#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
RASGRP2	10235	broad.mit.edu	37	11	64494798	64494798	+	Missense_Mutation	SNP	A	A	T			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr11:64494798A>T	ENST00000354024.3	-	16	2058	c.1806T>A	c.(1804-1806)gaT>gaA	p.D602E	RASGRP2_ENST00000377497.3_Missense_Mutation_p.D602E|RASGRP2_ENST00000394432.3_Missense_Mutation_p.D602E|RASGRP2_ENST00000377494.1_Missense_Mutation_p.D603E	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	602					blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CAAACACCCCATCCTCCACCG	0.592																																						ENST00000377494.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1807-1809)gaT>gaA		RAS guanyl releasing protein 2 (calcium and DAG-regulated)							148.0	106.0	120.0					11																	64494798		2201	4297	6498	SO:0001583	missense	10235				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity	g.chr11:64494798A>T	U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"""EF-hand domain containing"""	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.1806T>A	11.37:g.64494798A>T	ENSP00000338864:p.Asp602Glu					RASGRP2_ENST00000377497.3_Missense_Mutation_p.D602E|RASGRP2_ENST00000394432.3_Missense_Mutation_p.D602E|RASGRP2_ENST00000354024.3_Missense_Mutation_p.D602E	p.D603E			Q7LDG7	GRP2_HUMAN			15	2731	-			602					A6NDC7|O00538|Q9UL65	Missense_Mutation	SNP	ENST00000354024.3	37	c.1809T>A	CCDS31598.1	.	.	.	.	.	.	.	.	.	.	A	10.60	1.394853	0.25205	.	.	ENSG00000068831	ENST00000377494;ENST00000394432;ENST00000377497;ENST00000354024	T;T;T;T	0.71579	-0.57;-0.58;-0.58;-0.58	5.54	-11.1	0.00147	.	0.377447	0.26130	N	0.026177	T	0.50514	0.1620	N	0.14661	0.345	0.80722	D	1	B;B	0.20261	0.043;0.043	B;B	0.15870	0.014;0.014	T	0.42464	-0.9450	10	0.72032	D	0.01	-24.3728	23.5442	0.99984	0.2015:0.0:0.7985:0.0	.	602;603	Q7LDG7;A6NDC7	GRP2_HUMAN;.	E	603;602;602;602	ENSP00000366714:D603E;ENSP00000377953:D602E;ENSP00000366717:D602E;ENSP00000338864:D602E	ENSP00000338864:D602E	D	-	3	2	RASGRP2	64251374	0.000000	0.05858	0.049000	0.19019	0.226000	0.24999	-4.331000	0.00251	-2.635000	0.00432	-0.411000	0.06167	GAT		0.592	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142062.1	NM_153819		4	80	0	0	0	1	0	4	80				
GBA	2629	broad.mit.edu	37	1	155207218	155207218	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr1:155207218G>A	ENST00000327247.5	-	8	1145	c.913C>T	c.(913-915)Cct>Tct	p.P305S	GBA_ENST00000493842.1_5'Flank|GBA_ENST00000428024.3_Missense_Mutation_p.P218S|AL713999.1_ENST00000401290.1_RNA|GBA_ENST00000368373.3_Missense_Mutation_p.P305S|GBA_ENST00000536770.1_Missense_Mutation_p.P192S|GBA_ENST00000427500.3_Missense_Mutation_p.P256S	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	305			P -> R (in GD; mild).		carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Velaglucerase alfa(DB06720)	GCGAGGGTAGGACCTAGGTCA	0.572									Gaucher disease type I																													ENST00000428024.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	GRCh37	CM057095	GBA	M		c.(652-654)Cct>Tct		glucosidase, beta, acid	Alglucerase(DB00088)|Imiglucerase(DB00053)						145.0	118.0	127.0					1																	155207218		2203	4300	6503	SO:0001583	missense	2629	Gaucher disease type I	Familial Cancer Database	glucocerebrosidase insufficiency	carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding	g.chr1:155207218G>A	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"""glucosylceramidase"", ""glucosidase, beta; acid (includes glucosylceramidase)"""	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.913C>T	1.37:g.155207218G>A	ENSP00000314508:p.Pro305Ser					GBA_ENST00000327247.5_Missense_Mutation_p.P305S|GBA_ENST00000427500.2_Missense_Mutation_p.P256S|GBA_ENST00000536770.1_Missense_Mutation_p.P192S|GBA_ENST00000368373.3_Missense_Mutation_p.P305S	p.P218S	NM_001171811.1	NP_001165282.1	P04062	GLCM_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		6	1154	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		305					A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Missense_Mutation	SNP	ENST00000327247.5	37	c.652C>T	CCDS1102.1	.	.	.	.	.	.	.	.	.	.	.	17.50	3.404367	0.62288	.	.	ENSG00000177628	ENST00000427500;ENST00000428024;ENST00000368373;ENST00000327247;ENST00000536770;ENST00000536555;ENST00000402928	D;D;D;D;D	0.99695	-6.43;-6.43;-6.43;-6.43;-6.43	3.51	3.51	0.40186	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.64402	D	0.000001	D	0.99687	0.9882	M	0.91717	3.235	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.998	D	0.97680	1.0172	10	0.87932	D	0	-11.7654	10.6675	0.45739	0.0:0.0:1.0:0.0	.	256;192;305	B7Z5G2;F5H241;P04062	.;.;GLCM_HUMAN	S	256;218;305;305;192;262;290	ENSP00000402577:P256S;ENSP00000397986:P218S;ENSP00000357357:P305S;ENSP00000314508:P305S;ENSP00000445560:P192S	ENSP00000314508:P305S	P	-	1	0	GBA	153473842	1.000000	0.71417	0.812000	0.32479	0.492000	0.33523	8.739000	0.91574	1.948000	0.56530	0.313000	0.20887	CCT		0.572	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087204.1	NM_000157		14	40	0	0	0	1	0	14	40				
KLHL42	57542	broad.mit.edu	37	12	27950726	27950726	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr12:27950726G>A	ENST00000381271.2	+	3	1456	c.1145G>A	c.(1144-1146)cGc>cAc	p.R382H	RP11-860B13.3_ENST00000543527.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	382					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											GTCCACATTCGCAAGCAGCAG	0.542																																						ENST00000381271.2																			0											c.(1144-1146)cGc>cAc		kelch-like family member 42							159.0	154.0	156.0					12																	27950726		2203	4300	6503	SO:0001583	missense	57542							g.chr12:27950726G>A	AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"""Kelch-like"""	29252	protein-coding gene	gene with protein product			"""kelch domain containing 5"""	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.1145G>A	12.37:g.27950726G>A	ENSP00000370671:p.Arg382His						p.R382H	NM_020782.1	NP_065833.1					3	1456	+								Q2VPK1|Q8N334	Missense_Mutation	SNP	ENST00000381271.2	37	c.1145G>A	CCDS31763.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536505	0.85812	.	.	ENSG00000087448	ENST00000381271	T	0.67523	-0.27	5.29	5.29	0.74685	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.78616	0.4311	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.73297	-0.4027	10	0.15066	T	0.55	.	17.9151	0.88947	0.0:0.0:1.0:0.0	.	382	Q9P2K6	KLDC5_HUMAN	H	382	ENSP00000370671:R382H	ENSP00000370671:R382H	R	+	2	0	KLHDC5	27841993	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.193000	0.94954	2.452000	0.82932	0.561000	0.74099	CGC		0.542	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782		6	279	0	0	0	1	0	6	279				
