#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
GPATCH4	54865	broad.mit.edu	37	1	156568875	156568875	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr1:156568875G>T	ENST00000368232.4	-	0	96				GPATCH4_ENST00000497287.1_5'Flank|GPATCH4_ENST00000334588.7_De_novo_Start_OutOfFrame|GPATCH4_ENST00000438976.2_Intron	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4								poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACTCTCACCAGAGAAGAAGAG	0.448																																						ENST00000368232.4																			0				autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17								G patch domain containing 4							49.0	45.0	46.0					1																	156568875		2203	4300	6503			54865					intracellular	nucleic acid binding	g.chr1:156568875G>T	BC056904	CCDS1146.1, CCDS44245.1	1q22	2013-01-28		2006-12-13	ENSG00000160818	ENSG00000160818		"""G patch domain containing"""	25982	protein-coding gene	gene with protein product				GPATC4		12477932	Standard	NM_015590		Approved	FLJ20249, DKFZP434F1735	uc001fpl.3	Q5T3I0	OTTHUMG00000033203	ENST00000368232.4:c.-37C>A	1.37:g.156568875G>T						GPATCH4_ENST00000438976.2_Intron|GPATCH4_ENST00000334588.7_De_novo_Start_OutOfFrame		NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN			0	96	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)							Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	Translation_Start_Site	SNP	ENST00000368232.4	37		CCDS1146.1																																																																																				0.448	GPATCH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000081029.2	NM_017725		3	71	3	71	---	---	---	---
OR6K2	81448	broad.mit.edu	37	1	158669837	158669837	+	Silent	SNP	G	G	T			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr1:158669837G>T	ENST00000359610.2	-	1	649	c.606C>A	c.(604-606)gtC>gtA	p.V202V		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	202						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V202V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					CTGCATGAATGACATCCACTA	0.483																																						ENST00000359610.2																			1	Substitution - coding silent(1)	p.V202V(1)	prostate(1)	breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46						c.(604-606)gtC>gtA		olfactory receptor, family 6, subfamily K, member 2							169.0	135.0	146.0					1																	158669837		2203	4300	6503	SO:0001819	synonymous_variant	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669837G>T	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.606C>A	1.37:g.158669837G>T							p.V202V	NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN			1	649	-	all_hematologic(112;0.0378)		202					B9EH33|Q6IFR6	Silent	SNP	ENST00000359610.2	37	c.606C>A	CCDS30902.1																																																																																				0.483	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		31	194	31	194	---	---	---	---
TM4SF18	116441	broad.mit.edu	37	3	149040066	149040066	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr3:149040066C>A	ENST00000296059.2	-	5	833	c.568G>T	c.(568-570)Gga>Tga	p.G190*	TM4SF18_ENST00000470080.1_Nonsense_Mutation_p.G190*|RP11-206M11.7_ENST00000489011.1_RNA	NM_138786.3	NP_620141.1	Q96CE8	T4S18_HUMAN	transmembrane 4 L six family member 18	190						integral component of membrane (GO:0016021)		p.G190*(1)		lung(1)|ovary(1)|prostate(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GAATAGCTTCCACACAGTATC	0.428																																						ENST00000296059.2																			1	Substitution - Nonsense(1)	p.G190*(1)	prostate(1)	lung(1)|ovary(1)|prostate(1)	3						c.(568-570)Gga>Tga		transmembrane 4 L six family member 18							104.0	96.0	99.0					3																	149040066		2203	4300	6503	SO:0001587	stop_gained	116441					integral to membrane		g.chr3:149040066C>A	BC014339	CCDS3142.1	3q25.1	2005-08-09			ENSG00000163762	ENSG00000163762			25181	protein-coding gene	gene with protein product						10975581	Standard	NM_001184723		Approved	L6D	uc021xfl.1	Q96CE8	OTTHUMG00000159582	ENST00000296059.2:c.568G>T	3.37:g.149040066C>A	ENSP00000296059:p.Gly190*					RP11-206M11.7_ENST00000489011.1_RNA|TM4SF18_ENST00000470080.1_Nonsense_Mutation_p.G190*	p.G190*	NM_138786.3	NP_620141.1	Q96CE8	T4S18_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		5	833	-			190					B2R8K0|D3DNH5	Nonsense_Mutation	SNP	ENST00000296059.2	37	c.568G>T	CCDS3142.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179999	0.57800	.	.	ENSG00000163762	ENST00000296059;ENST00000470080	.	.	.	5.51	3.38	0.38709	.	0.345327	0.30879	N	0.008700	.	.	.	.	.	.	0.39433	D	0.967117	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-7.0216	11.2203	0.48851	0.0:0.8269:0.0:0.1731	.	.	.	.	X	190	.	ENSP00000296059:G190X	G	-	1	0	TM4SF18	150522756	1.000000	0.71417	0.996000	0.52242	0.431000	0.31685	1.987000	0.40687	1.323000	0.45263	0.650000	0.86243	GGA		0.428	TM4SF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356326.1	NM_138786		3	83	3	83	---	---	---	---
