#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
KCNV1	27012	broad.mit.edu	37	8	110984685	110984685	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr8:110984685G>A	ENST00000524391.1	-	3	1825	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W	KCNV1_ENST00000297404.1_Missense_Mutation_p.R265W|RP11-696P8.2_ENST00000530667.1_RNA			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	265					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CACCTGTCCCGCACACACAGG	0.532																																						ENST00000524391.1																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(793-795)Cgg>Tgg		potassium channel, subfamily V, member 1							80.0	68.0	72.0					8																	110984685		2203	4300	6503	SO:0001583	missense	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110984685G>A	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.793C>T	8.37:g.110984685G>A	ENSP00000435954:p.Arg265Trp					KCNV1_ENST00000297404.1_Missense_Mutation_p.R265W	p.R265W			Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		3	1825	-	all_neural(195;0.219)		265					Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	37	c.793C>T	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.273335	0.40194	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.97772	-4.53;-4.53	5.7	2.48	0.30137	Ion transport (1);	0.126345	0.48767	D	0.000164	D	0.97841	0.9291	M	0.63208	1.945	0.35069	D	0.762328	D	0.76494	0.999	P	0.60473	0.875	D	0.99950	1.1533	10	0.72032	D	0.01	.	14.8744	0.70483	0.0:0.0:0.5211:0.4789	.	265	Q6PIU1	KCNV1_HUMAN	W	265;265;141	ENSP00000435954:R265W;ENSP00000297404:R265W	ENSP00000297404:R265W	R	-	1	2	KCNV1	111053861	0.753000	0.28349	1.000000	0.80357	0.997000	0.91878	0.606000	0.24194	0.706000	0.31912	0.557000	0.71058	CGG		0.532	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		3	43	0	0	0	1	0	3	43				
ITPRIPL1	150771	broad.mit.edu	37	2	96993057	96993057	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr2:96993057C>T	ENST00000439118.2	+	3	939	c.688C>T	c.(688-690)Cat>Tat	p.H230Y	ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.H222Y|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.H222Y|ITPRIPL1_ENST00000361124.4_Missense_Mutation_p.H238Y	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	230						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGAACCCTCCATGAGACCCA	0.602																																						ENST00000361124.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(712-714)Cat>Tat		inositol 1,4,5-trisphosphate receptor interacting protein-like 1							41.0	45.0	43.0					2																	96993057		2203	4300	6503	SO:0001583	missense	150771					integral to membrane		g.chr2:96993057C>T		CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.688C>T	2.37:g.96993057C>T	ENSP00000389308:p.His230Tyr					ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.H222Y|ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.H222Y|ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.H230Y	p.H238Y	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN			1	1123	+			230					F5H1L8|Q8NE61	Missense_Mutation	SNP	ENST00000439118.2	37	c.712C>T	CCDS46360.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.316068	0.40996	.	.	ENSG00000198885	ENST00000536814;ENST00000439118;ENST00000361124;ENST00000542887	T;T;T;T	0.18502	2.22;2.22;2.21;2.22	5.24	5.24	0.73138	.	0.558950	0.16119	N	0.228727	T	0.11580	0.0282	N	0.14661	0.345	0.09310	N	1	B;B	0.29716	0.255;0.165	B;B	0.28784	0.094;0.043	T	0.17899	-1.0354	10	0.62326	D	0.03	-4.32	12.4036	0.55426	0.0:0.7234:0.2766:0.0	.	238;230	Q6GPH6-2;Q6GPH6	.;IPIL1_HUMAN	Y	222;230;238;222	ENSP00000439566:H222Y;ENSP00000389308:H230Y;ENSP00000355121:H238Y;ENSP00000438212:H222Y	ENSP00000355121:H238Y	H	+	1	0	ITPRIPL1	96356784	0.961000	0.32948	0.871000	0.34182	0.986000	0.74619	3.079000	0.50104	2.706000	0.92434	0.655000	0.94253	CAT		0.602	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		13	39	0	0	0	1	0	13	39				
OR4N4	283694	broad.mit.edu	37	15	22382875	22382875	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr15:22382875G>C	ENST00000328795.4	+	1	494	c.403G>C	c.(403-405)Gtc>Ctc	p.V135L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTGTTCAACTGTCATGAACCC	0.527																																						ENST00000328795.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40						c.(403-405)Gtc>Ctc		olfactory receptor, family 4, subfamily N, member 4							197.0	170.0	179.0					15																	22382875		2190	4263	6453	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22382875G>C	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.403G>C	15.37:g.22382875G>C	ENSP00000332500:p.Val135Leu					RP11-69H14.6_ENST00000558896.1_RNA	p.V135L	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	494	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	135					Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.403G>C	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	2.961	-0.214525	0.06101	.	.	ENSG00000183706	ENST00000328795	T	0.01092	5.35	3.24	-1.56	0.08532	GPCR, rhodopsin-like superfamily (1);	0.153868	0.30419	N	0.009679	T	0.00637	0.0021	N	0.05050	-0.12	0.09310	N	0.999996	B	0.10296	0.003	B	0.14578	0.011	T	0.47497	-0.9113	10	0.66056	D	0.02	-12.9107	5.5393	0.17030	0.2249:0.4976:0.2775:0.0	.	135	Q8N0Y3	OR4N4_HUMAN	L	135	ENSP00000332500:V135L	ENSP00000332500:V135L	V	+	1	0	OR4N4	19884239	0.003000	0.15002	0.779000	0.31741	0.106000	0.19336	-0.100000	0.10990	-0.145000	0.11294	0.195000	0.17529	GTC		0.527	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			51	36	0	0	0	1	0	51	36				
IGLV3-22	28795	broad.mit.edu	37	22	23047197	23047197	+	RNA	SNP	C	C	T	rs569134161		TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr22:23047197C>T	ENST00000390307.2	+	0	299									immunoglobulin lambda variable 3-22 (gene/pseudogene)																		AATCCCTGAACGATTCTCTGG	0.547													.|||	1	0.000199681	0.0	0.0	5008	,	,		17156	0.001		0.0	False		,,,				2504	0.0					ENST00000390307.2																			0																				55.0	60.0	58.0					22																	23047197		1945	4144	6089			0							g.chr22:23047197C>T	Z73666		22q11.2	2012-02-08	2008-09-12		ENSG00000211661	ENSG00000211661		"""Immunoglobulins / IGL locus"""	5906	other	immunoglobulin gene			"""immunoglobulin lambda variable 3-22"""				Standard	NG_000002		Approved				OTTHUMG00000151229		22.37:g.23047197C>T														0	299	+									RNA	SNP	ENST00000390307.2	37																																																																																						0.547	IGLV3-22-001	KNOWN	not_best_in_genome_evidence|mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321833.2	NG_000002		8	29	0	0	0	1	0	8	29				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	100	0	0	0	1	0	4	100				
CENPF	1063	broad.mit.edu	37	1	214811277	214811277	+	Silent	SNP	G	G	A			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr1:214811277G>A	ENST00000366955.3	+	11	1683	c.1515G>A	c.(1513-1515)ctG>ctA	p.L505L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TCTGCCACCTGGAGGCAGAAC	0.373																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(1513-1515)ctG>ctA		centromere protein F, 350/400kDa							80.0	83.0	82.0					1																	214811277		2203	4300	6503	SO:0001819	synonymous_variant	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214811277G>A	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.1515G>A	1.37:g.214811277G>A							p.L505L	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	11	1683	+			505					Q13171|Q13246|Q5VVM7	Silent	SNP	ENST00000366955.3	37	c.1515G>A	CCDS31023.1																																																																																				0.373	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		20	27	0	0	0	1	0	20	27				
EIF2S1	1965	broad.mit.edu	37	14	67850087	67850087	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr14:67850087T>C	ENST00000256383.4	+	8	1339	c.878T>C	c.(877-879)cTt>cCt	p.L293P	EIF2S1_ENST00000466499.2_Missense_Mutation_p.L293P	NM_004094.4	NP_004085.1	P05198	IF2A_HUMAN	eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa	293					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|protein autophosphorylation (GO:0046777)|regulation of translational initiation in response to stress (GO:0043558)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)		ATGGAGAGGCTTGAAAGAGAA	0.418																																						ENST00000256383.4																			0				breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(877-879)cTt>cCt		eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa							89.0	79.0	83.0					14																	67850087		2203	4300	6503	SO:0001583	missense	1965					cytosol|eukaryotic translation initiation factor 2 complex|polysome|stress granule	protein binding|ribosome binding|translation initiation factor activity	g.chr14:67850087T>C	J02645	CCDS9781.1	14q21.3	2011-01-07	2002-08-29		ENSG00000134001	ENSG00000134001			3265	protein-coding gene	gene with protein product		603907	"""eukaryotic translation initiation factor 2, subunit 1 (alpha, 35kD )"""	EIF2		2948954	Standard	NM_004094		Approved	EIF-2alpha, EIF2A	uc001xjg.3	P05198	OTTHUMG00000029800	ENST00000256383.4:c.878T>C	14.37:g.67850087T>C	ENSP00000256383:p.Leu293Pro					EIF2S1_ENST00000466499.2_Missense_Mutation_p.L293P	p.L293P	NM_004094.4	NP_004085.1	P05198	IF2A_HUMAN		all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)	8	1339	+			293						Missense_Mutation	SNP	ENST00000256383.4	37	c.878T>C	CCDS9781.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.418211	0.83449	.	.	ENSG00000134001	ENST00000256383;ENST00000466499	.	.	.	6.17	6.17	0.99709	Translation initiation factor 2, alpha subunit, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.77061	0.4075	M	0.80332	2.49	0.80722	D	1	P	0.43519	0.809	P	0.53988	0.739	T	0.77983	-0.2382	9	0.51188	T	0.08	-10.805	16.8222	0.85835	0.0:0.0:0.0:1.0	.	293	P05198	IF2A_HUMAN	P	293	.	ENSP00000256383:L293P	L	+	2	0	EIF2S1	66919840	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	CTT		0.418	EIF2S1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074342.3	NM_004094		11	21	0	0	0	1	0	11	21				
