#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
OR2L3	391192	broad.mit.edu	37	1	248224375	248224375	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr1:248224375A>T	ENST00000359959.3	+	1	392	c.392A>T	c.(391-393)tAt>tTt	p.Y131F	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CCTCTTCACTATCCCATCCGC	0.433																																						ENST00000359959.3																			0				cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41						c.(391-393)tAt>tTt		olfactory receptor, family 2, subfamily L, member 3							305.0	287.0	293.0					1																	248224375		2203	4300	6503	SO:0001583	missense	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224375A>T	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.392A>T	1.37:g.248224375A>T	ENSP00000353044:p.Tyr131Phe					OR2L13_ENST00000366478.2_Intron	p.Y131F	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	392	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		131					B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	c.392A>T	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	.	17.46	3.396358	0.62177	.	.	ENSG00000198128	ENST00000359959	T	0.01981	4.52	1.91	1.91	0.25777	GPCR, rhodopsin-like superfamily (1);	0.000000	0.29473	U	0.012060	T	0.18467	0.0443	H	0.98089	4.145	0.34802	D	0.736794	D	0.76494	0.999	D	0.71414	0.973	T	0.41734	-0.9492	10	0.87932	D	0	.	9.2456	0.37523	1.0:0.0:0.0:0.0	.	131	Q8NG85	OR2L3_HUMAN	F	131	ENSP00000353044:Y131F	ENSP00000353044:Y131F	Y	+	2	0	OR2L3	246290998	1.000000	0.71417	0.790000	0.31976	0.087000	0.18053	6.553000	0.73918	0.853000	0.35312	0.379000	0.24179	TAT		0.433	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		38	190	0	0	0	1	0	38	190				
MYO6	4646	broad.mit.edu	37	6	76599795	76599795	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr6:76599795C>G	ENST00000369977.3	+	26	2819	c.2680C>G	c.(2680-2682)Caa>Gaa	p.Q894E	MYO6_ENST00000369981.3_Missense_Mutation_p.Q894E|MYO6_ENST00000369985.4_Missense_Mutation_p.Q894E|MYO6_ENST00000369975.1_Missense_Mutation_p.Q894E	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	894					actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GACGCAGGAACAAATCCAGAA	0.353																																						ENST00000369981.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2680-2682)Caa>Gaa		myosin VI							77.0	84.0	81.0					6																	76599795		2203	4300	6503	SO:0001583	missense	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76599795C>G	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.2680C>G	6.37:g.76599795C>G	ENSP00000358994:p.Gln894Glu					MYO6_ENST00000369985.4_Missense_Mutation_p.Q894E|MYO6_ENST00000369975.1_Missense_Mutation_p.Q894E|MYO6_ENST00000369977.3_Missense_Mutation_p.Q894E	p.Q894E			Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	26	2959	+		all_hematologic(105;0.189)	894					A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	c.2680C>G	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	C	0.523	-0.861425	0.02610	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	T;D;T;T	0.88664	2.22;-2.41;2.22;2.1	5.84	5.84	0.93424	.	0.113597	0.64402	D	0.000012	T	0.75155	0.3811	N	0.24115	0.695	0.48511	D	0.999666	B;B	0.15141	0.012;0.0	B;B	0.12156	0.007;0.001	T	0.71140	-0.4679	10	0.15066	T	0.55	.	20.1434	0.98067	0.0:1.0:0.0:0.0	.	894;894	Q9UM54-2;Q9UM54-1	.;.	E	894	ENSP00000358998:Q894E;ENSP00000359002:Q894E;ENSP00000358994:Q894E;ENSP00000358992:Q894E	ENSP00000358992:Q894E	Q	+	1	0	MYO6	76656515	1.000000	0.71417	0.996000	0.52242	0.199000	0.23934	4.081000	0.57627	2.760000	0.94817	0.591000	0.81541	CAA		0.353	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		7	96	0	0	0	1	0	7	96				
DDI1	414301	broad.mit.edu	37	11	103908727	103908727	+	Nonsense_Mutation	SNP	C	C	T	rs371239684		TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr11:103908727C>T	ENST00000302259.3	+	1	1420	c.1177C>T	c.(1177-1179)Cga>Tga	p.R393*	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	393							aspartic-type endopeptidase activity (GO:0004190)	p.R393*(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GGATTCAGGACGAAAAGAGCA	0.428																																						ENST00000302259.3																			2	Substitution - Nonsense(2)	p.R393*(2)	endometrium(2)	central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1177-1179)Cga>Tga		DNA-damage inducible 1 homolog 1 (S. cerevisiae)							47.0	47.0	47.0					11																	103908727		2199	4296	6495	SO:0001587	stop_gained	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103908727C>T		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.1177C>T	11.37:g.103908727C>T	ENSP00000302805:p.Arg393*					PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	p.R393*	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	1420	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	393					Q7Z4U6|Q8WTS3	Nonsense_Mutation	SNP	ENST00000302259.3	37	c.1177C>T	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	c	28.8	4.954894	0.92726	.	.	ENSG00000170967	ENST00000302259	.	.	.	5.21	-3.88	0.04205	.	0.607596	0.15502	N	0.258974	.	.	.	.	.	.	0.22253	N	0.999253	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.621	3.8281	0.08863	0.3748:0.2456:0.0:0.3796	.	.	.	.	X	393	.	ENSP00000302805:R393X	R	+	1	2	DDI1	103413937	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.372000	0.02570	-0.580000	0.05944	-0.824000	0.03097	CGA		0.428	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		5	18	0	0	0	1	0	5	18				
MYO1A	4640	broad.mit.edu	37	12	57422571	57422571	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr12:57422571C>A	ENST00000442789.2	-	29	3387	c.3100G>T	c.(3100-3102)Ggg>Tgg	p.G1034W	MYO1A_ENST00000544473.1_Missense_Mutation_p.G872W|MYO1A_ENST00000300119.3_Missense_Mutation_p.G1034W|TAC3_ENST00000415231.1_5'UTR	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	1034	Myosin tail. {ECO:0000255}.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CAATGACTCCCCTTTTTTTTG	0.562																																						ENST00000442789.2																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						c.(3100-3102)Ggg>Tgg		myosin IA							230.0	188.0	202.0					12																	57422571		2203	4300	6503	SO:0001583	missense	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57422571C>A	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.3100G>T	12.37:g.57422571C>A	ENSP00000393392:p.Gly1034Trp					MYO1A_ENST00000544473.1_Missense_Mutation_p.G872W|MYO1A_ENST00000300119.3_Missense_Mutation_p.G1034W|TAC3_ENST00000415231.1_5'UTR	p.G1034W	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN			29	3387	-			1034					Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	c.3100G>T	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.334779	0.41297	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	T;T;T	0.36340	1.26;1.26;1.26	5.39	4.5	0.54988	Myosin tail 2 (1);	0.116337	0.64402	D	0.000020	T	0.52338	0.1728	M	0.63428	1.95	0.36694	D	0.879736	D	0.76494	0.999	D	0.71870	0.975	T	0.61212	-0.7108	10	0.87932	D	0	.	9.0524	0.36385	0.0:0.9022:0.0:0.0978	.	1034	Q9UBC5	MYO1A_HUMAN	W	1034;1034;872	ENSP00000300119:G1034W;ENSP00000393392:G1034W;ENSP00000440514:G872W	ENSP00000300119:G1034W	G	-	1	0	MYO1A	55708838	1.000000	0.71417	1.000000	0.80357	0.015000	0.08874	3.107000	0.50329	2.526000	0.85167	0.467000	0.42956	GGG		0.562	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		16	119	1	0	4.7546e-09	1	5.12034e-09	16	119				
ZNF473	25888	broad.mit.edu	37	19	50548736	50548736	+	Missense_Mutation	SNP	C	C	T	rs575531440		TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr19:50548736C>T	ENST00000595661.1	+	6	1531	c.1036C>T	c.(1036-1038)Cgc>Tgc	p.R346C	ZNF473_ENST00000270617.3_Missense_Mutation_p.R346C|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000391821.2_Missense_Mutation_p.R346C|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Missense_Mutation_p.R334C|CTD-2126E3.3_ENST00000599914.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	346	Interaction with SLBP/pre-mRNA complex.				gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		CACTCGGAAACGCTATGAGTG	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		21027	0.001		0.0	False		,,,				2504	0.0					ENST00000595661.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1036-1038)Cgc>Tgc		zinc finger protein 473																																				SO:0001583	missense	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50548736C>T	AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.1036C>T	19.37:g.50548736C>T	ENSP00000472808:p.Arg346Cys					ZNF473_ENST00000391821.2_Missense_Mutation_p.R346C|CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000270617.3_Missense_Mutation_p.R346C|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Missense_Mutation_p.R334C	p.R346C			Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	6	1531	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	346			Interaction with SLBP/pre-mRNA complex.		A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	ENST00000595661.1	37	c.1036C>T	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.286415	0.59867	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.60920	0.15;0.15;0.15	4.06	-1.67	0.08238	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.510860	0.03989	N	0.294542	T	0.51550	0.1681	L	0.49571	1.57	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.49925	-0.8887	10	0.87932	D	0	-0.2024	8.4088	0.32632	0.0:0.5367:0.0:0.4633	.	346	Q8WTR7	ZN473_HUMAN	C	346;346;334	ENSP00000270617:R346C;ENSP00000375697:R346C;ENSP00000388961:R334C	ENSP00000270617:R346C	R	+	1	0	ZNF473	55240548	0.000000	0.05858	0.000000	0.03702	0.388000	0.30384	0.355000	0.20163	-0.181000	0.10619	0.655000	0.94253	CGC		0.478	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		10	53	0	0	0	1	0	10	53				
WHSC1L1	54904	broad.mit.edu	37	8	38187124	38187124	+	Silent	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr8:38187124G>A	ENST00000317025.8	-	6	1870	c.1353C>T	c.(1351-1353)agC>agT	p.S451S	WHSC1L1_ENST00000316985.3_Silent_p.S451S|WHSC1L1_ENST00000433384.2_Silent_p.S451S|WHSC1L1_ENST00000527502.1_Silent_p.S451S	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	451					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GCCGCCTCTGGCTATGTCTCC	0.522			T	NUP98	AML																																	ENST00000317025.8				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1351-1353)agC>agT		Wolf-Hirschhorn syndrome candidate 1-like 1							101.0	95.0	97.0					8																	38187124		2203	4300	6503	SO:0001819	synonymous_variant	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38187124G>A	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.1353C>T	8.37:g.38187124G>A						WHSC1L1_ENST00000527502.1_Silent_p.S451S|WHSC1L1_ENST00000316985.3_Silent_p.S451S|WHSC1L1_ENST00000433384.2_Silent_p.S451S	p.S451S	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		6	1870	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	451					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Silent	SNP	ENST00000317025.8	37	c.1353C>T	CCDS43729.1																																																																																				0.522	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		21	97	0	0	0	1	0	21	97				
UNC5C	8633	broad.mit.edu	37	4	96163694	96163694	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr4:96163694A>G	ENST00000453304.1	-	7	1342	c.994T>C	c.(994-996)Tgc>Cgc	p.C332R	UNC5C_ENST00000506749.1_Missense_Mutation_p.C332R	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	332	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CAGTGGGTGCACTCAGTTCCA	0.592																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(994-996)Tgc>Cgc		unc-5 homolog C (C. elegans)							40.0	32.0	35.0					4																	96163694		2203	4300	6503	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96163694A>G	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.994T>C	4.37:g.96163694A>G	ENSP00000406022:p.Cys332Arg					UNC5C_ENST00000506749.1_Missense_Mutation_p.C332R	p.C332R	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	7	1342	-		Hepatocellular(203;0.114)	332			TSP type-1 2.		Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.994T>C	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.556495	0.86231	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749	T;T;T	0.79653	-1.29;-1.29;-1.29	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.93749	0.8002	H	0.98487	4.245	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.97110	1.0;0.998;0.998	D	0.96051	0.9031	10	0.87932	D	0	.	15.3444	0.74324	1.0:0.0:0.0:0.0	.	332;332;332	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	R	332;291;332;332	ENSP00000406022:C332R;ENSP00000426924:C332R;ENSP00000426153:C332R	ENSP00000328673:C291R	C	-	1	0	UNC5C	96382717	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.997000	0.93544	2.263000	0.75096	0.533000	0.62120	TGC		0.592	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		7	28	0	0	0	1	0	7	28				
GAS7	8522	broad.mit.edu	37	17	9837515	9837515	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr17:9837515C>T	ENST00000432992.2	-	9	1013	c.853G>A	c.(853-855)Gaa>Aaa	p.E285K	GAS7_ENST00000579158.1_Missense_Mutation_p.E221K|GAS7_ENST00000396115.2_Intron|GAS7_ENST00000437099.2_Missense_Mutation_p.E221K|GAS7_ENST00000580865.1_Missense_Mutation_p.E145K|GAS7_ENST00000585266.1_Missense_Mutation_p.E225K|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000323816.4_Missense_Mutation_p.E225K|GAS7_ENST00000542249.1_Missense_Mutation_p.E221K|GAS7_ENST00000583882.1_Intron	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	285	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						ACTTCTGCTTCGTCCGCCAGG	0.537			T	MLL	AML*																																	ENST00000396115.1				Dom	yes		17	17p	8522	T	growth arrest-specific 7			L	MLL		AML*		0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						c.(673-675)Gaa>Aaa		growth arrest-specific 7							115.0	84.0	94.0					17																	9837515		2203	4300	6503	SO:0001583	missense	8522				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	g.chr17:9837515C>T	AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.853G>A	17.37:g.9837515C>T	ENSP00000407552:p.Glu285Lys					GAS7_ENST00000542249.1_Missense_Mutation_p.E230K|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000579158.1_Missense_Mutation_p.E237K|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000580865.1_Missense_Mutation_p.E145K|GAS7_ENST00000323816.4_Missense_Mutation_p.E221K|GAS7_ENST00000585266.1_Missense_Mutation_p.E221K|GAS7_ENST00000437099.2_Missense_Mutation_p.E221K|GAS7_ENST00000432992.2_Missense_Mutation_p.E285K	p.E225K	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN			9	983	-			285			FCH.		A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Missense_Mutation	SNP	ENST00000432992.2	37	c.673G>A	CCDS11152.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955233	0.92726	.	.	ENSG00000007237	ENST00000323816;ENST00000396115;ENST00000437099;ENST00000432992;ENST00000537970;ENST00000541114	T	0.19105	2.17	4.93	4.93	0.64822	Fps/Fes/Fer/CIP4 homology (3);	0.000000	0.85682	D	0.000000	T	0.45296	0.1335	M	0.74258	2.255	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.996;0.999	D;D;P;D	0.69654	0.936;0.965;0.83;0.965	T	0.34004	-0.9846	9	.	.	.	-0.1159	15.1847	0.72989	0.0:1.0:0.0:0.0	.	237;225;145;285	B7Z2L1;A8KAC2;O60861-2;O60861	.;.;.;GAS7_HUMAN	K	285;225;224;145;225;99	ENSP00000379421:E225K	.	E	-	1	0	GAS7	9778240	1.000000	0.71417	0.846000	0.33378	0.754000	0.42855	7.353000	0.79414	2.587000	0.87381	0.655000	0.94253	GAA		0.537	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433		11	43	0	0	0	1	0	11	43				
CAMK2A	815	broad.mit.edu	37	5	149636365	149636365	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr5:149636365A>G	ENST00000348628.6	-	5	967	c.302T>C	c.(301-303)aTc>aCc	p.I101T	CAMK2A_ENST00000398376.3_Missense_Mutation_p.I101T	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	101	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|kinase activity (GO:0016301)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCGGGCCACGATATCTTCAAA	0.592																																						ENST00000348628.6																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15						c.(301-303)aTc>aCc		calcium/calmodulin-dependent protein kinase II alpha							69.0	73.0	72.0					5																	149636365		2082	4220	6302	SO:0001583	missense	815				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:149636365A>G	AB023185	CCDS43386.1, CCDS43387.1	5q32	2013-09-20	2008-10-30		ENSG00000070808	ENSG00000070808	2.7.11.17		1460	protein-coding gene	gene with protein product	"""CaM-kinase II alpha chain"", ""calcium/calmodulin-dependent protein kinase II alpha-B subunit"", ""CaM kinase II alpha subunit"", ""CaMK-II alpha subunit"", ""calcium/calmodulin-dependent protein kinase type II alpha chain"""	114078	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha"""	CAMKA		10231032, 3475713	Standard	NM_015981		Approved	KIAA0968, CaMKIINalpha	uc003lrt.2	Q9UQM7	OTTHUMG00000134281	ENST00000348628.6:c.302T>C	5.37:g.149636365A>G	ENSP00000261793:p.Ile101Thr					CAMK2A_ENST00000398376.3_Missense_Mutation_p.I101T	p.I101T	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	967	-		all_hematologic(541;0.224)	101			Protein kinase.		Q9UL21|Q9Y2H4|Q9Y352	Missense_Mutation	SNP	ENST00000348628.6	37	c.302T>C	CCDS43386.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.027290	0.75390	.	.	ENSG00000070808	ENST00000348628;ENST00000398376	T;T	0.70869	-0.52;-0.52	5.24	5.24	0.73138	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000001	D	0.85767	0.5773	M	0.86805	2.84	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.91635	0.994;0.999;0.997	D	0.88501	0.3082	10	0.87932	D	0	.	14.789	0.69824	1.0:0.0:0.0:0.0	.	101;101;101	Q9UQM7-2;Q9UQM7;A8K161	.;KCC2A_HUMAN;.	T	101	ENSP00000261793:I101T;ENSP00000381412:I101T	ENSP00000261793:I101T	I	-	2	0	CAMK2A	149616558	1.000000	0.71417	1.000000	0.80357	0.526000	0.34562	9.132000	0.94455	1.983000	0.57843	0.482000	0.46254	ATC		0.592	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258869.2	NM_015981		9	28	0	0	0	1	0	9	28				