GRID2	2895	broad.mit.edu	37	4	94006409	94006409	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr4:94006409A>G	ENST00000282020.4	+	3	766	c.508A>G	c.(508-510)Ata>Gta	p.I170V	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Intron	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	170					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.I170V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		GAAATTCATTATATTCTATGA	0.353																																						ENST00000282020.4																			1	Substitution - Missense(1)	p.I170V(1)	prostate(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(508-510)Ata>Gta		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						96.0	98.0	97.0					4																	94006409		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94006409A>G	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.508A>G	4.37:g.94006409A>G	ENSP00000282020:p.Ile170Val					GRID2_ENST00000510992.1_Intron|GRID2_ENST00000505687.1_3'UTR	p.I170V	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	3	766	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	170					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.508A>G	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	A	2.844	-0.239903	0.05944	.	.	ENSG00000152208	ENST00000282020	D	0.82167	-1.58	5.23	5.23	0.72850	Extracellular ligand-binding receptor (1);	0.052428	0.85682	D	0.000000	T	0.61887	0.2383	N	0.08118	0	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.58335	-0.7654	10	0.05436	T	0.98	.	9.8859	0.41262	0.9233:0.0:0.0767:0.0	.	170;111	O43424;B4DYB9	GRID2_HUMAN;.	V	170	ENSP00000282020:I170V	ENSP00000282020:I170V	I	+	1	0	GRID2	94225432	0.972000	0.33761	1.000000	0.80357	0.996000	0.88848	2.475000	0.45162	2.112000	0.64535	0.533000	0.62120	ATA		0.353	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			4	347	4	347	---	---	---	---
C6orf165	154313	broad.mit.edu	37	6	88138375	88138375	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr6:88138375C>G	ENST00000507897.1	+	9	1075	c.992C>G	c.(991-993)aCc>aGc	p.T331S	C6ORF165_ENST00000369562.4_Missense_Mutation_p.T331S			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	331								p.T331S(2)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		ACTCTGTGGACCAGCTTGCAA	0.368																																						ENST00000507897.1																			2	Substitution - Missense(2)	p.T331S(2)	prostate(2)	NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(991-993)aCc>aGc		chromosome 6 open reading frame 165							192.0	178.0	183.0					6																	88138375		2203	4300	6503	SO:0001583	missense	154313							g.chr6:88138375C>G	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.992C>G	6.37:g.88138375C>G	ENSP00000426769:p.Thr331Ser					C6ORF165_ENST00000369562.4_Missense_Mutation_p.T331S	p.T331S			Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	9	1075	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	331					A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	ENST00000507897.1	37	c.992C>G	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	C	0.890	-0.725849	0.03158	.	.	ENSG00000213204	ENST00000369562	T	0.29655	1.56	5.09	3.21	0.36854	.	0.400598	0.29602	N	0.011698	T	0.05731	0.0150	L	0.28192	0.835	0.19300	N	0.999972	B	0.15930	0.015	B	0.17433	0.018	T	0.42050	-0.9474	10	0.09590	T	0.72	.	7.821	0.29288	0.3054:0.6188:0.0:0.0758	.	331	Q8IYR0	CF165_HUMAN	S	331	ENSP00000358575:T331S	ENSP00000358575:T331S	T	+	2	0	C6orf165	88195094	0.879000	0.30193	0.737000	0.30932	0.194000	0.23727	1.560000	0.36331	0.437000	0.26423	0.650000	0.86243	ACC		0.368	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		35	346	35	346	---	---	---	---