NOX1	27035	broad.mit.edu	37	X	100104284	100104284	+	Silent	SNP	T	T	C			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chrX:100104284T>C	ENST00000372966.3	-	11	1633	c.1428A>G	c.(1426-1428)ggA>ggG	p.G476G	NOX1_ENST00000217885.5_Intron|NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Silent_p.G439G	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	476	Interaction with NOXO1.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)			cervix(1)|lung(3)|ovary(1)|skin(2)	7						TGCTGTCCCATCCGGTGAGGA	0.423																																						ENST00000372966.3																			0				cervix(1)|lung(3)|ovary(1)|skin(2)	7						c.(1426-1428)ggA>ggG		NADPH oxidase 1							99.0	67.0	78.0					X																	100104284		2203	4300	6503	SO:0001819	synonymous_variant	27035				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity	g.chrX:100104284T>C	AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"""mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)"", ""NADPH oxidase homolog-1"", ""NADPH oxidase 1 variant NOH-1L"""	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.1428A>G	X.37:g.100104284T>C						NOX1_ENST00000217885.5_Intron|NOX1_ENST00000372960.4_Silent_p.G439G|NOX1_ENST00000372964.1_Intron	p.G476G	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN			11	1633	-			476			Interaction with NOXO1.		A8K836|O95691|Q2PP02	Silent	SNP	ENST00000372966.3	37	c.1428A>G	CCDS14474.1																																																																																				0.423	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	NM_007052		17	15	0	0	0	1	0	17	15				
EMP1	2012	broad.mit.edu	37	12	13367625	13367625	+	Nonstop_Mutation	SNP	A	A	T			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr12:13367625A>T	ENST00000256951.5	+	5	673	c.474A>T	c.(472-474)taA>taT	p.*158Y	EMP1_ENST00000544053.1_3'UTR|EMP1_ENST00000542289.1_Intron|EMP1_ENST00000396301.3_3'UTR|EMP1_ENST00000537612.1_Intron|EMP1_ENST00000431267.2_Nonstop_Mutation_p.*91Y	NM_001423.2	NP_001414.1	P54849	EMP1_HUMAN	epithelial membrane protein 1	0					cell growth (GO:0016049)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)							Prostate(47;0.194)		BRCA - Breast invasive adenocarcinoma(232;0.153)		GAAAGAAATAAGGCCGGACGA	0.542																																						ENST00000256951.5																			0											c.(472-474)taA>taT		epithelial membrane protein 1							98.0	90.0	93.0					12																	13367625		2203	4300	6503	SO:0001578	stop_lost	2012				cell growth|cell proliferation|epidermis development	integral to membrane|membrane fraction		g.chr12:13367625A>T	U43916	CCDS8660.1	12p12.3	2008-08-04				ENSG00000134531			3333	protein-coding gene	gene with protein product		602333				8996089, 9126480	Standard	NM_001423		Approved	TMP, CL-20	uc001rbr.3	P54849		ENST00000256951.5:c.474A>T	12.37:g.13367625A>T	ENSP00000256951:p.*158Tyrext*17					EMP1_ENST00000537612.1_Intron|EMP1_ENST00000431267.2_Nonstop_Mutation_p.*91Y|EMP1_ENST00000396301.3_3'UTR|EMP1_ENST00000544053.1_3'UTR|EMP1_ENST00000542289.1_Intron	p.*158Y	NM_001423.2	NP_001414.1	P54849	EMP1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.153)	5	673	+		Prostate(47;0.194)	0					B2R5N1|B4DRR1|O00681|Q13481|Q13834	Nonstop_Mutation	SNP	ENST00000256951.5	37	c.474A>T	CCDS8660.1	.	.	.	.	.	.	.	.	.	.	A	7.827	0.718947	0.15372	.	.	ENSG00000134531	ENST00000256951;ENST00000431267	.	.	.	5.44	1.76	0.24704	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3514	0.49589	0.904:0.0:0.096:0.0	.	.	.	.	Y	158;91	.	.	X	+	3	2	EMP1	13258892	0.994000	0.37717	0.652000	0.29579	0.177000	0.22998	4.438000	0.59961	0.115000	0.18071	-0.959000	0.02639	TAA		0.542	EMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401019.1	NM_001423		3	72	0	0	0	1	0	3	72				
COL21A1	81578	broad.mit.edu	37	6	56035877	56035877	+	Silent	SNP	T	T	C			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr6:56035877T>C	ENST00000244728.5	-	4	1087	c.690A>G	c.(688-690)ggA>ggG	p.G230G	COL21A1_ENST00000535941.1_Silent_p.G230G|COL21A1_ENST00000370819.1_Silent_p.G230G	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	230	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GAATATCAAATCCCCTTTCAT	0.318																																						ENST00000244728.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41						c.(688-690)ggA>ggG		collagen, type XXI, alpha 1							107.0	97.0	100.0					6																	56035877		1829	4081	5910	SO:0001819	synonymous_variant	0				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:56035877T>C	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.690A>G	6.37:g.56035877T>C						COL21A1_ENST00000370819.1_Silent_p.G230G|COL21A1_ENST00000535941.1_Silent_p.G230G	p.G230G	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		4	1087	-	Lung NSC(77;0.0483)		230			TSP N-terminal.		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Silent	SNP	ENST00000244728.5	37	c.690A>G	CCDS55025.1																																																																																				0.318	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			13	34	0	0	0	1	0	13	34				
PGM5	5239	broad.mit.edu	37	9	71094403	71094403	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr9:71094403G>A	ENST00000396396.1	+	8	1458	c.1229G>A	c.(1228-1230)cGg>cAg	p.R410Q		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	410					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)	p.R410Q(2)		endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						ATTGCTGCCCGGAAGCAGAGT	0.532																																						ENST00000396396.1																			2	Substitution - Missense(2)	p.R410Q(2)	large_intestine(1)|pancreas(1)	endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						c.(1228-1230)cGg>cAg		phosphoglucomutase 5							114.0	116.0	115.0					9																	71094403		2203	4300	6503	SO:0001583	missense	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:71094403G>A	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1229G>A	9.37:g.71094403G>A	ENSP00000379678:p.Arg410Gln						p.R410Q	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN			8	1458	+			410					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	c.1229G>A	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470453	0.84533	.	.	ENSG00000154330	ENST00000396396	T	0.41400	1.0	5.49	5.49	0.81192	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain III (1);	0.057554	0.64402	D	0.000002	T	0.63462	0.2513	M	0.85099	2.735	0.80722	D	1	D	0.71674	0.998	P	0.54815	0.761	T	0.68044	-0.5513	10	0.52906	T	0.07	.	18.4944	0.90860	0.0:0.0:1.0:0.0	.	410	Q15124	PGM5_HUMAN	Q	410	ENSP00000379678:R410Q	ENSP00000379678:R410Q	R	+	2	0	PGM5	70284223	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.539000	0.73856	2.739000	0.93911	0.563000	0.77884	CGG		0.532	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		3	72	0	0	0	1	0	3	72				
NCOA6	23054	broad.mit.edu	37	20	33345756	33345756	+	Silent	SNP	T	T	C			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr20:33345756T>C	ENST00000374796.2	-	8	3365	c.795A>G	c.(793-795)caA>caG	p.Q265Q	NCOA6_ENST00000359003.2_Silent_p.Q265Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	265	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q265Q(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gttgttgttgttgctgctgct	0.537																																						ENST00000374796.2																			1	Substitution - coding silent(1)	p.Q265Q(1)	central_nervous_system(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(793-795)caA>caG		nuclear receptor coactivator 6							62.0	52.0	55.0					20																	33345756		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345756T>C	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.795A>G	20.37:g.33345756T>C						NCOA6_ENST00000359003.2_Silent_p.Q265Q	p.Q265Q			Q14686	NCOA6_HUMAN			8	3365	-			265			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.795A>G	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		3	35	0	0	0	1	0	3	35				
ATP2B2	491	broad.mit.edu	37	3	10401651	10401651	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr3:10401651G>A	ENST00000352432.4	-	12	1885	c.1816C>T	c.(1816-1818)Cgc>Tgc	p.R606C	ATP2B2_ENST00000397077.1_Missense_Mutation_p.R561C|ATP2B2_ENST00000383800.4_Missense_Mutation_p.R561C|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R606C|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R592C			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	606					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ATGGACTTGCGCACGGAGTTG	0.577																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(1681-1683)Cgc>Tgc		ATPase, Ca++ transporting, plasma membrane 2							105.0	86.0	92.0					3																	10401651		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10401651G>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1816C>T	3.37:g.10401651G>A	ENSP00000324172:p.Arg606Cys					ATP2B2_ENST00000383800.4_Missense_Mutation_p.R561C|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R606C|ATP2B2_ENST00000352432.4_Missense_Mutation_p.R606C|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R592C	p.R561C			Q01814	AT2B2_HUMAN			12	2256	-			606					O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.1681C>T	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984389	0.74474	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	T;T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83	4.93	3.96	0.45880	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.90954	0.7156	H	0.99336	4.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.999;1.0	D	0.92652	0.6134	10	0.87932	D	0	-25.3853	10.1956	0.43051	0.0:0.0:0.5371:0.4628	.	541;573;606	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	C	606;561;561;606;592;541;462;606	ENSP00000324172:R606C;ENSP00000373311:R561C;ENSP00000380267:R561C;ENSP00000353414:R606C;ENSP00000344677:R592C;ENSP00000414854:R462C	ENSP00000342954:R606C	R	-	1	0	ATP2B2	10376651	0.864000	0.29904	1.000000	0.80357	0.998000	0.95712	0.990000	0.29642	2.272000	0.75746	0.591000	0.81541	CGC		0.577	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		37	70	0	0	0	1	0	37	70				
MSGN1	343930	broad.mit.edu	37	2	17998086	17998086	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr2:17998086C>T	ENST00000281047.3	+	1	324	c.301C>T	c.(301-303)Cag>Tag	p.Q101*		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	101					cell differentiation (GO:0030154)|segment specification (GO:0007379)|somitogenesis (GO:0001756)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GTTAGCTTTCCAGCCCACCCA	0.647																																					Melanoma(127;325 1712 14802 40657 49130)	ENST00000281047.3																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11						c.(301-303)Cag>Tag		mesogenin 1							32.0	39.0	37.0					2																	17998086		2030	4183	6213	SO:0001587	stop_gained	343930				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:17998086C>T		CCDS42657.1	2p24.2	2007-07-23			ENSG00000151379	ENSG00000151379			14907	protein-coding gene	gene with protein product	"""paraxial mesogenin"""	612209				10837126	Standard	NM_001105569		Approved	pMesogenin1	uc010yjt.2	A6NI15	OTTHUMG00000159089	ENST00000281047.3:c.301C>T	2.37:g.17998086C>T	ENSP00000281047:p.Gln101*						p.Q101*	NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN			1	324	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		101						Nonsense_Mutation	SNP	ENST00000281047.3	37	c.301C>T	CCDS42657.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.763854	0.31228	.	.	ENSG00000151379	ENST00000281047	.	.	.	5.25	4.35	0.52113	.	0.604415	0.15624	N	0.252760	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-17.5194	14.2854	0.66243	0.0:0.9274:0.0:0.0726	.	.	.	.	X	101	.	ENSP00000281047:Q101X	Q	+	1	0	MSGN1	17861567	0.220000	0.23631	0.991000	0.47740	0.103000	0.19146	1.756000	0.38390	2.732000	0.93576	0.655000	0.94253	CAG		0.647	MSGN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353253.1	XM_292850		7	30	0	0	0	1	0	7	30				