DMC1	11144	broad.mit.edu	37	22	38916082	38916082	+	Silent	SNP	A	A	T			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr22:38916082A>T	ENST00000216024.2	-	14	1242	c.966T>A	c.(964-966)ccT>ccA	p.P322P	DMC1_ENST00000428462.2_Silent_p.P267P	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	322					female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome (GO:0005694)|chromosome, telomeric region (GO:0000781)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					CTTCATTTTCAGGCATCTCAG	0.403								Homologous recombination																														ENST00000216024.2																			0				large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(964-966)ccT>ccA	Homologous recombination	DNA meiotic recombinase 1							107.0	99.0	102.0					22																	38916082		2203	4300	6503	SO:0001819	synonymous_variant	11144				reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding	g.chr22:38916082A>T	D63882	CCDS13973.1, CCDS63477.1	22q13.1	2013-05-02	2013-05-02		ENSG00000100206	ENSG00000100206			2927	protein-coding gene	gene with protein product		602721	"""DMC1 (dosage suppressor of mck1, yeast homolog) meiosis-specific homologous recombination"", ""DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)"""			8602360, 8590282, 17541404	Standard	NM_007068		Approved	LIM15	uc003avz.2	Q14565	OTTHUMG00000151088	ENST00000216024.2:c.966T>A	22.37:g.38916082A>T						DMC1_ENST00000428462.2_Silent_p.P267P	p.P322P	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN			14	1242	-	Melanoma(58;0.0286)		322					A8K9A2|B4DMW6|Q08AI1|Q99498|Q9UH11	Silent	SNP	ENST00000216024.2	37	c.966T>A	CCDS13973.1																																																																																				0.403	DMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321246.2	NM_007068		3	53	0	0	0	1	0	3	53				
SIPA1L3	23094	broad.mit.edu	37	19	38643532	38643532	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr19:38643532G>C	ENST00000222345.6	+	13	4095	c.3586G>C	c.(3586-3588)Gat>Cat	p.D1196H		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1196					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTTCAGCCACGATGGGACGTC	0.632																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(3586-3588)Gat>Cat		signal-induced proliferation-associated 1 like 3							136.0	126.0	129.0					19																	38643532		2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38643532G>C	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.3586G>C	19.37:g.38643532G>C	ENSP00000222345:p.Asp1196His						p.D1196H	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		13	4095	+			1196					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.3586G>C	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.410921	0.62399	.	.	ENSG00000105738	ENST00000222345	T	0.44881	0.91	5.2	5.2	0.72013	.	0.254436	0.37483	N	0.002064	T	0.39279	0.1072	L	0.29908	0.895	0.52099	D	0.999941	P	0.50710	0.938	P	0.46299	0.511	T	0.35847	-0.9772	10	0.72032	D	0.01	-18.7771	15.6558	0.77133	0.0:0.0:1.0:0.0	.	1196	O60292	SI1L3_HUMAN	H	1196	ENSP00000222345:D1196H	ENSP00000222345:D1196H	D	+	1	0	SIPA1L3	43335372	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.546000	0.67243	2.430000	0.82344	0.467000	0.42956	GAT		0.632	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		5	137	0	0	0	1	0	5	137				
HTT	3064	broad.mit.edu	37	4	3214432	3214432	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr4:3214432T>G	ENST00000355072.5	+	49	6915	c.6770T>G	c.(6769-6771)cTt>cGt	p.L2257R		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2257					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GTGGCAACCCTTGAGGTAAGA	0.527																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(6769-6771)cTt>cGt		huntingtin							87.0	90.0	89.0					4																	3214432		1986	4160	6146	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3214432T>G	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.6770T>G	4.37:g.3214432T>G	ENSP00000347184:p.Leu2257Arg						p.L2257R	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	49	6915	+		all_epithelial(65;0.18)	2257					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.6770T>G	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	T	11.09	1.537812	0.27475	.	.	ENSG00000197386	ENST00000355072	T	0.09255	3.0	5.51	5.51	0.81932	.	0.467264	0.21529	N	0.073080	T	0.14960	0.0361	L	0.53249	1.67	0.09310	N	1	P	0.34837	0.472	B	0.35470	0.203	T	0.10268	-1.0637	10	0.87932	D	0	.	15.6241	0.76840	0.0:0.0:0.0:1.0	.	2257	P42858	HD_HUMAN	R	2257	ENSP00000347184:L2257R	ENSP00000347184:L2257R	L	+	2	0	HTT	3184230	0.303000	0.24463	0.029000	0.17559	0.362000	0.29581	3.928000	0.56506	2.083000	0.62718	0.496000	0.49642	CTT		0.527	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		4	62	0	0	0	1	0	4	62				
