#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
FAM86DP	692099	broad.mit.edu	37	3	75475670	75475670	+	RNA	SNP	A	A	C	rs7430363	byFrequency	TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr3:75475670A>C	ENST00000459803.1	-	0	859					NR_024241.1				family with sequence similarity 86, member D, pseudogene																		ACCTCAGGAGACTGCTGGTGC	0.627													.|||	2317	0.46266	0.7315	0.4092	5008	,	,		13562	0.4812		0.2555	False		,,,				2504	0.3313					ENST00000459803.1																			0																																																			0							g.chr3:75475670A>C	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75475670A>C								NR_024241.1						0	859	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.627	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		3	33	0	0	0	1	0	3	33				
CROCCP2	84809	broad.mit.edu	37	1	16959603	16959603	+	lincRNA	SNP	G	G	A			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr1:16959603G>A	ENST00000412962.1	-	0	74							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CTGCAGTGACGCCTGCCTCAT	0.602																																						ENST00000412962.1																			0																																																			0							g.chr1:16959603G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16959603G>A														0	74	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.602	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	30	0	0	0	1	0	3	30				
GPR75	10936	broad.mit.edu	37	2	54081132	54081132	+	Silent	SNP	C	C	T			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr2:54081132C>T	ENST00000394705.2	-	2	1032	c.762G>A	c.(760-762)ggG>ggA	p.G254G	ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000406625.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	254					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCACAGGGACCCCCATGAAAG	0.537																																						ENST00000394705.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(760-762)ggG>ggA		G protein-coupled receptor 75							88.0	89.0	88.0					2																	54081132		2203	4300	6503	SO:0001819	synonymous_variant	10936					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:54081132C>T	AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"""GPCR / Class A : Orphans"""	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280	ENST00000394705.2:c.762G>A	2.37:g.54081132C>T						ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	p.G254G	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		2	1032	-			254					B2RC02|Q6NWR2	Silent	SNP	ENST00000394705.2	37	c.762G>A	CCDS1849.1																																																																																				0.537	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251403.2			18	38	0	0	0	1	0	18	38				
OSCP1	127700	broad.mit.edu	37	1	36898067	36898067	+	Missense_Mutation	SNP	T	T	C	rs34409118	byFrequency	TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr1:36898067T>C	ENST00000356637.5	-	4	484	c.421A>G	c.(421-423)Acc>Gcc	p.T141A	OSCP1_ENST00000354267.3_Missense_Mutation_p.T131A|OSCP1_ENST00000235532.5_Missense_Mutation_p.T131A|OSCP1_ENST00000433045.2_Missense_Mutation_p.T86A|OSCP1_ENST00000315643.9_Missense_Mutation_p.T141A			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	141			T -> A (in dbSNP:rs34409118). {ECO:0000269|PubMed:16006562}.		transport (GO:0006810)	plasma membrane (GO:0005886)		p.T141A(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						TGCAGGATGGTTGGGGAGTCT	0.502													T|||	1042	0.208067	0.1604	0.1369	5008	,	,		21091	0.2599		0.2048	False		,,,				2504	0.273					ENST00000356637.5																			2	Substitution - Missense(2)	p.T141A(2)	stomach(1)|pancreas(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						c.(421-423)Acc>Gcc		organic solute carrier partner 1		T	ALA/THR,ALA/THR	794,3612	317.4+/-295.1	67,660,1476	128.0	113.0	118.0		391,391	-1.4	1.0	1	dbSNP_126	118	1836,6764	329.8+/-318.9	202,1432,2666	yes	missense,missense	OSCP1	NM_145047.4,NM_206837.2	58,58	269,2092,4142	CC,CT,TT		21.3488,18.0209,20.2214	benign,benign	131/380,131/224	36898067	2630,10376	2203	4300	6503	SO:0001583	missense	127700				transport	basal plasma membrane		g.chr1:36898067T>C		CCDS409.1, CCDS410.1, CCDS409.2	1p34.3	2009-07-06	2009-07-06	2009-07-06	ENSG00000116885	ENSG00000116885			29971	protein-coding gene	gene with protein product	"""oxidored nitro domain containing protein"""	608854	"""chromosome 1 open reading frame 102"""	C1orf102		12477932	Standard	NM_145047		Approved	NOR1	uc001caq.3	Q8WVF1	OTTHUMG00000008139	ENST00000356637.5:c.421A>G	1.37:g.36898067T>C	ENSP00000349052:p.Thr141Ala					OSCP1_ENST00000354267.3_Missense_Mutation_p.T131A|OSCP1_ENST00000433045.2_Missense_Mutation_p.T86A|OSCP1_ENST00000315643.9_Missense_Mutation_p.T141A|OSCP1_ENST00000235532.5_Missense_Mutation_p.T131A	p.T141A			Q8WVF1	OSCP1_HUMAN			4	484	-			141		T -> A (in dbSNP:rs34409118).			