FUNDC2P2	388965	broad.mit.edu	37	2	84517949	84517949	+	RNA	SNP	G	G	A			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr2:84517949G>A	ENST00000331369.5	+	0	143									FUN14 domain containing 2 pseudogene 2																		CGAAATGGCCGCGTCCAGTCA	0.587																																						ENST00000331369.5																			0																																																			0							g.chr2:84517949G>A			2p11.2	2010-03-12			ENSG00000182814	ENSG00000182814			17247	pseudogene	pseudogene							Standard	NR_003663		Approved		uc010ffz.1		OTTHUMG00000152875		2.37:g.84517949G>A														0	143	+									RNA	SNP	ENST00000331369.5	37																																																																																						0.587	FUNDC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000333681.1	NR_003663		10	30	0	0	0	1	0	10	30				
HTR1E	3354	broad.mit.edu	37	6	87725923	87725923	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr6:87725923C>T	ENST00000305344.5	+	2	1574	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	291					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.R291C(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GAAGGCAGCACGCATCCTGGG	0.517																																						ENST00000305344.4																			1	Substitution - Missense(1)	p.R291C(1)	kidney(1)	breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41						c.(871-873)Cgc>Tgc		5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	Eletriptan(DB00216)						172.0	160.0	164.0					6																	87725923		2203	4300	6503	SO:0001583	missense	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725923C>T		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.871C>T	6.37:g.87725923C>T	ENSP00000307766:p.Arg291Cys					HTR1E_ENST00000369584.1_Missense_Mutation_p.R291C	p.R291C	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1574	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	291					E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	c.871C>T	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.413221	0.25465	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.40476	1.03;1.03	4.44	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	U	0.000022	T	0.57286	0.2043	M	0.74546	2.27	0.47276	D	0.999375	D	0.89917	1.0	D	0.69479	0.964	T	0.65372	-0.6184	10	0.87932	D	0	.	17.0403	0.86487	0.0:1.0:0.0:0.0	.	291	P28566	5HT1E_HUMAN	C	291	ENSP00000307766:R291C;ENSP00000358597:R291C	ENSP00000307766:R291C	R	+	1	0	HTR1E	87782642	0.989000	0.36119	0.988000	0.46212	0.164000	0.22412	2.763000	0.47605	2.041000	0.60428	0.205000	0.17691	CGC		0.517	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		36	67	0	0	0	1	0	36	67				
CYP4F3	4051	broad.mit.edu	37	19	15758123	15758123	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr19:15758123A>G	ENST00000221307.8	+	5	561	c.514A>G	c.(514-516)Aac>Gac	p.N172D	CYP4F3_ENST00000591058.1_Missense_Mutation_p.N172D|CYP4F3_ENST00000586182.2_Missense_Mutation_p.N172D|CYP4F3_ENST00000585846.1_Missense_Mutation_p.N172D	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	172					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TGAGAGTGTGAACATCATGCA	0.507																																						ENST00000221307.7																			0				endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						c.(514-516)Aac>Gac		cytochrome P450, family 4, subfamily F, polypeptide 3							118.0	123.0	121.0					19																	15758123		2203	4300	6503	SO:0001583	missense	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15758123A>G	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.514A>G	19.37:g.15758123A>G	ENSP00000221307:p.Asn172Asp					CYP4F3_ENST00000586182.1_Missense_Mutation_p.N172D|CYP4F3_ENST00000591058.1_Missense_Mutation_p.N172D|CYP4F3_ENST00000585846.1_Missense_Mutation_p.N172D	p.N172D	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN			5	562	+			172					B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	ENST00000221307.8	37	c.514A>G	CCDS12332.1	.	.	.	.	.	.	.	.	.	.	.	12.04	1.817853	0.32145	.	.	ENSG00000186529	ENST00000538865;ENST00000221307	T	0.67345	-0.26	3.4	-2.11	0.07187	.	0.234790	0.33290	U	0.005080	T	0.40094	0.1103	N	0.13003	0.285	0.23966	N	0.996322	B;B	0.12013	0.003;0.005	B;B	0.20577	0.03;0.03	T	0.14337	-1.0476	10	0.29301	T	0.29	.	5.4507	0.16563	0.2557:0.2014:0.5429:0.0	.	172;172	B7Z8Z3;Q08477	.;CP4F3_HUMAN	D	99;172	ENSP00000221307:N172D	ENSP00000221307:N172D	N	+	1	0	CYP4F3	15619123	0.487000	0.25988	0.002000	0.10522	0.883000	0.51084	1.360000	0.34125	-0.369000	0.08028	0.358000	0.22013	AAC		0.507	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		37	85	0	0	0	1	0	37	85				
MFRP	83552	broad.mit.edu	37	11	119213427	119213427	+	Silent	SNP	C	C	T			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr11:119213427C>T	ENST00000530681.1	-	11	1410	c.1266G>A	c.(1264-1266)ggG>ggA	p.G422G	MFRP_ENST00000360167.4_Missense_Mutation_p.G347D|MFRP_ENST00000529147.1_5'Flank|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000555262.1_Silent_p.G422G|C1QTNF5_ENST00000528368.1_5'Flank|MFRP_ENST00000449574.2_Silent_p.G422G|C1QTNF5_ENST00000525657.1_5'Flank	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	422	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		GCTCACTGGGCCCACAGGGGT	0.627																																						ENST00000360167.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18						c.(1039-1041)gGc>gAc		membrane frizzled-related protein							93.0	85.0	88.0					11																	119213427		2199	4295	6494	SO:0001819	synonymous_variant	83552							g.chr11:119213427C>T	AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"""membrane-type frizzled-related protein"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 1"""	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.1266G>A	11.37:g.119213427C>T						C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000449574.2_Silent_p.G422G|MFRP_ENST00000555262.1_Silent_p.G422G|MFRP_ENST00000530681.1_Silent_p.G422G	p.G347D						BRCA - Breast invasive adenocarcinoma(274;3.84e-05)	9	1191	-		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)						B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Missense_Mutation	SNP	ENST00000530681.1	37	c.1040G>A	CCDS8421.1	.	.	.	.	.	.	.	.	.	.	C	8.393	0.840108	0.16891	.	.	ENSG00000235718	ENST00000360167	T	0.24350	1.86	5.51	-5.18	0.02840	.	0.976484	0.08405	N	0.950790	T	0.06917	0.0176	.	.	.	0.34339	D	0.688588	B	0.09022	0.002	B	0.04013	0.001	T	0.45963	-0.9225	9	0.02654	T	1	-2.8236	1.0115	0.01498	0.2216:0.2241:0.1359:0.4185	.	347	B4DHN8	.	D	347	ENSP00000353291:G347D	ENSP00000353291:G347D	G	-	2	0	MFRP	118718637	0.101000	0.21875	0.094000	0.20943	0.920000	0.55202	-0.738000	0.04871	-1.030000	0.03312	-0.254000	0.11334	GGC		0.627	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000415179.1	NM_031433		16	39	0	0	0	1	0	16	39				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		9	7	0	0	0	1	0	9	7				
PSMC1	5700	broad.mit.edu	37	14	90735788	90735788	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr14:90735788T>C	ENST00000261303.8	+	9	1032	c.929T>C	c.(928-930)tTg>tCg	p.L310S	PSMC1_ENST00000543772.2_Missense_Mutation_p.L237S	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 1	310					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		CGAACAATGTTGGAACTGCTG	0.413																																						ENST00000261303.8																			0				endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6						c.(928-930)tTg>tCg		proteasome (prosome, macropain) 26S subunit, ATPase, 1							119.0	117.0	118.0					14																	90735788		2203	4297	6500	SO:0001583	missense	5700				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr14:90735788T>C	L02426	CCDS32139.1	14q32.11	2010-04-21			ENSG00000100764	ENSG00000100764		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9547	protein-coding gene	gene with protein product		602706				9473509	Standard	NM_002802		Approved	S4, p56	uc001xyf.3	P62191		ENST00000261303.8:c.929T>C	14.37:g.90735788T>C	ENSP00000261303:p.Leu310Ser					PSMC1_ENST00000543772.2_Missense_Mutation_p.L237S	p.L310S	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	9	1032	+		all_cancers(154;0.142)	310					B4DR63|P49014|Q03527|Q6IAW0|Q6NW36|Q96AZ3	Missense_Mutation	SNP	ENST00000261303.8	37	c.929T>C	CCDS32139.1	.	.	.	.	.	.	.	.	.	.	T	19.37	3.814543	0.70912	.	.	ENSG00000100764	ENST00000261303;ENST00000543772	D;D	0.92099	-2.97;-2.97	4.92	4.92	0.64577	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.92938	0.7753	L	0.28014	0.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94144	0.7399	10	0.87932	D	0	-9.8897	14.8736	0.70478	0.0:0.0:0.0:1.0	.	310	P62191	PRS4_HUMAN	S	310;237	ENSP00000261303:L310S;ENSP00000445147:L237S	ENSP00000261303:L310S	L	+	2	0	PSMC1	89805541	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	7.958000	0.87877	1.977000	0.57605	0.460000	0.39030	TTG		0.413	PSMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411253.1	NM_002802		21	53	0	0	0	1	0	21	53				
RNPEPL1	57140	broad.mit.edu	37	2	241513550	241513550	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr2:241513550C>T	ENST00000270357.4	+	5	859	c.266C>T	c.(265-267)cCa>cTa	p.P89L		NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	89					leukotriene biosynthetic process (GO:0019370)		aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		GTCTTCCTGCCACCCTCCTTC	0.627																																						ENST00000270357.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13						c.(265-267)cCa>cTa		arginyl aminopeptidase (aminopeptidase B)-like 1							116.0	84.0	95.0					2																	241513550		2203	4299	6502	SO:0001583	missense	57140				leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr2:241513550C>T			2q37.3	2012-03-06			ENSG00000142327	ENSG00000142327			10079	protein-coding gene	gene with protein product		605287				19508204	Standard	NM_018226		Approved		uc002vzi.4	Q9HAU8	OTTHUMG00000133357	ENST00000270357.4:c.266C>T	2.37:g.241513550C>T	ENSP00000270357:p.Pro89Leu						p.P89L	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)	5	859	+		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)	89					Q5XKC3|Q6NX56|Q96AC9|Q9H033|Q9NVD0	Missense_Mutation	SNP	ENST00000270357.4	37	c.266C>T		.	.	.	.	.	.	.	.	.	.	c	25.5	4.643289	0.87859	.	.	ENSG00000142327	ENST00000270357	T	0.03717	3.83	5.08	5.08	0.68730	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.27697	0.0681	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.34304	-0.9834	10	0.87932	D	0	-19.9274	15.939	0.79739	0.0:1.0:0.0:0.0	.	89	Q9HAU8	RNPL1_HUMAN	L	89	ENSP00000270357:P89L	ENSP00000270357:P89L	P	+	2	0	RNPEPL1	241162223	1.000000	0.71417	0.991000	0.47740	0.865000	0.49528	7.138000	0.77305	2.347000	0.79759	0.486000	0.48141	CCA		0.627	RNPEPL1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257190.4	NM_018226		3	39	0	0	0	1	0	3	39				