COL11A2	1302	broad.mit.edu	37	6	33145197	33145197	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr6:33145197C>T	ENST00000374708.4	-	21	1963	c.1705G>A	c.(1705-1707)Ggg>Agg	p.G569R	COL11A2_ENST00000341947.2_Missense_Mutation_p.G655R|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000395197.1_Missense_Mutation_p.G595R|COL11A2_ENST00000374714.1_Missense_Mutation_p.G629R|COL11A2_ENST00000374712.1_Missense_Mutation_p.G574R|COL11A2_ENST00000357486.1_Missense_Mutation_p.G634R|COL11A2_ENST00000374713.1_Missense_Mutation_p.G608R|COL11A2_ENST00000361917.1_Missense_Mutation_p.G548R	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	655	Collagen-like 3.|Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ACCTGGGTCCCAGGGGTGCCC	0.552																																					Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(1963-1965)Ggg>Agg		collagen, type XI, alpha 2							40.0	41.0	41.0					6																	33145197		1509	2709	4218	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33145197C>T	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.1705G>A	6.37:g.33145197C>T	ENSP00000363840:p.Gly569Arg					COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000374713.1_Missense_Mutation_p.G608R|COL11A2_ENST00000357486.1_Missense_Mutation_p.G634R|COL11A2_ENST00000395197.1_Missense_Mutation_p.G595R|COL11A2_ENST00000361917.1_Missense_Mutation_p.G548R|COL11A2_ENST00000374714.1_Missense_Mutation_p.G629R|COL11A2_ENST00000374708.4_Missense_Mutation_p.G569R|COL11A2_ENST00000374712.1_Missense_Mutation_p.G574R	p.G655R	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			23	2190	-			655			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.1963G>A	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.429350	0.83776	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.99637	-6.29;-6.29;-6.29;-6.29;-6.29;-6.29;-6.29;-6.29	4.07	4.07	0.47477	.	0.000000	0.85682	D	0.000000	D	0.99809	0.9917	H	0.98646	4.29	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96776	0.9572	10	0.87932	D	0	.	13.8013	0.63202	0.0:1.0:0.0:0.0	.	548;569;655	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	R	569;655;634;629;608;595;574;548	ENSP00000363840:G569R;ENSP00000339915:G655R;ENSP00000350079:G634R;ENSP00000363846:G629R;ENSP00000363845:G608R;ENSP00000378623:G595R;ENSP00000363844:G574R;ENSP00000355123:G548R	ENSP00000339915:G655R	G	-	1	0	COL11A2	33253175	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.782000	0.75073	2.113000	0.64589	0.579000	0.79373	GGG		0.552	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			8	35	0	0	0	1	0	8	35				
A2M	2	broad.mit.edu	37	12	9248214	9248214	+	Missense_Mutation	SNP	C	C	T	rs200062192		TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr12:9248214C>T	ENST00000318602.7	-	16	2241	c.1934G>A	c.(1933-1935)cGt>cAt	p.R645H		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	645					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GACATTATGACGATTGATGCA	0.398																																						ENST00000318602.7																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.(1933-1935)cGt>cAt		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)	C	HIS/ARG	0,3748		0,0,1874	130.0	125.0	127.0		1934	-11.3	0.0	12		127	1,8221		0,1,4110	yes	missense	A2M	NM_000014.4	29	0,1,5984	TT,TC,CC		0.0122,0.0,0.0084	benign	645/1475	9248214	1,11969	1874	4111	5985	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9248214C>T	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.1934G>A	12.37:g.9248214C>T	ENSP00000323929:p.Arg645His						p.R645H	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN			16	2241	-			645					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.1934G>A	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	C	8.667	0.901896	0.17760	0.0	1.22E-4	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.30714	1.52	5.65	-11.3	0.00108	.	1.415710	0.04065	N	0.307000	T	0.09158	0.0226	N	0.04297	-0.235	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.10086	-1.0645	10	0.15066	T	0.55	.	3.2689	0.06875	0.3505:0.4024:0.0766:0.1705	.	645	P01023	A2MG_HUMAN	H	645;660	ENSP00000323929:R645H	ENSP00000323929:R645H	R	-	2	0	A2M	9139481	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.130000	0.03241	-2.223000	0.00726	-0.145000	0.13849	CGT		0.398	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		4	59	0	0	0	1	0	4	59				
ABCB1	5243	broad.mit.edu	37	7	87183144	87183144	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr7:87183144G>T	ENST00000265724.3	-	10	1349	c.932C>A	c.(931-933)gCt>gAt	p.A311D	ABCB1_ENST00000543898.1_Missense_Mutation_p.A247D	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	311	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GAAGGCCAGAGCATAAGATGC	0.383																																						ENST00000265724.3																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(931-933)gCt>gAt		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						177.0	167.0	170.0					7																	87183144		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87183144G>T	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.932C>A	7.37:g.87183144G>T	ENSP00000265724:p.Ala311Asp					ABCB1_ENST00000543898.1_Missense_Mutation_p.A247D	p.A311D	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			10	1349	-	Esophageal squamous(14;0.00164)		311			ABC transmembrane type-1 1.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.932C>A	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	34	5.324105	0.95708	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.92249	-3.0;-3.0	5.41	5.41	0.78517	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.051071	0.85682	D	0.000000	D	0.97504	0.9183	H	0.95328	3.655	0.80722	D	1	D;D	0.76494	0.999;0.998	P;D	0.87578	0.862;0.998	D	0.98298	1.0517	10	0.87932	D	0	-16.1124	19.5538	0.95333	0.0:0.0:1.0:0.0	.	247;311	B5AK60;P08183	.;MDR1_HUMAN	D	92;311;247	ENSP00000265724:A311D;ENSP00000444095:A247D	ENSP00000265724:A311D	A	-	2	0	ABCB1	87021080	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.751000	0.62169	2.688000	0.91661	0.655000	0.94253	GCT		0.383	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		25	128	1	0	7.92952e-12	1	8.73138e-12	25	128				
MNDA	4332	broad.mit.edu	37	1	158815468	158815468	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr1:158815468C>T	ENST00000368141.4	+	5	923	c.662C>T	c.(661-663)gCg>gTg	p.A221V		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	221	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AAAGCAACAGCGCCATTTAAA	0.468																																						ENST00000368141.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(661-663)gCg>gTg		myeloid cell nuclear differentiation antigen							84.0	80.0	81.0					1																	158815468		2203	4300	6503	SO:0001583	missense	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158815468C>T	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.662C>T	1.37:g.158815468C>T	ENSP00000357123:p.Ala221Val						p.A221V	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN			5	923	+	all_hematologic(112;0.0378)		221			HIN-200.			Missense_Mutation	SNP	ENST00000368141.4	37	c.662C>T	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.923598	0.33908	.	.	ENSG00000163563	ENST00000368141	T	0.30714	1.52	4.15	-1.34	0.09143	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	2.029340	0.02979	N	0.145397	T	0.05044	0.0135	N	0.08118	0	0.09310	N	1	P	0.52463	0.953	B	0.37267	0.245	T	0.14531	-1.0469	10	0.62326	D	0.03	-0.0145	6.3415	0.21324	0.3727:0.5266:0.1008:0.0	.	221	P41218	MNDA_HUMAN	V	221	ENSP00000357123:A221V	ENSP00000357123:A221V	A	+	2	0	MNDA	157082092	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.375000	0.20518	-0.338000	0.08413	-0.266000	0.10368	GCG		0.468	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		8	44	0	0	0	1	0	8	44				
BMP3	651	broad.mit.edu	37	4	81967316	81967316	+	Silent	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr4:81967316C>T	ENST00000282701.2	+	2	1061	c.741C>T	c.(739-741)gcC>gcT	p.A247A		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	247					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CCAATGATGCCGCCATTTCTG	0.483																																						ENST00000282701.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(739-741)gcC>gcT		bone morphogenetic protein 3							98.0	100.0	99.0					4																	81967316		2203	4300	6503	SO:0001819	synonymous_variant	651				cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr4:81967316C>T	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"""Bone morphogenetic proteins"""	1070	protein-coding gene	gene with protein product	"""osteogenin"""	112263	"""bone morphogenetic protein 3 (osteogenic)"""				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.741C>T	4.37:g.81967316C>T							p.A247A	NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN			2	1061	+			247					Q4VAS5	Silent	SNP	ENST00000282701.2	37	c.741C>T	CCDS3588.1																																																																																				0.483	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			20	87	0	0	0	1	0	20	87				
ZNF777	27153	broad.mit.edu	37	7	149152540	149152540	+	Missense_Mutation	SNP	C	C	T	rs201502980		TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr7:149152540C>T	ENST00000247930.4	-	2	897	c.574G>A	c.(574-576)Gtc>Atc	p.V192I		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	192					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			ACTGCTTGGACGGCAGCCCAC	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		15872	0.001		0.0	False		,,,				2504	0.0					ENST00000247930.4																			0				large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(574-576)Gtc>Atc		zinc finger protein 777							63.0	72.0	69.0					7																	149152540		2165	4276	6441	SO:0001583	missense	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149152540C>T	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.574G>A	7.37:g.149152540C>T	ENSP00000247930:p.Val192Ile						p.V192I	NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		2	897	-	Melanoma(164;0.165)		192					Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	37	c.574G>A	CCDS43675.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	9.069	0.996413	0.19043	.	.	ENSG00000196453	ENST00000247930	T	0.04917	3.53	4.93	3.83	0.44106	.	0.177512	0.27105	N	0.020914	T	0.02767	0.0083	N	0.03000	-0.44	0.26610	N	0.972852	B	0.20459	0.045	B	0.11329	0.006	T	0.38222	-0.9671	10	0.38643	T	0.18	-25.1678	9.078	0.36534	0.0:0.8822:0.0:0.1178	.	192	Q9ULD5-2	.	I	192	ENSP00000247930:V192I	ENSP00000247930:V192I	V	-	1	0	ZNF777	148783473	0.002000	0.14202	1.000000	0.80357	0.996000	0.88848	-0.018000	0.12568	2.286000	0.76751	0.655000	0.94253	GTC		0.587	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		23	116	0	0	0	1	0	23	116				
FGF14	2259	broad.mit.edu	37	13	102375254	102375254	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr13:102375254G>A	ENST00000376143.4	-	5	670	c.671C>T	c.(670-672)aCg>aTg	p.T224M	ITGBL1_ENST00000415285.1_3'UTR|FGF14_ENST00000376131.4_Missense_Mutation_p.T229M	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	224					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.T224M(1)|p.T229M(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTTACTTGGCGTCACCCCAGG	0.473																																						ENST00000376131.4																			2	Substitution - Missense(2)	p.T224M(1)|p.T229M(1)	large_intestine(2)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29						c.(685-687)aCg>aTg		fibroblast growth factor 14							267.0	201.0	224.0					13																	102375254		2203	4300	6503	SO:0001583	missense	2259				cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	g.chr13:102375254G>A		CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.671C>T	13.37:g.102375254G>A	ENSP00000365313:p.Thr224Met					ITGBL1_ENST00000415285.1_3'UTR|FGF14_ENST00000376143.4_Missense_Mutation_p.T224M	p.T229M	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN			5	781	-	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		224					Q86YN7|Q96QX6	Missense_Mutation	SNP	ENST00000376143.4	37	c.686C>T	CCDS9501.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925108	0.73213	.	.	ENSG00000102466	ENST00000376131;ENST00000376143	T;T	0.79454	-1.27;-1.19	5.65	5.65	0.86999	.	0.181513	0.52532	D	0.000065	T	0.82268	0.5000	L	0.32530	0.975	0.54753	D	0.999989	D;D	0.76494	0.999;0.982	P;P	0.61397	0.888;0.684	D	0.83575	0.0114	10	0.66056	D	0.02	.	19.7432	0.96238	0.0:0.0:1.0:0.0	.	229;224	Q92915-2;Q92915	.;FGF14_HUMAN	M	229;224	ENSP00000365301:T229M;ENSP00000365313:T224M	ENSP00000365301:T229M	T	-	2	0	FGF14	101173255	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.663000	0.90544	0.563000	0.77884	ACG		0.473	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045679.2			10	76	0	0	0	1	0	10	76				
FES	2242	broad.mit.edu	37	15	91436545	91436545	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr15:91436545G>A	ENST00000328850.3	+	16	2088	c.1946G>A	c.(1945-1947)cGc>cAc	p.R649H	FES_ENST00000394302.1_Missense_Mutation_p.R508H|FES_ENST00000444422.2_Missense_Mutation_p.R579H|FES_ENST00000450438.2_Missense_Mutation_p.R521H|FES_ENST00000414248.2_Missense_Mutation_p.R521H|FES_ENST00000394300.3_Missense_Mutation_p.R591H	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	649	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			ACCTTCCTCCGCACGGAGGGG	0.672																																						ENST00000328850.3																			0				lung(2)|ovary(1)	3						c.(1945-1947)cGc>cAc		feline sarcoma oncogene							18.0	21.0	20.0					15																	91436545		2195	4294	6489	SO:0001583	missense	2242				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:91436545G>A	X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"""SH2 domain containing"""	3657	protein-coding gene	gene with protein product	"""Oncogene FES, feline sarcoma virus"", ""c-fes/fps protein"""	190030	"""feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog"", ""feline sarcoma oncogene"""			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.1946G>A	15.37:g.91436545G>A	ENSP00000331504:p.Arg649His					FES_ENST00000444422.2_Missense_Mutation_p.R579H|FES_ENST00000414248.2_Missense_Mutation_p.R521H|FES_ENST00000450438.2_Missense_Mutation_p.R521H|FES_ENST00000394300.3_Missense_Mutation_p.R591H|FES_ENST00000394302.1_Missense_Mutation_p.R508H	p.R649H	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	Lung(145;0.229)		16	2088	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		649			Protein kinase.		B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Missense_Mutation	SNP	ENST00000328850.3	37	c.1946G>A	CCDS10365.1	.	.	.	.	.	.	.	.	.	.	G	36	5.611133	0.96637	.	.	ENSG00000182511	ENST00000328850;ENST00000414248;ENST00000394302;ENST00000444422;ENST00000394300;ENST00000450438	D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	5.42	5.42	0.78866	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.051377	0.85682	D	0.000000	D	0.89315	0.6680	L	0.52573	1.65	0.80722	D	1	D;D;P;D;D;D	0.89917	0.996;1.0;0.887;0.995;1.0;0.996	P;D;P;P;D;P	0.80764	0.664;0.994;0.464;0.534;0.993;0.664	D	0.89256	0.3594	10	0.59425	D	0.04	-57.6603	19.6452	0.95773	0.0:0.0:1.0:0.0	.	631;521;508;591;579;649	B4DUD9;P07332-2;E7ENM8;P07332-3;P07332-4;P07332	.;.;.;.;.;FES_HUMAN	H	649;521;508;579;591;521	ENSP00000331504:R649H;ENSP00000414629:R521H;ENSP00000377839:R508H;ENSP00000400868:R579H;ENSP00000377837:R591H;ENSP00000409915:R521H	ENSP00000331504:R649H	R	+	2	0	FES	89237549	1.000000	0.71417	0.329000	0.25429	0.943000	0.58893	9.624000	0.98398	2.720000	0.93068	0.555000	0.69702	CGC		0.672	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	NM_002005		5	25	0	0	0	1	0	5	25				
MS4A6A	64231	broad.mit.edu	37	11	59949075	59949075	+	Silent	SNP	G	G	A	rs113133013	byFrequency	TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr11:59949075G>A	ENST00000530839.1	-	3	618	c.126C>T	c.(124-126)caC>caT	p.H42H	MS4A6A_ENST00000323961.3_Silent_p.H42H|MS4A6A_ENST00000426738.2_Silent_p.H42H|MS4A6A_ENST00000533023.1_Silent_p.H42H|MS4A6A_ENST00000529054.1_Silent_p.H70H|MS4A6A_ENST00000528851.1_Silent_p.H42H|MS4A6A_ENST00000420732.2_Silent_p.H42H|MS4A6A_ENST00000412309.2_Silent_p.H70H|MS4A6A_ENST00000529906.1_5'Flank|MS4A6A_ENST00000532169.1_Silent_p.H42H	NM_152852.2	NP_690591.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	42						integral component of membrane (GO:0016021)		p.H42H(1)		endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGATTTCTGCGTGTAGATGTT	0.468													G|||	2	0.000399361	0.0015	0.0	5008	,	,		3887	0.0		0.0	False		,,,				2504	0.0					ENST00000528851.1																			1	Substitution - coding silent(1)	p.H42H(1)	large_intestine(1)	endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(124-126)caC>caT		membrane-spanning 4-domains, subfamily A, member 6A							185.0	172.0	177.0					11																	59949075		2201	4295	6496	SO:0001819	synonymous_variant	64231					integral to membrane	receptor activity	g.chr11:59949075G>A	AB013104	CCDS7981.1, CCDS44615.1, CCDS44616.1, CCDS58134.1	11q12.1	2008-03-25			ENSG00000110077	ENSG00000110077			13375	protein-coding gene	gene with protein product		606548		MS4A6		11245982, 11401424	Standard	NM_152852		Approved	CD20L3	uc010rla.2	Q9H2W1	OTTHUMG00000167241	ENST00000530839.1:c.126C>T	11.37:g.59949075G>A						MS4A6A_ENST00000426738.2_Silent_p.H42H|MS4A6A_ENST00000530839.1_Silent_p.H42H|MS4A6A_ENST00000323961.3_Silent_p.H42H|MS4A6A_ENST00000529054.1_Silent_p.H70H|MS4A6A_ENST00000532169.1_Silent_p.H42H|MS4A6A_ENST00000412309.2_Silent_p.H70H|MS4A6A_ENST00000533023.1_Silent_p.H42H|MS4A6A_ENST00000420732.2_Silent_p.H42H	p.H42H			Q9H2W1	M4A6A_HUMAN			2	266	-			42					A8K755|F8W9K1|Q7Z4E8|Q8TBV7|Q8TEZ4|Q8TEZ5|Q96PG6|Q9H2L1|Q9H2N3|Q9H3V1|Q9HC76	Silent	SNP	ENST00000530839.1	37	c.126C>T	CCDS7981.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	3.044	-0.196825	0.06259	.	.	ENSG00000110077	ENST00000533989	.	.	.	4.72	-0.287	0.12858	.	.	.	.	.	T	0.28962	0.0719	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27331	-1.0077	4	.	.	.	.	5.8555	0.18716	0.0:0.5893:0.1483:0.2625	.	.	.	.	M	22	.	.	T	-	2	0	MS4A6A	59705651	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.295000	0.08298	-0.222000	0.09958	-0.724000	0.03597	ACG		0.468	MS4A6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393848.1			29	95	0	0	0	1	0	29	95				
SMR3A	26952	broad.mit.edu	37	4	71232487	71232487	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr4:71232487G>T	ENST00000226460.4	+	3	277	c.181G>T	c.(181-183)Ggg>Tgg	p.G61W		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	61	Pro-rich.					extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				CTATGGTCCAGGGAGATTTCC	0.552																																						ENST00000226460.4																			0				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15						c.(181-183)Ggg>Tgg		submaxillary gland androgen regulated protein 3A							146.0	137.0	140.0					4																	71232487		2203	4300	6503	SO:0001583	missense	26952					extracellular region		g.chr4:71232487G>T	D89501	CCDS34000.1	4q13.3	2009-04-17	2008-02-27	2005-02-07	ENSG00000109208	ENSG00000109208			19216	protein-coding gene	gene with protein product			"""proline rich 5 (salivary)"", ""submaxillary gland androgen regulated protein 3 homolog A (mouse)"""	PROL5		9354371, 17512016	Standard	NM_012390		Approved	PBI, PRL5	uc003hfg.1	Q99954	OTTHUMG00000160839	ENST00000226460.4:c.181G>T	4.37:g.71232487G>T	ENSP00000226460:p.Gly61Trp						p.G61W	NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN			3	277	+		all_hematologic(202;0.196)	61			Pro-rich.			Missense_Mutation	SNP	ENST00000226460.4	37	c.181G>T	CCDS34000.1	.	.	.	.	.	.	.	.	.	.	G	3.953	-0.011875	0.07727	.	.	ENSG00000109208	ENST00000226460	T	0.38240	1.15	2.18	2.18	0.27775	.	.	.	.	.	T	0.44030	0.1274	L	0.29908	0.895	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.14227	-1.0480	9	0.87932	D	0	.	7.9158	0.29816	0.0:0.0:1.0:0.0	.	61	Q99954	SMR3A_HUMAN	W	61	ENSP00000226460:G61W	ENSP00000226460:G61W	G	+	1	0	SMR3A	71267076	0.045000	0.20229	0.054000	0.19295	0.083000	0.17756	1.596000	0.36718	1.540000	0.49301	0.491000	0.48974	GGG		0.552	SMR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362574.1	NM_012390		13	80	1	0	9.05144e-12	1	9.85601e-12	13	80				