HIST1H2BD	3017	broad.mit.edu	37	6	26158564	26158564	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr6:26158564C>G	ENST00000289316.2	+	1	191	c.167C>G	c.(166-168)tCt>tGt	p.S56C	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.S56C	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	56					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						ACCGGCATCTCTTCCAAGGCA	0.567																																						ENST00000289316.2																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						c.(166-168)tCt>tGt		histone cluster 1, H2bd							198.0	184.0	188.0					6																	26158564		2203	4300	6503	SO:0001583	missense	3017				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26158564C>G	M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"""Histones / Replication-dependent"""	4747	protein-coding gene	gene with protein product		602799	"""H2B histone family, member B"", ""histone 1, H2bd"""	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.167C>G	6.37:g.26158564C>G	ENSP00000289316:p.Ser56Cys					HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.S56C	p.S56C	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN			1	191	+			56						Missense_Mutation	SNP	ENST00000289316.2	37	c.167C>G	CCDS4587.1	.	.	.	.	.	.	.	.	.	.	.	17.37	3.371665	0.61624	.	.	ENSG00000158373	ENST00000377777;ENST00000289316	T;T	0.73789	-0.78;-0.78	5.19	4.3	0.51218	Histone-fold (2);Histone core (1);	0.000000	0.37906	N	0.001894	D	0.89146	0.6632	H	0.99626	4.665	0.39139	D	0.962005	D	0.65815	0.995	P	0.59221	0.854	D	0.92884	0.6325	10	0.87932	D	0	.	12.2024	0.54333	0.0:0.8519:0.0:0.1481	.	56	P58876	H2B1D_HUMAN	C	56	ENSP00000367008:S56C;ENSP00000289316:S56C	ENSP00000289316:S56C	S	+	2	0	HIST1H2BD	26266543	1.000000	0.71417	0.995000	0.50966	0.364000	0.29643	6.043000	0.71004	1.492000	0.48499	0.650000	0.86243	TCT		0.567	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040088.1	NM_021063		4	223	0	0	0	1	0	4	223				
AC002472.1	0	broad.mit.edu	37	22	21363349	21363349	+	5'Flank	SNP	A	A	G			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr22:21363349A>G	ENST00000547793.2	-	0	0				THAP7-AS1_ENST00000452284.1_RNA|THAP7-AS1_ENST00000436079.1_RNA|TUBA3FP_ENST00000422086.1_RNA																							TATGGCACCAAGTTGGTTTGG	0.582																																						ENST00000452284.1																			0																																																	SO:0001631	upstream_gene_variant	439931							g.chr22:21363349A>G																													22.37:g.21363349A>G	Exception_encountered					TUBA3FP_ENST00000422086.1_RNA|THAP7-AS1_ENST00000436079.1_RNA		NR_027051.1						0	1016	+									RNA	SNP	ENST00000547793.2	37																																																																																						0.582	AC002472.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				4	58	0	0	0	1	0	4	58				
MTM1	4534	broad.mit.edu	37	X	149807485	149807485	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chrX:149807485G>A	ENST00000370396.2	+	7	568	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	MTM1_ENST00000413012.2_Missense_Mutation_p.E135K|MTM1_ENST00000542741.1_Missense_Mutation_p.E77K|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.E57K	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	172	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGTGGAAGAATACAGGAG	0.353																																						ENST00000370396.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(514-516)Gaa>Aaa		myotubularin 1							204.0	180.0	188.0					X																	149807485		2203	4300	6503	SO:0001583	missense	4534				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chrX:149807485G>A	U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.514G>A	X.37:g.149807485G>A	ENSP00000359423:p.Glu172Lys					MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000542741.1_Missense_Mutation_p.E77K|MTM1_ENST00000413012.2_Missense_Mutation_p.E135K|MTM1_ENST00000543350.1_Missense_Mutation_p.E57K	p.E172K	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN			7	568	+	Acute lymphoblastic leukemia(192;6.56e-05)		172			Myotubularin phosphatase.		A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	ENST00000370396.2	37	c.514G>A	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	G	34	5.338184	0.95758	.	.	ENSG00000171100	ENST00000370396;ENST00000542741;ENST00000543350;ENST00000424519;ENST00000413012	D;D;D;D;D	0.97016	-3.77;-3.77;-3.77;-4.21;-3.77	5.27	5.27	0.74061	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.99089	0.9687	H	0.99325	4.515	0.58432	D	0.999999	D;D	0.89917	0.997;1.0	D;D	0.91635	0.983;0.999	D	0.99026	1.0819	10	0.87932	D	0	.	18.1936	0.89814	0.0:0.0:1.0:0.0	.	135;172	B7Z491;Q13496	.;MTM1_HUMAN	K	172;77;57;101;135	ENSP00000359423:E172K;ENSP00000444015:E77K;ENSP00000439784:E57K;ENSP00000400699:E101K;ENSP00000389157:E135K	ENSP00000359423:E172K	E	+	1	0	MTM1	149558143	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	9.127000	0.94417	2.321000	0.78463	0.594000	0.82650	GAA		0.353	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252		4	141	0	0	0	1	0	4	141				
MAP1S	55201	broad.mit.edu	37	19	17831773	17831773	+	Silent	SNP	C	C	T			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr19:17831773C>T	ENST00000324096.4	+	2	298	c.147C>T	c.(145-147)ggC>ggT	p.G49G	MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Silent_p.G23G	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	49	Necessary for the microtubule-organizing center localization.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TCGATCCTGGCGTCTGCAACC	0.572																																						ENST00000324096.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						c.(145-147)ggC>ggT		microtubule-associated protein 1S							144.0	128.0	133.0					19																	17831773		2203	4300	6503	SO:0001819	synonymous_variant	55201				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	g.chr19:17831773C>T	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.147C>T	19.37:g.17831773C>T						MAP1S_ENST00000544059.2_Silent_p.G23G|MAP1S_ENST00000597681.1_Intron	p.G49G	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN			2	298	+			49			Necessary for the microtubule-organizing center localization.		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Silent	SNP	ENST00000324096.4	37	c.147C>T	CCDS32954.1																																																																																				0.572	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		10	176	0	0	0	1	0	10	176				