RIC8A	60626	broad.mit.edu	37	11	209474	209474	+	Missense_Mutation	SNP	T	T	A			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr11:209474T>A	ENST00000526104.1	+	3	1544	c.200T>A	c.(199-201)cTg>cAg	p.L67Q	BET1L_ENST00000410108.1_5'Flank|BET1L_ENST00000332865.6_5'Flank|RIC8A_ENST00000527696.1_Missense_Mutation_p.L61Q|BET1L_ENST00000382762.3_5'Flank|BET1L_ENST00000529614.2_5'Flank|RIC8A_ENST00000325207.5_Missense_Mutation_p.L67Q|BET1L_ENST00000486280.1_5'Flank|BET1L_ENST00000325147.9_5'Flank			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	67					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GTCATCTGGCTGCAGAGTGTC	0.647																																						ENST00000526104.1																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13						c.(199-201)cTg>cAg		RIC8 guanine nucleotide exchange factor A							81.0	78.0	79.0					11																	209474		2203	4300	6503	SO:0001583	missense	60626					cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr11:209474T>A	AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"""resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"""			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.200T>A	11.37:g.209474T>A	ENSP00000432008:p.Leu67Gln					RIC8A_ENST00000325207.5_Missense_Mutation_p.L67Q|RIC8A_ENST00000527696.1_Missense_Mutation_p.L61Q	p.L67Q			Q9NPQ8	RIC8A_HUMAN		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)	3	1544	+		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	67					Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Missense_Mutation	SNP	ENST00000526104.1	37	c.200T>A		.	.	.	.	.	.	.	.	.	.	T	27.4	4.829479	0.90955	.	.	ENSG00000177963	ENST00000526104;ENST00000325207;ENST00000531209;ENST00000530889;ENST00000527696	T;T;T;T	0.60299	0.38;0.38;0.2;0.38	4.32	4.32	0.51571	Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.78616	0.4311	M	0.88181	2.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.83324	-0.0016	10	0.87932	D	0	-18.5089	13.3635	0.60669	0.0:0.0:0.0:1.0	.	61;67;67	Q9NPQ8-2;Q9NPQ8;Q9NPQ8-3	.;RIC8A_HUMAN;.	Q	67;67;67;71;61	ENSP00000432008:L67Q;ENSP00000325941:L67Q;ENSP00000433968:L71Q;ENSP00000434833:L61Q	ENSP00000325941:L67Q	L	+	2	0	RIC8A	199474	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.525000	0.81892	1.906000	0.55180	0.459000	0.35465	CTG		0.647	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000384761.1	NM_021932		27	40	0	0	0	1	0	27	40				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		4	32	0	0	0	1	0	4	32				
UBXN11	91544	broad.mit.edu	37	1	26629355	26629355	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr1:26629355G>A	ENST00000374222.1	-	3	484	c.20C>T	c.(19-21)tCc>tTc	p.S7F	UBXN11_ENST00000374223.1_Intron|UBXN11_ENST00000314675.7_Missense_Mutation_p.S7F|UBXN11_ENST00000374217.2_Missense_Mutation_p.S7F|UBXN11_ENST00000436301.2_Intron|UBXN11_ENST00000535108.1_Intron|UBXN11_ENST00000374221.3_Missense_Mutation_p.S7F|UBXN11_ENST00000357089.4_Missense_Mutation_p.S7F			Q5T124	UBX11_HUMAN	UBX domain protein 11	7						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						CTTGCTAAGGGAGGCCAAAGG	0.567																																						ENST00000314675.7																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						c.(19-21)tCc>tTc		UBX domain protein 11							70.0	74.0	72.0					1																	26629355		1920	4135	6055	SO:0001583	missense	91544					cytoplasm|cytoskeleton		g.chr1:26629355G>A	AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"""UBX domain containing"""	30600	protein-coding gene	gene with protein product	"""socius"""	609151	"""UBX domain containing 5"""	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.20C>T	1.37:g.26629355G>A	ENSP00000363339:p.Ser7Phe					UBXN11_ENST00000357089.4_Missense_Mutation_p.S7F|UBXN11_ENST00000436301.2_Intron|UBXN11_ENST00000374221.3_Missense_Mutation_p.S7F|UBXN11_ENST00000374222.1_Missense_Mutation_p.S7F|UBXN11_ENST00000374223.1_Intron|UBXN11_ENST00000374217.2_Missense_Mutation_p.S7F|UBXN11_ENST00000535108.1_Intron	p.S7F	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN			2	99	-			7					D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Missense_Mutation	SNP	ENST00000374222.1	37	c.20C>T	CCDS41288.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973605	0.74246	.	.	ENSG00000158062	ENST00000314675;ENST00000357089;ENST00000374221;ENST00000374222;ENST00000374217;ENST00000389235;ENST00000452980;ENST00000442942;ENST00000421827	T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.02	5.02	0.67125	.	0.353469	0.26911	N	0.021874	T	0.67173	0.2865	M	0.72118	2.19	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.997;0.997;0.996	T	0.70160	-0.4948	10	0.72032	D	0.01	-25.8182	14.2226	0.65839	0.0:0.0:1.0:0.0	.	7;7;7	Q5T124-2;Q5T124-3;Q5T124	.;.;UBX11_HUMAN	F	7	ENSP00000324721:S7F;ENSP00000349601:S7F;ENSP00000363338:S7F;ENSP00000363339:S7F;ENSP00000363334:S7F;ENSP00000410357:S7F;ENSP00000404956:S7F	ENSP00000324721:S7F	S	-	2	0	UBXN11	26501942	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.353000	0.59411	2.497000	0.84241	0.655000	0.94253	TCC		0.567	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		13	22	0	0	0	1	0	13	22				
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A	rs373338988		TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr9:20414379G>A	ENST00000380338.4	-	5	751	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	155	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S155S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.532			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S155S(4)	urinary_tract(1)|large_intestine(1)|lung(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(463-465)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							10.0	15.0	14.0					9																	20414379		1871	3851	5722	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414379G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.465C>T	9.37:g.20414379G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000355930.6_5'UTR	p.S155S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	751	-			155			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.465C>T	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		3	42	0	0	0	1	0	3	42				
PGM2	55276	broad.mit.edu	37	4	37848860	37848860	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr4:37848860C>G	ENST00000381967.4	+	10	1326	c.1226C>G	c.(1225-1227)gCc>gGc	p.A409G	PGM2_ENST00000544359.1_Missense_Mutation_p.A270G|PGM2_ENST00000537241.1_Missense_Mutation_p.A249G	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	409					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						GGAAACAGAGCCAAACAGCTA	0.383																																						ENST00000381967.4																			0				breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						c.(1225-1227)gCc>gGc		phosphoglucomutase 2							96.0	89.0	91.0					4																	37848860		2203	4300	6503	SO:0001583	missense	55276				glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	g.chr4:37848860C>G	BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"""phosphopentomutase"""	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.1226C>G	4.37:g.37848860C>G	ENSP00000371393:p.Ala409Gly					PGM2_ENST00000544359.1_Missense_Mutation_p.A270G|PGM2_ENST00000537241.1_Missense_Mutation_p.A249G	p.A409G	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN			10	1326	+			409					B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Missense_Mutation	SNP	ENST00000381967.4	37	c.1226C>G	CCDS3443.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898381	0.72639	.	.	ENSG00000169299	ENST00000381967;ENST00000544359;ENST00000537241	T;T;T	0.43688	0.94;0.94;0.94	5.96	5.96	0.96718	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain III (1);	0.090297	0.85682	D	0.000000	T	0.44329	0.1288	L	0.56340	1.77	0.80722	D	1	B;B	0.29301	0.119;0.241	B;B	0.36922	0.223;0.236	T	0.28004	-1.0057	10	0.37606	T	0.19	-20.7464	13.5937	0.61975	0.0:0.9296:0.0:0.0704	.	409;270	Q96G03;B4E0G8	PGM2_HUMAN;.	G	409;270;249	ENSP00000371393:A409G;ENSP00000438025:A270G;ENSP00000437342:A249G	ENSP00000371393:A409G	A	+	2	0	PGM2	37525255	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.970000	0.70431	2.832000	0.97577	0.655000	0.94253	GCC		0.383	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290		7	39	0	0	0	1	0	7	39				
USH2A	7399	broad.mit.edu	37	1	215956215	215956215	+	Nonsense_Mutation	SNP	G	G	A	rs111033379		TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr1:215956215G>A	ENST00000307340.3	-	53	10836	c.10450C>T	c.(10450-10452)Cga>Tga	p.R3484*	USH2A_ENST00000366943.2_Nonsense_Mutation_p.R3484*	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3484	Fibronectin type-III 19. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGAGTCCTCGCCCATAGCTG	0.443										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527	GRCh37	CM080610	USH2A	M	rs111033379	c.(10450-10452)Cga>Tga		Usher syndrome 2A (autosomal recessive, mild)							78.0	70.0	73.0					1																	215956215		2203	4300	6503	SO:0001587	stop_gained	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215956215G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10450C>T	1.37:g.215956215G>A	ENSP00000305941:p.Arg3484*	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Nonsense_Mutation_p.R3484*	p.R3484*			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	53	10836	-			3484			Fibronectin type-III 19.		Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	ENST00000307340.3	37	c.10450C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	54	21.760685	0.99943	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	.	.	.	5.22	3.23	0.37069	.	0.236537	0.20685	U	0.087562	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	8.0845	0.30765	0.086:0.0:0.6762:0.2377	.	.	.	.	X	3484	.	ENSP00000305941:R3484X	R	-	1	2	USH2A	214022838	0.099000	0.21834	1.000000	0.80357	0.838000	0.47535	1.143000	0.31553	1.202000	0.43218	0.655000	0.94253	CGA		0.443	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		5	54	0	0	0	1	0	5	54				