CYP3A43	64816	broad.mit.edu	37	7	99441785	99441785	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr7:99441785C>A	ENST00000354829.2	+	4	341	c.238C>A	c.(238-240)Ccc>Acc	p.P80T	CYP3A43_ENST00000417625.1_Intron|CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000477658.1_Intron|CYP3A43_ENST00000312017.5_Missense_Mutation_p.P80T|CYP3A43_ENST00000222382.5_Missense_Mutation_p.P80T|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000444905.1_Intron	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	80			YGTHSHKLFKKLGIPGPTPLPFLGTILFYLRGLWNFDRECN EKYGEMWGLYEGQQPMLVIMDPD -> LGPIHINFLRSWEF LGQPLCLFWELFCSTLGVFGILTENVMKNTEKCGGCMRGNS PCWSSWIPT (in allele CYP3A43*2).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)	p.P80T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	GGGGCAACAGCCCATGCTGGT	0.458																																						ENST00000354829.2																			1	Substitution - Missense(1)	p.P80T(1)	prostate(1)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(238-240)Ccc>Acc		cytochrome P450, family 3, subfamily A, polypeptide 43	Cetirizine(DB00341)|Doxycycline(DB00254)						88.0	78.0	81.0					7																	99441785		2203	4300	6503	SO:0001583	missense	64816				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr7:99441785C>A	AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"""Cytochrome P450s"""	17450	protein-coding gene	gene with protein product		606534	"""cytochrome P450, subfamily IIIA, polypeptide 43"""			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.238C>A	7.37:g.99441785C>A	ENSP00000346887:p.Pro80Thr					CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000222382.5_Missense_Mutation_p.P80T|CYP3A43_ENST00000477658.1_Intron|CYP3A43_ENST00000312017.5_Missense_Mutation_p.P80T|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000417625.1_Intron	p.P80T	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN			4	341	+	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		80		YGTHSHKLFKKLGIPGPTPLPFLGTILFYLRGLWNFDRECN EKYGEMWGLYEGQQPMLVIMDPD -> LGPIHINFLRSWEF LGQPLCLFWELFCSTLGVFGILTENVMKNTEKCGGCMRGNS PCWSSWIPT (in allele CYP3A43*2).			Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Missense_Mutation	SNP	ENST00000354829.2	37	c.238C>A	CCDS5676.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416168	0.42918	.	.	ENSG00000021461	ENST00000354829;ENST00000312017;ENST00000222382	T;T;T	0.71103	-0.54;-0.54;-0.54	2.76	0.49	0.16861	.	0.124003	0.56097	D	0.000035	D	0.84853	0.5564	H	0.95224	3.64	0.41837	D	0.990107	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	T	0.82331	-0.0510	10	0.87932	D	0	.	5.2601	0.15567	0.0:0.6474:0.2113:0.1413	.	80;80;80	Q9HB55-3;Q75MK2;Q9HB55	.;.;CP343_HUMAN	T	80	ENSP00000346887:P80T;ENSP00000312110:P80T;ENSP00000222382:P80T	ENSP00000222382:P80T	P	+	1	0	CYP3A43	99279721	0.652000	0.27349	0.002000	0.10522	0.186000	0.23388	2.199000	0.42715	0.433000	0.26313	0.205000	0.17691	CCC		0.458	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1			4	82	4	82	---	---	---	---
AGK	55750	broad.mit.edu	37	7	141315347	141315347	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr7:141315347A>T	ENST00000355413.4	+	8	760	c.500A>T	c.(499-501)gAa>gTa	p.E167V	AGK_ENST00000473247.1_Missense_Mutation_p.E139V|AGK_ENST00000535825.1_Missense_Mutation_p.E164V	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	167	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.E167V(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					CTCTTTGCCGAAAGTGGAAAC	0.443																																						ENST00000355413.4																			2	Substitution - Missense(2)	p.E167V(2)	prostate(2)	breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17						c.(499-501)gAa>gTa		acylglycerol kinase							162.0	161.0	162.0					7																	141315347		2203	4300	6503	SO:0001583	missense	55750				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity	g.chr7:141315347A>T	BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"""multiple substrate lipid kinase"""	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.500A>T	7.37:g.141315347A>T	ENSP00000347581:p.Glu167Val					AGK_ENST00000535825.1_Missense_Mutation_p.E164V|AGK_ENST00000473247.1_Missense_Mutation_p.E139V	p.E167V	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN			8	760	+	Melanoma(164;0.0171)		167			DAGKc.		Q75KN1|Q96GC3|Q9NP48	Missense_Mutation	SNP	ENST00000355413.4	37	c.500A>T	CCDS5865.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.170600	0.38315	.	.	ENSG00000006530	ENST00000355413;ENST00000473247;ENST00000535825	T;T;T	0.22743	1.94;1.94;1.94	5.2	3.96	0.45880	ATP-NAD kinase, PpnK-type, alpha/beta (1);Diacylglycerol kinase, catalytic domain (3);	0.397194	0.27792	N	0.017833	T	0.15609	0.0376	L	0.36672	1.1	0.36007	D	0.837806	B	0.13594	0.008	B	0.19148	0.024	T	0.12268	-1.0554	10	0.16896	T	0.51	.	11.1277	0.48328	0.8456:0.1544:0.0:0.0	.	167	Q53H12	AGK_HUMAN	V	167;139;164	ENSP00000347581:E167V;ENSP00000420776:E139V;ENSP00000444349:E164V	ENSP00000347581:E167V	E	+	2	0	AGK	140961816	0.989000	0.36119	0.674000	0.29902	0.968000	0.65278	2.725000	0.47294	2.086000	0.62901	0.482000	0.46254	GAA		0.443	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348969.1	NM_018238		68	321	68	321	---	---	---	---