C17orf80	55028	broad.mit.edu	37	17	71232433	71232433	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr17:71232433C>T	ENST00000535032.2	+	2	925	c.812C>T	c.(811-813)cCa>cTa	p.P271L	C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000577615.1_Missense_Mutation_p.P271L|C17orf80_ENST00000359042.2_Missense_Mutation_p.P271L|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000255557.4_Missense_Mutation_p.P271L|C17orf80_ENST00000426147.2_Missense_Mutation_p.P271L|C17orf80_ENST00000268942.8_Missense_Mutation_p.P271L			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	271						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			ACTGAGACTCCAGAAAAGAAC	0.413																																						ENST00000359042.2																			0				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14						c.(811-813)cCa>cTa		chromosome 17 open reading frame 80							45.0	46.0	45.0					17																	71232433		2203	4300	6503	SO:0001583	missense	55028					integral to membrane		g.chr17:71232433C>T	AY163812	CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1	17q25.1	2012-02-24	2012-02-24	2012-02-24	ENSG00000141219	ENSG00000141219			29601	protein-coding gene	gene with protein product	"""sperm-expressed protein 1"", ""migration-inducing protein 3"""					12477932	Standard	NM_017941		Approved	HLC-8, MIG3, FLJ20721, SPEP1	uc002jjl.4	Q9BSJ5		ENST00000535032.2:c.812C>T	17.37:g.71232433C>T	ENSP00000440551:p.Pro271Leu					C17orf80_ENST00000426147.2_Missense_Mutation_p.P271L|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000577615.1_Missense_Mutation_p.P271L|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000255557.4_Missense_Mutation_p.P271L|C17orf80_ENST00000268942.8_Missense_Mutation_p.P271L|C17orf80_ENST00000535032.2_Missense_Mutation_p.P271L	p.P271L	NM_017941.4	NP_060411.2	Q9BSJ5	CQ080_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		3	1006	+			271					A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	Missense_Mutation	SNP	ENST00000535032.2	37	c.812C>T	CCDS11694.1	.	.	.	.	.	.	.	.	.	.	C	8.917	0.960047	0.18507	.	.	ENSG00000141219	ENST00000255557;ENST00000359042;ENST00000268942;ENST00000426147;ENST00000535032	D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95	4.21	-2.73	0.05950	.	1.874850	0.02257	N	0.067186	T	0.66117	0.2757	N	0.08118	0	0.09310	N	1	B;B;B;B	0.11235	0.001;0.004;0.002;0.001	B;B;B;B	0.08055	0.002;0.003;0.003;0.003	T	0.51553	-0.8691	10	0.26408	T	0.33	2.3701	0.0473	0.00010	0.304:0.1709:0.2192:0.3058	.	271;271;271;271	B7Z7E5;Q9BSJ5;Q9BSJ5-2;Q9BSJ5-3	.;CQ080_HUMAN;.;.	L	271	ENSP00000255557:P271L;ENSP00000351937:P271L;ENSP00000268942:P271L;ENSP00000396970:P271L;ENSP00000440551:P271L	ENSP00000255557:P271L	P	+	2	0	C17orf80	68744028	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	-1.598000	0.02087	-0.859000	0.04105	-0.410000	0.06199	CCA		0.413	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441893.1	NM_017941		3	32	0	0	0	1	0	3	32				
OR1J1	347168	broad.mit.edu	37	9	125239396	125239396	+	Silent	SNP	C	C	T			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr9:125239396C>T	ENST00000259357.2	-	1	839	c.810G>A	c.(808-810)aaG>aaA	p.K270K	RP11-542K23.9_ENST00000412262.2_RNA	NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						CAATTATGTTCTTGTCATTGG	0.418																																						ENST00000259357.2																			0				endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(808-810)aaG>aaA		olfactory receptor, family 1, subfamily J, member 1							158.0	152.0	154.0					9																	125239396		2203	4300	6503	SO:0001819	synonymous_variant	347168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125239396C>T	AL353767	CCDS35120.1	9q33.2	2013-09-20			ENSG00000136834	ENSG00000136834		"""GPCR / Class A : Olfactory receptors"""	8208	protein-coding gene	gene with protein product							Standard	NM_001004451		Approved	hg32	uc011lyu.2	Q8NGS3	OTTHUMG00000020603	ENST00000259357.2:c.810G>A	9.37:g.125239396C>T							p.K270K	NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN			1	839	-			270					A3KFL8|Q6IF10|Q96R88	Silent	SNP	ENST00000259357.2	37	c.810G>A	CCDS35120.1																																																																																				0.418	OR1J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053931.1			4	166	0	0	0	1	0	4	166				
PRKCB	5579	broad.mit.edu	37	16	24104120	24104120	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr16:24104120G>T	ENST00000321728.7	+	6	713	c.538G>T	c.(538-540)Gct>Tct	p.A180S	PRKCB_ENST00000303531.7_Missense_Mutation_p.A180S|PRKCB_ENST00000482000.1_3'UTR	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	180	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	AGTAAGAGATGCTAAAAACCT	0.418																																						ENST00000303531.7																			0				central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(538-540)Gct>Tct		protein kinase C, beta	Vitamin E(DB00163)						144.0	127.0	133.0					16																	24104120		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24104120G>T	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.538G>T	16.37:g.24104120G>T	ENSP00000318315:p.Ala180Ser					PRKCB_ENST00000321728.7_Missense_Mutation_p.A180S|PRKCB_ENST00000482000.1_3'UTR	p.A180S	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN			6	690	+			180			C2.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.538G>T	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	G	33	5.224129	0.95139	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.64085	-0.08;-0.08	5.18	5.18	0.71444	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.065087	0.64402	D	0.000015	T	0.80701	0.4673	M	0.91872	3.25	0.80722	D	1	D;P	0.53619	0.961;0.759	P;P	0.59357	0.856;0.794	T	0.80188	-0.1486	10	0.21014	T	0.42	.	18.0382	0.89311	0.0:0.0:1.0:0.0	.	180;180	P05771-2;P05771	.;KPCB_HUMAN	S	180	ENSP00000318315:A180S;ENSP00000305355:A180S	ENSP00000305355:A180S	A	+	1	0	PRKCB	24011621	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.378000	0.97191	2.577000	0.86979	0.555000	0.69702	GCT		0.418	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		5	115	1	0	0.000602214	1	0.00062298	5	115				