ELMSAN1	91748	broad.mit.edu	37	14	74196649	74196649	+	Missense_Mutation	SNP	C	C	T	rs141337993	byFrequency	TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr14:74196649C>T	ENST00000286523.5	-	4	2571	c.1789G>A	c.(1789-1791)Gtg>Atg	p.V597M	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.V597M	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	597					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GGTTTCCGCACGGAAGGCTCC	0.587													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		15503	0.0		0.0	False		,,,				2504	0.0					ENST00000286523.5																			0											c.(1789-1791)Gtg>Atg		ELM2 and Myb/SANT-like domain containing 1		C	MET/VAL,MET/VAL	0,4406		0,0,2203	43.0	42.0	42.0		1789,1789	3.5	0.7	14	dbSNP_134	42	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	C14orf43	NM_001043318.1,NM_194278.3	21,21	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	597/1046,597/1046	74196649	2,13004	2203	4300	6503	SO:0001583	missense	91748							g.chr14:74196649C>T	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.1789G>A	14.37:g.74196649C>T	ENSP00000286523:p.Val597Met					ELMSAN1_ENST00000394071.2_Missense_Mutation_p.V597M	p.V597M	NM_194278.3	NP_919254.2					4	2571	-								Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	ENST00000286523.5	37	c.1789G>A	CCDS9819.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	11.55	1.673529	0.29693	0.0	2.33E-4	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.14640	2.49;2.49;2.49;2.49	5.4	3.51	0.40186	.	0.472937	0.19471	N	0.113452	T	0.06735	0.0172	N	0.08118	0	0.21652	N	0.999606	B;B	0.20164	0.042;0.042	B;B	0.11329	0.004;0.006	T	0.31971	-0.9924	10	0.41790	T	0.15	-7.2208	7.4783	0.27390	0.2961:0.6267:0.0:0.0771	.	597;597	A0PJD3;Q6PJG2	.;CN043_HUMAN	M	597	ENSP00000377634:V597M;ENSP00000286523:V597M;ENSP00000407767:V597M;ENSP00000402380:V597M	ENSP00000286523:V597M	V	-	1	0	C14orf43	73266402	0.619000	0.27059	0.679000	0.29978	0.972000	0.66771	1.617000	0.36943	0.581000	0.29539	0.579000	0.79373	GTG		0.587	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		9	28	0	0	0	1	0	9	28				
ZNF318	24149	broad.mit.edu	37	6	43323044	43323044	+	Silent	SNP	T	T	C			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr6:43323044T>C	ENST00000361428.2	-	4	2105	c.2028A>G	c.(2026-2028)ctA>ctG	p.L676L	ZNF318_ENST00000318149.3_Silent_p.L676L	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	676					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CCCTGCTCTCTAGTCTGTGGG	0.542																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(2026-2028)ctA>ctG		zinc finger protein 318							157.0	118.0	131.0					6																	43323044		2203	4300	6503	SO:0001819	synonymous_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43323044T>C	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.2028A>G	6.37:g.43323044T>C						ZNF318_ENST00000318149.3_Silent_p.L676L	p.L676L	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		4	2105	-			676					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Silent	SNP	ENST00000361428.2	37	c.2028A>G	CCDS4895.2																																																																																				0.542	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		24	45	0	0	0	1	0	24	45				
MAP2K7	5609	broad.mit.edu	37	19	7968910	7968910	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr19:7968910G>T	ENST00000397979.3	+	1	135	c.81G>T	c.(79-81)agG>agT	p.R27S	MAP2K7_ENST00000397983.3_Missense_Mutation_p.R27S|AC010336.1_ENST00000539278.1_5'Flank|MAP2K7_ENST00000545011.1_Missense_Mutation_p.R27S|MAP2K7_ENST00000397981.3_Missense_Mutation_p.R27S|RN7SL115P_ENST00000392196.5_RNA	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	27					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						CCCGGCGGAGGATCGACCTCA	0.746																																						ENST00000545011.1																			0				breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						c.(79-81)agG>agT		mitogen-activated protein kinase kinase 7	Etoposide(DB00773)						12.0	18.0	16.0					19																	7968910		1875	4078	5953	SO:0001583	missense	5609				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:7968910G>T	AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.81G>T	19.37:g.7968910G>T	ENSP00000381066:p.Arg27Ser					MAP2K7_ENST00000397983.3_Missense_Mutation_p.R27S|MAP2K7_ENST00000397981.3_Missense_Mutation_p.R27S|MAP2K7_ENST00000397979.3_Missense_Mutation_p.R27S	p.R27S			O14733	MP2K7_HUMAN			1	146	+			27					B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Missense_Mutation	SNP	ENST00000397979.3	37	c.81G>T	CCDS42491.1	.	.	.	.	.	.	.	.	.	.	g	15.24	2.774862	0.49786	.	.	ENSG00000076984	ENST00000397981;ENST00000397983;ENST00000545011;ENST00000425613;ENST00000397979	T;T;T;T	0.72051	-0.33;-0.4;-0.62;-0.44	3.77	3.77	0.43336	.	0.000000	0.85682	U	0.000000	T	0.64713	0.2623	L	0.36672	1.1	0.38362	D	0.944626	B;B;D	0.58268	0.03;0.092;0.982	B;B;P	0.53006	0.015;0.039;0.715	T	0.62863	-0.6764	10	0.22109	T	0.4	-12.2447	7.073	0.25189	0.1223:0.0:0.8776:0.0	.	27;27;27	O14733-4;O14733;B4DV95	.;MP2K7_HUMAN;.	S	27	ENSP00000381068:R27S;ENSP00000381070:R27S;ENSP00000443946:R27S;ENSP00000381066:R27S	ENSP00000381066:R27S	R	+	3	2	MAP2K7	7874910	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.687000	0.25407	1.962000	0.57031	0.457000	0.33378	AGG		0.746	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1			3	2	1	0	2.56e-06	1	2.56e-06	3	2				
RUNX3	864	broad.mit.edu	37	1	25245770	25245770	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr1:25245770C>A	ENST00000308873.6	-	3	513	c.505G>T	c.(505-507)Gcc>Tcc	p.A169S	RUNX3_ENST00000338888.3_Missense_Mutation_p.A183S|RUNX3_ENST00000540420.1_Missense_Mutation_p.A76S|RUNX3_ENST00000399916.1_Missense_Mutation_p.A183S|RUNX3_ENST00000496967.1_5'UTR	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	169	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		ACCTTGATGGCTCGGTGGTAG	0.652																																						ENST00000399916.1																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(547-549)Gcc>Tcc		runt-related transcription factor 3							84.0	72.0	76.0					1																	25245770		2203	4300	6503	SO:0001583	missense	864				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:25245770C>A	BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000308873.6:c.505G>T	1.37:g.25245770C>A	ENSP00000308051:p.Ala169Ser					RUNX3_ENST00000338888.3_Missense_Mutation_p.A183S|RUNX3_ENST00000308873.6_Missense_Mutation_p.A169S|RUNX3_ENST00000540420.1_Missense_Mutation_p.A76S|RUNX3_ENST00000496967.1_5'UTR	p.A183S	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)	4	985	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	169					B1AJV5|Q12969|Q13760	Missense_Mutation	SNP	ENST00000308873.6	37	c.547G>T	CCDS257.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094094	0.76870	.	.	ENSG00000020633	ENST00000399916;ENST00000308873;ENST00000338888;ENST00000540420;ENST00000428150	D;D;D;D	0.99688	-6.41;-6.41;-6.41;-6.41	5.07	5.07	0.68467	Acute myeloid leukemia 1 (AML 1)/Runt (2);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99760	0.9903	M	0.89715	3.055	0.80722	D	1	D;D;D	0.69078	0.997;0.995;0.995	D;D;D	0.87578	0.997;0.998;0.998	D	0.97222	0.9878	10	0.87932	D	0	-32.4837	18.4912	0.90848	0.0:1.0:0.0:0.0	.	169;183;169	E9PH34;B1AJV5;Q13761	.;.;RUNX3_HUMAN	S	183;169;183;76;169	ENSP00000382800:A183S;ENSP00000308051:A169S;ENSP00000343477:A183S;ENSP00000444872:A76S	ENSP00000308051:A169S	A	-	1	0	RUNX3	25118357	1.000000	0.71417	1.000000	0.80357	0.113000	0.19764	7.802000	0.85969	2.368000	0.80403	0.655000	0.94253	GCC		0.652	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009284.1	NM_004350		8	39	1	0	1.06961e-07	1	1.0919e-07	8	39				
NUP133	55746	broad.mit.edu	37	1	229625797	229625797	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr1:229625797G>A	ENST00000261396.3	-	9	1190	c.1099C>T	c.(1099-1101)Ctc>Ttc	p.L367F	NUP133_ENST00000537506.1_Missense_Mutation_p.L351F	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	367					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TAATAGATGAGACATGGATTG	0.378																																						ENST00000261396.3																			0				NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56						c.(1099-1101)Ctc>Ttc		nucleoporin 133kDa							59.0	58.0	58.0					1																	229625797		2203	4300	6503	SO:0001583	missense	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229625797G>A		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.1099C>T	1.37:g.229625797G>A	ENSP00000261396:p.Leu367Phe					NUP133_ENST00000537506.1_Missense_Mutation_p.L351F|NUP133_ENST00000366679.1_Missense_Mutation_p.L367F	p.L367F	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN			9	1190	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	367					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	37	c.1099C>T	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688514	0.88639	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.43294	0.95;0.95;0.95	5.54	5.54	0.83059	WD40/YVTN repeat-like-containing domain (1);Nucleoporin, Nup133/Nup155-like, N-terminal (1);	0.131674	0.53938	D	0.000050	T	0.53626	0.1808	M	0.63428	1.95	0.58432	D	0.999997	P	0.51653	0.947	P	0.53988	0.739	T	0.42241	-0.9463	10	0.10111	T	0.7	-24.765	19.8379	0.96666	0.0:0.0:1.0:0.0	.	367	Q8WUM0	NU133_HUMAN	F	367;367;367;351	ENSP00000261396:L367F;ENSP00000355640:L367F;ENSP00000443496:L351F	ENSP00000261396:L367F	L	-	1	0	NUP133	227692420	1.000000	0.71417	0.561000	0.28357	0.971000	0.66376	4.317000	0.59184	2.765000	0.95021	0.655000	0.94253	CTC		0.378	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		6	49	0	0	0	1	0	6	49				
ITGAM	3684	broad.mit.edu	37	16	31289353	31289353	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr16:31289353C>T	ENST00000287497.8	+	12	1354	c.1279C>T	c.(1279-1281)Cag>Tag	p.Q427*	ITGAM_ENST00000544665.3_Nonsense_Mutation_p.Q427*			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	427					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						ACCTCGATATCAGCACATCGG	0.572																																						ENST00000544665.3																			0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(1279-1281)Cag>Tag		integrin, alpha M (complement component 3 receptor 3 subunit)							51.0	52.0	52.0					16																	31289353		2072	4194	6266	SO:0001587	stop_gained	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31289353C>T	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1279C>T	16.37:g.31289353C>T	ENSP00000287497:p.Gln427*					ITGAM_ENST00000287497.8_Nonsense_Mutation_p.Q427*	p.Q427*	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN			12	1350	+			427					Q4VAK0|Q4VAK1|Q4VAK2	Nonsense_Mutation	SNP	ENST00000287497.8	37	c.1279C>T	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	C	34	5.324578	0.95708	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	.	.	.	4.54	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	12.9575	0.58438	0.0:1.0:0.0:0.0	.	.	.	.	X	427	.	ENSP00000287497:Q427X	Q	+	1	0	ITGAM	31196854	1.000000	0.71417	0.997000	0.53966	0.419000	0.31324	3.829000	0.55760	2.490000	0.84030	0.561000	0.74099	CAG		0.572	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		4	10	0	0	0	1	0	4	10				