NSMAF	8439	broad.mit.edu	37	8	59515931	59515931	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr8:59515931C>T	ENST00000038176.3	-	13	1095	c.883G>A	c.(883-885)Gag>Aag	p.E295K	NSMAF_ENST00000427130.2_Missense_Mutation_p.E326K|NSMAF_ENST00000519858.1_5'UTR	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	295	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)	p.E295K(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				GCAGTGTGCTCCGCCACATGG	0.552																																						ENST00000038176.3																			1	Substitution - Missense(1)	p.E295K(1)	prostate(1)	autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38						c.(883-885)Gag>Aag		neutral sphingomyelinase (N-SMase) activation associated factor							115.0	90.0	98.0					8																	59515931		2203	4300	6503	SO:0001583	missense	8439				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	g.chr8:59515931C>T	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.883G>A	8.37:g.59515931C>T	ENSP00000038176:p.Glu295Lys					NSMAF_ENST00000427130.2_Missense_Mutation_p.E326K|NSMAF_ENST00000519858.1_5'UTR	p.E295K	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN			13	1095	-		all_lung(136;0.174)|Lung NSC(129;0.2)	295			BEACH.		B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	ENST00000038176.3	37	c.883G>A	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904363	0.92035	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	T;T	0.63744	-0.06;-0.06	5.93	5.06	0.68205	BEACH domain (2);	0.000000	0.85682	D	0.000000	T	0.72179	0.3428	L	0.45422	1.42	0.51767	D	0.999937	D;P;D	0.76494	0.999;0.882;0.972	D;B;P	0.83275	0.996;0.218;0.724	T	0.71286	-0.4638	9	.	.	.	.	15.1295	0.72511	0.0:0.9326:0.0:0.0674	.	326;295;295	Q92636-2;A8K9G4;Q92636	.;.;FAN_HUMAN	K	295;326	ENSP00000038176:E295K;ENSP00000411012:E326K	.	E	-	1	0	NSMAF	59678485	1.000000	0.71417	0.897000	0.35233	0.955000	0.61496	6.062000	0.71155	1.529000	0.49120	0.655000	0.94253	GAG		0.552	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580		23	106	23	106	---	---	---	---
ADAMTSL1	92949	broad.mit.edu	37	9	18662047	18662047	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr9:18662047G>A	ENST00000380548.4	+	9	1400	c.1061G>A	c.(1060-1062)tGc>tAc	p.C354Y	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.C354Y|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.C354Y|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.C354Y	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	354						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.C354Y(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CTTCAGGAGTGCAACTTGGAT	0.418																																						ENST00000380548.4																			2	Substitution - Missense(2)	p.C354Y(2)	prostate(2)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(1060-1062)tGc>tAc		ADAMTS-like 1							152.0	134.0	140.0					9																	18662047		2203	4300	6503	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18662047G>A	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.1061G>A	9.37:g.18662047G>A	ENSP00000369921:p.Cys354Tyr					ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.C354Y|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.C354Y|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.C354Y	p.C354Y	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	9	1400	+			354					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.1061G>A	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.596837	0.86953	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000380566;ENST00000276935	D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52	5.49	5.49	0.81192	.	.	.	.	.	D	0.93452	0.7911	H	0.96015	3.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95159	0.8280	9	0.87932	D	0	.	19.3747	0.94503	0.0:0.0:1.0:0.0	.	354;354	Q8N6G6;Q8N6G6-2	ATL1_HUMAN;.	Y	354	ENSP00000369921:C354Y;ENSP00000327887:C354Y;ENSP00000369940:C354Y;ENSP00000276935:C354Y	ENSP00000276935:C354Y	C	+	2	0	ADAMTSL1	18652047	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.807000	0.99171	2.593000	0.87608	0.655000	0.94253	TGC		0.418	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			38	209	38	209	---	---	---	---