LACE1	246269	broad.mit.edu	37	6	108645100	108645100	+	Missense_Mutation	SNP	G	G	A	rs186208029	byFrequency	TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr6:108645100G>A	ENST00000368977.4	+	2	397	c.211G>A	c.(211-213)Gtt>Att	p.V71I		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	71						mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		AGCTTTGGCCGTTTGCCATGG	0.398													G|||	2	0.000399361	0.0008	0.0	5008	,	,		16535	0.001		0.0	False		,,,				2504	0.0					ENST00000368977.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15						c.(211-213)Gtt>Att		lactation elevated 1		G	ILE/VAL	0,4406		0,0,2203	113.0	104.0	107.0		211	1.3	1.0	6		107	1,8599	1.2+/-3.3	0,1,4299	no	missense	LACE1	NM_145315.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	71/482	108645100	1,13005	2203	4300	6503	SO:0001583	missense	246269						ATP binding	g.chr6:108645100G>A	AF520418	CCDS5067.1	6q22.1	2006-11-10			ENSG00000135537	ENSG00000135537			16411	protein-coding gene	gene with protein product	"""ATPase family gene 1 homolog (S. cerevisiae)"""					12079282	Standard	XM_005266885		Approved	AFG1	uc003psj.3	Q8WV93	OTTHUMG00000015324	ENST00000368977.4:c.211G>A	6.37:g.108645100G>A	ENSP00000357973:p.Val71Ile						p.V71I	NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)	2	397	+		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)	71					Q8N6A3	Missense_Mutation	SNP	ENST00000368977.4	37	c.211G>A	CCDS5067.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	7.950	0.744568	0.15710	0.0	1.16E-4	ENSG00000135537	ENST00000368977;ENST00000437715	.	.	.	5.33	1.31	0.21738	.	0.569694	0.16571	N	0.208655	T	0.08582	0.0213	L	0.32530	0.975	0.27479	N	0.952636	B	0.09022	0.002	B	0.08055	0.003	T	0.29761	-1.0001	9	0.18276	T	0.48	-2.8037	1.8835	0.03233	0.2789:0.1256:0.4661:0.1294	.	71	Q8WV93	LACE1_HUMAN	I	71;38	.	ENSP00000357973:V71I	V	+	1	0	LACE1	108751793	1.000000	0.71417	0.998000	0.56505	0.416000	0.31233	1.231000	0.32624	0.220000	0.20860	0.549000	0.68633	GTT		0.398	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041719.4	NM_145315		24	133	0	0	0	1	0	24	133				
ISLR2	57611	broad.mit.edu	37	15	74425299	74425299	+	Silent	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr15:74425299C>T	ENST00000361742.3	+	4	973	c.204C>T	c.(202-204)cgC>cgT	p.R68R	ISLR2_ENST00000565540.1_Silent_p.R68R|ISLR2_ENST00000445793.1_Silent_p.R68R|ISLR2_ENST00000453268.2_Silent_p.R68R|ISLR2_ENST00000435464.1_Silent_p.R68R|ISLR2_ENST00000419208.1_Silent_p.R68R|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Silent_p.R68R	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	68					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						TGCTGCGGCGCGGGGCCTTCG	0.642																																						ENST00000361742.3																			0				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						c.(202-204)cgC>cgT		immunoglobulin superfamily containing leucine-rich repeat 2							59.0	51.0	54.0					15																	74425299		2198	4297	6495	SO:0001819	synonymous_variant	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74425299C>T		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.204C>T	15.37:g.74425299C>T						ISLR2_ENST00000445793.1_Silent_p.R68R|ISLR2_ENST00000435464.1_Silent_p.R68R|ISLR2_ENST00000565540.1_Silent_p.R68R|ISLR2_ENST00000419208.1_Silent_p.R68R|ISLR2_ENST00000453268.2_Silent_p.R68R|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Silent_p.R68R	p.R68R	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN			4	973	+			68					A8K352|Q9P263	Silent	SNP	ENST00000361742.3	37	c.204C>T	CCDS10259.1																																																																																				0.642	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		4	61	0	0	0	1	0	4	61				
SH3RF2	153769	broad.mit.edu	37	5	145379666	145379666	+	Missense_Mutation	SNP	G	G	A	rs376743854	byFrequency	TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr5:145379666G>A	ENST00000511217.1	+	2	476	c.424G>A	c.(424-426)Ggt>Agt	p.G142S	SH3RF2_ENST00000359120.4_Missense_Mutation_p.G142S			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	142	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAGAATCCCGGTGACCTAAG	0.483													G|||	2	0.000399361	0.0008	0.0	5008	,	,		15104	0.001		0.0	False		,,,				2504	0.0					ENST00000511217.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22						c.(424-426)Ggt>Agt		SH3 domain containing ring finger 2		G	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	67.0	67.0	67.0		424	5.2	1.0	5		67	0,8600		0,0,4300	no	missense	SH3RF2	NM_152550.3	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	142/730	145379666	1,13005	2203	4300	6503	SO:0001583	missense	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145379666G>A	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26299	protein-coding gene	gene with protein product	"""heart protein phosphatase 1-binding protein"", ""POSH-eliminating RING protein"""	613377	"""protein phosphatase 1, regulatory subunit 39"""	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.424G>A	5.37:g.145379666G>A	ENSP00000424497:p.Gly142Ser					SH3RF2_ENST00000359120.4_Missense_Mutation_p.G142S	p.G142S			Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	476	+			142			SH3 1.		A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Missense_Mutation	SNP	ENST00000511217.1	37	c.424G>A	CCDS4280.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.150468	0.57151	2.27E-4	0.0	ENSG00000156463	ENST00000359120;ENST00000511217	T;T	0.30714	1.52;1.52	6.17	5.21	0.72293	Src homology-3 domain (3);Variant SH3 (1);	0.192385	0.47455	D	0.000223	T	0.28797	0.0714	M	0.72353	2.195	0.50813	D	0.999893	P	0.46621	0.881	B	0.36464	0.225	T	0.04216	-1.0968	10	0.33141	T	0.24	-17.667	10.4262	0.44380	0.167:0.0:0.833:0.0	.	142	Q8TEC5	SH3R2_HUMAN	S	142	ENSP00000352028:G142S;ENSP00000424497:G142S	ENSP00000352028:G142S	G	+	1	0	SH3RF2	145359859	1.000000	0.71417	0.975000	0.42487	0.822000	0.46500	5.383000	0.66219	2.941000	0.99782	0.655000	0.94253	GGT		0.483	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		12	56	0	0	0	1	0	12	56				
MUC15	143662	broad.mit.edu	37	11	26584679	26584679	+	Silent	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr11:26584679G>A	ENST00000455601.2	-	3	946	c.828C>T	c.(826-828)gaC>gaT	p.D276D	ANO3_ENST00000256737.3_Intron|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000436318.2_Silent_p.D303D|MUC15_ENST00000281268.8_Intron|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000527569.1_Intron|ANO3_ENST00000529242.1_3'UTR|MUC15_ENST00000529533.1_Silent_p.D303D	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	276					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D276D(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						CATTTCTGTCGTCATAAAGTC	0.408																																						ENST00000436318.2																			2	Substitution - coding silent(2)	p.D276D(2)	ovary(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(907-909)gaC>gaT		mucin 15, cell surface associated							91.0	92.0	91.0					11																	26584679		2203	4300	6503	SO:0001819	synonymous_variant	143662					extracellular region|integral to membrane|plasma membrane		g.chr11:26584679G>A	AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"""Mucins"""	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.828C>T	11.37:g.26584679G>A						MUC15_ENST00000455601.2_Silent_p.D276D|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000281268.8_Intron|MUC15_ENST00000527569.1_Intron|ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000529533.1_Silent_p.D303D	p.D303D			Q8N387	MUC15_HUMAN			3	1042	-			276					B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Silent	SNP	ENST00000455601.2	37	c.909C>T	CCDS7859.1																																																																																				0.408	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1	NM_145650		22	102	0	0	0	1	0	22	102				
OR4X2	119764	broad.mit.edu	37	11	48266656	48266656	+	Start_Codon_SNP	SNP	A	A	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr11:48266656A>T	ENST00000302329.3	+	1	49	c.1A>T	c.(1-3)Atg>Ttg	p.M1L		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	1						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CATACACAACATGACTGAATT	0.418																																						ENST00000302329.3																			0				breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1-3)Atg>Ttg		olfactory receptor, family 4, subfamily X, member 2							149.0	124.0	133.0					11																	48266656		2201	4298	6499	SO:0001582	initiator_codon_variant	119764				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48266656A>T	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"""GPCR / Class A : Olfactory receptors"""	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.1A>T	11.37:g.48266656A>T	ENSP00000307751:p.Met1Leu						p.M1L	NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN			1	49	+			1					B2RNK3|Q6IF73|Q96R63	Translation_Start_Site	SNP	ENST00000302329.3	37	c.1A>T	CCDS31486.1	.	.	.	.	.	.	.	.	.	.	A	7.798	0.713022	0.15306	.	.	ENSG00000172208	ENST00000302329	T	0.00444	7.4	5.17	3.31	0.37934	.	0.139794	0.32314	N	0.006274	T	0.00300	0.0009	.	.	.	0.52501	D	0.999951	B	0.11235	0.004	B	0.04013	0.001	T	0.69379	-0.5161	9	0.87932	D	0	.	7.938	0.29941	0.19:0.0:0.81:0.0	.	1	Q8NGF9	OR4X2_HUMAN	L	1	ENSP00000307751:M1L	ENSP00000307751:M1L	M	+	1	0	OR4X2	48223232	0.002000	0.14202	0.915000	0.36163	0.071000	0.16799	0.076000	0.14712	0.577000	0.29470	-0.766000	0.03442	ATG		0.418	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	NM_001004727	Missense_Mutation	7	79	0	0	0	1	0	7	79				
SPTBN5	51332	broad.mit.edu	37	15	42166142	42166142	+	Silent	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr15:42166142G>A	ENST00000320955.6	-	25	5018	c.4791C>T	c.(4789-4791)atC>atT	p.I1597I		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1597					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		ACTGCTCCACGATGTGTTGGG	0.647																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(4789-4791)atC>atT		spectrin, beta, non-erythrocytic 5							39.0	45.0	43.0					15																	42166142		2053	4223	6276	SO:0001819	synonymous_variant	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42166142G>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.4791C>T	15.37:g.42166142G>A							p.I1597I	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	25	5018	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1597						Silent	SNP	ENST00000320955.6	37	c.4791C>T																																																																																					0.647	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		4	33	0	0	0	1	0	4	33				
CNTN4	152330	broad.mit.edu	37	3	2787238	2787238	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr3:2787238G>T	ENST00000397461.1	+	5	599	c.215G>T	c.(214-216)gGt>gTt	p.G72V	CNTN4_ENST00000418658.1_Missense_Mutation_p.G72V|CNTN4_ENST00000427331.1_Missense_Mutation_p.G72V	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	72	Ig-like C2-type 1.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GTTGACACTGGTATGGATTTC	0.378																																						ENST00000397461.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(214-216)gGt>gTt		contactin 4							174.0	161.0	165.0					3																	2787238		1858	4103	5961	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2787238G>T	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.215G>T	3.37:g.2787238G>T	ENSP00000380602:p.Gly72Val					CNTN4_ENST00000418658.1_Missense_Mutation_p.G72V|CNTN4_ENST00000427331.1_Missense_Mutation_p.G72V	p.G72V	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	5	599	+		Ovarian(110;0.156)	72			Ig-like C2-type 1.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.215G>T	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.961118	0.34565	.	.	ENSG00000144619	ENST00000422330;ENST00000418658;ENST00000397461;ENST00000434053;ENST00000427331	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.6	4.73	0.59995	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.202678	0.44285	D	0.000472	T	0.39384	0.1076	L	0.33668	1.02	0.43608	D	0.995971	P;P	0.35780	0.52;0.52	B;B	0.40825	0.341;0.197	T	0.19647	-1.0299	10	0.32370	T	0.25	.	9.7916	0.40708	0.073:0.1402:0.7868:0.0	.	72;72	B3KTK4;Q8IWV2	.;CNTN4_HUMAN	V	72;72;72;90;72	ENSP00000408594:G72V;ENSP00000396010:G72V;ENSP00000380602:G72V;ENSP00000404085:G90V;ENSP00000413642:G72V	ENSP00000380602:G72V	G	+	2	0	CNTN4	2762238	0.965000	0.33210	0.822000	0.32727	0.995000	0.86356	3.121000	0.50438	1.361000	0.45981	0.655000	0.94253	GGT		0.378	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			31	113	1	0	1.60099e-16	1	1.78292e-16	31	113				
PNMA3	29944	broad.mit.edu	37	X	152226591	152226591	+	Silent	SNP	A	A	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chrX:152226591A>T	ENST00000370264.4	+	1	1205	c.1179A>T	c.(1177-1179)cgA>cgT	p.R393R	PNMA3_ENST00000370265.4_Silent_p.R393R|PNMA3_ENST00000447306.1_Silent_p.R393R			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	393	Arg-rich.				positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					GCCAACACCGAAGGGGTGGTG	0.607																																						ENST00000447306.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(1177-1179)cgA>cgT		paraneoplastic Ma antigen 3							49.0	50.0	50.0					X																	152226591		2203	4300	6503	SO:0001819	synonymous_variant	29944				apoptosis	nucleolus	nucleic acid binding|zinc ion binding	g.chrX:152226591A>T	AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"""Paraneoplastic Ma antigens"""	18742	protein-coding gene	gene with protein product	"""paraneoplastic cancer-testis-brain antigen"""	300675	"""paraneoplastic antigen MA3"""			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.1179A>T	X.37:g.152226591A>T						PNMA3_ENST00000370264.4_Silent_p.R393R|PNMA3_ENST00000370265.4_Silent_p.R393R	p.R393R	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN			2	1515	+	Acute lymphoblastic leukemia(192;6.56e-05)		393			Arg-rich.		D3DWT7|Q9H0A4	Silent	SNP	ENST00000370264.4	37	c.1179A>T	CCDS35435.2																																																																																				0.607	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060946.2	NM_013364		7	54	0	0	0	1	0	7	54				
KAT5	10524	broad.mit.edu	37	11	65486590	65486590	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr11:65486590C>T	ENST00000377046.3	+	14	1752	c.1480C>T	c.(1480-1482)Cgg>Tgg	p.R494W	RNASEH2C_ENST00000308418.4_3'UTR|KAT5_ENST00000352980.4_Missense_Mutation_p.R442W|KAT5_ENST00000534650.1_Missense_Mutation_p.R283W|KAT5_ENST00000530446.1_Missense_Mutation_p.R475W|KAT5_ENST00000341318.4_Missense_Mutation_p.R527W	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	494	Interaction with ATF2.|MYST-type HAT.				androgen receptor signaling pathway (GO:0030521)|cellular response to estradiol stimulus (GO:0071392)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|double-strand break repair (GO:0006302)|histone acetylation (GO:0016573)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of growth (GO:0040008)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|repressing transcription factor binding (GO:0070491)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						GCGGCTCCTGCGGATCGACTC	0.607																																						ENST00000341318.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						c.(1579-1581)Cgg>Tgg		K(lysine) acetyltransferase 5							71.0	56.0	61.0					11																	65486590		2201	4297	6498	SO:0001583	missense	10524				androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity	g.chr11:65486590C>T	U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	5275	protein-coding gene	gene with protein product	"""Tat interacting protein, 60kDa"", ""K-acetyltransferase 5"""	601409	"""HIV-1 Tat interactive protein, 60kDa"""	HTATIP		8607265	Standard	NM_006388		Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000377046.3:c.1480C>T	11.37:g.65486590C>T	ENSP00000366245:p.Arg494Trp					KAT5_ENST00000534650.1_Missense_Mutation_p.R283W|KAT5_ENST00000530446.1_Missense_Mutation_p.R475W|KAT5_ENST00000377046.3_Missense_Mutation_p.R494W|KAT5_ENST00000352980.4_Missense_Mutation_p.R442W|RNASEH2C_ENST00000308418.4_3'UTR	p.R527W	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN			13	1813	+			494					B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	Missense_Mutation	SNP	ENST00000377046.3	37	c.1579C>T	CCDS31610.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120789	0.77436	.	.	ENSG00000172977	ENST00000377046;ENST00000352980;ENST00000341318;ENST00000530446;ENST00000534650	T;T;T;T	0.48201	0.83;0.85;0.82;0.84	4.5	3.58	0.41010	Acyl-CoA N-acyltransferase (1);	0.000000	0.85682	D	0.000000	T	0.70072	0.3182	M	0.88842	2.985	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.999;0.996	T	0.73911	-0.3833	10	0.87932	D	0	-13.1665	9.6417	0.39844	0.3797:0.6203:0.0:0.0	.	475;527;442;494	B4E3C7;Q92993-3;Q92993-2;Q92993	.;.;.;KAT5_HUMAN	W	494;442;527;475;283	ENSP00000366245:R494W;ENSP00000344955:R442W;ENSP00000340330:R527W;ENSP00000434765:R475W	ENSP00000340330:R527W	R	+	1	2	KAT5	65243166	1.000000	0.71417	0.642000	0.29436	0.965000	0.64279	4.216000	0.58540	1.095000	0.41419	0.555000	0.69702	CGG		0.607	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390866.2	NM_006388		8	32	0	0	0	1	0	8	32				
ZBED9	114821	broad.mit.edu	37	6	28539970	28539970	+	Silent	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr6:28539970G>A	ENST00000452236.2	-	4	4313	c.3696C>T	c.(3694-3696)acC>acT	p.T1232T		NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						atccttcgtcggtagccagct	0.343																																						ENST00000452236.2																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(3694-3696)acC>acT		SCAN domain containing 3							47.0	49.0	48.0					6																	28539970		2203	4300	6503	SO:0001819	synonymous_variant	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28539970G>A																												ENST00000452236.2:c.3696C>T	6.37:g.28539970G>A							p.T1232T	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			4	4313	-			1232						Silent	SNP	ENST00000452236.2	37	c.3696C>T	CCDS34355.1																																																																																				0.343	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			10	56	0	0	0	1	0	10	56				
PIK3C2B	5287	broad.mit.edu	37	1	204438817	204438817	+	Silent	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr1:204438817G>A	ENST00000367187.3	-	3	670	c.114C>T	c.(112-114)tcC>tcT	p.S38S	PIK3C2B_ENST00000424712.2_Silent_p.S38S	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	38	Interaction with GRB2.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GCCGGAGCCGGGACAGGGCAT	0.587																																						ENST00000367187.3																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(112-114)tcC>tcT		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							72.0	61.0	64.0					1																	204438817		2203	4300	6503	SO:0001819	synonymous_variant	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204438817G>A	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.114C>T	1.37:g.204438817G>A						PIK3C2B_ENST00000424712.2_Silent_p.S38S	p.S38S	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		3	670	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		38			Interaction with GRB2.		O95666|Q5SW99	Silent	SNP	ENST00000367187.3	37	c.114C>T	CCDS1446.1																																																																																				0.587	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		13	469	0	0	0	1	0	13	469				