MET	4233	broad.mit.edu	37	7	116435978	116435978	+	Missense_Mutation	SNP	G	G	A	rs587778444		TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr7:116435978G>A	ENST00000318493.6	+	21	4214	c.4027G>A	c.(4027-4029)Gaa>Aaa	p.E1343K	MET_ENST00000539704.1_Missense_Mutation_p.E195K|MET_ENST00000397752.3_Missense_Mutation_p.E1325K			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E1343K(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CCCTAAAGCCGAAATGCGCCC	0.433			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"""papillary renal, head-neck squamous cell """		1	Substitution - Missense(1)	p.E1343K(1)	ovary(1)	NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(3973-3975)Gaa>Aaa		met proto-oncogene							122.0	113.0	116.0					7																	116435978		1923	4113	6036	SO:0001583	missense	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116435978G>A	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.4027G>A	7.37:g.116435978G>A	ENSP00000317272:p.Glu1343Lys					MET_ENST00000318493.6_Missense_Mutation_p.E1343K|MET_ENST00000539704.1_Missense_Mutation_p.E195K	p.E1325K	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		21	4173	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	1325			Interaction with MUC20.|Interaction with RANBP9.|Protein kinase.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.3973G>A	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.022346	0.75275	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000539704	D;D;D	0.83250	-1.7;-1.7;-1.7	5.72	5.72	0.89469	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86715	0.5999	N	0.21194	0.64	0.80722	D	1	P;D	0.89917	0.926;1.0	P;D	0.85130	0.721;0.997	D	0.87793	0.2620	10	0.72032	D	0.01	.	20.244	0.98389	0.0:0.0:1.0:0.0	.	1343;1325	P08581-2;P08581	.;MET_HUMAN	K	1325;1343;195	ENSP00000380860:E1325K;ENSP00000317272:E1343K;ENSP00000445020:E195K	ENSP00000317272:E1343K	E	+	1	0	MET	116223214	1.000000	0.71417	0.979000	0.43373	0.947000	0.59692	7.528000	0.81941	2.865000	0.98341	0.655000	0.94253	GAA		0.433	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			63	59	0	0	0	1	0	63	59				
C2orf48	348738	broad.mit.edu	37	2	10350581	10350581	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr2:10350581G>A	ENST00000381786.3	+	4	627	c.338G>A	c.(337-339)aGa>aAa	p.R113K		NM_182626.2	NP_872432.1	Q96LS8	CB048_HUMAN	chromosome 2 open reading frame 48	113										endometrium(1)|lung(7)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)		CCCTGTTTCAGAATGAAGTTA	0.577																																						ENST00000381786.3																			0				endometrium(1)|lung(7)	8						c.(337-339)aGa>aAa		chromosome 2 open reading frame 48							52.0	56.0	55.0					2																	10350581		2203	4300	6503	SO:0001583	missense	348738							g.chr2:10350581G>A	AK057831	CCDS1670.1	2p25.1	2006-09-01			ENSG00000163009	ENSG00000163009			26322	protein-coding gene	gene with protein product						12477932	Standard	NM_182626		Approved	FLJ25102	uc021vds.1	Q96LS8	OTTHUMG00000119017	ENST00000381786.3:c.338G>A	2.37:g.10350581G>A	ENSP00000371205:p.Arg113Lys						p.R113K	NM_182626.2	NP_872432.1	Q96LS8	CB048_HUMAN		Epithelial(75;0.188)	4	627	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		113						Missense_Mutation	SNP	ENST00000381786.3	37	c.338G>A	CCDS1670.1	.	.	.	.	.	.	.	.	.	.	G	4.269	0.048974	0.08243	.	.	ENSG00000163009	ENST00000381786	T	0.42900	0.96	1.5	0.536	0.17138	.	.	.	.	.	T	0.20455	0.0492	N	0.08118	0	0.09310	N	1	B	0.14805	0.011	B	0.06405	0.002	T	0.19451	-1.0305	9	0.87932	D	0	.	4.8163	0.13369	0.0:0.0:0.6388:0.3612	.	113	Q96LS8	CB048_HUMAN	K	113	ENSP00000371205:R113K	ENSP00000371205:R113K	R	+	2	0	C2orf48	10268032	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.176000	0.16782	0.165000	0.19558	0.542000	0.68232	AGA		0.577	C2orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239217.1	NM_182626		9	39	0	0	0	1	0	9	39				
EXOC1	55763	broad.mit.edu	37	4	56726617	56726617	+	Silent	SNP	C	C	T			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr4:56726617C>T	ENST00000381295.2	+	3	513	c.165C>T	c.(163-165)gtC>gtT	p.V55V	EXOC1_ENST00000346134.7_Silent_p.V55V|EXOC1_ENST00000349598.6_Silent_p.V55V	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	55					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TGGTCAAAGTCAAGAAATCCG	0.413																																						ENST00000381295.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35						c.(163-165)gtC>gtT		exocyst complex component 1							128.0	126.0	127.0					4																	56726617		2203	4300	6503	SO:0001819	synonymous_variant	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56726617C>T	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.165C>T	4.37:g.56726617C>T						EXOC1_ENST00000349598.6_Silent_p.V55V|EXOC1_ENST00000346134.7_Silent_p.V55V	p.V55V	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN			3	513	+	Glioma(25;0.08)|all_neural(26;0.101)		55					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Silent	SNP	ENST00000381295.2	37	c.165C>T	CCDS3502.1																																																																																				0.413	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		13	55	0	0	0	1	0	13	55				
FIBIN	387758	broad.mit.edu	37	11	27016184	27016184	+	Silent	SNP	C	C	T			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr11:27016184C>T	ENST00000318627.2	+	1	557	c.111C>T	c.(109-111)ttC>ttT	p.F37F		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	37						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						ACCACTACTTCGTGCCCGATG	0.582																																						ENST00000318627.2																			0				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						c.(109-111)ttC>ttT		fin bud initiation factor homolog (zebrafish)							75.0	72.0	73.0					11																	27016184		2203	4299	6502	SO:0001819	synonymous_variant	387758					extracellular region|Golgi apparatus		g.chr11:27016184C>T	BC026873	CCDS7861.1	11p14.2	2008-12-03				ENSG00000176971			33747	protein-coding gene	gene with protein product						17196583	Standard	NM_203371		Approved	MGC24932	uc001mrd.3	Q8TAL6		ENST00000318627.2:c.111C>T	11.37:g.27016184C>T							p.F37F	NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN			1	557	+			37						Silent	SNP	ENST00000318627.2	37	c.111C>T	CCDS7861.1																																																																																				0.582	FIBIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387945.1	NM_203371		12	24	0	0	0	1	0	12	24				
GOLGA4	2803	broad.mit.edu	37	3	37366393	37366393	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr3:37366393A>G	ENST00000361924.2	+	14	3390	c.3016A>G	c.(3016-3018)Atg>Gtg	p.M1006V	GOLGA4_ENST00000356847.4_Missense_Mutation_p.M1028V|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1006	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AATGCTGGAAATGGCACAGGC	0.388																																						ENST00000361924.2																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(3016-3018)Atg>Gtg		golgin A4							74.0	75.0	74.0					3																	37366393		2203	4300	6503	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37366393A>G	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.3016A>G	3.37:g.37366393A>G	ENSP00000354486:p.Met1006Val					GOLGA4_ENST00000356847.4_Missense_Mutation_p.M1028V|GOLGA4_ENST00000444882.1_Intron	p.M1006V	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN			14	3390	+			1006			Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.3016A>G	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	A	14.76	2.631592	0.46944	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000429018;ENST00000437131	T;T;T	0.28454	1.62;1.61;1.63	5.15	5.15	0.70609	.	0.000000	0.44285	D	0.000480	T	0.51449	0.1675	L	0.59436	1.845	0.51482	D	0.999925	D;D;D;P	0.89917	1.0;0.998;0.998;0.695	D;D;D;B	0.83275	0.996;0.994;0.991;0.369	T	0.49606	-0.8922	10	0.44086	T	0.13	.	15.0015	0.71476	1.0:0.0:0.0:0.0	.	1006;1006;1028;1006	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	V	1006;1028;567;877	ENSP00000354486:M1006V;ENSP00000349305:M1028V;ENSP00000405842:M877V	ENSP00000349305:M1028V	M	+	1	0	GOLGA4	37341397	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.899000	0.69846	1.957000	0.56846	0.454000	0.30748	ATG		0.388	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		22	43	0	0	0	1	0	22	43				
TBC1D3P2	440452	broad.mit.edu	37	17	60342197	60342197	+	RNA	SNP	T	T	C			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr17:60342197T>C	ENST00000581291.1	-	0	1956									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						TGGGAGGGGCTGGGCATGGTT	0.488																																						ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														0							g.chr17:60342197T>C			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342197T>C														0	1956	-									RNA	SNP	ENST00000581291.1	37																																																																																						0.488	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		3	18	0	0	0	1	0	3	18				
PMEL	6490	broad.mit.edu	37	12	56355130	56355130	+	Missense_Mutation	SNP	A	A	T			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr12:56355130A>T	ENST00000548747.1	-	3	967	c.305T>A	c.(304-306)gTt>gAt	p.V102D	PMEL_ENST00000449260.2_Missense_Mutation_p.V102D|PMEL_ENST00000548493.1_Missense_Mutation_p.V102D|PMEL_ENST00000552882.1_Missense_Mutation_p.V102D|PMEL_ENST00000548689.1_5'UTR|PMEL_ENST00000539511.1_Intron|PMEL_ENST00000550464.1_Intron|PMEL_ENST00000536427.1_Missense_Mutation_p.V102D|PMEL_ENST00000550447.1_Missense_Mutation_p.V65D|PMEL_ENST00000360714.4_Missense_Mutation_p.V102D			P40967	PMEL_HUMAN	premelanosome protein	102					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GACCCAGATAACCTGCCCATC	0.483																																						ENST00000548747.1																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(304-306)gTt>gAt		premelanosome protein							193.0	169.0	177.0					12																	56355130		2203	4300	6503	SO:0001583	missense	6490				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding	g.chr12:56355130A>T	AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"""silver (mouse homolog) like"", ""silver homolog (mouse)"""	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.305T>A	12.37:g.56355130A>T	ENSP00000448828:p.Val102Asp					PMEL_ENST00000550447.1_Missense_Mutation_p.V65D|PMEL_ENST00000548493.1_Missense_Mutation_p.V102D|PMEL_ENST00000539511.1_Intron|PMEL_ENST00000449260.2_Missense_Mutation_p.V102D|PMEL_ENST00000550464.1_Intron|PMEL_ENST00000360714.4_Missense_Mutation_p.V102D|PMEL_ENST00000552882.1_Missense_Mutation_p.V102D|PMEL_ENST00000536427.1_Missense_Mutation_p.V102D|PMEL_ENST00000548689.1_5'UTR	p.V102D			P40967	PMEL_HUMAN			3	967	-			102					B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Missense_Mutation	SNP	ENST00000548747.1	37	c.305T>A	CCDS8897.1	.	.	.	.	.	.	.	.	.	.	a	17.95	3.512994	0.64522	.	.	ENSG00000185664	ENST00000449260;ENST00000552882;ENST00000548747;ENST00000548493;ENST00000360714;ENST00000536427;ENST00000550447;ENST00000548803;ENST00000547137;ENST00000549418;ENST00000549233	T;T;T;T;T;T;T;T	0.39592	2.56;2.59;2.59;2.59;2.56;2.27;1.07;2.05	5.15	5.15	0.70609	.	0.149237	0.31427	N	0.007671	T	0.60366	0.2263	M	0.70275	2.135	0.80722	D	1	D;D	0.67145	0.996;0.994	P;P	0.61201	0.885;0.771	T	0.65508	-0.6151	10	0.87932	D	0	-10.8167	14.2725	0.66159	1.0:0.0:0.0:0.0	.	102;102	P40967-2;P40967	.;PMEL_HUMAN	D	102;102;102;102;102;102;65;102;102;102;105	ENSP00000402758:V102D;ENSP00000449690:V102D;ENSP00000448828:V102D;ENSP00000447374:V102D;ENSP00000353940:V102D;ENSP00000438695:V102D;ENSP00000447732:V102D;ENSP00000448849:V102D	ENSP00000353940:V102D	V	-	2	0	PMEL	54641397	1.000000	0.71417	0.987000	0.45799	0.844000	0.47949	7.766000	0.85320	2.070000	0.61991	0.523000	0.50628	GTT		0.483	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409626.1	NM_006928		27	36	0	0	0	1	0	27	36				