ZNF438	220929	broad.mit.edu	37	10	31133925	31133925	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr10:31133925C>G	ENST00000361310.3	-	7	2781	c.2452G>C	c.(2452-2454)Gga>Cga	p.G818R	ZNF438_ENST00000375311.1_Missense_Mutation_p.G382R|ZNF438_ENST00000436087.2_Missense_Mutation_p.G818R|ZNF438_ENST00000413025.1_Missense_Mutation_p.G818R|ZNF438_ENST00000442986.1_Missense_Mutation_p.G818R|ZNF438_ENST00000331737.6_Missense_Mutation_p.G808R|ZNF438_ENST00000538351.2_Missense_Mutation_p.G769R|ZNF438_ENST00000444692.2_Missense_Mutation_p.G808R|ZNF438_ENST00000452305.1_Missense_Mutation_p.G808R			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	818					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G818R(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TCGATCACTCCCTGGTTGGAG	0.542																																						ENST00000452305.1																			1	Substitution - Missense(1)	p.G818R(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2422-2424)Gga>Cga		zinc finger protein 438							181.0	182.0	182.0					10																	31133925		2203	4300	6503	SO:0001583	missense	220929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:31133925C>G	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.2452G>C	10.37:g.31133925C>G	ENSP00000354663:p.Gly818Arg					ZNF438_ENST00000375311.1_Missense_Mutation_p.G382R|ZNF438_ENST00000331737.6_Missense_Mutation_p.G808R|ZNF438_ENST00000436087.2_Missense_Mutation_p.G818R|ZNF438_ENST00000442986.1_Missense_Mutation_p.G818R|ZNF438_ENST00000361310.3_Missense_Mutation_p.G818R|ZNF438_ENST00000413025.1_Missense_Mutation_p.G818R|ZNF438_ENST00000538351.2_Missense_Mutation_p.G769R|ZNF438_ENST00000444692.2_Missense_Mutation_p.G808R	p.G808R	NM_001143770.1	NP_001137242.1	Q7Z4V0	ZN438_HUMAN			9	2985	-		Prostate(175;0.0587)	818					A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	c.2422G>C	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	C	31	5.092996	0.94149	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351;ENST00000430896;ENST00000375311	T;T;T;T;T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35;2.35;2.35;2.35;2.43	5.5	5.5	0.81552	.	0.275531	0.42294	D	0.000725	T	0.42404	0.1201	M	0.65498	2.005	0.51233	D	0.999914	D;D	0.89917	1.0;1.0	D;D	0.71870	0.945;0.975	T	0.20174	-1.0283	10	0.87932	D	0	-21.3209	18.7617	0.91855	0.0:1.0:0.0:0.0	.	818;808	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	R	808;818;818;818;818;808;808;769;537;382	ENSP00000333571:G808R;ENSP00000354663:G818R;ENSP00000406934:G818R;ENSP00000412363:G818R;ENSP00000387546:G818R;ENSP00000413060:G808R;ENSP00000410898:G808R;ENSP00000445461:G769R;ENSP00000364460:G382R	ENSP00000333571:G808R	G	-	1	0	ZNF438	31173931	0.985000	0.35326	0.507000	0.27676	0.387000	0.30353	2.863000	0.48396	2.744000	0.94065	0.655000	0.94253	GGA		0.542	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		80	364	80	364	---	---	---	---
TNKS2	80351	broad.mit.edu	37	10	93600428	93600428	+	Silent	SNP	A	A	G			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr10:93600428A>G	ENST00000371627.4	+	14	2017	c.1638A>G	c.(1636-1638)ctA>ctG	p.L546L		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	546	HIF1AN-binding.				multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.L546L(2)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				AATATCTGCTACAGCATGGAG	0.433																																						ENST00000371627.4																			2	Substitution - coding silent(2)	p.L546L(2)	prostate(2)	biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48						c.(1636-1638)ctA>ctG		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2							215.0	183.0	194.0					10																	93600428		2203	4300	6503	SO:0001819	synonymous_variant	80351				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr10:93600428A>G	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.1638A>G	10.37:g.93600428A>G							p.L546L	NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN			14	2017	+		Colorectal(252;0.162)	546					B2RBD3|Q9H8F2|Q9HAS4	Silent	SNP	ENST00000371627.4	37	c.1638A>G	CCDS7417.1																																																																																				0.433	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235		7	330	7	330	---	---	---	---