MS4A7	58475	broad.mit.edu	37	11	60152586	60152586	+	Missense_Mutation	SNP	T	T	G			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr11:60152586T>G	ENST00000300184.3	+	3	369	c.173T>G	c.(172-174)tTg>tGg	p.L58W	MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000530234.2_Missense_Mutation_p.L58W|MS4A7_ENST00000534016.1_Intron|MS4A7_ENST00000358246.1_Intron	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	58						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						TGTTGCCTGTTGATTTCAAGT	0.438																																						ENST00000300184.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						c.(172-174)tTg>tGg		membrane-spanning 4-domains, subfamily A, member 7							170.0	168.0	169.0					11																	60152586		2203	4300	6503	SO:0001583	missense	58475					integral to membrane	receptor activity	g.chr11:60152586T>G	AB026043	CCDS7985.1, CCDS7986.1	11q12	2008-03-25				ENSG00000166927			13378	protein-coding gene	gene with protein product		606502				11245982, 11401424	Standard	NM_021201		Approved	CD20L4, CFFM4, MS4A8	uc001npf.3	Q9GZW8		ENST00000300184.3:c.173T>G	11.37:g.60152586T>G	ENSP00000300184:p.Leu58Trp					MS4A7_ENST00000358246.1_Intron|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000530234.2_Missense_Mutation_p.L58W|MS4A7_ENST00000534016.1_Intron	p.L58W	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN			3	369	+			58					A6NP53|Q6IAG8	Missense_Mutation	SNP	ENST00000300184.3	37	c.173T>G	CCDS7985.1	.	.	.	.	.	.	.	.	.	.	T	8.991	0.977620	0.18812	.	.	ENSG00000166927	ENST00000300184;ENST00000530234	T;T	0.02787	4.16;4.16	3.91	-0.915	0.10494	.	1.154680	0.06490	N	0.734463	T	0.04363	0.0120	L	0.41824	1.3	0.09310	N	1	P	0.38922	0.651	B	0.43536	0.423	T	0.45687	-0.9244	10	0.62326	D	0.03	-45.2199	7.1159	0.25416	0.0:0.4418:0.0:0.5582	.	58	Q9GZW8	MS4A7_HUMAN	W	58	ENSP00000300184:L58W;ENSP00000433184:L58W	ENSP00000300184:L58W	L	+	2	0	MS4A7	59909162	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	0.194000	0.17135	-0.174000	0.10743	-0.371000	0.07208	TTG		0.438	MS4A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394299.1			18	124	0	0	0	1	0	18	124				
TMEM201	199953	broad.mit.edu	37	1	9661231	9661231	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr1:9661231C>A	ENST00000340381.6	+	5	684	c.675C>A	c.(673-675)tgC>tgA	p.C225*	TMEM201_ENST00000340305.5_Nonsense_Mutation_p.C225*|TMEM201_ENST00000377376.4_Nonsense_Mutation_p.C225*	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	225					fibroblast migration (GO:0010761)|nuclear migration (GO:0007097)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		TCCTGGCCTGCGCCTTCCTAC	0.657																																						ENST00000340305.5																			0				lung(3)|upper_aerodigestive_tract(1)	4						c.(673-675)tgC>tgA		transmembrane protein 201							72.0	74.0	73.0					1																	9661231		2203	4300	6503	SO:0001587	stop_gained	199953					integral to membrane|nuclear inner membrane		g.chr1:9661231C>A		CCDS30579.1, CCDS44055.1, CCDS44055.2	1p36.22	2009-11-06			ENSG00000188807	ENSG00000188807			33719	protein-coding gene	gene with protein product							Standard	NM_001130924		Approved	RP13-15M17.2, NET5	uc021ofy.1	Q5SNT2	OTTHUMG00000057457	ENST00000340381.6:c.675C>A	1.37:g.9661231C>A	ENSP00000344503:p.Cys225*					TMEM201_ENST00000377376.4_Nonsense_Mutation_p.C225*|TMEM201_ENST00000340381.6_Nonsense_Mutation_p.C225*	p.C225*	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)	5	684	+	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	225					B9EH90|Q5SNT3	Nonsense_Mutation	SNP	ENST00000340381.6	37	c.675C>A	CCDS44055.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.7|24.7	4.560379|4.560379	0.86335|0.86335	.|.	.|.	ENSG00000188807|ENSG00000188807	ENST00000377376;ENST00000340305;ENST00000340381|ENST00000416541	.|.	.|.	.|.	4.98|4.98	-3.56|-3.56	0.04626|0.04626	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.47525	.|0.1450	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.54774	.|-0.8243	.|3	0.02654|.	T|.	1|.	-18.0363|-18.0363	12.1995|12.1995	0.54317|0.54317	0.0:0.252:0.0:0.748|0.0:0.252:0.0:0.748	.|.	.|.	.|.	.|.	X|S	225|135	.|.	ENSP00000344772:C225X|.	C|R	+|+	3|1	2|0	TMEM201|TMEM201	9583818|9583818	0.043000|0.043000	0.20138|0.20138	0.955000|0.955000	0.39395|0.39395	0.857000|0.857000	0.48899|0.48899	-0.843000|-0.843000	0.04350|0.04350	-0.843000|-0.843000	0.04189|0.04189	0.563000|0.563000	0.77884|0.77884	TGC|CGC		0.657	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127672.1	NM_001010866		4	96	1	0	0.014758	1	0.014758	4	96				
MYH7	4625	broad.mit.edu	37	14	23887583	23887583	+	Silent	SNP	C	C	T	rs144465613	byFrequency	TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr14:23887583C>T	ENST00000355349.3	-	30	4167	c.4005G>A	c.(4003-4005)tcG>tcA	p.S1335S	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1335					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.S1335S(3)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATGCCGGGCCGACTGCAGTG	0.662													C|||	3	0.000599042	0.0023	0.0	5008	,	,		18907	0.0		0.0	False		,,,				2504	0.0					ENST00000355349.3																			3	Substitution - coding silent(3)	p.S1335S(3)	central_nervous_system(2)|lung(1)	NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(4003-4005)tcG>tcA		myosin, heavy chain 7, cardiac muscle, beta		C		9,4397	15.5+/-35.6	0,9,2194	35.0	34.0	34.0		4005	-9.9	0.2	14	dbSNP_134	34	0,8600		0,0,4300	no	coding-synonymous	MYH7	NM_000257.2		0,9,6494	TT,TC,CC		0.0,0.2043,0.0692		1335/1936	23887583	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23887583C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4005G>A	14.37:g.23887583C>T							p.S1335S	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	30	4167	-	all_cancers(95;2.54e-05)		1335					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.4005G>A	CCDS9601.1																																																																																				0.662	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		3	46	0	0	0	1	0	3	46				
ANKRD11	29123	broad.mit.edu	37	16	89348857	89348857	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr16:89348857G>A	ENST00000301030.4	-	9	4553	c.4093C>T	c.(4093-4095)Cga>Tga	p.R1365*	ANKRD11_ENST00000378330.2_Nonsense_Mutation_p.R1365*	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1365	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTCTTGGCTCGCTCTCGGTCG	0.562																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(4093-4095)Cga>Tga		ankyrin repeat domain 11							97.0	85.0	89.0					16																	89348857		2198	4300	6498	SO:0001587	stop_gained	29123					nucleus		g.chr16:89348857G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.4093C>T	16.37:g.89348857G>A	ENSP00000301030:p.Arg1365*					ANKRD11_ENST00000378330.2_Nonsense_Mutation_p.R1365*	p.R1365*	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	4553	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1365			Lys-rich.		Q6NTG1|Q6QMF8	Nonsense_Mutation	SNP	ENST00000301030.4	37	c.4093C>T	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	G	43	9.895063	0.99290	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	.	.	.	5.21	-1.68	0.08212	.	0.124913	0.51477	D	0.000089	.	.	.	.	.	.	0.25482	N	0.98772	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	16.4309	0.83841	0.0:0.0:0.6489:0.3511	.	.	.	.	X	1365	.	ENSP00000301030:R1365X	R	-	1	2	ANKRD11	87876358	0.994000	0.37717	0.076000	0.20297	0.016000	0.09150	1.291000	0.33330	-0.522000	0.06417	-1.479000	0.00991	CGA		0.562	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		14	55	0	0	0	1	0	14	55				
TAF1L	138474	broad.mit.edu	37	9	32632119	32632119	+	Silent	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr9:32632119C>T	ENST00000242310.4	-	1	3548	c.3459G>A	c.(3457-3459)ctG>ctA	p.L1153L	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1153					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGCCTGCTACCAGTAGCATTC	0.483																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(3457-3459)ctG>ctA		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							214.0	161.0	179.0					9																	32632119		2203	4300	6503	SO:0001819	synonymous_variant	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32632119C>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3459G>A	9.37:g.32632119C>T							p.L1153L	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	3548	-			1153					Q0VG57	Silent	SNP	ENST00000242310.4	37	c.3459G>A	CCDS35003.1																																																																																				0.483	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			12	65	0	0	0	1	0	12	65				
DSG1	1828	broad.mit.edu	37	18	28913648	28913648	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr18:28913648G>A	ENST00000257192.4	+	7	993	c.781G>A	c.(781-783)Gat>Aat	p.D261N		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	261	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TAAAATCCTCGATGTCAATGA	0.398																																						ENST00000257192.4																			0				NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(781-783)Gat>Aat		desmoglein 1							162.0	144.0	150.0					18																	28913648		2203	4300	6503	SO:0001583	missense	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28913648G>A	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.781G>A	18.37:g.28913648G>A	ENSP00000257192:p.Asp261Asn						p.D261N	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		7	993	+			261			Cadherin 2.		B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	c.781G>A	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	G	33	5.236686	0.95240	.	.	ENSG00000134760	ENST00000257192	T	0.66638	-0.22	5.96	5.96	0.96718	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.64402	D	0.000003	D	0.87931	0.6302	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90132	0.4207	10	0.87932	D	0	.	20.4008	0.98991	0.0:0.0:1.0:0.0	.	261	Q02413	DSG1_HUMAN	N	261	ENSP00000257192:D261N	ENSP00000257192:D261N	D	+	1	0	DSG1	27167646	1.000000	0.71417	0.975000	0.42487	0.884000	0.51177	7.188000	0.77739	2.826000	0.97356	0.655000	0.94253	GAT		0.398	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		9	46	0	0	0	1	0	9	46				
PIK3C2B	5287	broad.mit.edu	37	1	204438785	204438785	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr1:204438785G>A	ENST00000367187.3	-	3	702	c.146C>T	c.(145-147)gCc>gTc	p.A49V	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.A49V	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	49	Interaction with GRB2.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GTTCTGCTTGGCTCTGTTCTC	0.592																																						ENST00000367187.3																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(145-147)gCc>gTc		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							86.0	70.0	75.0					1																	204438785		2203	4300	6503	SO:0001583	missense	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204438785G>A	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.146C>T	1.37:g.204438785G>A	ENSP00000356155:p.Ala49Val					PIK3C2B_ENST00000424712.2_Missense_Mutation_p.A49V	p.A49V	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		3	702	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		49			Interaction with GRB2.		O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.146C>T	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.757851	0.31137	.	.	ENSG00000133056	ENST00000367187;ENST00000424712;ENST00000415899;ENST00000429009	T;T	0.63580	-0.05;0.05	5.25	4.33	0.51752	.	0.433279	0.20346	N	0.094144	T	0.43523	0.1251	N	0.14661	0.345	0.31160	N	0.704473	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.43163	-0.9408	10	0.31617	T	0.26	.	12.1172	0.53872	0.0822:0.0:0.9178:0.0	.	49;49	F5GWN5;O00750	.;P3C2B_HUMAN	V	49	ENSP00000356155:A49V;ENSP00000400561:A49V	ENSP00000356155:A49V	A	-	2	0	PIK3C2B	202705408	0.999000	0.42202	1.000000	0.80357	0.906000	0.53458	2.311000	0.43717	2.449000	0.82847	0.455000	0.32223	GCC		0.592	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		17	474	0	0	0	1	0	17	474				
CLEC2B	9976	broad.mit.edu	37	12	10005934	10005934	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr12:10005934C>T	ENST00000228438.2	-	5	1348	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	CLEC2B_ENST00000538152.1_Missense_Mutation_p.E70K	NM_005127.2	NP_005118.2	Q92478	CLC2B_HUMAN	C-type lectin domain family 2, member B	139	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(3)|lung(1)	5						CATTTTCTTTCGGTGTAACAT	0.383																																						ENST00000228438.2																			0				endometrium(1)|large_intestine(3)|lung(1)	5						c.(415-417)Gaa>Aaa		C-type lectin domain family 2, member B							179.0	150.0	160.0					12																	10005934		2203	4300	6503	SO:0001583	missense	9976					integral to plasma membrane	sugar binding	g.chr12:10005934C>T	X96719	CCDS8605.1	12p13-p12	2005-02-09	2005-02-09	2005-02-09		ENSG00000110852		"""C-type lectin domain containing"""	2053	protein-coding gene	gene with protein product		603242	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 2 (activation-induced)"""	CLECSF2		9038101	Standard	NM_005127		Approved	AICL, HP10085	uc001qwn.3	Q92478		ENST00000228438.2:c.415G>A	12.37:g.10005934C>T	ENSP00000228438:p.Glu139Lys					CLEC2B_ENST00000538152.1_Missense_Mutation_p.E70K	p.E139K	NM_005127.2	NP_005118.2	Q92478	CLC2B_HUMAN			5	1348	-			139			C-type lectin.		B2R9U1|Q8IZE9|Q9BS74|Q9UQB4	Missense_Mutation	SNP	ENST00000228438.2	37	c.415G>A	CCDS8605.1	.	.	.	.	.	.	.	.	.	.	C	5.761	0.324770	0.10900	.	.	ENSG00000110852	ENST00000228438;ENST00000538152	T;T	0.16897	2.31;2.31	2.94	2.94	0.34122	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.495729	0.15541	N	0.256954	T	0.15219	0.0367	L	0.41961	1.31	0.24743	N	0.993022	P	0.42584	0.784	B	0.42495	0.389	T	0.08207	-1.0733	10	0.19590	T	0.45	.	9.6009	0.39603	0.0:1.0:0.0:0.0	.	139	Q92478	CLC2B_HUMAN	K	139;70	ENSP00000228438:E139K;ENSP00000437946:E70K	ENSP00000228438:E139K	E	-	1	0	CLEC2B	9897201	0.001000	0.12720	0.948000	0.38648	0.036000	0.12997	0.593000	0.23999	1.970000	0.57323	0.650000	0.86243	GAA		0.383	CLEC2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399881.1	NM_005127		7	32	0	0	0	1	0	7	32				
ABCC1	4363	broad.mit.edu	37	16	16162084	16162084	+	Silent	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr16:16162084C>T	ENST00000399410.3	+	13	1924	c.1749C>T	c.(1747-1749)ttC>ttT	p.F583F	ABCC1_ENST00000345148.5_Silent_p.F583F|ABCC1_ENST00000349029.5_Silent_p.F583F|ABCC1_ENST00000351154.5_Silent_p.F583F|ABCC1_ENST00000346370.5_Silent_p.F583F|ABCC1_ENST00000399408.2_Silent_p.F583F	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	583	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	AGACAGCCTTCGTGTCTTTGG	0.562																																						ENST00000399408.2																			0				breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56						c.(1747-1749)ttC>ttT		ATP-binding cassette, sub-family C (CFTR/MRP), member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						213.0	208.0	210.0					16																	16162084		2131	4237	6368	SO:0001819	synonymous_variant	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16162084C>T	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.1749C>T	16.37:g.16162084C>T						ABCC1_ENST00000346370.5_Silent_p.F583F|ABCC1_ENST00000351154.5_Silent_p.F583F|ABCC1_ENST00000345148.5_Silent_p.F583F|ABCC1_ENST00000399410.3_Silent_p.F583F|ABCC1_ENST00000349029.5_Silent_p.F583F	p.F583F			P33527	MRP1_HUMAN			13	1924	+			583			ABC transmembrane type-1 1.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Silent	SNP	ENST00000399410.3	37	c.1749C>T	CCDS42122.1																																																																																				0.562	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		31	91	0	0	0	1	0	31	91				
OPN1LW	5956	broad.mit.edu	37	X	153421855	153421855	+	Nonsense_Mutation	SNP	C	C	G			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chrX:153421855C>G	ENST00000369951.4	+	5	891	c.831C>G	c.(829-831)taC>taG	p.Y277*	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	277					phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCTTTGCGTACTGCGTCTGCT	0.567																																						ENST00000369951.4																			0				endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15						c.(829-831)taC>taG		opsin 1 (cone pigments), long-wave-sensitive							477.0	376.0	410.0					X																	153421855		2196	4272	6468	SO:0001587	stop_gained	5956				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chrX:153421855C>G	Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"""GPCR / Class A : Opsin receptors"""	9936	protein-coding gene	gene with protein product	"""cone dystrophy 5 (X-linked)"""	300822	"""color blindness, protan"", ""red cone photoreceptor pigment"""	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.831C>G	X.37:g.153421855C>G	ENSP00000358967:p.Tyr277*					OPN1LW_ENST00000463296.1_3'UTR	p.Y277*	NM_020061.4	NP_064445.1	P04000	OPSR_HUMAN			5	891	+	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		277						Nonsense_Mutation	SNP	ENST00000369951.4	37	c.831C>G	CCDS14742.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.291950	0.23564	.	.	ENSG00000102076	ENST00000369951	.	.	.	4.37	3.48	0.39840	.	0.060862	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	7.4564	0.27270	0.0:0.7935:0.0:0.2065	.	.	.	.	X	277	.	ENSP00000358967:Y277X	Y	+	3	2	OPN1LW	153075049	0.000000	0.05858	0.289000	0.24876	0.015000	0.08874	0.628000	0.24522	1.896000	0.54893	0.436000	0.28706	TAC		0.567	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082839.2	NM_020061		52	200	0	0	0	1	0	52	200				
GPR115	221393	broad.mit.edu	37	6	47681909	47681909	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr6:47681909G>A	ENST00000283303.2	+	6	1186	c.928G>A	c.(928-930)Gtg>Atg	p.V310M	RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000327753.3_Missense_Mutation_p.V310M|GPR115_ENST00000371220.1_Missense_Mutation_p.V367M	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	310					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CTTGCAAAATGTGAGTCTTCC	0.468																																					GBM(22;431 510 9010 26644 32828)	ENST00000283303.2																			0				NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						c.(928-930)Gtg>Atg		G protein-coupled receptor 115							63.0	68.0	66.0					6																	47681909		2203	4300	6503	SO:0001583	missense	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47681909G>A	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.928G>A	6.37:g.47681909G>A	ENSP00000283303:p.Val310Met					GPR115_ENST00000327753.3_Missense_Mutation_p.V310M|GPR115_ENST00000371220.1_Missense_Mutation_p.V367M	p.V310M	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN			6	1186	+			310					B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	c.928G>A	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	G	0.316	-0.964827	0.02249	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.35048	1.56;1.33;1.33	5.19	1.37	0.22104	.	2.115310	0.01653	N	0.024653	T	0.13072	0.0317	L	0.59436	1.845	0.09310	N	1	B	0.21688	0.059	B	0.17979	0.02	T	0.06881	-1.0802	10	0.19590	T	0.45	5.2743	4.0432	0.09761	0.2717:0.0:0.5655:0.1628	.	310	Q8IZF3	GP115_HUMAN	M	367;310;310	ENSP00000360264:V367M;ENSP00000328319:V310M;ENSP00000283303:V310M	ENSP00000283303:V310M	V	+	1	0	GPR115	47789868	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.108000	0.10857	0.027000	0.15297	-0.126000	0.14955	GTG		0.468	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		9	62	0	0	0	1	0	9	62				