A6NHM5|A6NHS9|A6NIN9|Q4AEJ0|Q8N7G2|Q8TDF1	Missense_Mutation	SNP	ENST00000356637.5	37	c.421A>G		420	0.19230769230769232	65	0.13211382113821138	58	0.16022099447513813	144	0.2517482517482518	153	0.20184696569920843	T	1.622	-0.521352	0.04171	0.180209	0.213488	ENSG00000116885	ENST00000235532;ENST00000356637;ENST00000433045;ENST00000445843;ENST00000315643;ENST00000354267	T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64	5.6	-1.39	0.08997	.	0.615809	0.16766	N	0.200427	T	0.00012	0.0000	N	0.01228	-0.945	0.45914	P	0.0012499999999999734	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.37619	-0.9698	9	0.05620	T	0.96	.	7.0272	0.24946	0.0:0.3174:0.1172:0.5655	rs34409118	131;131;141	Q8WVF1-4;Q8WVF1-3;Q8WVF1	.;.;OSCP1_HUMAN	A	131;141;86;101;141;131	ENSP00000235532:T131A;ENSP00000349052:T141A;ENSP00000390820:T86A;ENSP00000396417:T101A;ENSP00000314541:T141A;ENSP00000346216:T131A	ENSP00000235532:T131A	T	-	1	0	OSCP1	36670654	0.980000	0.34600	0.993000	0.49108	0.462000	0.32619	0.340000	0.19892	-0.153000	0.11137	0.533000	0.62120	ACC		0.502	OSCP1-010	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000389759.1	NM_145047		6	97	0	0	0	1	0	6	97				
C9orf47	286223	broad.mit.edu	37	9	91606052	91606052	+	Missense_Mutation	SNP	C	C	G			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr9:91606052C>G	ENST00000334490.5	+	1	210	c.142C>G	c.(142-144)Ctc>Gtc	p.L48V	S1PR3_ENST00000358157.2_5'Flank|C9orf47_ENST00000375850.3_Missense_Mutation_p.L48V|C9orf47_ENST00000375851.2_Missense_Mutation_p.L48V			Q6ZRZ4	CI047_HUMAN	chromosome 9 open reading frame 47	48						extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|liver(1)|lung(1)	4						CCCGCTGGGTCTCTGGGCGCC	0.672																																						ENST00000375851.2																			0				endometrium(1)|large_intestine(1)|liver(1)|lung(1)	4						c.(142-144)Ctc>Gtc		chromosome 9 open reading frame 47							14.0	17.0	16.0					9																	91606052		2202	4299	6501	SO:0001583	missense	286223					extracellular region		g.chr9:91606052C>G	AK094842	CCDS35062.1, CCDS47989.1	9q22.1	2008-02-05	2004-11-04		ENSG00000186354	ENSG00000186354			23669	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 108"""	C9orf108			Standard	NM_001001938		Approved	FLJ37523, bA791O21.3	uc004aqc.2	Q6ZRZ4	OTTHUMG00000020172	ENST00000334490.5:c.142C>G	9.37:g.91606052C>G	ENSP00000335616:p.Leu48Val					C9orf47_ENST00000375850.3_Missense_Mutation_p.L48V|C9orf47_ENST00000334490.5_Missense_Mutation_p.L48V	p.L48V	NM_001001938.3|NM_001142413.1	NP_001001938.1|NP_001135885.1	Q6ZRZ4	CI047_HUMAN			1	275	+			48					B7ZMC7|Q5SQD7|Q7Z568|Q8N1V4	Missense_Mutation	SNP	ENST00000334490.5	37	c.142C>G	CCDS35062.1	.	.	.	.	.	.	.	.	.	.	C	9.805	1.181505	0.21787	.	.	ENSG00000186354	ENST00000375851;ENST00000375850;ENST00000334490	.	.	.	2.48	-0.716	0.11212	.	.	.	.	.	T	0.16214	0.0390	N	0.08118	0	0.09310	N	1	B;B	0.25351	0.124;0.124	B;B	0.24155	0.051;0.051	T	0.21280	-1.0250	8	0.87932	D	0	.	3.3368	0.07103	0.0:0.5068:0.2191:0.2742	.	48;48	Q6ZRZ4;Q6ZRZ4-2	CI047_HUMAN;.	V	48	.	ENSP00000335616:L48V	L	+	1	0	C9orf47	90795872	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.079000	0.11357	-0.153000	0.11137	0.486000	0.48141	CTC		0.672	C9orf47-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355972.1	NM_182599		5	10	0	0	0	1	0	5	10				
CROCCP2	84809	broad.mit.edu	37	1	16946434	16946434	+	lincRNA	SNP	C	C	T	rs367060	byFrequency	TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr1:16946434C>T	ENST00000412962.1	-	0	1085				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CTCAGCCTTCCGCCGGGCCAG	0.672													.|||	253	0.0505192	0.115	0.0533	5008	,	,		65734	0.0119		0.0437	False		,,,				2504	0.0082					ENST00000412962.1																			0																																																			0							g.chr1:16946434C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946434C>T														0	1085	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		6	31	0	0	0	1	0	6	31				