MUC6	4588	broad.mit.edu	37	11	1019457	1019457	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr11:1019457G>A	ENST00000421673.2	-	30	3898	c.3848C>T	c.(3847-3849)aCa>aTa	p.T1283I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1283	Pro-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.T1283I(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGCCCTGATGTGGCTTGTGG	0.642																																						ENST00000421673.2																			2	Substitution - Missense(2)	p.T1283I(2)	prostate(2)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(3847-3849)aCa>aTa		mucin 6, oligomeric mucus/gel-forming							145.0	172.0	163.0					11																	1019457		2143	4237	6380	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1019457G>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.3848C>T	11.37:g.1019457G>A	ENSP00000406861:p.Thr1283Ile						p.T1283I	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	30	3898	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1283			Pro-rich.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.3848C>T	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.345561	0.41498	.	.	ENSG00000184956	ENST00000421673	T	0.20200	2.09	2.77	2.77	0.32553	.	.	.	.	.	T	0.31888	0.0811	L	0.34521	1.04	0.09310	N	1	D	0.76494	0.999	D	0.66084	0.941	T	0.08371	-1.0725	9	0.56958	D	0.05	.	11.7009	0.51571	0.0:0.0:1.0:0.0	.	1283	Q6W4X9	MUC6_HUMAN	I	1283	ENSP00000406861:T1283I	ENSP00000406861:T1283I	T	-	2	0	MUC6	1009457	0.997000	0.39634	0.008000	0.14137	0.202000	0.24057	4.538000	0.60650	1.491000	0.48482	0.305000	0.20034	ACA		0.642	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		5	188	5	188	---	---	---	---
RPS6KB2	6199	broad.mit.edu	37	11	67196653	67196653	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr11:67196653G>A	ENST00000312629.5	+	3	227	c.182G>A	c.(181-183)cGc>cAc	p.R61H	AP003419.16_ENST00000535922.1_RNA|RPS6KB2_ENST00000524814.1_3'UTR|RPS6KB2_ENST00000539188.1_Missense_Mutation_p.R61H	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	61					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)	p.R61H(3)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GGCCCAGAGCGCATCGGGCCC	0.622																																						ENST00000312629.5																			3	Substitution - Missense(3)	p.R61H(3)	prostate(3)	breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25						c.(181-183)cGc>cAc		ribosomal protein S6 kinase, 70kDa, polypeptide 2							83.0	92.0	89.0					11																	67196653		2142	4222	6364	SO:0001583	missense	6199				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:67196653G>A	AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"""ribosomal protein S6 kinase, 70kD, polypeptide 2"""			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.182G>A	11.37:g.67196653G>A	ENSP00000308413:p.Arg61His					RPS6KB2_ENST00000539188.1_Missense_Mutation_p.R61H|RPS6KB2_ENST00000524814.1_3'UTR	p.R61H	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		3	227	+			61					B2RMZ9|B4DML8|O94809|Q9UEC1	Missense_Mutation	SNP	ENST00000312629.5	37	c.182G>A	CCDS41677.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.011518	0.54468	.	.	ENSG00000175634	ENST00000524934;ENST00000524814;ENST00000539188;ENST00000312629	T;T;T	0.75477	-0.94;0.7;-0.42	4.55	1.59	0.23543	Protein kinase-like domain (1);	0.070349	0.53938	N	0.000052	T	0.58004	0.2092	L	0.40543	1.245	0.35016	D	0.757408	B;B	0.34349	0.45;0.051	B;B	0.22880	0.042;0.008	T	0.63844	-0.6545	10	0.66056	D	0.02	.	8.0448	0.30542	0.3434:0.0:0.6566:0.0	.	61;61	Q9BRS0;Q9UBS0	.;KS6B2_HUMAN	H	84;61;61;61	ENSP00000436811:R84H;ENSP00000442949:R61H;ENSP00000308413:R61H	ENSP00000308413:R61H	R	+	2	0	RPS6KB2	66953229	0.624000	0.27102	0.993000	0.49108	0.855000	0.48748	0.708000	0.25719	0.543000	0.28864	0.655000	0.94253	CGC		0.622	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	NM_003952		4	192	4	192	---	---	---	---
ATF7IP	55729	broad.mit.edu	37	12	14628823	14628823	+	Splice_Site	SNP	G	G	T			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr12:14628823G>T	ENST00000540793.1	+	10	3017		c.e10-1		ATF7IP_ENST00000543189.1_Splice_Site|ATF7IP_ENST00000536444.1_Splice_Site|ATF7IP_ENST00000261168.4_Splice_Site|ATF7IP_ENST00000544627.1_Splice_Site			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein						DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)		p.?(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TTGTTTTTCAGTGTGGAAAAG	0.363																																						ENST00000544627.1																			1	Unknown(1)	p.?