP1_ENST00000577119.1_Frame_Shift_Ins_p.K583fs|NLRP1_ENST00000262467.5_Frame_Shift_Ins_p.K583fs|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Frame_Shift_Ins_p.K583fs			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	583	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TGAAAAGGGTCTTTTTTTGCCA	0.535																																						ENST00000345221.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1747-1749)aacfs		NLR family, pyrin domain containing 1																																				SO:0001589	frameshift_variant	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5462267_5462268insT	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.1749dupA	17.37:g.5462274_5462274dupT	ENSP00000460475:p.Lys583fs					NLRP1_ENST00000577119.1_Frame_Shift_Ins_p.N583fs|NLRP1_ENST00000572272.1_Frame_Shift_Ins_p.N583fs|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Frame_Shift_Ins_p.N583fs|NLRP1_ENST00000269280.4_Frame_Shift_Ins_p.N583fs|NLRP1_ENST00000262467.5_Frame_Shift_Ins_p.N583fs	p.N583fs	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN			4	2302_2303	-		Colorectal(1115;3.48e-05)	583			NACHT.		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Frame_Shift_Ins	INS	ENST00000572272.1	37	c.1748_1749insA	CCDS42246.1																																																																																				0.535	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		7	101						7	101	---	---	---	---