KCNIP1	30820	broad.mit.edu	37	5	170148874	170148874	+	Missense_Mutation	SNP	C	C	A			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr5:170148874C>A	ENST00000411494.1	+	5	327	c.327C>A	c.(325-327)ttC>ttA	p.F109L	KCNIP1_ENST00000328939.4_Missense_Mutation_p.F98L|KCNIP1_ENST00000390656.4_Missense_Mutation_p.F98L|KCNIP1_ENST00000434108.1_Missense_Mutation_p.F123L|KCNIP1_ENST00000520740.1_Missense_Mutation_p.F70L|KCNIP1_ENST00000377360.4_Missense_Mutation_p.F107L			Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	109	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				detection of calcium ion (GO:0005513)|positive regulation of action potential (GO:0045760)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|potassium channel complex (GO:0034705)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|voltage-gated ion channel activity (GO:0005244)	p.F109F(1)		autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCAATGCCTTCGACACCACTC	0.547																																						ENST00000328939.4																			1	Substitution - coding silent(1)	p.F109F(1)	large_intestine(1)	autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18						c.(292-294)ttC>ttA		Kv channel interacting protein 1							243.0	214.0	224.0					5																	170148874		2203	4300	6503	SO:0001583	missense	0				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr5:170148874C>A	AF199597	CCDS34285.1, CCDS34286.1, CCDS4374.1, CCDS64312.1, CCDS64313.1	5q35	2013-01-10			ENSG00000182132	ENSG00000182132		"""EF-hand domain containing"""	15521	protein-coding gene	gene with protein product		604660				10676964	Standard	NM_001278339		Approved	KCHIP1	uc003map.3	Q9NZI2	OTTHUMG00000130442	ENST00000411494.1:c.327C>A	5.37:g.170148874C>A	ENSP00000395323:p.Phe109Leu					KCNIP1_ENST00000390656.4_Missense_Mutation_p.F98L|KCNIP1_ENST00000411494.1_Missense_Mutation_p.F109L|KCNIP1_ENST00000520740.1_Missense_Mutation_p.F70L|KCNIP1_ENST00000377360.4_Missense_Mutation_p.F107L|KCNIP1_ENST00000434108.1_Missense_Mutation_p.F123L	p.F98L	NM_001034837.1|NM_014592.2	NP_001030009.1|NP_055407.1	Q9NZI2	KCIP1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	831	+	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	109			EF-hand 2.		B7Z7B4|Q3YAD0|Q3YAD1|Q3YAD2|Q3YAD3|Q5U822	Missense_Mutation	SNP	ENST00000411494.1	37	c.294C>A	CCDS34286.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.887209	0.72410	.	.	ENSG00000182132	ENST00000377360;ENST00000328939;ENST00000390656;ENST00000520740;ENST00000434108;ENST00000411494	T;T;T;T;T;T	0.80393	0.08;0.08;0.08;0.08;-1.37;0.08	5.5	0.0795	0.14416	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.84611	0.5510	M	0.63208	1.945	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;0.998;0.998	D;D;D;D	0.81914	0.993;0.995;0.913;0.913	T	0.80977	-0.1141	9	.	.	.	.	9.0138	0.36157	0.0:0.4642:0.0:0.5358	.	123;98;109;107	Q3YAD0;Q3YAD2;Q9NZI2;Q3YAD3	.;.;KCIP1_HUMAN;.	L	107;98;98;70;123;109	ENSP00000366577:F107L;ENSP00000329686:F98L;ENSP00000375071:F98L;ENSP00000431102:F70L;ENSP00000414886:F123L;ENSP00000395323:F109L	.	F	+	3	2	KCNIP1	170081452	0.990000	0.36364	0.998000	0.56505	0.993000	0.82548	0.221000	0.17680	0.041000	0.15688	-0.140000	0.14226	TTC		0.547	KCNIP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000371760.1			9	125	1	0	2.62144e-13	1	2.77564e-13	9	125				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		6	50	0	0	0	1	0	6	50				
CACNA1G	8913	broad.mit.edu	37	17	48696019	48696019	+	Missense_Mutation	SNP	A	A	G			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr17:48696019A>G	ENST00000359106.5	+	33	5431	c.5431A>G	c.(5431-5433)Acc>Gcc	p.T1811A	CACNA1G_ENST00000507510.2_Missense_Mutation_p.T1811A|CACNA1G_ENST00000442258.2_Missense_Mutation_p.T1770A|CACNA1G_ENST00000512389.1_Missense_Mutation_p.T1800A|CACNA1G_ENST00000507609.1_Missense_Mutation_p.T1804A|CACNA1G_ENST00000505165.1_Missense_Mutation_p.T1811A|CACNA1G_ENST00000513689.2_Missense_Mutation_p.T1766A|CACNA1G_ENST00000507336.1_Missense_Mutation_p.T1800A|CACNA1G_ENST00000510115.1_Missense_Mutation_p.T1777A|CACNA1G_ENST00000502264.1_Missense_Mutation_p.T1788A|CACNA1G_ENST00000515165.1_Missense_Mutation_p.T1811A|CACNA1G_ENST00000515411.1_Missense_Mutation_p.T1793A|CACNA1G_ENST00000514717.1_Missense_Mutation_p.T1754A|CACNA1G_ENST00000429973.2_Missense_Mutation_p.T1793A|CACNA1G_ENST00000354983.4_Missense_Mutation_p.T1777A|CACNA1G_ENST00000513964.1_Missense_Mutation_p.T1766A|CACNA1G_ENST00000515765.1_Missense_Mutation_p.T1800A|CACNA1G_ENST00000360761.4_Missense_Mutation_p.T1788A|CACNA1G_ENST00000507896.1_Missense_Mutation_p.T1800A|CACNA1G_ENST00000358244.5_Missense_Mutation_p.T1777A|CACNA1G_ENST00000503485.1_Missense_Mutation_p.T1777A|CACNA1G_ENST00000510366.1_Missense_Mutation_p.T1759A|CACNA1G_ENST00000514181.1_Missense_Mutation_p.T1786A|CACNA1G_ENST00000352832.5_Missense_Mutation_p.T1777A|CACNA1G_ENST00000514079.1_Missense_Mutation_p.T1818A	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1811					