(1)	prostate(1)	cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						c.e11-1		activating transcription factor 7 interacting protein							124.0	118.0	120.0					12																	14628823		2203	4300	6503	SO:0001630	splice_region_variant	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14628823G>T	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.2863-1G>T	12.37:g.14628823G>T						ATF7IP_ENST00000540793.1_Splice_Site|ATF7IP_ENST00000536444.1_Splice_Site|ATF7IP_ENST00000261168.4_Splice_Site|ATF7IP_ENST00000543189.1_Splice_Site				Q6VMQ6	MCAF1_HUMAN			11	3206	+								F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Splice_Site	SNP	ENST00000540793.1	37		CCDS8663.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.227896	0.39399	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2113	0.89871	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATF7IP	14520090	1.000000	0.71417	1.000000	0.80357	0.261000	0.26267	6.327000	0.72910	2.732000	0.93576	0.585000	0.79938	.		0.363	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179	Intron	18	101	18	101	---	---	---	---
TRPV2	51393	broad.mit.edu	37	17	16321054	16321054	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr17:16321054G>T	ENST00000338560.7	+	2	471	c.72G>T	c.(70-72)gaG>gaT	p.E24D	TRPV2_ENST00000577397.1_5'UTR|RP11-138I1.2_ENST00000580996.1_RNA	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	24	Required for interaction with SLC50A1. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)	p.E24D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ATGGCTCTGAGGCGGACAGAG	0.577																																						ENST00000338560.7																			1	Substitution - Missense(1)	p.E24D(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(70-72)gaG>gaT		transient receptor potential cation channel, subfamily V, member 2							72.0	65.0	67.0					17																	16321054		2203	4300	6503	SO:0001583	missense	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16321054G>T	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.72G>T	17.37:g.16321054G>T	ENSP00000342222:p.Glu24Asp					TRPV2_ENST00000577397.1_5'UTR	p.E24D	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	2	471	+			24			Required for interaction with SLC50A1 (By similarity).		A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	37	c.72G>T	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.487454	0.26686	.	.	ENSG00000187688	ENST00000338560	D	0.87412	-2.25	5.62	2.15	0.27550	.	1.885670	0.02180	N	0.060405	T	0.80534	0.4641	L	0.44542	1.39	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.58858	-0.7562	10	0.15952	T	0.53	-11.2032	1.8171	0.03102	0.1772:0.2147:0.4583:0.1499	.	24	Q9Y5S1	TRPV2_HUMAN	D	24	ENSP00000342222:E24D	ENSP00000342222:E24D	E	+	3	2	TRPV2	16261779	0.043000	0.20138	0.220000	0.23810	0.010000	0.07245	-0.147000	0.10234	0.814000	0.34374	0.557000	0.71058	GAG		0.577	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		4	109	4	109	---	---	---	---
CRLF3	51379	broad.mit.edu	37	17	29111372	29111372	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr17:29111372T>G	ENST00000324238.6	-	8	1286	c.1162A>C	c.(1162-1164)Act>Cct	p.T388P	CRLF3_ENST00000544695.1_Missense_Mutation_p.T272P|CTD-2349P21.10_ENST00000585212.1_RNA|CRLF3_ENST00000577725.1_5'Flank	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	388					G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cell growth (GO:0030308)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)		p.T388P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				GTTCCTAGAGTCACGGCTTCA	0.388																																					Pancreas(30;346 881 29244 33464 41299)	ENST00000324238.6																			1	Substitution - Missense(1)	p.T388P(1)	prostate(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1162-1164)Act>Cct		cytokine receptor-like factor 3							81.0	77.0	79.0					17																	29111372		2203	4300	6503	SO:0001583	missense	51379				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter	cytoplasm		g.chr17:29111372T>G	AF120151	CCDS32607.1	17q11.2	2008-05-02				ENSG00000176390			17177	protein-coding gene	gene with protein product		614853					Standard	NM_015986		Approved	CREME9, CYTOR4	uc002hfr.4	Q8IUI8		ENST00000324238.6:c.1162A>C	17.37:g.29111372T>G	ENSP00000318804:p.Thr388Pro					CRLF3_ENST00000544695.1_Missense_Mutation_p.T272P	p.T388P	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN			8	1286	-		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)	388					A6NJF3|B2R8C3|Q2MLY7|Q9UNI3|Q9Y6M8	Missense_Mutation	SNP	ENST00000324238.6	37	c.1162A>C	CCDS32607.1	.	.	.	.	.	.	.	.	.	.	T	9.993	1.231321	0.22626	.	.	ENSG00000176390	ENST00000324238;ENST00000544695	T;T	0.64618	-0.11;-0.11	5.17	5.17	0.71159	.	0.384774	0.30820	N	0.008811	T	0.45357	0.1338	N	0.17474	0.49	0.39955	D	0.974584	B	0.11235	0.004	B	0.12156	0.007	T	0.40757	-0.9546	10	0.32370	T	0.25	-17.3918	12.1077	0.53821	0.0:0.0:0.1533:0.8467	.	388	Q8IUI8	CRLF3_HUMAN	P	388;272	ENSP00000318804:T388P;ENSP00000444188:T272P	ENSP00000318804:T388P	T	-	1	0	CRLF3	26135498	1.000000	0.71417	1.000000	0.80357	0.515000	0.34225	3.963000	0.56773	2.069000	0.61940	0.460000	0.39030	ACT		0.388	CRLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444354.1			3	137	3	137	---	---	---	---