SPTA1	6708	broad.mit.edu	37	1	158622273	158622273	+	Missense_Mutation	SNP	A	A	T	rs376284347		TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr1:158622273A>T	ENST00000368147.4	-	23	3539	c.3359T>A	c.(3358-3360)tTt>tAt	p.F1120Y		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1120					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAACTCATCAAACTTTTTCTG	0.398																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(3358-3360)tTt>tAt		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		A	TYR/PHE	1,3755		0,1,1877	144.0	134.0	137.0		3359	4.1	1.0	1		137	0,8228		0,0,4114	no	missense	SPTA1	NM_003126.2	22	0,1,5991	TT,TA,AA		0.0,0.0266,0.0083	probably-damaging	1120/2420	158622273	1,11983	1878	4114	5992	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158622273A>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3359T>A	1.37:g.158622273A>T	ENSP00000357129:p.Phe1120Tyr					SPTA1_ENST00000368147.3_Missense_Mutation_p.F1120Y	p.F1120Y	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			23	3539	-	all_hematologic(112;0.0378)		1120					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.3359T>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.218010	0.79352	2.66E-4	0.0	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.49432	0.78;0.78	5.21	4.06	0.47325	.	0.000000	0.32852	N	0.005571	T	0.59528	0.2200	M	0.83223	2.63	0.45995	D	0.998804	D	0.76494	0.999	D	0.76575	0.988	T	0.64626	-0.6363	10	0.51188	T	0.08	.	11.1585	0.48501	0.8453:0.1547:0.0:0.0	.	1120	P02549	SPTA1_HUMAN	Y	1120	ENSP00000357130:F1120Y;ENSP00000357129:F1120Y	ENSP00000357129:F1120Y	F	-	2	0	SPTA1	156888897	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.105000	0.71505	0.977000	0.38444	0.482000	0.46254	TTT		0.398	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		15	112	0	0	0	1	0	15	112				
ZNF285	26974	broad.mit.edu	37	19	44891689	44891689	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr19:44891689C>T	ENST00000330997.4	-	4	782	c.718G>A	c.(718-720)Gcc>Acc	p.A240T	ZNF285_ENST00000591679.1_Missense_Mutation_p.A247T|ZNF285_ENST00000544719.2_Missense_Mutation_p.A240T|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	240					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TCTGCAAAGGCCACCCCACAG	0.433																																						ENST00000330997.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(718-720)Gcc>Acc		zinc finger protein 285							112.0	111.0	111.0					19																	44891689		2203	4300	6503	SO:0001583	missense	26974							g.chr19:44891689C>T	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.718G>A	19.37:g.44891689C>T	ENSP00000333595:p.Ala240Thr					ZNF285_ENST00000591679.1_Missense_Mutation_p.A247T|ZNF285_ENST00000544719.2_Missense_Mutation_p.A240T|CTC-512J12.6_ENST00000588212.1_Intron	p.A240T	NM_152354.3	NP_689567.3					4	782	-								Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	c.718G>A	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	C	9.352	1.065797	0.20067	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.01613	4.73	3.18	0.135	0.14775	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01592	0.0051	L	0.38953	1.18	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.06405	0.002;0.002	T	0.46091	-0.9216	9	0.46703	T	0.11	.	2.997	0.06001	0.2102:0.2523:0.0:0.5375	.	264;240	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	T	263;240	ENSP00000333595:A240T	ENSP00000333595:A240T	A	-	1	0	ZNF285	49583529	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.894000	0.04123	0.240000	0.21263	0.454000	0.30748	GCC		0.433	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		26	128	0	0	0	1	0	26	128				
NEFM	4741	broad.mit.edu	37	8	24771450	24771450	+	Silent	SNP	G	G	C			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr8:24771450G>C	ENST00000221166.5	+	1	926	c.144G>C	c.(142-144)gtG>gtC	p.V48V	NEFM_ENST00000518131.1_Silent_p.V48V|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000433454.2_5'Flank|NEFM_ENST00000437366.2_Silent_p.V48V|NEFM_ENST00000521540.1_3'UTR|RP11-624C23.1_ENST00000519689.1_RNA			P07197	NFM_HUMAN	neurofilament, medium polypeptide	48	Head.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CCAGCACCGTGTCCTCCTCCT	0.687																																						ENST00000221166.5																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36						c.(142-144)gtG>gtC		neurofilament, medium polypeptide							26.0	29.0	28.0					8																	24771450		2151	4211	6362	SO:0001819	synonymous_variant	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24771450G>C	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.144G>C	8.37:g.24771450G>C						NEFM_ENST00000518131.1_Silent_p.V48V|NEFM_ENST00000521540.1_3'UTR|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000437366.2_Silent_p.V48V	p.V48V			P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	1	926	+		Prostate(55;0.157)	48			Head.		B4DGN2|E9PBF7|Q4QRK6	Silent	SNP	ENST00000221166.5	37	c.144G>C	CCDS6046.1																																																																																				0.687	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		8	37	0	0	0	1	0	8	37				
XKR7	343702	broad.mit.edu	37	20	30585186	30585186	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr20:30585186C>T	ENST00000562532.2	+	3	1840	c.1666C>T	c.(1666-1668)Cct>Tct	p.P556S		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	556						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GTACTCCTCACCTGCCACGCC	0.587																																						ENST00000217299.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1666-1668)Cct>Tct		XK, Kell blood group complex subunit-related family, member 7							51.0	54.0	53.0					20																	30585186		2203	4300	6503	SO:0001583	missense	343702					integral to membrane		g.chr20:30585186C>T	AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 7"", ""chromosome 20 open reading frame 159"""	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.1666C>T	20.37:g.30585186C>T	ENSP00000477059:p.Pro556Ser						p.P556S	NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		3	1840	+			556					Q9NUG5	Missense_Mutation	SNP	ENST00000562532.2	37	c.1666C>T	CCDS33459.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.782124	0.49891	.	.	ENSG00000101321	ENST00000217299	.	.	.	5.0	4.05	0.47172	.	0.181927	0.49305	D	0.000153	T	0.60064	0.2240	M	0.70595	2.14	0.47819	D	0.999529	P	0.50528	0.936	P	0.45037	0.467	T	0.66771	-0.5839	9	0.72032	D	0.01	-1.6893	12.5997	0.56491	0.0:0.9183:0.0:0.0817	.	556	Q5GH72	XKR7_HUMAN	S	556	.	ENSP00000217299:P556S	P	+	1	0	XKR7	30048847	1.000000	0.71417	0.057000	0.19452	0.985000	0.73830	4.830000	0.62745	1.326000	0.45319	0.561000	0.74099	CCT		0.587	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078597.3	NM_001011718		17	59	0	0	0	1	0	17	59				
FRAS1	80144	broad.mit.edu	37	4	79437135	79437135	+	Missense_Mutation	SNP	G	G	A	rs376389651		TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr4:79437135G>A	ENST00000264895.6	+	66	10797	c.10357G>A	c.(10357-10359)Gtc>Atc	p.V3453I		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3449					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCTGATTGACGTCTGTGGGGG	0.537																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(10357-10359)Gtc>Atc		Fraser syndrome 1		G	ILE/VAL	0,4288		0,0,2144	86.0	91.0	89.0		10357	6.0	1.0	4		89	3,8529		0,3,4263	no	missense	FRAS1	NM_025074.6	29	0,3,6407	AA,AG,GG		0.0352,0.0,0.0234	probably-damaging	3453/4013	79437135	3,12817	2144	4266	6410	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79437135G>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.10357G>A	4.37:g.79437135G>A	ENSP00000264895:p.Val3453Ile						p.V3453I	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			66	10797	+			3448					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.10357G>A	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.91|14.91	2.676500|2.676500	0.47886|0.47886	0.0|0.0	3.52E-4|3.52E-4	ENSG00000138759|ENSG00000138759	ENST00000512123|ENST00000264895	.|T	.|0.12361	.|2.69	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.16471|0.16471	0.0396|0.0396	L|L	0.28115|0.28115	0.83|0.83	0.80722|0.80722	D|D	1|1	.|D	.|0.64830	.|0.994	.|P	.|0.50270	.|0.636	T|T	0.04216|0.04216	-1.0968|-1.0968	5|10	.|0.09338	.|T	.|0.73	.|.	20.4135|20.4135	0.99023|0.99023	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3453	.|E9PHH6	.|.	H|I	1681|3453	.|ENSP00000264895:V3453I	.|ENSP00000264895:V3453I	R|V	+|+	2|1	0|0	FRAS1|FRAS1	79656159|79656159	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.439000|0.439000	0.31926|0.31926	7.517000|7.517000	0.81783|0.81783	2.835000|2.835000	0.97688|0.97688	0.591000|0.591000	0.81541|0.81541	CGT|GTC		0.537	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	21	0	0	0	1	0	4	21				
TTN	7273	broad.mit.edu	37	2	179604671	179604671	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr2:179604671A>T	ENST00000591111.1	-	46	12562	c.12338T>A	c.(12337-12339)gTa>gAa	p.V4113E	TTN_ENST00000342175.6_Missense_Mutation_p.V4259E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V4067E|TTN_ENST00000589042.1_Missense_Mutation_p.V4430E|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.V4192E			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTGATGTTTACAGCCTCGAC	0.463																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(13288-13290)gTa>gAa		titin							123.0	124.0	124.0					2																	179604671		2013	4161	6174	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179604671A>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.12338T>A	2.37:g.179604671A>T	ENSP00000465570:p.Val4113Glu					TTN_ENST00000359218.5_Missense_Mutation_p.V4192E|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V4113E|TTN_ENST00000342175.6_Missense_Mutation_p.V4259E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V4067E	p.V4430E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		48	13513	-			4113			Ig-like 24.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.13289T>A		.	.	.	.	.	.	.	.	.	.	A	4.986	0.183122	0.09495	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.74209	-0.77;-0.81;-0.82	5.38	5.38	0.77491	.	.	.	.	.	T	0.67767	0.2928	L	0.39898	1.24	0.09310	N	1	B;B;B	0.24092	0.097;0.097;0.097	B;B;B	0.26770	0.039;0.039;0.073	T	0.62756	-0.6787	9	0.87932	D	0	.	11.1853	0.48653	0.8625:0.0:0.0:0.1375	.	4067;4192;4259	D3DPF9;E7EQE6;E7ET18	.;.;.	E	4067;4259;4192;4067	ENSP00000434586:V4067E;ENSP00000340554:V4259E;ENSP00000352154:V4192E	ENSP00000340554:V4259E	V	-	2	0	TTN	179312916	0.769000	0.28531	0.005000	0.12908	0.004000	0.04260	6.187000	0.72039	2.047000	0.60756	0.533000	0.62120	GTA		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	96	0	0	0	1	0	18	96				
TXNDC15	79770	broad.mit.edu	37	5	134210146	134210146	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr5:134210146C>T	ENST00000358387.4	+	1	654	c.29C>T	c.(28-30)cCc>cTc	p.P10L	TXNDC15_ENST00000546290.1_5'Flank	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	10					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGACGACCGCCCCGCGTCATG	0.716																																						ENST00000358387.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17						c.(28-30)cCc>cTc		thioredoxin domain containing 15							41.0	45.0	44.0					5																	134210146		2202	4298	6500	SO:0001583	missense	79770				cell redox homeostasis	integral to membrane		g.chr5:134210146C>T	AK026278	CCDS4180.1	5q31.1	2008-02-05	2007-08-16	2007-08-16	ENSG00000113621	ENSG00000113621			20652	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 14"""	C5orf14			Standard	NM_024715		Approved	2310047H23Rik, FLJ22625	uc003lac.1	Q96J42	OTTHUMG00000129115	ENST00000358387.4:c.29C>T	5.37:g.134210146C>T	ENSP00000351157:p.Pro10Leu						p.P10L	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	654	+			10					D3DQA9|Q96MT2|Q9H639	Missense_Mutation	SNP	ENST00000358387.4	37	c.29C>T	CCDS4180.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.168298	0.38315	.	.	ENSG00000113621	ENST00000441965;ENST00000358387;ENST00000506916	T	0.48836	0.8	4.7	2.83	0.33086	.	0.834354	0.10724	N	0.641372	T	0.33731	0.0873	L	0.27053	0.805	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10660	-1.0620	10	0.52906	T	0.07	-0.5792	7.3163	0.26503	0.0:0.7766:0.0:0.2234	.	10	Q96J42	TXD15_HUMAN	L	10	ENSP00000351157:P10L	ENSP00000351157:P10L	P	+	2	0	TXNDC15	134238045	0.005000	0.15991	0.798000	0.32154	0.761000	0.43186	0.035000	0.13797	0.608000	0.30000	0.563000	0.77884	CCC		0.716	TXNDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251160.1	NM_024715		10	59	0	0	0	1	0	10	59				
BCLAF1	9774	broad.mit.edu	37	6	136594291	136594291	+	Silent	SNP	G	G	A	rs148264625		TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr6:136594291G>A	ENST00000531224.1	-	7	2139	c.1887C>T	c.(1885-1887)aaC>aaT	p.N629N	BCLAF1_ENST00000530767.1_Silent_p.N456N|BCLAF1_ENST00000527759.1_Silent_p.N627N|BCLAF1_ENST00000392348.2_Silent_p.N627N|BCLAF1_ENST00000353331.4_Silent_p.N627N|BCLAF1_ENST00000527536.1_Silent_p.N629N	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	629			N -> S (in dbSNP:rs7381749).		apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGAACCGCTCGTTTAGGGTCA	0.393													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17206	0.0		0.0	False		,,,				2504	0.0				Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(1885-1887)aaC>aaT		BCL2-associated transcription factor 1		G	,,	2,4404	4.2+/-10.8	0,2,2201	224.0	224.0	224.0		1881,1368,1887	2.2	1.0	6	dbSNP_134	224	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	BCLAF1	NM_001077440.1,NM_001077441.1,NM_014739.2	,,	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	,,	627/870,456/748,629/921	136594291	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136594291G>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1887C>T	6.37:g.136594291G>A						BCLAF1_ENST00000353331.4_Silent_p.N627N|BCLAF1_ENST00000527536.1_Silent_p.N629N|BCLAF1_ENST00000392348.2_Silent_p.N627N|BCLAF1_ENST00000530767.1_Silent_p.N456N|BCLAF1_ENST00000527759.1_Silent_p.N627N	p.N629N	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	7	2139	-	Colorectal(23;0.24)		629		N -> S (in dbSNP:rs7381749).			A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Silent	SNP	ENST00000531224.1	37	c.1887C>T	CCDS5177.1																																																																																				0.393	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		21	298	0	0	0	1	0	21	298				
LAMB1	3912	broad.mit.edu	37	7	107603490	107603490	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr7:107603490G>A	ENST00000222399.6	-	15	1947	c.1717C>T	c.(1717-1719)Cgg>Tgg	p.R573W	LAMB1_ENST00000393561.1_Missense_Mutation_p.R597W|LAMB1_ENST00000393560.1_Missense_Mutation_p.R573W	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	573	Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						ATATATTGCCGCTCCACTATG	0.448																																						ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(1789-1791)Cgg>Tgg		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						91.0	92.0	92.0					7																	107603490		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107603490G>A	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.1717C>T	7.37:g.107603490G>A	ENSP00000222399:p.Arg573Trp					LAMB1_ENST00000393560.1_Missense_Mutation_p.R573W|LAMB1_ENST00000222399.6_Missense_Mutation_p.R573W	p.R597W			P07942	LAMB1_HUMAN			13	1973	-			573			Laminin IV type B.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.1789C>T	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.776287	0.49786	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.41065	1.26;1.27;1.01	4.98	3.02	0.34903	Laminin IV (1);	.	.	.	.	T	0.66479	0.2793	M	0.86502	2.82	0.52099	D	0.999946	D;D;D	0.76494	0.996;0.999;0.999	P;D;D	0.76071	0.628;0.987;0.968	T	0.72874	-0.4160	9	0.72032	D	0.01	.	12.592	0.56447	0.0:0.0:0.5531:0.4469	.	573;573;597	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	W	597;573;573	ENSP00000377191:R597W;ENSP00000222399:R573W;ENSP00000377190:R573W	ENSP00000222399:R573W	R	-	1	2	LAMB1	107390726	0.997000	0.39634	0.997000	0.53966	0.284000	0.27059	2.484000	0.45242	1.035000	0.39972	0.563000	0.77884	CGG		0.448	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		18	130	0	0	0	1	0	18	130				
TRBV7-3	28595	broad.mit.edu	37	7	142247149	142247149	+	RNA	SNP	G	G	A	rs368916180		TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr7:142247149G>A	ENST00000390361.3	-	0	356									T cell receptor beta variable 7-3																		GAGTCCCCCCGCTCTGTGCGC	0.572																																						ENST00000390361.3																			0															G		0,3972		0,0,1986	70.0	69.0	69.0			-0.3	0.0	7		69	1,8347		0,1,4173	no	intergenic				0,1,6159	AA,AG,GG		0.012,0.0,0.0081			142247149	1,12319	1986	4174	6160			0							g.chr7:142247149G>A	X61440		7q34	2012-02-07			ENSG00000211714	ENSG00000211714		"""T cell receptors / TRB locus"""	12237	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV73, TCRBV6S1A1N1, TCRBV7S3			OTTHUMG00000158528		7.37:g.142247149G>A														0	356	-									RNA	SNP	ENST00000390361.3	37																																																																																						0.572	TRBV7-3-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351234.2	NG_001333		13	77	0	0	0	1	0	13	77				
CATSPER1	117144	broad.mit.edu	37	11	65788325	65788325	+	Silent	SNP	C	C	T	rs370158610		TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr11:65788325C>T	ENST00000312106.5	-	6	2021	c.1884G>A	c.(1882-1884)acG>acA	p.T628T		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	628					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						AGTCATCCAGCGTGAGCAAGG	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14792	0.0		0.0	False		,,,				2504	0.0					ENST00000312106.5																			0				breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1882-1884)acG>acA		cation channel, sperm associated 1		C		3,4399	6.2+/-15.9	0,3,2198	110.0	72.0	84.0		1884	-3.7	1.0	11		84	0,8592		0,0,4296	no	coding-synonymous	CATSPER1	NM_053054.3		0,3,6494	TT,TC,CC		0.0,0.0682,0.0231		628/781	65788325	3,12991	2201	4296	6497	SO:0001819	synonymous_variant	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65788325C>T	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.1884G>A	11.37:g.65788325C>T							p.T628T	NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN			6	2021	-			628					Q96P76	Silent	SNP	ENST00000312106.5	37	c.1884G>A	CCDS8127.1																																																																																				0.637	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		6	31	0	0	0	1	0	6	31				