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TCCCCAGGACACCCTCCGGGA	0.562																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(5329-5331)Acc>Gcc		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						39.0	38.0	38.0					17																	48696019		2074	4194	6268	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48696019A>G	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.5431A>G	17.37:g.48696019A>G	ENSP00000352011:p.Thr1811Ala					CACNA1G_ENST00000507510.2_Missense_Mutation_p.T1811A|CACNA1G_ENST00000507609.1_Missense_Mutation_p.T1804A|CACNA1G_ENST00000507336.1_Missense_Mutation_p.T1800A|CACNA1G_ENST00000360761.4_Missense_Mutation_p.T1788A|CACNA1G_ENST00000359106.5_Missense_Mutation_p.T1811A|CACNA1G_ENST00000358244.5_Missense_Mutation_p.T1777A|CACNA1G_ENST00000514181.1_Missense_Mutation_p.T1786A|CACNA1G_ENST00000505165.1_Missense_Mutation_p.T1811A|CACNA1G_ENST00000515765.1_Missense_Mutation_p.T1800A|CACNA1G_ENST00000515411.1_Missense_Mutation_p.T1793A|CACNA1G_ENST00000510366.1_Missense_Mutation_p.T1759A|CACNA1G_ENST00000514717.1_Missense_Mutation_p.T1754A|CACNA1G_ENST00000512389.1_Missense_Mutation_p.T1800A|CACNA1G_ENST00000502264.1_Missense_Mutation_p.T1788A|CACNA1G_ENST00000514079.1_Missense_Mutation_p.T1818A|CACNA1G_ENST00000513689.2_Missense_Mutation_p.T1766A|CACNA1G_ENST00000515165.1_Missense_Mutation_p.T1811A|CACNA1G_ENST00000513964.1_Missense_Mutation_p.T1766A|CACNA1G_ENST00000442258.2_Missense_Mutation_p.T1770A|CACNA1G_ENST00000354983.4_Missense_Mutation_p.T1777A|CACNA1G_ENST00000507896.1_Missense_Mutation_p.T1800A|CACNA1G_ENST00000510115.1_Missense_Mutation_p.T1777A|CACNA1G_ENST00000429973.2_Missense_Mutation_p.T1793A|CACNA1G_ENST00000503485.1_Missense_Mutation_p.T1777A	p.T1777A	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		31	5701	+	Breast(11;6.7e-17)		1811					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.5329A>G	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	a	17.97	3.518874	0.64634	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98192	-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78	4.88	3.77	0.43336	Ion transport (1);	0.288717	0.37761	N	0.001956	D	0.97312	0.9121	N	0.20401	0.57	0.51767	D	0.999939	B;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.256;1.0;0.996;0.99;0.999;0.998;0.995;0.999;0.995;1.0;0.999;0.984;1.0;0.999;0.998;1.0;1.0;0.999;0.999;1.0;0.992;0.981;0.999;0.976;0.995	B;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P	0.97110	0.437;1.0;0.996;0.996;0.999;0.996;0.994;0.999;0.994;0.999;0.998;0.943;0.998;0.998;0.996;0.996;0.992;0.978;0.999;0.999;0.987;0.939;0.998;0.95;0.894	D	0.96751	0.9554	10	0.62326	D	0.03	.	10.7382	0.46137	0.8572:0.0:0.0:0.1428	.	1754;1766;1759;1793;1766;1786;1818;1777;1804;1800;1811;1788;1800;1800;1793;1800;1811;1788;1811;1777;1770;1777;1788;1811;1777	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	A	1788;1777;1777;1770;1788;1800;1766;1754;1759;1777;1811;1800;1766;1804;1777;1811;1786;1800;1818;1777;1811;1793;1793;1811;1800	ENSP00000353990:T1788A;ENSP00000339302:T1777A;ENSP00000347078:T1777A;ENSP00000409759:T1770A;ENSP00000425522:T1788A;ENSP00000426261:T1800A;ENSP00000425451:T1766A;ENSP00000422407:T1754A;ENSP00000426814:T1759A;ENSP00000427238:T1777A;ENSP00000423112:T1811A;ENSP00000420918:T1800A;ENSP00000426172:T1766A;ENSP00000423045:T1804A;ENSP00000427173:T1777A;ENSP00000426098:T1811A;ENSP00000425698:T1786A;ENSP00000426232:T1800A;ENSP00000423317:T1818A;ENSP00000350979:T1777A;ENSP00000352011:T1811A;ENSP00000414388:T1793A;ENSP00000423155:T1793A;ENSP00000422268:T1811A;ENSP00000421518:T1800A	ENSP00000339302:T1777A	T	+	1	0	CACNA1G	46051018	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.372000	0.79612	0.670000	0.31165	0.441000	0.28932	ACC		0.562	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		4	18	0	0	0	1	0	4	18				
BPI	671	broad.mit.edu	37	20	36952353	36952353	+	Missense_Mutation	SNP	A	A	T			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr20:36952353A>T	ENST00000262865.4	+	8	939	c.850A>T	c.(850-852)Atg>Ttg	p.M284L	BPI_ENST00000489102.1_3'UTR|CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	284					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				CCATGACCGCATGGTATACCT	0.537																																						ENST00000262865.4																			0				kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30						c.