COIL	8161	broad.mit.edu	37	17	55028287	55028287	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr17:55028287G>A	ENST00000240316.4	-	2	350	c.316C>T	c.(316-318)Ctt>Ttt	p.L106F		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	106						Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)	p.L106F(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					GCTTTTCTAAGAGATAAATTA	0.378																																						ENST00000240316.4																			1	Substitution - Missense(1)	p.L106F(1)	prostate(1)	NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15						c.(316-318)Ctt>Ttt		coilin							70.0	74.0	73.0					17																	55028287		2201	4298	6499	SO:0001583	missense	8161					Cajal body|nucleolus	protein C-terminus binding	g.chr17:55028287G>A	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.316C>T	17.37:g.55028287G>A	ENSP00000240316:p.Leu106Phe						p.L106F	NM_004645.2	NP_004636.1	P38432	COIL_HUMAN			2	350	-	Breast(9;6.15e-08)		106					B2R931	Missense_Mutation	SNP	ENST00000240316.4	37	c.316C>T	CCDS11592.1	.	.	.	.	.	.	.	.	.	.	G	6.926	0.540574	0.13250	.	.	ENSG00000121058	ENST00000240316	T	0.41758	0.99	5.84	-0.966	0.10320	.	1.151300	0.06110	N	0.667056	T	0.19167	0.0460	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.12837	0.008	T	0.18147	-1.0346	10	0.32370	T	0.25	-1.0566	1.2869	0.02052	0.317:0.2474:0.3097:0.1259	.	106	P38432	COIL_HUMAN	F	106	ENSP00000240316:L106F	ENSP00000240316:L106F	L	-	1	0	COIL	52383286	0.014000	0.17966	0.038000	0.18304	0.038000	0.13279	0.223000	0.17719	0.069000	0.16605	-0.172000	0.13284	CTT		0.378	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1			4	230	4	230	---	---	---	---
PARVB	29780	broad.mit.edu	37	22	44527372	44527372	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr22:44527372C>G	ENST00000338758.7	+	5	445	c.382C>G	c.(382-384)Ctg>Gtg	p.L128V	PARVB_ENST00000404989.1_Missense_Mutation_p.L91V|PARVB_ENST00000406477.3_Missense_Mutation_p.L161V	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	128	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)		p.L161V(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				TGCAGAAAAACTGGCAGGGTG	0.542																																						ENST00000338758.7																			1	Substitution - Missense(1)	p.L161V(1)	prostate(1)	NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25						c.(382-384)Ctg>Gtg		parvin, beta							78.0	66.0	70.0					22																	44527372		2203	4300	6503	SO:0001583	missense	29780				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding	g.chr22:44527372C>G	AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"""Parvins"""	14653	protein-coding gene	gene with protein product	"""affixin"""	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000338758.7:c.382C>G	22.37:g.44527372C>G	ENSP00000342492:p.Leu128Val					PARVB_ENST00000406477.3_Missense_Mutation_p.L161V|PARVB_ENST00000404989.1_Missense_Mutation_p.L91V	p.L128V	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN			5	445	+		Ovarian(80;0.0246)|all_neural(38;0.0423)				CH 1.		B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	Missense_Mutation	SNP	ENST00000338758.7	37	c.382C>G	CCDS14056.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682657	0.68157	.	.	ENSG00000188677	ENST00000406477;ENST00000338758;ENST00000444029;ENST00000404989	T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42	5.17	3.93	0.45458	Calponin homology domain (5);	0.000000	0.64402	D	0.000001	D	0.82342	0.5016	M	0.88640	2.97	0.80722	D	1	D;D;D;D	0.89917	1.0;0.988;1.0;1.0	D;D;D;D	0.91635	0.998;0.966;0.999;0.997	D	0.84824	0.0798	10	0.87932	D	0	-3.7055	10.6212	0.45481	0.0:0.8556:0.0:0.1444	.	128;91;128;161	A6NG58;B0QYM8;Q9HBI1;Q9HBI1-2	.;.;PARVB_HUMAN;.	V	161;128;126;91	ENSP00000384515:L161V;ENSP00000342492:L128V;ENSP00000393758:L126V;ENSP00000384353:L91V	ENSP00000342492:L128V	L	+	1	2	PARVB	42858705	0.973000	0.33851	0.923000	0.36655	0.944000	0.59088	2.275000	0.43399	2.407000	0.81776	0.655000	0.94253	CTG		0.542	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319518.2	NM_001003828		7	78	7	78	---	---	---	---