LEPREL1	55214	broad.mit.edu	37	3	189704595	189704595	+	Silent	SNP	C	C	A			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr3:189704595C>A	ENST00000319332.5	-	6	1367	c.1170G>T	c.(1168-1170)ggG>ggT	p.G390G	LEPREL1_ENST00000427335.2_Silent_p.G209G	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	390					collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGTATGAAAACCCCAGACCTT	0.353																																						ENST00000319332.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41						c.(1168-1170)ggG>ggT		leprecan-like 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						110.0	119.0	116.0					3																	189704595		2203	4300	6503	SO:0001819	synonymous_variant	55214				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr3:189704595C>A		CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 2"""	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.1170G>T	3.37:g.189704595C>A						LEPREL1_ENST00000427335.2_Silent_p.G209G	p.G390G	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	6	1367	-	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		390					B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Silent	SNP	ENST00000319332.5	37	c.1170G>T	CCDS3294.1																																																																																				0.353	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343855.1	NM_018192		10	173	1	0	7.03913e-09	1	7.82125e-09	10	173				
TRO	7216	broad.mit.edu	37	X	54949634	54949634	+	Silent	SNP	G	G	A			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chrX:54949634G>A	ENST00000173898.7	+	3	781	c.669G>A	c.(667-669)tcG>tcA	p.S223S	TRO_ENST00000420798.2_Intron|TRO_ENST00000375041.2_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000484031.1_Intron|TRO_ENST00000375022.4_Silent_p.S223S|TRO_ENST00000319167.8_Silent_p.S223S	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	223					embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CCGAGGTCTCGCTGGCTGCAA	0.522																																						ENST00000173898.7																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(667-669)tcG>tcA		trophinin							48.0	52.0	50.0					X																	54949634		2119	4204	6323	SO:0001819	synonymous_variant	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54949634G>A	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.669G>A	X.37:g.54949634G>A						TRO_ENST00000375022.4_Silent_p.S223S|TRO_ENST00000375041.2_Intron|TRO_ENST00000420798.2_Intron|TRO_ENST00000484031.1_Intron|TRO_ENST00000319167.8_Silent_p.S223S|TRO_ENST00000399736.1_Intron	p.S223S	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN			3	781	+			223					B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Silent	SNP	ENST00000173898.7	37	c.669G>A	CCDS43959.1																																																																																				0.522	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		3	28	0	0	0	1	0	3	28				
OR4K15	81127	broad.mit.edu	37	14	20444562	20444562	+	Silent	SNP	T	T	G			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr14:20444562T>G	ENST00000305051.5	+	1	960	c.885T>G	c.(883-885)ctT>ctG	p.L295L		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACAAAGTCCTTGCTGTATTCT	0.418																																						ENST00000305051.5																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39						c.(883-885)ctT>ctG		olfactory receptor, family 4, subfamily K, member 15							126.0	120.0	122.0					14																	20444562		2203	4299	6502	SO:0001819	synonymous_variant	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20444562T>G		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.885T>G	14.37:g.20444562T>G							p.L295L	NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	960	+	all_cancers(95;0.00108)		295					B9EIL3|Q6IEZ4	Silent	SNP	ENST00000305051.5	37	c.885T>G	CCDS32026.1																																																																																				0.418	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			4	133	0	0	0	1	0	4	133				
AP4M1	9179	broad.mit.edu	37	7	99701079	99701079	+	Silent	SNP	C	C	T			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr7:99701079C>T	ENST00000359593.4	+	5	557	c.399C>T	c.(397-399)ttC>ttT	p.F133F	AP4M1_ENST00000422582.1_Silent_p.F5F|AP4M1_ENST00000421755.1_Silent_p.F133F|MCM7_ENST00000303887.5_5'Flank|MCM7_ENST00000354230.3_5'Flank|MCM7_ENST00000343023.6_5'Flank|AP4M1_ENST00000429084.1_Silent_p.F140F	NM_004722.3	NP_004713.2	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	133					Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|Golgi trans cisterna (GO:0000138)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGAGGAATTTCATCCAGACGG	0.517																																					Pancreas(174;1182 2812 29595 49511)	ENST00000429084.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17						c.(418-420)ttC>ttT		adaptor-related protein complex 4, mu 1 subunit							123.0	113.0	116.0					7																	99701079		2203	4300	6503	SO:0001819	synonymous_variant	9179				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity	g.chr7:99701079C>T	Y08387	CCDS5685.1	7q22.1	2012-06-29			ENSG00000221838	ENSG00000221838			574	protein-coding gene	gene with protein product	"""mu-adaptin-related protein-2"", ""mu subunit of AP-4"", ""AP-4 adapter complex mu subunit"", ""adaptor-related protein complex AP-4 mu4 subunit"""	602296				9013859, 10066790, 21620353	Standard	NM_004722		Approved	MU-ARP2, MU-4, SPG50	uc003utb.4	O00189	OTTHUMG00000154722	ENST00000359593.4:c.399C>T	7.37:g.99701079C>T						AP4M1_ENST00000421755.1_Silent_p.F133F|AP4M1_ENST00000422582.1_Silent_p.F5F|AP4M1_ENST00000359593.4_Silent_p.F133F	p.F140F			O00189	AP4M1_HUMAN			5	578	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		133					D6W5U1|Q8WV65|Q9UHK9	Silent	SNP	ENST00000359593.4	37	c.420C>T	CCDS5685.1																																																																																				0.517	AP4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336772.4	NM_004722		4	93	0	0	0	1	0	4	93				