(850-852)Atg>Ttg		bactericidal/permeability-increasing protein							118.0	99.0	105.0					20																	36952353		2203	4300	6503	SO:0001583	missense	671				defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	g.chr20:36952353A>T	J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"""BPI fold containing"""	1095	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 1"""	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.850A>T	20.37:g.36952353A>T	ENSP00000262865:p.Met284Leu					BPI_ENST00000489102.1_3'UTR|CTD-2308N23.2_ENST00000437016.1_RNA	p.M284L	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN			8	939	+		Myeloproliferative disorder(115;0.00878)	284					B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Missense_Mutation	SNP	ENST00000262865.4	37	c.850A>T	CCDS13303.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.268683	0.80469	.	.	ENSG00000101425	ENST00000262865	T	0.35048	1.33	4.5	4.5	0.54988	Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.000000	0.85682	D	0.000000	T	0.61438	0.2347	M	0.88979	2.995	0.41187	D	0.986274	D	0.61080	0.989	P	0.62298	0.9	T	0.70317	-0.4905	10	0.87932	D	0	-41.9861	12.1087	0.53827	1.0:0.0:0.0:0.0	.	284	P17213	BPI_HUMAN	L	284	ENSP00000262865:M284L	ENSP00000262865:M284L	M	+	1	0	BPI	36385767	1.000000	0.71417	0.982000	0.44146	0.202000	0.24057	5.757000	0.68766	2.020000	0.59435	0.533000	0.62120	ATG		0.537	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725		4	57	0	0	0	1	0	4	57				
HGS	9146	broad.mit.edu	37	17	79667546	79667546	+	Silent	SNP	G	G	A			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr17:79667546G>A	ENST00000329138.4	+	19	2067	c.1932G>A	c.(1930-1932)gcG>gcA	p.A644A	MRPL12_ENST00000333676.3_5'Flank|SLC25A10_ENST00000541223.1_5'Flank|RP13-1032I1.7_ENST00000575312.1_RNA|SLC25A10_ENST00000571730.1_5'Flank	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	644	Gln-rich.|Interaction with NF2.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CCACTGGGGCGCAGGCGGCCC	0.657																																						ENST00000329138.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(1930-1932)gcG>gcA		hepatocyte growth factor-regulated tyrosine kinase substrate							53.0	58.0	56.0					17																	79667546		2203	4300	6503	SO:0001819	synonymous_variant	9146				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding	g.chr17:79667546G>A	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"""Zinc fingers, FYVE domain containing"""	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.1932G>A	17.37:g.79667546G>A							p.A644A	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		19	2067	+	all_neural(118;0.0878)|all_lung(278;0.23)		644			Gln-rich.|Interaction with NF2.		Q9NR36	Silent	SNP	ENST00000329138.4	37	c.1932G>A	CCDS11784.1																																																																																				0.657	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		4	55	0	0	0	1	0	4	55				
FSTL4	23105	broad.mit.edu	37	5	132535059	132535059	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr5:132535059C>T	ENST00000265342.7	-	16	2506	c.2257G>A	c.(2257-2259)Gcg>Acg	p.A753T	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	753						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.A753T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCAGAGCCGCGTAGATGTTG	0.572																																						ENST00000265342.7																			1	Substitution - Missense(1)	p.A753T(1)	autonomic_ganglia(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23						c.(2257-2259)Gcg>Acg		follistatin-like 4							70.0	69.0	69.0					5																	132535059		2203	4300	6503	SO:0001583	missense	23105					extracellular region	calcium ion binding	g.chr5:132535059C>T	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.2257G>A	5.37:g.132535059C>T	ENSP00000265342:p.Ala753Thr					CTB-49A3.2_ENST00000509051.1_RNA	p.A753T	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		16	2506	-		all_cancers(142;0.244)	753					Q8TBU0|Q9UPU1	Missense_Mutation	SNP	ENST00000265342.7	37	c.2257G>A	CCDS34238.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277045	0.59758	.	.	ENSG00000053108	ENST00000265342;ENST00000360575	T	0.28069	1.63	4.76	4.76	0.60689	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.58949	0.2158	M	0.79926	2.475	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.95;0.999	T	0.65780	-0.6085	10	0.72032	D	0.01	-23.8056	16.769	0.85532	0.0:1.0:0.0:0.0	.	753;402	Q6MZW2;B3KPF3	FSTL4_HUMAN;.	T	753;584	ENSP00000265342:A753T	ENSP00000265342:A753T	A	-	1	0	FSTL4	132562958	1.000000	0.71417	0.126000	0.21872	0.002000	0.02628	4.540000	0.60664	2.200000	0.70718	0.585000	0.79938	GCG		0.572	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		29	37	0	0	0	1	0	29	37				