ITPKB	3707	broad.mit.edu	37	1	226923861	226923861	+	Silent	SNP	G	G	A	rs550313561		TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr1:226923861G>A	ENST00000272117.3	-	1	1298	c.1299C>T	c.(1297-1299)ggC>ggT	p.G433G	ITPKB_ENST00000366784.1_Silent_p.G433G|ITPKB_ENST00000429204.1_Silent_p.G433G			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	433					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				AACGCCCCCCGCCCACGGGGG	0.706																																					Colon(84;110 1851 5306 33547)	ENST00000429204.1																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30						c.(1297-1299)ggC>ggT		inositol-trisphosphate 3-kinase B							14.0	18.0	17.0					1																	226923861		2101	4226	6327	SO:0001819	synonymous_variant	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226923861G>A	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.1299C>T	1.37:g.226923861G>A						ITPKB_ENST00000366784.1_Silent_p.G433G|ITPKB_ENST00000272117.3_Silent_p.G433G	p.G433G	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN			2	1626	-		Prostate(94;0.0773)	433					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Silent	SNP	ENST00000272117.3	37	c.1299C>T	CCDS1555.1																																																																																				0.706	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		14	16	0	0	0	1	0	14	16				
CCDC157	550631	broad.mit.edu	37	22	30762129	30762129	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr22:30762129C>G	ENST00000405659.1	+	3	849	c.140C>G	c.(139-141)gCc>gGc	p.A47G	CCDC157_ENST00000399824.2_Missense_Mutation_p.A47G|CCDC157_ENST00000338306.3_Missense_Mutation_p.A47G			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	47										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						GACCGCATGGCCTGTGACCTC	0.652																																						ENST00000405659.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						c.(139-141)gCc>gGc		coiled-coil domain containing 157							147.0	131.0	137.0					22																	30762129		2203	4300	6503	SO:0001583	missense	550631							g.chr22:30762129C>G	BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.140C>G	22.37:g.30762129C>G	ENSP00000385357:p.Ala47Gly					CCDC157_ENST00000399824.2_Missense_Mutation_p.A47G|CCDC157_ENST00000338306.3_Missense_Mutation_p.A47G	p.A47G			Q569K6	CC157_HUMAN			3	849	+			47					Q0VD76|Q9BYA4	Missense_Mutation	SNP	ENST00000405659.1	37	c.140C>G	CCDS33632.2	.	.	.	.	.	.	.	.	.	.	C	32	5.116789	0.94385	.	.	ENSG00000187860	ENST00000399824;ENST00000405659;ENST00000338306;ENST00000445005;ENST00000430839	T;T;T;T;T	0.49432	0.78;1.59;1.59;1.21;1.2	5.25	5.25	0.73442	.	.	.	.	.	T	0.50633	0.1627	L	0.54323	1.7	0.80722	D	1	D	0.55605	0.972	P	0.45639	0.488	T	0.56074	-0.8039	9	0.62326	D	0.03	-15.2204	17.3819	0.87407	0.0:1.0:0.0:0.0	.	47	Q569K6	CC157_HUMAN	G	47	ENSP00000382720:A47G;ENSP00000385357:A47G;ENSP00000343087:A47G;ENSP00000387491:A47G;ENSP00000401837:A47G	ENSP00000343087:A47G	A	+	2	0	CCDC157	29092129	1.000000	0.71417	0.999000	0.59377	0.867000	0.49689	7.189000	0.77747	2.613000	0.88420	0.455000	0.32223	GCC		0.652	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320936.1	NM_001017437		34	72	0	0	0	1	0	34	72				
METTL13	51603	broad.mit.edu	37	1	171753487	171753487	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr1:171753487G>A	ENST00000361735.3	+	2	1027	c.761G>A	c.(760-762)tGg>tAg	p.W254*	METTL13_ENST00000362019.3_Nonsense_Mutation_p.W168*|METTL13_ENST00000458517.1_Nonsense_Mutation_p.W253*|METTL13_ENST00000367737.5_Intron	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	254							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						CAGTATGCCTGGCTGTGCAGC	0.667																																						ENST00000361735.3																			0				breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						c.(760-762)tGg>tAg		methyltransferase like 13							27.0	27.0	27.0					1																	171753487		2202	4299	6501	SO:0001587	stop_gained	51603						methyltransferase activity|protein binding	g.chr1:171753487G>A	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.761G>A	1.37:g.171753487G>A	ENSP00000354920:p.Trp254*					METTL13_ENST00000458517.1_Nonsense_Mutation_p.W253*|METTL13_ENST00000362019.3_Nonsense_Mutation_p.W168*|METTL13_ENST00000367737.5_Intron	p.W254*	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN			2	1027	+			254					A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Nonsense_Mutation	SNP	ENST00000361735.3	37	c.761G>A	CCDS1299.1	.	.	.	.	.	.	.	.	.	.	G	37	6.488209	0.97607	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000361735;ENST00000367736;ENST00000341850	.	.	.	5.33	5.33	0.75918	.	0.135798	0.50627	D	0.000120	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-21.8011	12.0398	0.53446	0.0:0.0:0.7118:0.2882	.	.	.	.	X	253;168;254;171;168	.	ENSP00000341732:W168X	W	+	2	0	METTL13	170020110	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.447000	0.73465	2.465000	0.83290	0.655000	0.94253	TGG		0.667	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955		14	23	0	0	0	1	0	14	23				
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-	rs372504208		TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cccfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		2	Deletion - Frameshift(2)	p.P6fs*27(2)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(16-18)cfs		notch 2																																				SO:0001589	frameshift_variant	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120612003_120612004delGG	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.17_18delCC	1.37:g.120612005_120612006delGG	ENSP00000256646:p.Pro6fs						p.P6fs	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	236_237	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	6					Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	ENST00000256646.2	37	c.17_18delCC	CCDS908.1																																																																																				0.762	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		3	6						3	6	---	---	---	---
IL24	11009	broad.mit.edu	37	1	207072830	207072830	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr1:207072830G>A	ENST00000294984.2	+	3	484	c.210G>A	c.(208-210)tgG>tgA	p.W70*	IL24_ENST00000367093.3_Nonsense_Mutation_p.W71*|IL24_ENST00000491169.1_Intron|IL24_ENST00000391929.3_Nonsense_Mutation_p.W71*	NM_001185156.1|NM_006850.3	NP_001172085.1|NP_006841.1	Q13007	IL24_HUMAN	interleukin 24	70					apoptotic process (GO:0006915)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|serine phosphorylation of STAT3 protein (GO:0033136)|wound healing (GO:0042060)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12	Breast(84;0.201)					AGAAACTGTGGGAAGCCTTCT	0.592																																						ENST00000367093.3																			0				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(211-213)tgG>tgA		interleukin 24							63.0	68.0	66.0					1																	207072830		2203	4300	6503	SO:0001587	stop_gained	11009				apoptosis	extracellular space	cytokine activity	g.chr1:207072830G>A	U16261	CCDS1471.1, CCDS53465.1, CCDS53466.1, CCDS73021.1	1q32	2011-07-15		2001-06-29	ENSG00000162892	ENSG00000162892		"""Interleukins and interleukin receptors"""	11346	protein-coding gene	gene with protein product	"""melanoma differentiation association protein 7"", ""suppression of tumorigenicity 16 (melanoma differentiation)"", ""IL-4-induced secreted protein"""	604136		ST16		8545104, 8799171	Standard	NM_001185156		Approved	mda-7, IL10B, Mob-5, C49A, FISP, IL-24	uc001heu.2	Q13007	OTTHUMG00000036459	ENST00000294984.2:c.210G>A	1.37:g.207072830G>A	ENSP00000294984:p.Trp70*					IL24_ENST00000391929.3_Nonsense_Mutation_p.W71*|IL24_ENST00000491169.1_Intron|IL24_ENST00000294984.2_Nonsense_Mutation_p.W70*	p.W71*	NM_001185157.1|NM_001185158.1	NP_001172086.1|NP_001172087.1	Q13007	IL24_HUMAN			3	487	+	Breast(84;0.201)		70					Q2YHE5|Q53XZ7|Q5YLN8|Q96DB0|Q96KG4	Nonsense_Mutation	SNP	ENST00000294984.2	37	c.213G>A	CCDS1471.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.649745	0.87958	.	.	ENSG00000162892	ENST00000391929;ENST00000294984;ENST00000367093	.	.	.	4.26	2.39	0.29439	.	0.314072	0.31760	N	0.007111	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	6.6682	0.23054	0.2173:0.0:0.7827:0.0	.	.	.	.	X	71;70;71	.	ENSP00000294984:W70X	W	+	3	0	IL24	205139453	1.000000	0.71417	0.014000	0.15608	0.221000	0.24807	3.700000	0.54786	0.557000	0.29117	-0.251000	0.11542	TGG		0.592	IL24-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088680.2	NM_006850		19	58	0	0	0	1	0	19	58				
HSPD1P6	645548	broad.mit.edu	37	3	36810381	36810381	+	RNA	DEL	T	T	-			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr3:36810381delT	ENST00000424886.1	-	0	405									heat shock 60kDa protein 1 (chaperonin) pseudogene 6																		GAGTGAGGCCttttttttttt	0.542																																						ENST00000424886.1																			0																																																			0							g.chr3:36810381delT			3p22.3	2010-06-25	2002-08-29	2008-09-22	ENSG00000230067	ENSG00000230067			5267	pseudogene	pseudogene			"""heat shock 60kD protein 1 (chaperonin) pseudogene 6"""	HSPDP6			Standard	NG_008828		Approved	HSPD1-6P			OTTHUMG00000155803		3.37:g.36810381delT														0	405	-									RNA	DEL	ENST00000424886.1	37																																																																																						0.542	HSPD1P6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341724.1	XR_017400		3	6						3	6	---	---	---	---