CACNA2D4	93589	broad.mit.edu	37	12	2017138	2017138	+	Silent	SNP	G	G	A			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr12:2017138G>A	ENST00000382722.5	-	5	914	c.552C>T	c.(550-552)ggC>ggT	p.G184G	CACNA2D4_ENST00000587995.1_Silent_p.G184G|CACNA2D4_ENST00000585732.1_Silent_p.G184G|CACNA2D4_ENST00000585708.1_Silent_p.G120G|CACNA2D4_ENST00000588077.1_Silent_p.G120G|CACNA2D4_ENST00000586184.1_Silent_p.G184G	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	184					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GGAACTCGGCGCCCAGCTCCA	0.602																																					Colon(2;101 179 21030 23310 28141)	ENST00000382722.5																			0				endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(550-552)ggC>ggT		calcium channel, voltage-dependent, alpha 2/delta subunit 4							58.0	63.0	61.0					12																	2017138		2109	4220	6329	SO:0001819	synonymous_variant	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:2017138G>A	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.552C>T	12.37:g.2017138G>A						CACNA2D4_ENST00000586184.1_Silent_p.G184G|CACNA2D4_ENST00000587995.1_Silent_p.G184G|CACNA2D4_ENST00000585732.1_Silent_p.G184G|CACNA2D4_ENST00000585708.1_Silent_p.G120G|CACNA2D4_ENST00000588077.1_Silent_p.G120G	p.G184G	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	5	914	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	184					Q7Z3S8|Q86XZ5|Q8IZS9	Silent	SNP	ENST00000382722.5	37	c.552C>T	CCDS44785.1																																																																																				0.602	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			4	68	0	0	0	1	0	4	68				
TRPM1	4308	broad.mit.edu	37	15	31342749	31342749	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr15:31342749C>A	ENST00000256552.6	-	12	1447	c.1300G>T	c.(1300-1302)Gcc>Tcc	p.A434S	TRPM1_ENST00000542188.1_Missense_Mutation_p.A451S|TRPM1_ENST00000397795.2_Missense_Mutation_p.A412S	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TTCTCCGTGGCTTTGCTGTCC	0.557																																						ENST00000542188.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(1351-1353)Gcc>Tcc		transient receptor potential cation channel, subfamily M, member 1							93.0	91.0	92.0					15																	31342749		1952	4141	6093	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31342749C>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.1300G>T	15.37:g.31342749C>A	ENSP00000256552:p.Ala434Ser					TRPM1_ENST00000256552.6_Missense_Mutation_p.A434S|TRPM1_ENST00000397795.2_Missense_Mutation_p.A412S	p.A451S	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	11	1664	-		all_lung(180;1.92e-11)	412						Missense_Mutation	SNP	ENST00000256552.6	37	c.1351G>T	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	0.804	-0.754389	0.03041	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.52295	0.69;0.67;0.7	4.97	3.08	0.35506	.	1.583790	0.03430	N	0.207621	T	0.31295	0.0792	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.14578	0.011;0.005	T	0.24297	-1.0164	10	0.49607	T	0.09	-1.0063	6.777	0.23624	0.0:0.7084:0.0:0.2915	.	406;412	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	S	412;451;434;412	ENSP00000380897:A412S;ENSP00000437849:A451S;ENSP00000256552:A434S	ENSP00000256552:A434S	A	-	1	0	TRPM1	29130041	0.015000	0.18098	0.145000	0.22337	0.124000	0.20399	0.625000	0.24477	0.499000	0.27970	0.313000	0.20887	GCC		0.557	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		3	39	1	0	0.115264	1	0.115264	3	39				
CAMTA1	23261	broad.mit.edu	37	1	7725039	7725039	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr1:7725039G>A	ENST00000303635.7	+	9	2639	c.2432G>A	c.(2431-2433)cGg>cAg	p.R811Q	CAMTA1_ENST00000439411.2_Missense_Mutation_p.R811Q	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	811					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GACGGGGCGCGGGCCCCCTTC	0.687			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(2431-2433)cGg>cAg		calmodulin binding transcription activator 1							66.0	81.0	76.0					1																	7725039		2203	4296	6499	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7725039G>A	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.2432G>A	1.37:g.7725039G>A	ENSP00000306522:p.Arg811Gln					CAMTA1_ENST00000439411.2_Missense_Mutation_p.R811Q	p.R811Q	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	9	2639	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	811					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.2432G>A	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	g	10.48	1.360749	0.24598	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.21543	2.0;2.0	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.34048	0.0884	L	0.47716	1.5	0.29915	N	0.823262	D	0.76494	0.999	D	0.72625	0.978	T	0.09122	-1.0689	10	0.14252	T	0.57	-16.616	12.0148	0.53307	0.0798:0.0:0.9202:0.0	.	811	Q9Y6Y1	CMTA1_HUMAN	Q	811	ENSP00000306522:R811Q;ENSP00000402561:R811Q	ENSP00000306522:R811Q	R	+	2	0	CAMTA1	7647626	1.000000	0.71417	0.337000	0.25536	0.388000	0.30384	9.067000	0.93955	2.406000	0.81754	0.478000	0.44815	CGG		0.687	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		6	160	0	0	0	1	0	6	160				
ZNF599	148103	broad.mit.edu	37	19	35251041	35251041	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr19:35251041G>A	ENST00000329285.8	-	4	1038	c.665C>T	c.(664-666)gCt>gTt	p.A222V		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	222					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			CTTCACTCCAGCATGAATCTG	0.478																																						ENST00000329285.7																			0				endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24						c.(664-666)gCt>gTt		zinc finger protein 599							189.0	186.0	187.0					19																	35251041		2203	4300	6503	SO:0001583	missense	148103				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35251041G>A	AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"""Zinc fingers, C2H2-type"", ""-"""	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.665C>T	19.37:g.35251041G>A	ENSP00000333802:p.Ala222Val						p.A222V	NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		4	1038	-	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		222					Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	37	c.665C>T	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672265	0.47781	.	.	ENSG00000153896	ENST00000392231;ENST00000329285;ENST00000392229	T	0.17691	2.26	2.26	2.26	0.28386	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13756	0.0333	L	0.28192	0.835	0.80722	D	1	B	0.29481	0.245	B	0.34489	0.184	T	0.15492	-1.0435	9	0.72032	D	0.01	.	10.6	0.45360	0.0:0.0:1.0:0.0	.	222	Q96NL3	ZN599_HUMAN	V	221;222;24	ENSP00000333802:A222V	ENSP00000333802:A222V	A	-	2	0	ZNF599	39942881	0.375000	0.25089	0.973000	0.42090	0.843000	0.47879	2.438000	0.44837	1.584000	0.49913	0.313000	0.20887	GCT		0.478	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046		4	180	0	0	0	1	0	4	180				