OR13C8	138802	broad.mit.edu	37	9	107331756	107331756	+	Missense_Mutation	SNP	T	T	A			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr9:107331756T>A	ENST00000335040.1	+	1	308	c.308T>A	c.(307-309)aTt>aAt	p.I103N		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						CAAATGTTTATTTCTTTTGCC	0.488																																						ENST00000335040.1																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						c.(307-309)aTt>aAt		olfactory receptor, family 13, subfamily C, member 8							121.0	115.0	117.0					9																	107331756		2203	4300	6503	SO:0001583	missense	138802				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107331756T>A		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.308T>A	9.37:g.107331756T>A	ENSP00000334068:p.Ile103Asn						p.I103N	NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN			1	308	+			103					Q5VVG0|Q96R44	Missense_Mutation	SNP	ENST00000335040.1	37	c.308T>A	CCDS35090.1	.	.	.	.	.	.	.	.	.	.	T	12.71	2.018446	0.35606	.	.	ENSG00000186943	ENST00000335040	T	0.01347	4.99	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.622240	0.14048	N	0.344982	T	0.03564	0.0102	M	0.79123	2.44	0.27924	N	0.938123	P	0.41080	0.737	B	0.39590	0.304	T	0.12243	-1.0555	10	0.87932	D	0	.	13.301	0.60326	0.0:0.0:0.0:1.0	.	103	Q8NGS7	O13C8_HUMAN	N	103	ENSP00000334068:I103N	ENSP00000334068:I103N	I	+	2	0	OR13C8	106371577	0.010000	0.17322	0.998000	0.56505	0.272000	0.26649	1.777000	0.38604	2.299000	0.77371	0.533000	0.62120	ATT		0.488	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			6	107	0	0	0	1	0	6	107				
KRT85	3891	broad.mit.edu	37	12	52758885	52758885	+	Missense_Mutation	SNP	A	A	G			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr12:52758885A>G	ENST00000257901.3	-	2	565	c.490T>C	c.(490-492)Tgc>Cgc	p.C164R	KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	164	Linker 1.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TTGCTCTCGCAGCAGCGCTGG	0.612																																						ENST00000257901.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(490-492)Tgc>Cgc		keratin 85							55.0	56.0	56.0					12																	52758885		2203	4300	6503	SO:0001583	missense	3891				epidermis development	keratin filament	protein binding|structural molecule activity	g.chr12:52758885A>G	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.490T>C	12.37:g.52758885A>G	ENSP00000257901:p.Cys164Arg						p.C164R	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	2	565	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		164			Linker 1.|Rod.		Q9NSB1	Missense_Mutation	SNP	ENST00000257901.3	37	c.490T>C	CCDS8824.1	.	.	.	.	.	.	.	.	.	.	A	14.73	2.623967	0.46840	.	.	ENSG00000135443	ENST00000257901	T	0.74737	-0.87	4.51	4.51	0.55191	Filament (1);	0.000000	0.64402	D	0.000004	T	0.75693	0.3884	L	0.41824	1.3	0.80722	D	1	D	0.54964	0.969	D	0.64321	0.924	T	0.76937	-0.2774	10	0.87932	D	0	.	5.127	0.14890	0.625:0.1502:0.0:0.2248	.	164	P78386	KRT85_HUMAN	R	164	ENSP00000257901:C164R	ENSP00000257901:C164R	C	-	1	0	KRT85	51045152	0.000000	0.05858	0.988000	0.46212	0.553000	0.35397	0.203000	0.17315	1.892000	0.54788	0.402000	0.26972	TGC		0.612	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		11	71	0	0	0	1	0	11	71				
CROCCP2	84809	broad.mit.edu	37	1	16946437	16946437	+	lincRNA	SNP	C	C	T	rs2262202	byFrequency	TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr1:16946437C>T	ENST00000412962.1	-	0	1082				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGCCTTCCGCCGGGCCAGCAG	0.672													.|||	800	0.159744	0.1067	0.1571	5008	,	,		61077	0.2659		0.1511	False		,,,				2504	0.1329					ENST00000412962.1																			0																																																			0							g.chr1:16946437C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946437C>T														0	1082	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		5	30	0	0	0	1	0	5	30				
ESPNP	284729	broad.mit.edu	37	1	17023143	17023143	+	RNA	SNP	C	C	T	rs559507	byFrequency	TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr1:17023143C>T	ENST00000492551.1	-	0	1720					NR_026567.1				espin pseudogene																		TGTGGGGCTCCGGACTGGTAA	0.692																																						ENST00000492551.1																			0																																																			0							g.chr1:17023143C>T	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17023143C>T								NR_026567.1						0	1720	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.692	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			6	20	0	0	0	1	0	6	20				