PITPNM3	83394	broad.mit.edu	37	17	6380417	6380417	+	Silent	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr17:6380417C>T	ENST00000262483.8	-	9	1104	c.1017G>A	c.(1015-1017)ccG>ccA	p.P339P	PITPNM3_ENST00000421306.3_Silent_p.P303P	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	339					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		TCTGTTTCCGCGGCAACGGCC	0.582																																						ENST00000262483.8																			0											c.(1015-1017)ccG>ccA									126.0	97.0	107.0					17																	6380417		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr17:6380417C>T	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.1017G>A	17.37:g.6380417C>T						ACKR6_ENST00000421306.3_Silent_p.P303P	p.P339P	NM_031220.3	NP_112497.2					9	1104	-								A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Silent	SNP	ENST00000262483.8	37	c.1017G>A	CCDS11076.1																																																																																				0.582	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		8	30	0	0	0	1	0	8	30				
LINC00202-2	731789	broad.mit.edu	37	10	26939502	26939502	+	lincRNA	SNP	C	C	T	rs542176368		TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr10:26939502C>T	ENST00000544033.1	+	0	5435					NR_026794.1				long intergenic non-protein coding RNA 202-2																		ATGGCACCACCCAGCCCAATG	0.468																																						ENST00000544033.1																			0																																																			0							g.chr10:26939502C>T			10p12.1	2013-07-05			ENSG00000231976	ENSG00000231976		"""Long non-coding RNAs"""	44917	non-coding RNA	RNA, long non-coding							Standard	NR_026794		Approved		uc001isu.4		OTTHUMG00000017842		10.37:g.26939502C>T								NR_026794.1						0	5435	+									RNA	SNP	ENST00000544033.1	37																																																																																						0.468	LINC00202-2-201	KNOWN	basic	lincRNA	lincRNA		NR_026794		10	45	0	0	0	1	0	10	45				
TRAPPC9	83696	broad.mit.edu	37	8	141407833	141407833	+	Silent	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr8:141407833C>T	ENST00000438773.2	-	7	1153	c.1020G>A	c.(1018-1020)gcG>gcA	p.A340A	TRAPPC9_ENST00000389327.3_Silent_p.A331A|TRAPPC9_ENST00000389328.4_Silent_p.A438A	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	340					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CAATCACTCCCGCATTCTTAT	0.433																																						ENST00000389328.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						c.(1312-1314)gcG>gcA		trafficking protein particle complex 9							171.0	160.0	164.0					8																	141407833		2203	4300	6503	SO:0001819	synonymous_variant	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:141407833C>T	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.1020G>A	8.37:g.141407833C>T						TRAPPC9_ENST00000438773.2_Silent_p.A340A|TRAPPC9_ENST00000389327.3_Silent_p.A331A	p.A438A	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN			7	1328	-			340					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Silent	SNP	ENST00000438773.2	37	c.1314G>A	CCDS55278.1	.	.	.	.	.	.	.	.	.	.	C	9.854	1.194348	0.22037	.	.	ENSG00000167632	ENST00000520857	.	.	.	4.96	-9.91	0.00458	.	.	.	.	.	T	0.42291	0.1196	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48768	-0.9006	4	.	.	.	.	5.4545	0.16582	0.2035:0.2079:0.4888:0.0998	.	.	.	.	R	184	.	.	G	-	1	0	TRAPPC9	141477015	0.000000	0.05858	0.412000	0.26496	0.990000	0.78478	-2.937000	0.00685	-2.152000	0.00794	-0.276000	0.10085	GGG		0.433	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		13	101	0	0	0	1	0	13	101				
ISPD	729920	broad.mit.edu	37	7	16445756	16445756	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr7:16445756T>A	ENST00000407010.2	-	2	463	c.464A>T	c.(463-465)cAt>cTt	p.H155L	ISPD_ENST00000399310.3_Missense_Mutation_p.H155L	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	155					axon guidance (GO:0007411)|isoprenoid biosynthetic process (GO:0008299)|protein O-linked mannosylation (GO:0035269)		nucleotidyltransferase activity (GO:0016779)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						CACAGCATCATGGATAATCAC	0.433										Multiple Myeloma(15;0.18)																												ENST00000407010.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.(463-465)cAt>cTt		isoprenoid synthase domain containing							119.0	112.0	114.0					7																	16445756		1922	4119	6041	SO:0001583	missense	729920				isoprenoid biosynthetic process		nucleotidyltransferase activity	g.chr7:16445756T>A	AK124805		7p21.2	2010-03-19			ENSG00000214960	ENSG00000214960			37276	protein-coding gene	gene with protein product	"""notch1-induced protein"", ""4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)"""	614631				11181995	Standard	NM_001101417		Approved	hCG_1745121, IspD, Nip	uc010ktx.2	A4D126	OTTHUMG00000152447	ENST00000407010.2:c.464A>T	7.37:g.16445756T>A	ENSP00000385478:p.His155Leu	Multiple Myeloma(15;0.18)				ISPD_ENST00000399310.3_Missense_Mutation_p.H155L	p.H155L	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN			2	463	-			155					A8MU35|H9KVB2	Missense_Mutation	SNP	ENST00000407010.2	37	c.464A>T		.	.	.	.	.	.	.	.	.	.	T	21.5	4.162848	0.78226	.	.	ENSG00000214960	ENST00000407010;ENST00000399310	D;D	0.92805	-3.11;-3.11	5.9	5.9	0.94986	4-diphosphocytidyl-2C-methyl-D-erythritol synthase, conserved site (1);4-diphosphocytidyl-2C-methyl-D-erythritol synthase (1);	0.000000	0.85682	U	0.000000	D	0.95834	0.8644	M	0.74389	2.26	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96227	0.9165	10	0.87932	D	0	-7.1663	16.3245	0.82970	0.0:0.0:0.0:1.0	.	155	A4D126	ISPD_HUMAN	L	155	ENSP00000385478:H155L;ENSP00000382249:H155L	ENSP00000382249:H155L	H	-	2	0	ISPD	16412281	1.000000	0.71417	0.994000	0.49952	0.550000	0.35303	7.698000	0.84413	2.254000	0.74563	0.460000	0.39030	CAT		0.433	ISPD-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000326252.4	NM_001101426		10	65	0	0	0	1	0	10	65				
PIK3C2B	5287	broad.mit.edu	37	1	204438640	204438640	+	Silent	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr1:204438640G>A	ENST00000367187.3	-	3	847	c.291C>T	c.(289-291)tcC>tcT	p.S97S	PIK3C2B_ENST00000424712.2_Silent_p.S97S	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	97	Interaction with GRB2.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CTTCCTGTGGGGAGAGTGAGT	0.572																																						ENST00000367187.3																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(289-291)tcC>tcT		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							112.0	96.0	102.0					1																	204438640		2203	4300	6503	SO:0001819	synonymous_variant	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204438640G>A	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.291C>T	1.37:g.204438640G>A						PIK3C2B_ENST00000424712.2_Silent_p.S97S	p.S97S	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		3	847	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		97			Interaction with GRB2.		O95666|Q5SW99	Silent	SNP	ENST00000367187.3	37	c.291C>T	CCDS1446.1																																																																																				0.572	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		13	390	0	0	0	1	0	13	390				
DNAH9	1770	broad.mit.edu	37	17	11573026	11573026	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr17:11573026C>T	ENST00000262442.4	+	17	3336	c.3268C>T	c.(3268-3270)Cga>Tga	p.R1090*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.R1090*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1090	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AATTGATATTCGACCCTTTAA	0.443																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(3268-3270)Cga>Tga		dynein, axonemal, heavy chain 9							131.0	135.0	133.0					17																	11573026		2203	4300	6503	SO:0001587	stop_gained	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11573026C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.3268C>T	17.37:g.11573026C>T	ENSP00000262442:p.Arg1090*					DNAH9_ENST00000454412.2_Nonsense_Mutation_p.R1090*	p.R1090*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	17	3336	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1090			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Nonsense_Mutation	SNP	ENST00000262442.4	37	c.3268C>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	41	9.033097	0.99042	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	.	.	.	4.73	2.58	0.30949	.	0.169479	0.39020	N	0.001490	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.9874	0.58599	0.3042:0.6958:0.0:0.0	.	.	.	.	X	1090	.	ENSP00000262442:R1090X	R	+	1	2	DNAH9	11513751	0.998000	0.40836	0.266000	0.24541	0.784000	0.44337	3.926000	0.56491	0.424000	0.26061	0.591000	0.81541	CGA		0.443	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		23	153	0	0	0	1	0	23	153				
CRX	1406	broad.mit.edu	37	19	48339541	48339541	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr19:48339541C>T	ENST00000221996.7	+	3	348	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	CRX_ENST00000539067.1_Missense_Mutation_p.R48W|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	48					circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CACCTTCACCCGGAGCCAACT	0.632																																					Pancreas(57;461 1196 22201 40716 47188)	ENST00000221996.7																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23						c.(142-144)Cgg>Tgg		cone-rod homeobox							70.0	77.0	75.0					19																	48339541		2203	4300	6503	SO:0001583	missense	1406				organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48339541C>T	AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"""Homeoboxes / PRD class"""	2383	protein-coding gene	gene with protein product	"""orthodenticle homeobox 3"""	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.142C>T	19.37:g.48339541C>T	ENSP00000221996:p.Arg48Trp					TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Missense_Mutation_p.R48W	p.R48W	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)	3	348	+		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	48					Q0QD45	Missense_Mutation	SNP	ENST00000221996.7	37	c.142C>T	CCDS12706.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.674565	0.47781	.	.	ENSG00000105392	ENST00000221996;ENST00000539067	D;D	0.96365	-3.99;-3.99	3.67	1.47	0.22746	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97353	0.9134	M	0.77712	2.385	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.96300	0.9220	10	0.87932	D	0	-21.1419	9.4897	0.38951	0.5591:0.4409:0.0:0.0	.	48	O43186	CRX_HUMAN	W	48	ENSP00000221996:R48W;ENSP00000445565:R48W	ENSP00000221996:R48W	R	+	1	2	CRX	53031353	0.112000	0.22096	0.997000	0.53966	0.543000	0.35085	0.607000	0.24209	0.246000	0.21394	-0.990000	0.02549	CGG		0.632	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409812.4	NM_000554		8	52	0	0	0	1	0	8	52				
PHKG1	5260	broad.mit.edu	37	7	56146102	56146102	+	IGR	SNP	C	C	T	rs150538960		TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr7:56146102C>T	ENST00000297373.2	-	0	1431				SUMF2_ENST00000275607.9_Missense_Mutation_p.P153L|SUMF2_ENST00000342190.6_Intron|SUMF2_ENST00000434526.2_Missense_Mutation_p.P260L|SUMF2_ENST00000395436.2_Missense_Mutation_p.P245L|SUMF2_ENST00000437307.2_Missense_Mutation_p.P172L|SUMF2_ENST00000413756.1_Missense_Mutation_p.P241L|SUMF2_ENST00000395435.2_Missense_Mutation_p.P176L	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)						carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACAGCATCACCGTACCAGGCT	0.687																																					Melanoma(184;580 2064 5329 24177 35303)	ENST00000434526.2																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14						c.(778-780)cCg>cTg		sulfatase modifying factor 2		C	LEU/PRO,LEU/PRO,,LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	56.0	52.0	53.0		734,527,,458,779	-1.8	0.0	7	dbSNP_134	53	0,8600		0,0,4300	no	missense,missense,intron,missense,missense	SUMF2	NM_001042469.1,NM_001042470.1,NM_001130069.2,NM_001146333.1,NM_015411.2	98,98,,98,98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,	245/306,176/237,,153/214,260/321	56146102	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	25870					endoplasmic reticulum lumen	metal ion binding	g.chr7:56146102C>T	X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869		7.37:g.56146102C>T						SUMF2_ENST00000275607.9_Missense_Mutation_p.P153L|SUMF2_ENST00000395436.2_Missense_Mutation_p.P245L|SUMF2_ENST00000395435.2_Missense_Mutation_p.P176L|SUMF2_ENST00000342190.6_Intron|SUMF2_ENST00000437307.2_Missense_Mutation_p.P172L|SUMF2_ENST00000413756.1_Missense_Mutation_p.P241L	p.P260L	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	Q8NBJ7	SUMF2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		8	810	+	Breast(14;0.214)		241					B7Z1D0|F5H2S1|Q75LP5	Missense_Mutation	SNP	ENST00000297373.2	37	c.779C>T	CCDS5525.1	.	.	.	.	.	.	.	.	.	.	C	0.096	-1.160181	0.01686	2.27E-4	0.0	ENSG00000129103	ENST00000395436;ENST00000434526;ENST00000275607;ENST00000395435;ENST00000413952;ENST00000437307;ENST00000413756;ENST00000451338	D;D;D;D;D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32;-3.32;-3.32;-3.32;-3.32	5.08	-1.83	0.07833	C-type lectin fold (1);Formylglycine-generating sulphatase enzyme domain (2);	.	.	.	.	T	0.81508	0.4837	N	0.20610	0.595	0.09310	N	1	B;B;B;B	0.18310	0.013;0.026;0.027;0.008	B;B;B;B	0.13407	0.002;0.009;0.009;0.009	T	0.67201	-0.5730	9	0.10377	T	0.69	.	1.0075	0.01490	0.3943:0.2628:0.1056:0.2373	.	157;245;263;241	Q8NBJ7-5;A8MXB9;E7EMF9;Q8NBJ7	.;.;.;SUMF2_HUMAN	L	245;260;153;176;263;172;241;258	ENSP00000378824:P245L;ENSP00000400922:P260L;ENSP00000275607:P153L;ENSP00000378823:P176L;ENSP00000414434:P263L;ENSP00000415989:P172L;ENSP00000406445:P241L;ENSP00000410796:P258L	ENSP00000275607:P153L	P	+	2	0	SUMF2	56113596	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.153000	0.10144	-0.235000	0.09767	0.655000	0.94253	CCG		0.687	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251587.1	NM_006213		7	92	0	0	0	1	0	7	92				
TRPV5	56302	broad.mit.edu	37	7	142606688	142606688	+	Silent	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr7:142606688G>A	ENST00000265310.1	-	14	2211	c.1863C>T	c.(1861-1863)tgC>tgT	p.C621C		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	621					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GCCCGAATTCGCACCCACAGA	0.607																																						ENST00000265310.1																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67						c.(1861-1863)tgC>tgT		transient receptor potential cation channel, subfamily V, member 5							87.0	76.0	79.0					7																	142606688		2203	4300	6503	SO:0001819	synonymous_variant	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142606688G>A	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1863C>T	7.37:g.142606688G>A							p.C621C	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN			14	2211	-	Melanoma(164;0.059)		621					A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Silent	SNP	ENST00000265310.1	37	c.1863C>T	CCDS5875.1																																																																																				0.607	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		10	48	0	0	0	1	0	10	48				
KCNH2	3757	broad.mit.edu	37	7	150646032	150646032	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr7:150646032C>T	ENST00000262186.5	-	10	2905	c.2504G>A	c.(2503-2505)cGg>cAg	p.R835Q	KCNH2_ENST00000392968.2_Missense_Mutation_p.R739Q|KCNH2_ENST00000330883.4_Missense_Mutation_p.R495Q	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	835					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CAGGTCGTCCCGATGGATCTT	0.567																																					GBM(137;110 1844 13671 20123 45161)	ENST00000392968.2																			0				NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42						c.(2215-2217)cGg>cAg		potassium voltage-gated channel, subfamily H (eag-related), member 2	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						136.0	111.0	119.0					7																	150646032		2203	4300	6503	SO:0001583	missense	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150646032C>T	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.2504G>A	7.37:g.150646032C>T	ENSP00000262186:p.Arg835Gln					KCNH2_ENST00000330883.4_Missense_Mutation_p.R495Q|KCNH2_ENST00000262186.5_Missense_Mutation_p.R835Q	p.R739Q			Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	8	3336	-	all_neural(206;0.219)		835					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000262186.5	37	c.2216G>A	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528840	0.85706	.	.	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186	D;D;D	0.97378	-4.36;-4.36;-4.36	3.95	3.06	0.35304	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.066706	0.64402	D	0.000020	D	0.98077	0.9366	M	0.84683	2.71	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.80764	0.994;0.987;0.938	D	0.97992	1.0355	10	0.87932	D	0	.	9.3365	0.38054	0.0:0.8927:0.0:0.1073	.	739;835;495	C4PFH9;Q12809;Q12809-2	.;KCNH2_HUMAN;.	Q	495;739;835	ENSP00000328531:R495Q;ENSP00000376695:R739Q;ENSP00000262186:R835Q	ENSP00000262186:R835Q	R	-	2	0	KCNH2	150276965	1.000000	0.71417	0.048000	0.18961	0.694000	0.40290	7.604000	0.82830	1.003000	0.39130	0.561000	0.74099	CGG		0.567	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		8	75	0	0	0	1	0	8	75				
LRP2	4036	broad.mit.edu	37	2	170050323	170050323	+	Silent	SNP	G	G	A	rs199845695		TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr2:170050323G>A	ENST00000263816.3	-	47	9063	c.8778C>T	c.(8776-8778)gaC>gaT	p.D2926D		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2926	LDL-receptor class A 21. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CATTATCACCGTCACAGATCC	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		21136	0.0		0.001	False		,,,				2504	0.0					ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(8776-8778)gaC>gaT		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						248.0	213.0	224.0					2																	170050323		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170050323G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.8778C>T	2.37:g.170050323G>A							p.D2926D	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	47	9063	-			2926			LDL-receptor class A 21.		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.8778C>T	CCDS2232.1																																																																																				0.473	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		18	111	0	0	0	1	0	18	111				