BDP1	55814	broad.mit.edu	37	5	70818186	70818186	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr5:70818186A>G	ENST00000358731.4	+	23	5325	c.5062A>G	c.(5062-5064)Aat>Gat	p.N1688D	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1688					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GGCTAAGCCAAATTTGGGAAG	0.383																																						ENST00000358731.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(5062-5064)Aat>Gat		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB							147.0	147.0	147.0					5																	70818186		1855	4096	5951	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70818186A>G	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.5062A>G	5.37:g.70818186A>G	ENSP00000351575:p.Asn1688Asp					BDP1_ENST00000380675.2_5'UTR	p.N1688D	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	23	5325	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	1688					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.5062A>G	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	A	13.23	2.174657	0.38413	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.13089	2.62	5.21	1.48	0.22813	.	0.342976	0.25169	N	0.032611	T	0.10423	0.0255	L	0.38531	1.155	0.80722	D	1	B;B	0.24576	0.106;0.044	B;B	0.28991	0.097;0.041	T	0.19386	-1.0307	10	0.30854	T	0.27	.	7.4575	0.27274	0.743:0.0:0.257:0.0	.	1688;1688	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	D	1688;1268	ENSP00000351575:N1688D	ENSP00000351575:N1688D	N	+	1	0	BDP1	70853942	1.000000	0.71417	0.997000	0.53966	0.958000	0.62258	2.126000	0.42026	0.016000	0.14998	0.454000	0.30748	AAT		0.383	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		4	174	0	0	0	1	0	4	174				
ATP7A	538	broad.mit.edu	37	X	77258626	77258626	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chrX:77258626C>G	ENST00000341514.6	+	6	1755	c.1600C>G	c.(1600-1602)Cct>Gct	p.P534A	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.P534A	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	534	HMA 5. {ECO:0000255|PROSITE- ProRule:PRU00280}.				blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AAGGTATAATCCTGCTGTTAT	0.393																																						ENST00000341514.6																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(1600-1602)Cct>Gct		ATPase, Cu++ transporting, alpha polypeptide							179.0	163.0	169.0					X																	77258626		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77258626C>G	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.1600C>G	X.37:g.77258626C>G	ENSP00000345728:p.Pro534Ala					ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.P534A	p.P534A	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN			6	1755	+			534			HMA 5.		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.1600C>G	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.697535	0.30142	.	.	ENSG00000165240	ENST00000343533;ENST00000341514;ENST00000355691	D;D	0.88277	-2.36;-2.36	5.15	3.2	0.36748	Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1);	0.125811	0.56097	N	0.000039	D	0.86426	0.5930	L	0.52011	1.625	0.80722	D	1	B;B	0.34103	0.437;0.362	B;B	0.37267	0.245;0.133	D	0.84620	0.0683	10	0.39692	T	0.17	-0.8192	14.9769	0.71281	0.0:0.7388:0.2612:0.0	.	534;544	Q04656;Q59HD1	ATP7A_HUMAN;.	A	534;534;544	ENSP00000343026:P534A;ENSP00000345728:P534A	ENSP00000345728:P534A	P	+	1	0	ATP7A	77145282	1.000000	0.71417	0.984000	0.44739	0.988000	0.76386	2.277000	0.43417	1.037000	0.40024	0.429000	0.28392	CCT		0.393	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		9	313	0	0	0	1	0	9	313				
ABCA9	10350	broad.mit.edu	37	17	66982411	66982411	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr17:66982411G>A	ENST00000340001.4	-	32	4313	c.4102C>T	c.(4102-4104)Cct>Tct	p.P1368S	ABCA9_ENST00000482072.1_5'Flank|ABCA9_ENST00000370732.2_Missense_Mutation_p.P1368S|ABCA9_ENST00000453985.2_Missense_Mutation_p.P1330S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1368	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TTCTCCTGAGGGCAGTACCCC	0.537																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(4102-4104)Cct>Tct		ATP-binding cassette, sub-family A (ABC1), member 9							117.0	99.0	105.0					17																	66982411		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:66982411G>A	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.4102C>T	17.37:g.66982411G>A	ENSP00000342216:p.Pro1368Ser					ABCA9_ENST00000453985.2_Missense_Mutation_p.P1330S|ABCA9_ENST00000370732.2_Missense_Mutation_p.P1368S	p.P1368S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			32	4313	-	Breast(10;1.47e-12)		1368			ABC transporter 2.		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.4102C>T	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738364	0.69304	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732	T;T	0.15017	2.46;2.46	4.87	3.84	0.44239	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.284029	0.24925	N	0.034508	T	0.41858	0.1177	M	0.75884	2.315	0.47994	D	0.999563	D;D	0.76494	0.999;0.999	D;D	0.83275	0.982;0.996	T	0.42599	-0.9442	10	0.87932	D	0	.	14.8597	0.70372	0.0:0.1435:0.8565:0.0	.	1368;1368	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	S	1368;1313;1368	ENSP00000342216:P1368S;ENSP00000359767:P1368S	ENSP00000342216:P1368S	P	-	1	0	ABCA9	64494006	1.000000	0.71417	0.993000	0.49108	0.453000	0.32348	7.060000	0.76692	2.424000	0.82194	0.655000	0.94253	CCT		0.537	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		18	56	0	0	0	1	0	18	56				