LOC645752	645752	broad.mit.edu	37	15	78208916	78208916	+	lincRNA	SNP	C	C	G	rs56290535	byFrequency	TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr15:78208916C>G	ENST00000565869.1	+	0	53				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							TCCAGATGTTCTCCTCCATCT	0.627													C|||	476	0.0950479	0.0998	0.1023	5008	,	,		17114	0.0675		0.1054	False		,,,				2504	0.1012					ENST00000565869.1																			0																																																			0							g.chr15:78208916C>G																													15.37:g.78208916C>G														0	53	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.627	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			4	67	0	0	0	1	0	4	67				
TCERG1	10915	broad.mit.edu	37	5	145838674	145838674	+	Silent	SNP	A	A	G	rs111879925		TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr5:145838674A>G	ENST00000296702.5	+	4	704	c.666A>G	c.(664-666)caA>caG	p.Q222Q	TCERG1_ENST00000394421.2_Silent_p.Q222Q	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	222	Ala/Gln-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			cccaggcccaagcccaagccc	0.716																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(664-666)caA>caG		transcription elongation regulator 1							14.0	18.0	17.0					5																	145838674		2201	4297	6498	SO:0001819	synonymous_variant	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145838674A>G	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.666A>G	5.37:g.145838674A>G						TCERG1_ENST00000394421.2_Silent_p.Q222Q	p.Q222Q	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	704	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	222			Ala/Gln-rich.		Q2NKN2|Q59EA1	Silent	SNP	ENST00000296702.5	37	c.666A>G	CCDS4282.1																																																																																				0.716	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		4	25	0	0	0	1	0	4	25				
EIF3L	51386	broad.mit.edu	37	22	38251572	38251572	+	Splice_Site	SNP	C	C	T	rs143207366		TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr22:38251572C>T	ENST00000412331.2	+	4	876	c.294C>T	c.(292-294)agC>agT	p.S98S	EIF3L_ENST00000381683.6_Splice_Site_p.S98S|EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000406934.1_Intron	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGATTTTTAGCTGGACCAAGC	0.428																																						ENST00000412331.2																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.e4-1		eukaryotic translation initiation factor 3, subunit L		C	,	0,4406		0,0,2203	63.0	62.0	62.0		294,294	3.0	1.0	22	dbSNP_134	62	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice,coding-synonymous-near-splice	EIF3L	NM_001242923.1,NM_016091.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	98/517,98/565	38251572	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	51386					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:38251572C>T	AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 3, subunit 6 interacting protein"", ""eukaryotic translation initiation factor 3, subunit E interacting protein"""	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.294-1C>T	22.37:g.38251572C>T						EIF3L_ENST00000406934.1_Intron|EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000381683.6_Splice_Site_p.S98_splice	p.S98_splice	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN			4	876	+			98						Splice_Site	SNP	ENST00000412331.2	37	c.293_splice	CCDS13960.1																																																																																				0.428	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091	Silent	3	30	0	0	0	1	0	3	30				
CDH7	1005	broad.mit.edu	37	18	63491897	63491897	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr18:63491897G>A	ENST00000397968.2	+	6	1237	c.811G>A	c.(811-813)Gtc>Atc	p.V271I	CDH7_ENST00000323011.3_Missense_Mutation_p.V271I|CDH7_ENST00000536984.2_Missense_Mutation_p.V271I	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	271	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TCAATATAACGTCCCAGAGTC	0.373																																						ENST00000536984.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80						c.(811-813)Gtc>Atc		cadherin 7, type 2							109.0	102.0	104.0					18																	63491897		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63491897G>A	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.811G>A	18.37:g.63491897G>A	ENSP00000381058:p.Val271Ile					CDH7_ENST00000397968.2_Missense_Mutation_p.V271I|CDH7_ENST00000323011.3_Missense_Mutation_p.V271I	p.V271I			Q9ULB5	CADH7_HUMAN			6	1505	+		Esophageal squamous(42;0.129)	271			Cadherin 3.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.811G>A	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810679	0.50421	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.53857	0.6;0.6;0.6	4.65	4.65	0.58169	Cadherin (4);Cadherin-like (1);	0.148280	0.42548	D	0.000698	T	0.48409	0.1498	L	0.60012	1.86	0.80722	D	1	B;P	0.36199	0.111;0.543	B;B	0.29524	0.023;0.103	T	0.52909	-0.8512	10	0.38643	T	0.18	.	17.9028	0.88910	0.0:0.0:1.0:0.0	.	271;271	F5H5X9;Q9ULB5	.;CADH7_HUMAN	I	271	ENSP00000319166:V271I;ENSP00000443030:V271I;ENSP00000381058:V271I	ENSP00000319166:V271I	V	+	1	0	CDH7	61642877	1.000000	0.71417	0.947000	0.38551	0.891000	0.51852	9.256000	0.95535	2.291000	0.77112	0.637000	0.83480	GTC		0.373	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		8	52	0	0	0	1	0	8	52				