ABCC11	85320	broad.mit.edu	37	16	48256601	48256601	+	Missense_Mutation	SNP	G	G	A	rs371616371		TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr16:48256601G>A	ENST00000394747.1	-	5	1034	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C	ABCC11_ENST00000353782.5_Missense_Mutation_p.R229C|ABCC11_ENST00000356608.2_Missense_Mutation_p.R229C|ABCC11_ENST00000537808.1_Missense_Mutation_p.R229C|ABCC11_ENST00000394748.1_Missense_Mutation_p.R229C	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	229	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	ATGGCTGTGCGTTGGTTGATG	0.483																																						ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(685-687)Cgc>Tgc		ATP-binding cassette, sub-family C (CFTR/MRP), member 11		G	CYS/ARG,CYS/ARG,CYS/ARG	1,4399	2.1+/-5.4	0,1,2199	122.0	112.0	116.0		685,685,685	3.8	0.4	16		116	0,8600		0,0,4300	no	missense,missense,missense	ABCC11	NM_032583.3,NM_033151.3,NM_145186.2	180,180,180	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	229/1383,229/1383,229/1345	48256601	1,12999	2200	4300	6500	SO:0001583	missense	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48256601G>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.685C>T	16.37:g.48256601G>A	ENSP00000378230:p.Arg229Cys					ABCC11_ENST00000394748.1_Missense_Mutation_p.R229C|ABCC11_ENST00000356608.2_Missense_Mutation_p.R229C|ABCC11_ENST00000353782.5_Missense_Mutation_p.R229C|ABCC11_ENST00000537808.1_Missense_Mutation_p.R229C	p.R229C	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			5	1034	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	229			ABC transmembrane type-1 1.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.685C>T	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.632187	0.46944	2.27E-4	0.0	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.90844	-2.74;-2.74;-2.74;-2.74;-2.74	4.76	3.81	0.43845	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.389939	0.24700	N	0.036304	D	0.93439	0.7907	M	0.78049	2.395	0.49299	D	0.999776	D;P	0.76494	0.999;0.864	P;P	0.60886	0.88;0.656	D	0.92693	0.6168	10	0.59425	D	0.04	-1.1612	9.7503	0.40473	0.0988:0.0:0.9012:0.0	.	229;229	Q96J66-2;Q96J66	.;ABCCB_HUMAN	C	229	ENSP00000311326:R229C;ENSP00000349017:R229C;ENSP00000378231:R229C;ENSP00000378230:R229C;ENSP00000438530:R229C	ENSP00000311326:R229C	R	-	1	0	ABCC11	46814102	0.972000	0.33761	0.379000	0.26080	0.308000	0.27856	2.898000	0.48672	0.973000	0.38340	0.563000	0.77884	CGC		0.483	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		13	62	0	0	0	1	0	13	62				
ANKMY1	51281	broad.mit.edu	37	2	241468646	241468646	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr2:241468646G>A	ENST00000272972.3	-	4	708	c.494C>T	c.(493-495)aCg>aTg	p.T165M	ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000391987.1_Missense_Mutation_p.T165M|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.T254M|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000405002.1_Intron	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	165							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TGGAGGCAGCGTTAGGTTGTC	0.502																																						ENST00000391987.1																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30						c.(493-495)aCg>aTg		ankyrin repeat and MYND domain containing 1							142.0	136.0	138.0					2																	241468646		2203	4300	6503	SO:0001583	missense	51281						zinc ion binding	g.chr2:241468646G>A	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.494C>T	2.37:g.241468646G>A	ENSP00000272972:p.Thr165Met					ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.T254M|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000272972.3_Missense_Mutation_p.T165M|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000536462.1_Intron	p.T165M			Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	5	860	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	165					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	ENST00000272972.3	37	c.494C>T	CCDS2536.1	.	.	.	.	.	.	.	.	.	.	G	2.994	-0.207451	0.06180	.	.	ENSG00000144504	ENST00000272972;ENST00000391987;ENST00000401804;ENST00000539830;ENST00000418708	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.06	2.08	0.27032	.	0.378297	0.24016	N	0.042337	T	0.28333	0.0700	L	0.45581	1.43	0.09310	N	1	P;P	0.37525	0.598;0.598	B;B	0.24541	0.054;0.054	T	0.10177	-1.0641	10	0.49607	T	0.09	-5.1108	9.1442	0.36921	0.156:0.0:0.7195:0.1245	.	165;165	Q4ZFV3;Q9P2S6	.;ANKY1_HUMAN	M	165;165;254;165;165	ENSP00000272972:T165M;ENSP00000375847:T165M;ENSP00000385887:T254M;ENSP00000407015:T165M	ENSP00000272972:T165M	T	-	2	0	ANKMY1	241117319	0.025000	0.19082	0.001000	0.08648	0.003000	0.03518	0.912000	0.28597	0.232000	0.21100	-0.797000	0.03246	ACG		0.502	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		9	44	0	0	0	1	0	9	44				
SPESP1	246777	broad.mit.edu	37	15	69238119	69238119	+	Silent	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr15:69238119C>T	ENST00000310673.3	+	2	400	c.246C>T	c.(244-246)gaC>gaT	p.D82D	NOX5_ENST00000455873.3_Intron|RP11-809H16.2_ENST00000557966.1_RNA|SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000260364.5_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	82					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						CACATGGAGACGCTTCAACTG	0.393																																						ENST00000310673.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(244-246)gaC>gaT		sperm equatorial segment protein 1							101.0	101.0	101.0					15																	69238119		2200	4298	6498	SO:0001819	synonymous_variant	246777				multicellular organismal development	acrosomal vesicle		g.chr15:69238119C>T	AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.246C>T	15.37:g.69238119C>T						NOX5_ENST00000455873.3_Intron|NOX5_ENST00000260364.5_Intron|SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000448182.3_Intron|RP11-809H16.2_ENST00000557966.1_RNA	p.D82D	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN			2	400	+			82					Q8NG22|Q8WVH8	Silent	SNP	ENST00000310673.3	37	c.246C>T	CCDS10230.1																																																																																				0.393	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1	NM_145658		21	64	0	0	0	1	0	21	64				
HKDC1	80201	broad.mit.edu	37	10	71008236	71008236	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr10:71008236G>A	ENST00000354624.5	+	10	1455	c.1322G>A	c.(1321-1323)cGc>cAc	p.R441H	HKDC1_ENST00000395086.2_Missense_Mutation_p.R441H|HKDC1_ENST00000488706.1_3'UTR	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	441	Hexokinase type-2 1.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)	p.V440fs*51(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TGTGATGTCCGCTTCCTCCTG	0.597																																						ENST00000354624.5																			1	Deletion - Frameshift(1)	p.V440fs*51(1)	ovary(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1321-1323)cGc>cAc		hexokinase domain containing 1							54.0	54.0	54.0					10																	71008236		2203	4300	6503	SO:0001583	missense	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:71008236G>A		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.1322G>A	10.37:g.71008236G>A	ENSP00000346643:p.Arg441His					HKDC1_ENST00000488706.1_3'UTR|HKDC1_ENST00000395086.2_Missense_Mutation_p.R441H	p.R441H	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN			10	1455	+			441					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	c.1322G>A	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313536	0.81358	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.96365	-3.99;-3.99	4.92	4.02	0.46733	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93210	0.7837	L	0.55834	1.745	0.52099	D	0.999942	P	0.50443	0.935	B	0.36885	0.235	D	0.92338	0.5879	10	0.51188	T	0.08	-16.8301	13.0742	0.59077	0.0774:0.0:0.9226:0.0	.	441	Q2TB90	HKDC1_HUMAN	H	441	ENSP00000346643:R441H;ENSP00000378521:R441H	ENSP00000346643:R441H	R	+	2	0	HKDC1	70678242	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.600000	0.74132	1.296000	0.44742	0.563000	0.77884	CGC		0.597	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		21	56	0	0	0	1	0	21	56				
UFSP2	55325	broad.mit.edu	37	4	186339907	186339907	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr4:186339907C>A	ENST00000264689.6	-	3	216	c.100G>T	c.(100-102)Gca>Tca	p.A34S	Y_RNA_ENST00000384502.1_RNA|UFSP2_ENST00000502282.1_5'UTR	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	34						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	small conjugating protein-specific protease activity (GO:0019783)|thiolester hydrolase activity (GO:0016790)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		TGTTTCAGTGCCTTCTTGAGA	0.343																																						ENST00000264689.6																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(100-102)Gca>Tca		UFM1-specific peptidase 2							56.0	53.0	54.0					4																	186339907		2203	4300	6503	SO:0001583	missense	55325					endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity	g.chr4:186339907C>A	AK002062	CCDS3842.1	4q35.1	2008-03-25	2008-03-25	2008-03-25	ENSG00000109775	ENSG00000109775			25640	protein-coding gene	gene with protein product		611482	"""chromosome 4 open reading frame 20"""	C4orf20		17182609	Standard	NM_018359		Approved	FLJ11200	uc003ixo.2	Q9NUQ7	OTTHUMG00000160441	ENST00000264689.6:c.100G>T	4.37:g.186339907C>A	ENSP00000264689:p.Ala34Ser					UFSP2_ENST00000502282.1_5'UTR	p.A34S	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)	3	216	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	34					Q6IA77|Q96FS3	Missense_Mutation	SNP	ENST00000264689.6	37	c.100G>T	CCDS3842.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.585370	0.46110	.	.	ENSG00000109775	ENST00000264689;ENST00000505357	T;T	0.53423	1.44;0.62	5.87	5.87	0.94306	.	0.196490	0.44097	D	0.000481	T	0.50990	0.1648	M	0.62723	1.935	0.35858	D	0.827271	B	0.24963	0.115	B	0.29524	0.103	T	0.53570	-0.8420	10	0.30078	T	0.28	-1.5624	19.7885	0.96447	0.0:1.0:0.0:0.0	.	34	Q9NUQ7	UFSP2_HUMAN	S	34;28	ENSP00000264689:A34S;ENSP00000423108:A28S	ENSP00000264689:A34S	A	-	1	0	UFSP2	186576901	0.997000	0.39634	0.991000	0.47740	0.833000	0.47200	4.132000	0.57977	2.779000	0.95612	0.591000	0.81541	GCA		0.343	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360589.2	NM_018359		9	52	1	0	0.00448238	1	0.00457576	9	52				
ZXDB	158586	broad.mit.edu	37	X	57619831	57619831	+	Silent	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chrX:57619831C>T	ENST00000374888.1	+	1	1563	c.1350C>T	c.(1348-1350)ggC>ggT	p.G450G		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	450	Required for interaction with ZXDC. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						GTCACACCGGCGAGAGACCTT	0.483																																						ENST00000374888.1																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						c.(1348-1350)ggC>ggT		zinc finger, X-linked, duplicated B							56.0	57.0	56.0					X																	57619831		2203	4297	6500	SO:0001819	synonymous_variant	158586				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chrX:57619831C>T	L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"""Zinc fingers, C2H2-type"""	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.1350C>T	X.37:g.57619831C>T							p.G450G	NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN			1	1563	+			450			Required for interaction with ZXDC (By similarity).		A8K151|Q9UBB3	Silent	SNP	ENST00000374888.1	37	c.1350C>T	CCDS35313.1																																																																																				0.483	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157		16	75	0	0	0	1	0	16	75				
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																						ENST00000557932.1																			10	Substitution - Missense(10)	p.G374S(10)	kidney(7)|prostate(2)|endometrium(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A														0	1145	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		3	20	0	0	0	1	0	3	20				
OR51F2	119694	broad.mit.edu	37	11	4842972	4842972	+	Silent	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr11:4842972C>T	ENST00000322110.5	+	1	422	c.357C>T	c.(355-357)caC>caT	p.H119H	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTTTCTACACGGATTTACTT	0.468																																						ENST00000322110.5																			0				breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33						c.(355-357)caC>caT		olfactory receptor, family 51, subfamily F, member 2							189.0	167.0	174.0					11																	4842972		2201	4298	6499	SO:0001819	synonymous_variant	119694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4842972C>T	BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925		"""GPCR / Class A : Olfactory receptors"""	15197	protein-coding gene	gene with protein product							Standard	NM_001004753		Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.357C>T	11.37:g.4842972C>T						MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.H119H	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	422	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	119					Q6IFI1	Silent	SNP	ENST00000322110.5	37	c.357C>T	CCDS31361.1																																																																																				0.468	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142181.1	NM_001004753		21	139	0	0	0	1	0	21	139				
PPM1N	147699	broad.mit.edu	37	19	46002331	46002331	+	Silent	SNP	C	C	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr19:46002331C>A	ENST00000451287.2	+	1	601	c.601C>A	c.(601-603)Cgg>Agg	p.R201R	PPM1N_ENST00000324688.4_Silent_p.R123R|PPM1N_ENST00000396736.2_5'Flank|RTN2_ENST00000245923.4_5'Flank|PPM1N_ENST00000396735.2_5'Flank|PPM1N_ENST00000456399.2_Intron|RTN2_ENST00000590526.1_5'Flank|PPM1N_ENST00000401705.1_Intron|PPM1N_ENST00000396737.2_Intron|PPM1N_ENST00000401593.1_5'Flank|RTN2_ENST00000344680.4_5'Flank|RTN2_ENST00000589384.1_5'Flank	NM_001080401.1	NP_001073870.1	Q8N819	PPM1N_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative)	201	PP2C-like.						magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoprotein phosphatase activity (GO:0004721)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						AGAGGACCACCGGCCCCTTCG	0.736																																						ENST00000324688.4																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						c.(367-369)Cgg>Agg		protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative)							7.0	9.0	8.0					19																	46002331		1936	4044	5980	SO:0001819	synonymous_variant	147699						magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity	g.chr19:46002331C>A	AK097444	CCDS46115.1	19q13.32	2012-04-17			ENSG00000213889	ENSG00000213889		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	26845	protein-coding gene	gene with protein product							Standard	NM_001080401		Approved	FLJ40125	uc002pce.3	Q8N819	OTTHUMG00000140397	ENST00000451287.2:c.601C>A	19.37:g.46002331C>A						PPM1N_ENST00000456399.2_Intron|PPM1N_ENST00000451287.2_Silent_p.R201R|PPM1N_ENST00000396737.2_Intron|PPM1N_ENST00000401705.1_Intron	p.R123R			Q8N819	PPM1N_HUMAN			1	467	+			201			PP2C-like.		Q6P662	Silent	SNP	ENST00000451287.2	37	c.367C>A	CCDS46115.1																																																																																				0.736	PPM1N-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326517.2	NM_001080401		7	14	1	0	0.00198382	1	0.00204647	7	14				
CYP3A4	1576	broad.mit.edu	37	7	99367747	99367747	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr7:99367747C>A	ENST00000336411.2	-	5	613	c.430G>T	c.(430-432)Gag>Tag	p.E144*	CYP3A4_ENST00000354593.2_Intron	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	144					alkaloid catabolic process (GO:0009822)|androgen metabolic process (GO:0008209)|calcitriol biosynthetic process from calciol (GO:0036378)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|lipid metabolic process (GO:0006629)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	albendazole monooxygenase activity (GO:0047638)|caffeine oxidase activity (GO:0034875)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)|quinine 3-monooxygenase activity (GO:0050591)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)|taurochenodeoxycholate 6alpha-hydroxylase activity (GO:0033780)|testosterone 6-beta-hydroxylase activity (GO:0050649)|vitamin D 24-hydroxylase activity (GO:0070576)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Abiraterone(DB05812)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetazolamide(DB00819)|Adinazolam(DB00546)|ado-trastuzumab emtansine(DB05773)|Albendazole(DB00518)|Alclometasone(DB00240)|Aldesleukin(DB00041)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Alimemazine(DB01246)|Aliskiren(DB01258)|Allylestrenol(DB01431)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alosetron(DB00969)|Alprazolam(DB00404)|Ambroxol(DB06742)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Arsenic trioxide(DB01169)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atazanavir(DB01072)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Avanafil(DB06237)|Axitinib(DB06626)|Azatadine(DB00719)|Azelastine(DB00972)|Azithromycin(DB00207)|Bedaquiline(DB08903)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bezafibrate(DB01393)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bisoprolol(DB00612)|Boceprevir(DB08873)|Bortezomib(DB00188)|Bosentan(DB00559)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Brinzolamide(DB01194)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Brompheniramine(DB00835)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Busulfan(DB01008)|Cabazitaxel(DB06772)|Cabergoline(DB00248)|Cabozantinib(DB08875)|Caffeine(DB00201)|Calcitriol(DB00136)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Caspofungin(DB00520)|Cefradine(DB01333)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chenodeoxycholic acid(DB06777)|Chloramphenicol(DB00446)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clemastine(DB00283)|Clevidipine(DB04920)|Clindamycin(DB01190)|Clobazam(DB00349)|Clofazimine(DB00845)|Clofibrate(DB00636)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonazepam(DB01068)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Colchicine(DB01394)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cortisone acetate(DB01380)|Crizotinib(DB08865)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Cytarabine(DB00987)|Dabrafenib(DB08912)|Dalfopristin(DB01764)|Danazol(DB01406)|Dantrolene(DB01219)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Deferasirox(DB01609)|Delavirdine(DB00705)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Dicloxacillin(DB00485)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydrocodeine(DB01551)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Disopyramide(DB00280)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dofetilide(DB00204)|Dolasetron(DB00757)|Dolutegravir(DB08930)|Domperidone(DB01184)|Donepezil(DB00843)|Dorzolamide(DB00869)|Doxepin(DB01142)|Doxorubicin(DB00997)|Doxycycline(DB00254)|Dronabinol(DB00470)|Dronedarone(DB04855)|Dutasteride(DB01126)|Econazole(DB01127)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Epinephrine(DB00668)|Eplerenone(DB00700)|Ergocalciferol(DB00153)|Ergoloid mesylate(DB01049)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Estradiol valerate/Dienogest(DB08866)|Estradiol(DB00783)|Estramustine(DB01196)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Etravirine(DB06414)|Everolimus(DB01590)|Exemestane(DB00990)|Ezetimibe(DB00973)|Famciclovir(DB00426)|Felbamate(DB00949)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Finasteride(DB01216)|Fingolimod(DB08868)|Flucloxacillin(DB00301)|Fluconazole(DB00196)|Flunisolide(DB00180)|Flunitrazepam(DB01544)|Fluorometholone(DB00324)|Fluoxetine(DB00472)|Flurazepam(DB00690)|Flutamide(DB00499)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosamprenavir(DB01319)|Fosphenytoin(DB01320)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Glipizide(DB01067)|Glyburide(DB01016)|Granisetron(DB00889)|Griseofulvin(DB00400)|Guanethidine(DB01170)|Guanfacine(DB01018)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Hydralazine(DB01275)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|Indacaterol(DB05039)|Indapamide(DB00808)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Irinotecan(DB00762)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ixabepilone(DB04845)|Josamycin(DB01321)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Levomethadyl