LINC00971	440970	broad.mit.edu	37	3	84741413	84741413	+	lincRNA	DEL	T	T	-			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr3:84741413delT	ENST00000484892.1	-	0	2354					NR_033860.1				long intergenic non-protein coding RNA 971																		CTCATGGATGTTTTCCTCCTA	0.398																																						ENST00000484892.1																			0																																																			0							g.chr3:84741413delT			3p12.1	2013-06-07			ENSG00000242641	ENSG00000242641		"""Long non-coding RNAs"""	48737	non-coding RNA	RNA, long non-coding							Standard	NR_033860		Approved				OTTHUMG00000158981		3.37:g.84741413delT								NR_033860.1						0	2354	-									RNA	DEL	ENST00000484892.1	37																																																																																						0.398	LINC00971-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000352776.2			2	4						2	4	---	---	---	---
LINC00969	440993	broad.mit.edu	37	3	195400918	195400919	+	lincRNA	INS	-	-	T	rs55992531|rs397933710		TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr3:195400918_195400919insT	ENST00000445430.1	+	0	1454									long intergenic non-protein coding RNA 969																		AGTCttttttctttttttttga	0.525																																						ENST00000445430.1																			0																																																			0							g.chr3:195400918_195400919insT	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400927_195400927dupT														0	1454	+									RNA	INS	ENST00000445430.1	37																																																																																						0.525	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	6						3	6	---	---	---	---
ZFR	51663	broad.mit.edu	37	5	32444350	32444352	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr5:32444350_32444352delGCC	ENST00000265069.8	-	2	222_224	c.120_122delGGC	c.(118-123)gcggct>gct	p.40_41AA>A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	40	Ala-rich.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TTGGgccgcagccgccgccgccg	0.68																																						ENST00000265069.8																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(118-123)gct>gc		zinc finger RNA binding protein				118,3428		11,96,1666						1.3	1.0			14	258,6868		26,206,3331	no	coding	ZFR	NM_016107.3		37,302,4997	A1A1,A1R,RR		3.6205,3.3277,3.5232				376,10296				SO:0001651	inframe_deletion	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32444350_32444352delGCC	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.120_122delGGC	5.37:g.32444359_32444361delGCC	ENSP00000265069:p.Ala43del						p.AA42del	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	2	222_224	-			42			Ala-rich.		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	In_Frame_Del	DEL	ENST00000265069.8	37	c.120_122delGGC	CCDS34139.1																																																																																				0.680	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			2	4						2	4	---	---	---	---
MYO6	4646	broad.mit.edu	37	6	76599857	76599858	+	Frame_Shift_Ins	INS	-	-	A	rs551348450	byFrequency	TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr6:76599857_76599858insA	ENST00000369977.3	+	26	2881_2882	c.2742_2743insA	c.(2743-2745)aaafs	p.K915fs	MYO6_ENST00000369975.1_Frame_Shift_Ins_p.K915fs|MYO6_ENST00000369981.3_Frame_Shift_Ins_p.K915fs|MYO6_ENST00000369985.4_Frame_Shift_Ins_p.K915fs	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	915					actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)	p.K917fs*10(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GTGCATTACAGAAAAAAAAACA	0.381													AAAAAAAAA|AAAAAAAAA|AAAAAAAAAA|insertion	18	0.00359425	0.0083	0.0014	5008	,	,		16538	0.0		0.0	False		,,,				2504	0.0061					ENST00000369981.3																			1	Deletion - Frameshift(1)	p.K917fs*10(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2740-2745)caaaaafs		myosin VI				9,4255		0,9,2123						5.8	1.0			86	31,8223		0,31,4096	no	frameshift	MYO6	NM_004999.3		0,40,6219	A1A1,A1R,RR		0.3756,0.2111,0.3195				40,12478				SO:0001589	frameshift_variant	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76599857_76599858insA	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.2751dupA	6.37:g.76599866_76599866dupA	ENSP00000358994:p.Lys915fs					MYO6_ENST00000369985.4_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369977.3_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369975.1_Frame_Shift_Ins_p.QK914fs	p.QK914fs			Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	26	3021_3022	+		all_hematologic(105;0.189)	914					A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Frame_Shift_Ins	INS	ENST00000369977.3	37	c.2742_2743insA	CCDS34487.1																																																																																				0.381	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		7	61						7	61	---	---	---	---
DMTF1	9988	broad.mit.edu	37	7	86808992	86808994	+	In_Frame_Del	DEL	GTA	GTA	-			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr7:86808992_86808994delGTA	ENST00000394703.5	+	10	1214_1216	c.651_653delGTA	c.(649-654)atgtat>att	p.217_218MY>I	DMTF1_ENST00000411766.2_In_Frame_Del_p.176_177MY>I|DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000413276.2_In_Frame_Del_p.217_218MY>I|DMTF1_ENST00000331242.7_In_Frame_Del_p.217_218MY>I|DMTF1_ENST00000394702.3_In_Frame_Del_p.217_218MY>I|DMTF1_ENST00000432937.2_In_Frame_Del_p.129_130MY>I	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	217	Interaction with CCND1, CCND2 and CCND3. {ECO:0000250}.|Interaction with CCND2. {ECO:0000250}.|Required for DNA-binding. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					TGCTTCGCATGTATGATGACAGA	0.374																																						ENST00000394703.5																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16						c.(649-654)att>at		cyclin D binding myb-like transcription factor 1																																				SO:0001651	inframe_deletion	9988				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:86808992_86808994delGTA	AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"""cyclin D-binding Myb-like protein"""	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.651_653delGTA	7.37:g.86808992_86808994delGTA	ENSP00000378193:p.Met217_Tyr218delinsIle					DMTF1_ENST00000331242.7_In_Frame_Del_p.MY217del|DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000413276.2_In_Frame_Del_p.MY217del|DMTF1_ENST00000432937.2_In_Frame_Del_p.MY129del|DMTF1_ENST00000394702.3_In_Frame_Del_p.MY217del|DMTF1_ENST00000411766.2_In_Frame_Del_p.MY176del	p.MY217del	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN			10	1214_1216	+	Esophageal squamous(14;0.0058)		217			Interaction with CCND1, CCND2 and CCND3 (By similarity).|Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	In_Frame_Del	DEL	ENST00000394703.5	37	c.651_653delGTA	CCDS5601.1																																																																																				0.374	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	NM_021145		12	101						12	101	---	---	---	---
CEP290	80184	broad.mit.edu	37	12	88512275	88512275	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr12:88512275delT	ENST00000552810.1	-	17	2039	c.1696delA	c.(1696-1698)agafs	p.R566fs	CEP290_ENST00000309041.7_Frame_Shift_Del_p.R568fs|CEP290_ENST00000397838.3_5'UTR	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	566					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						GTTGCACTTCTTTTTCCTCTT	0.299																																						ENST00000552810.1																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						c.(1696-1698)gafs		centrosomal protein 290kDa							61.0	55.0	57.0					12																	88512275		1794	4049	5843	SO:0001589	frameshift_variant	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88512275delT	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.1696delA	12.37:g.88512275delT	ENSP00000448012:p.Arg566fs					CEP290_ENST00000309041.7_Frame_Shift_Del_p.R568fs|CEP290_ENST00000397838.3_5'UTR	p.R566fs	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN			17	2039	-			566					Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Frame_Shift_Del	DEL	ENST00000552810.1	37	c.1696delA	CCDS55858.1																																																																																				0.299	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		2	4						2	4	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11058447	11058450	+	RNA	DEL	AAAC	AAAC	-	rs369577187		TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chr21:11058447_11058450delAAAC	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCAAAATATTAAACAAAGGATTCG	0.294																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11058447_11058450delAAAC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058447_11058450delAAAC												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.294	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		2	4						2	4	---	---	---	---
ZFY	7544	broad.mit.edu	37	Y	2844776	2844778	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-ZG-A9LM-01A-11D-A41K-08	TCGA-ZG-A9LM-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0645a-3e19-4a87-b182-a77e3ca3eab6	fde485ee-fc50-4398-a1f7-06e84028479a	g.chrY:2844776_2844778delGCA	ENST00000155093.3	+	6	1315_1317	c.994_996delGCA	c.(994-996)gcadel	p.A337del	ZFY-AS1_ENST00000417305.1_RNA|ZFY_ENST00000431102.1_In_Frame_Del_p.A146del|ZFY_ENST00000449237.1_Intron|ZFY_ENST00000383052.1_In_Frame_Del_p.A337del	NM_003411.3	NP_003402.2	P08048	ZFY_HUMAN	zinc finger protein, Y-linked	337					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3)	8						TGCTGCTGTTGCAGCAGCAGCAG	0.399																																						ENST00000155093.3																			0				biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3)	8						c.(994-996)del		zinc finger protein, Y-linked																																				SO:0001651	inframe_deletion	7544				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrY:2844776_2844778delGCA	L10393	CCDS14774.1, CCDS48200.1, CCDS48201.1	Yp11.3	2013-01-08			ENSG00000067646	ENSG00000067646		"""Zinc fingers, C2H2-type"""	12870	protein-coding gene	gene with protein product		490000				2497060	Standard	NM_001145275		Approved	ZNF911	uc004fqj.3	P08048	OTTHUMG00000036159	ENST00000155093.3:c.994_996delGCA	Y.37:g.2844785_2844787delGCA	ENSP00000155093:p.Ala337del					ZFY_ENST00000431102.1_In_Frame_Del_p.A146del|ZFY_ENST00000449237.1_Intron|ZFY_ENST00000383052.1_In_Frame_Del_p.A337del|ZFY-AS1_ENST00000417305.1_RNA	p.A337del	NM_003411.3	NP_003402.2	P08048	ZFY_HUMAN			6	1315_1317	+			337					B4DVF7|Q14021|Q15558|Q1RME9|Q24JR0|Q96TF3	In_Frame_Del	DEL	ENST00000155093.3	37	c.994_996delGCA	CCDS14774.1																																																																																				0.399	ZFY-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088063.1	NM_003411		2	4						2	4	---	---	---	---