SAMD7	344658	broad.mit.edu	37	3	169644878	169644878	+	Silent	SNP	C	C	T			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr3:169644878C>T	ENST00000428432.2	+	6	1217	c.828C>T	c.(826-828)gaC>gaT	p.D276D	SAMD7_ENST00000335556.3_Silent_p.D276D	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	276										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AGGCCTGGGACGATGGGAAAG	0.562																																						ENST00000428432.2																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(826-828)gaC>gaT		sterile alpha motif domain containing 7							61.0	60.0	61.0					3																	169644878		2203	4300	6503	SO:0001819	synonymous_variant	344658							g.chr3:169644878C>T	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"""Sterile alpha motif (SAM) domain containing"""	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.828C>T	3.37:g.169644878C>T						SAMD7_ENST00000335556.3_Silent_p.D276D	p.D276D	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		6	1217	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		276						Silent	SNP	ENST00000428432.2	37	c.828C>T	CCDS3209.1																																																																																				0.562	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610		33	42	0	0	0	1	0	33	42				
SRPR	6734	broad.mit.edu	37	11	126137086	126137087	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr11:126137086_126137087insT	ENST00000332118.6	-	4	663_664	c.509_510insA	c.(508-510)aagfs	p.K170fs	FOXRED1_ENST00000442061.2_5'Flank|SRPR_ENST00000532259.1_Frame_Shift_Ins_p.K142fs|FOXRED1_ENST00000263578.5_5'Flank|FOXRED1_ENST00000532125.1_5'Flank|SRPR_ENST00000530680.1_5'Flank	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	170					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)	p.K170fs*33(2)|p.K170K(1)		endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		TCTTGGCCCCCTTTTTTTTGCT	0.436																																						ENST00000332118.6																			3	Deletion - Frameshift(2)|Substitution - coding silent(1)	p.K170fs*33(2)|p.K170K(1)	ovary(2)|endometrium(1)	endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21						c.(508-510)aggfs		signal recognition particle receptor (docking protein)			,	0,4262		0,0,2131					,	3.9	1.0			346	1,8253		0,1,4126	no	frameshift,frameshift	SRPR	NM_003139.3,NM_001177842.1	,	0,1,6257	A1A1,A1R,RR		0.0121,0.0,0.0080	,	,		1,12515				SO:0001589	frameshift_variant	6734				SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	g.chr11:126137086_126137087insT	BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"""signal recognition particle receptor ('docking protein')"""			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.510dupA	11.37:g.126137094_126137094dupT	ENSP00000328023:p.Lys170fs					SRPR_ENST00000532259.1_Frame_Shift_Ins_p.R142fs	p.R170fs	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)	4	663_664	-	all_hematologic(175;0.145)		170					A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Frame_Shift_Ins	INS	ENST00000332118.6	37	c.509_510insA	CCDS31717.1																																																																																				0.436	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139		7	258						7	258	---	---	---	---
LA16c-23H5.4	0	broad.mit.edu	37	22	16419352	16419352	+	RNA	DEL	T	T	-			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr22:16419352delT	ENST00000444162.1	+	0	279																											GAATCGACGATTTTTTTTTTG	0.398																																						ENST00000444162.1																			0																																																			0							g.chr22:16419352delT																													22.37:g.16419352delT														0	279	+									RNA	DEL	ENST00000444162.1	37																																																																																						0.398	LA16c-23H5.4-004	KNOWN	basic	antisense	antisense	OTTHUMT00000074929.2			3	5						3	5	---	---	---	---