RFPL1	5988	broad.mit.edu	37	22	29837976	29837976	+	Silent	SNP	C	C	A			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr22:29837976C>A	ENST00000354373.2	+	2	1028	c.819C>A	c.(817-819)gtC>gtA	p.V273V	RFPL1S_ENST00000539579.1_RNA|RFPL1S_ENST00000461286.3_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	273	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)	p.V273V(2)		endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						TCAGGAGTGTCTCTGCTGAGG	0.468																																						ENST00000354373.2																			2	Substitution - coding silent(2)	p.V273V(2)	lung(1)|endometrium(1)	endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						c.(817-819)gtC>gtA		ret finger protein-like 1							116.0	96.0	103.0					22																	29837976		2203	4300	6503	SO:0001819	synonymous_variant	5988						zinc ion binding	g.chr22:29837976C>A	AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"""RING-type (C3HC4) zinc fingers"""	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.819C>A	22.37:g.29837976C>A						RFPL1S_ENST00000461286.2_RNA	p.V273V	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN			2	1028	+			273			B30.2/SPRY.		Q6IC06|Q9UJ97	Silent	SNP	ENST00000354373.2	37	c.819C>A	CCDS13857.2																																																																																				0.468	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	NM_021026		4	63	1	0	3.59834e-05	1	3.85536e-05	4	63				
HSPD1P6	645548	broad.mit.edu	37	3	36810381	36810382	+	RNA	DEL	TT	TT	-			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr3:36810381_36810382delTT	ENST00000424886.1	-	0	404_405									heat shock 60kDa protein 1 (chaperonin) pseudogene 6																		GAGTGAGGCCttttttttttta	0.545																																						ENST00000424886.1																			0																																																			645548							g.chr3:36810381_36810382delTT			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.36810389_36810390delTT														0	404_405	-									RNA	DEL	ENST00000424886.1	37																																																																																						0.545	HSPD1P6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341724.1	XR_017400		2	4						2	4	---	---	---	---
AGAP11	119385	broad.mit.edu	37	10	88767683	88767683	+	RNA	DEL	A	A	-	rs367961074		TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr10:88767683delA	ENST00000444431.1	+	0	2711				RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										CAGAAAATGTATCtttttttt	0.413																																						ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11																																						119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88767683delA			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88767683delA						RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA				Q8TF27	AGA11_HUMAN			0	2711	+								B9EIP7|D3DWE4	RNA	DEL	ENST00000444431.1	37																																																																																						0.413	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		2	4						2	4	---	---	---	---
ADAMTS8	11095	broad.mit.edu	37	11	130297993	130297993	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr11:130297993delG	ENST00000257359.6	-	1	895	c.189delC	c.(187-189)ggcfs	p.G63fs		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	63					negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GCAGCACGAAGCCCTTGCCGA	0.776																																						ENST00000257359.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(187-189)ggfs		ADAM metallopeptidase with thrombospondin type 1 motif, 8							2.0	3.0	2.0					11																	130297993		1278	3091	4369	SO:0001589	frameshift_variant	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130297993delG	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.189delC	11.37:g.130297993delG	ENSP00000257359:p.Gly63fs						p.G63fs	NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	1	895	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	63					Q9NZS0	Frame_Shift_Del	DEL	ENST00000257359.6	37	c.189delC	CCDS41732.1																																																																																				0.776	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		2	4						2	4	---	---	---	---
DBNDD1	79007	broad.mit.edu	37	16	90072754	90072754	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr16:90072754delG	ENST00000002501.6	-	4	597	c.466delC	c.(466-468)cagfs	p.Q156fs	DBNDD1_ENST00000392973.3_Frame_Shift_Del_p.Q162fs|DBNDD1_ENST00000304733.3_Frame_Shift_Del_p.Q176fs|DBNDD1_ENST00000568838.1_Frame_Shift_Del_p.Q276fs	NM_001042610.1	NP_001036075.1	Q9H9R9	DBND1_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 1	156						cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0275)		TAGTCCTCCTGGGGCCTCTCC	0.637																																						ENST00000392973.3																			0				kidney(1)|large_intestine(1)|lung(1)	3						c.(484-486)agfs		dysbindin (dystrobrevin binding protein 1) domain containing 1							38.0	46.0	44.0					16																	90072754		2075	4198	6273	SO:0001589	frameshift_variant	79007					cytoplasm		g.chr16:90072754delG	AK090696	CCDS10991.2, CCDS42223.1, CCDS73931.1	16q24.3	2008-02-05			ENSG00000003249	ENSG00000003249			28455	protein-coding gene	gene with protein product						12477932	Standard	NM_001288708		Approved	MGC3101, FLJ12582	uc002fqe.1	Q9H9R9	OTTHUMG00000138984	ENST00000002501.6:c.466delC	16.37:g.90072754delG	ENSP00000002501:p.Gln156fs					DBNDD1_ENST00000304733.3_Frame_Shift_Del_p.Q176fs|DBNDD1_ENST00000568838.1_Frame_Shift_Del_p.Q276fs|DBNDD1_ENST00000002501.6_Frame_Shift_Del_p.Q156fs	p.Q162fs			Q9H9R9	DBND1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0275)	3	1215	-		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	156					B4DQS3|Q69YT2|Q9BW25	Frame_Shift_Del	DEL	ENST00000002501.6	37	c.484delC	CCDS42223.1																																																																																				0.637	DBNDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272872.1	NM_024043		2	4						2	4	---	---	---	---