Acetate(DB01227)|Levomilnacipran(DB08918)|Levonorgestrel(DB00367)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Lisuride(DB00589)|Lomitapide(DB08827)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumefantrine(DB06708)|Lurasidone(DB08815)|MACITENTAN(DB08932)|Maraviroc(DB04835)|Mebendazole(DB00643)|Medroxyprogesterone Acetate(DB00603)|Mefloquine(DB00358)|Meloxicam(DB00814)|Mequitazine(DB01071)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Methylergometrine(DB00353)|Methylprednisolone(DB00959)|Methyltestosterone(DB06710)|Metronidazole(DB00916)|Metyrapone(DB01011)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Mitoxantrone(DB01204)|Modafinil(DB00745)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nafcillin(DB00607)|Naloxone(DB01183)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nitric Oxide(DB00435)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Omeprazole(DB00338)|Ondansetron(DB00904)|Orlistat(DB01083)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paramethasone(DB01384)|Paricalcitol(DB00910)|Pazopanib(DB06589)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perampanel(DB08883)|Pergolide(DB01186)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenoxybenzamine(DB00925)|Phenprocoumon(DB00946)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pilocarpine(DB01085)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Prazepam(DB01588)|Praziquantel(DB01058)|Prednisolone(DB00860)|Prednisone(DB00635)|Primaquine(DB01087)|Primidone(DB00794)|Probenecid(DB01032)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Pyridostigmine(DB00545)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Quinupristin(DB01369)|Rabeprazole(DB01129)|Raloxifene(DB00481)|Ramelteon(DB00980)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Regorafenib(DB08896)|Repaglinide(DB00912)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rifapentine(DB01201)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Rimonabant(DB06155)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rivastigmine(DB00989)|Rolitetracycline(DB01301)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosuvastatin(DB01098)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Rufinamide(DB06201)|Ruxolitinib(DB08877)|Salbutamol(DB01001)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sevoflurane(DB01236)|Sibutramine(DB01105)|Sildenafil(DB00203)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Sitaxentan(DB06268)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sufentanil(DB00708)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfanilamide(DB00259)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tasosartan(DB01349)|Telaprevir(DB05521)|Telithromycin(DB00976)|Temazepam(DB00231)|Temozolomide(DB00853)|Temsirolimus(DB06287)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Thiopental(DB00599)|Thiotepa(DB04572)|Tiagabine(DB00906)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tioconazole(DB01007)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tofisopam(DB08811)|Tolterodine(DB01036)|Tolvaptan(DB06212)|Topiramate(DB00273)|Topotecan(DB01030)|Toremifene(DB00539)|Trabectedin(DB05109)|Tramadol(DB00193)|Trametinib(DB08911)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Tretinoin(DB00755)|Triamcinolone(DB00620)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vandetanib(DB05294)|Vardenafil(DB00862)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Zidovudine(DB00495)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)|Zopiclone(DB01198)	TTTCATACCTCCTTGAGTTTT	0.393																																						ENST00000336411.2																			0				breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						c.(430-432)Gag>Tag		cytochrome P450, family 3, subfamily A, polypeptide 4	Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)						99.0	89.0	93.0					7																	99367747		2203	4300	6503	SO:0001587	stop_gained	1576				alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity	g.chr7:99367747C>A	AF280107	CCDS5674.1	7q21.1	2011-06-21	2003-01-14		ENSG00000160868	ENSG00000160868	1.1.1.161	"""Cytochrome P450s"""	2637	protein-coding gene	gene with protein product		124010	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4"""	CYP3A3		8269949, 1391968	Standard	NM_001202855		Approved		uc003urv.2	P08684	OTTHUMG00000156651	ENST00000336411.2:c.430G>T	7.37:g.99367747C>A	ENSP00000337915:p.Glu144*					CYP3A4_ENST00000354593.2_Intron	p.E144*	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN			5	613	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		144					P05184|Q16757|Q9UK50	Nonsense_Mutation	SNP	ENST00000336411.2	37	c.430G>T	CCDS5674.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462102	0.43736	.	.	ENSG00000160868	ENST00000336411	.	.	.	4.96	4.96	0.65561	.	0.050506	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.5455	0.50690	0.0:0.8186:0.1814:0.0	.	.	.	.	X	144	.	ENSP00000337915:E144X	E	-	1	0	CYP3A4	99205683	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	3.456000	0.53000	2.286000	0.76751	0.491000	0.48974	GAG		0.393	CYP3A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345059.1			13	65	1	0	0.000422831	1	0.000445564	13	65				
ANO2	57101	broad.mit.edu	37	12	5708776	5708776	+	Nonsense_Mutation	SNP	G	G	A	rs368566641		TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr12:5708776G>A	ENST00000356134.5	-	22	2181	c.2110C>T	c.(2110-2112)Cga>Tga	p.R704*	ANO2_ENST00000327087.8_Nonsense_Mutation_p.R703*|ANO2_ENST00000546188.1_Nonsense_Mutation_p.R704*	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	708					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.R704*(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TTCAGCTTTCGAAATAGTTTC	0.428																																						ENST00000356134.5																			1	Substitution - Nonsense(1)	p.R704*(1)	ovary(1)	central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(2110-2112)Cga>Tga		anoctamin 2		G	stop/ARG	0,4014		0,0,2007	104.0	99.0	101.0		2107	5.9	1.0	12		101	1,8357		0,1,4178	no	stop-gained	ANO2	NM_020373.2		0,1,6185	AA,AG,GG		0.012,0.0,0.0081		703/999	5708776	1,12371	2007	4179	6186	SO:0001587	stop_gained	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5708776G>A	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2110C>T	12.37:g.5708776G>A	ENSP00000348453:p.Arg704*					ANO2_ENST00000327087.8_Nonsense_Mutation_p.R703*|ANO2_ENST00000546188.1_Nonsense_Mutation_p.R704*	p.R704*	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN			22	2181	-			708					C4N787|Q9H847	Nonsense_Mutation	SNP	ENST00000356134.5	37	c.2110C>T		.	.	.	.	.	.	.	.	.	.	G	40	8.262735	0.98732	0.0	1.2E-4	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	.	.	.	5.9	5.9	0.94986	.	0.067886	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6796	0.56914	0.0:0.0:0.8353:0.1647	.	.	.	.	X	703;704;704;708	.	ENSP00000314048:R703X	R	-	1	2	ANO2	5579037	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.158000	0.42329	2.793000	0.96121	0.563000	0.77884	CGA		0.428	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		10	55	0	0	0	1	0	10	55				
SCRN1	9805	broad.mit.edu	37	7	29976211	29976211	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr7:29976211G>A	ENST00000426154.1	-	6	1042	c.866C>T	c.(865-867)cCg>cTg	p.P289L	SCRN1_ENST00000425819.2_Missense_Mutation_p.P221L|SCRN1_ENST00000242059.5_Missense_Mutation_p.P289L|SCRN1_ENST00000434476.2_Missense_Mutation_p.P309L|SCRN1_ENST00000416113.2_Missense_Mutation_p.P115L|SCRN1_ENST00000409497.1_Missense_Mutation_p.P289L	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	289					exocytosis (GO:0006887)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	dipeptidase activity (GO:0016805)	p.P289Q(1)|p.P309Q(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						GTGAATGCACGGAGAGCTTCT	0.522																																						ENST00000426154.1																			2	Substitution - Missense(2)	p.P289Q(1)|p.P309Q(1)	lung(2)	breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						c.(865-867)cCg>cTg		secernin 1							165.0	164.0	164.0					7																	29976211		2203	4300	6503	SO:0001583	missense	9805				exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity	g.chr7:29976211G>A	D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193			22192	protein-coding gene	gene with protein product		614965				12221138	Standard	NM_014766		Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.866C>T	7.37:g.29976211G>A	ENSP00000409068:p.Pro289Leu					SCRN1_ENST00000242059.5_Missense_Mutation_p.P289L|SCRN1_ENST00000409497.1_Missense_Mutation_p.P289L|SCRN1_ENST00000416113.2_Missense_Mutation_p.P115L	p.P289L	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN			6	1042	-			289					A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1	Missense_Mutation	SNP	ENST00000426154.1	37	c.866C>T	CCDS5422.1	.	.	.	.	.	.	.	.	.	.	g	16.08	3.022767	0.54683	.	.	ENSG00000136193	ENST00000242059;ENST00000426154;ENST00000425819;ENST00000544388;ENST00000409497;ENST00000416113;ENST00000434476	T;T;T;T;T;T	0.14391	3.15;3.15;3.0;3.15;2.51;3.13	5.57	4.69	0.59074	.	0.077348	0.56097	N	0.000040	T	0.34395	0.0896	M	0.65975	2.015	0.53005	D	0.999966	D;D;D;D	0.89917	0.998;0.995;1.0;0.999	P;P;D;D	0.87578	0.691;0.701;0.998;0.952	T	0.04041	-1.0982	9	.	.	.	-6.8697	13.4255	0.61022	0.0762:0.0:0.9238:0.0	.	309;309;221;289	C9JPG0;B4DHM0;B4DIP5;Q12765	.;.;.;SCRN1_HUMAN	L	289;289;221;93;289;115;309	ENSP00000242059:P289L;ENSP00000409068:P289L;ENSP00000414245:P221L;ENSP00000386872:P289L;ENSP00000407460:P115L;ENSP00000388942:P309L	.	P	-	2	0	SCRN1	29942736	1.000000	0.71417	0.053000	0.19242	0.007000	0.05969	7.978000	0.88095	1.368000	0.46115	-0.119000	0.15052	CCG		0.522	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214231.2	NM_014766		26	160	0	0	0	1	0	26	160				
TEK	7010	broad.mit.edu	37	9	27217702	27217702	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr9:27217702G>A	ENST00000380036.4	+	19	3450	c.3008G>A	c.(3007-3009)cGc>cAc	p.R1003H	TEK_ENST00000519097.1_Missense_Mutation_p.R855H|TEK_ENST00000406359.4_Missense_Mutation_p.R960H	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	1003	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	CTCCCAGTGCGCTGGATGGCC	0.483																																						ENST00000380036.4																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(3007-3009)cGc>cAc		TEK tyrosine kinase, endothelial							113.0	109.0	110.0					9																	27217702		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27217702G>A	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.3008G>A	9.37:g.27217702G>A	ENSP00000369375:p.Arg1003His					TEK_ENST00000519097.1_Missense_Mutation_p.R855H|TEK_ENST00000406359.4_Missense_Mutation_p.R960H	p.R1003H	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	19	3450	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	1003			Protein kinase.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.3008G>A	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.793649	0.90453	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	D;D;D	0.83591	-1.74;-1.74;-1.74	4.27	4.27	0.50696	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.42053	D	0.000766	D	0.90652	0.7068	M	0.73430	2.235	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	D	0.92081	0.5672	10	0.87932	D	0	.	17.2251	0.86967	0.0:0.0:1.0:0.0	.	855;1036;1003	E7EWI2;Q59HG2;Q02763	.;.;TIE2_HUMAN	H	855;1003;960	ENSP00000430686:R855H;ENSP00000369375:R1003H;ENSP00000383977:R960H	ENSP00000369375:R1003H	R	+	2	0	TEK	27207702	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.540000	0.98080	2.357000	0.79964	0.591000	0.81541	CGC		0.483	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			10	33	0	0	0	1	0	10	33				
OTOP2	92736	broad.mit.edu	37	17	72926410	72926410	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr17:72926410T>A	ENST00000580223.1	+	5	710	c.680T>A	c.(679-681)cTc>cAc	p.L227H	OTOP2_ENST00000331427.4_Missense_Mutation_p.L227H			Q7RTS6	OTOP2_HUMAN	otopetrin 2	227						integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					GACTCCTGCCTCTGCAGCACG	0.577																																						ENST00000331427.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39						c.(679-681)cTc>cAc		otopetrin 2							111.0	108.0	109.0					17																	72926410		2203	4300	6503	SO:0001583	missense	92736					integral to membrane		g.chr17:72926410T>A	BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.680T>A	17.37:g.72926410T>A	ENSP00000463837:p.Leu227His					OTOP2_ENST00000580223.1_Missense_Mutation_p.L227H	p.L227H	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN			6	772	+	all_lung(278;0.172)|Lung NSC(278;0.207)		227						Missense_Mutation	SNP	ENST00000580223.1	37	c.680T>A	CCDS11708.1	.	.	.	.	.	.	.	.	.	.	T	12.70	2.017882	0.35606	.	.	ENSG00000183034	ENST00000331427	T	0.10005	2.92	5.56	1.06	0.20224	.	1.243400	0.05278	N	0.518742	T	0.11410	0.0278	L	0.34521	1.04	0.09310	N	1	P	0.45594	0.862	P	0.44359	0.447	T	0.31503	-0.9941	10	0.45353	T	0.12	-1.3337	6.6871	0.23152	0.4699:0.3904:0.0:0.1396	.	227	Q7RTS6	OTOP2_HUMAN	H	227	ENSP00000332528:L227H	ENSP00000332528:L227H	L	+	2	0	OTOP2	70438005	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.132000	0.15891	-0.004000	0.14419	-1.315000	0.01301	CTC		0.577	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	NM_178160		39	170	0	0	0	1	0	39	170				
RPTN	126638	broad.mit.edu	37	1	152128196	152128196	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr1:152128196C>T	ENST00000316073.3	-	3	1443	c.1379G>A	c.(1378-1380)aGt>aAt	p.S460N		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	460	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ATAGTGGGAACTCTGGCCTTG	0.512																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1378-1380)aGt>aAt		repetin							780.0	691.0	719.0					1																	152128196		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128196C>T	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1379G>A	1.37:g.152128196C>T	ENSP00000317895:p.Ser460Asn						p.S460N	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1443	-			460			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.1379G>A	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.510364	0.27036	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	T	0.12569	2.67	5.32	-2.06	0.07298	.	.	.	.	.	T	0.06371	0.0164	M	0.83012	2.62	0.09310	N	1	P	0.50443	0.935	P	0.45377	0.478	T	0.20773	-1.0265	9	0.21540	T	0.41	-0.0256	2.0282	0.03523	0.1265:0.3555:0.1247:0.3933	.	460	Q6XPR3	RPTN_HUMAN	N	460;115	ENSP00000317895:S460N	ENSP00000317895:S460N	S	-	2	0	RPTN	150394820	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.837000	0.04377	-0.250000	0.09555	-0.447000	0.05616	AGT		0.512	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		10	806	0	0	0	1	0	10	806				
RBFOX1	54715	broad.mit.edu	37	16	7645562	7645562	+	Silent	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr16:7645562C>T	ENST00000550418.1	+	8	1468	c.480C>T	c.(478-480)ttC>ttT	p.F160F	RBFOX1_ENST00000436368.2_Silent_p.F180F|RBFOX1_ENST00000547372.1_Silent_p.F203F|RBFOX1_ENST00000547338.1_Silent_p.F160F|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000422070.4_Silent_p.F203F|RBFOX1_ENST00000553186.1_Silent_p.F160F|RBFOX1_ENST00000340209.4_Silent_p.F165F|RBFOX1_ENST00000355637.4_Silent_p.F180F|RBFOX1_ENST00000311745.5_Silent_p.F180F|RBFOX1_ENST00000552089.1_Silent_p.F177F	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	160	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.	Interaction with RNA.			mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GATTTGGTTTCGTAACTTTCG	0.443																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(493-495)ttC>ttT		RNA binding protein, fox-1 homolog (C. elegans) 1							166.0	145.0	152.0					16																	7645562		2197	4300	6497	SO:0001819	synonymous_variant	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7645562C>T	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.480C>T	16.37:g.7645562C>T						RBFOX1_ENST00000355637.4_Silent_p.F180F|RBFOX1_ENST00000547372.1_Silent_p.F203F|RBFOX1_ENST00000550418.1_Silent_p.F160F|RBFOX1_ENST00000552089.1_Silent_p.F177F|RBFOX1_ENST00000436368.2_Silent_p.F180F|RBFOX1_ENST00000311745.5_Silent_p.F180F|RBFOX1_ENST00000553186.1_Silent_p.F160F|RBFOX1_ENST00000547338.1_Silent_p.F160F|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000422070.4_Silent_p.F203F	p.F165F			Q9NWB1	RFOX1_HUMAN			5	792	+			160			RRM.		Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Silent	SNP	ENST00000550418.1	37	c.495C>T	CCDS55983.1																																																																																				0.443	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		21	101	0	0	0	1	0	21	101				
TMEM52	339456	broad.mit.edu	37	1	1849422	1849422	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr1:1849422G>C	ENST00000310991.3	-	5	536	c.529C>G	c.(529-531)Ccc>Gcc	p.P177A	TMEM52_ENST00000378602.3_Missense_Mutation_p.P162A	NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN	transmembrane protein 52	177						integral component of membrane (GO:0016021)				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGAGGGCTGGGTTTCTGGGAG	0.622																																						ENST00000378602.3																			0				NS(1)|prostate(1)|stomach(1)	3						c.(484-486)Ccc>Gcc		transmembrane protein 52							160.0	167.0	165.0					1																	1849422		2203	4300	6503	SO:0001583	missense	339456					integral to membrane		g.chr1:1849422G>C	AJ278736	CCDS35.1	1p36.33	2008-02-05			ENSG00000178821	ENSG00000178821			27916	protein-coding gene	gene with protein product							Standard	NM_178545		Approved		uc001aij.2	Q8NDY8	OTTHUMG00000000944	ENST00000310991.3:c.529C>G	1.37:g.1849422G>C	ENSP00000311122:p.Pro177Ala					TMEM52_ENST00000310991.3_Missense_Mutation_p.P177A	p.P162A			Q8NDY8	TMM52_HUMAN		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	2	724	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	177					Q4VXS6|Q6UX25	Missense_Mutation	SNP	ENST00000310991.3	37	c.484C>G	CCDS35.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	2.216|2.216	-0.379552|-0.379552	0.05000|0.05000	.|.	.|.	ENSG00000178821|ENSG00000178821	ENST00000378598|ENST00000378602;ENST00000310991	.|T;T	.|0.25912	.|1.77;1.77	4.06|4.06	-0.65|-0.65	0.11457|0.11457	.|.	.|0.794643	.|0.10324	.|N	.|0.688381	T|T	0.08537|0.08537	0.0212|0.0212	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B	.|0.31931	.|0.094;0.347	.|B;B	.|0.28553	.|0.031;0.091	T|T	0.26883|0.26883	-1.0090|-1.0090	6|10	0.87932|0.18276	D|T	0|0.48	-24.9566|-24.9566	0.647|0.647	0.00820|0.00820	0.233:0.1824:0.3821:0.2025|0.233:0.1824:0.3821:0.2025	.|.	.|177;162	.|Q8NDY8;Q8NDY8-2	.|TMM52_HUMAN;.	K|A	115|162;177	.|ENSP00000367865:P162A;ENSP00000311122:P177A	ENSP00000367861:N115K|ENSP00000311122:P177A	N|P	-|-	3|1	2|0	TMEM52|TMEM52	1839282|1839282	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.252000|0.252000	0.25951|0.25951	-1.069000|-1.069000	0.03444|0.03444	0.068000|0.068000	0.16574|0.16574	0.561000|0.561000	0.74099|0.74099	AAC|CCC		0.622	TMEM52-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002781.1	NM_178545		11	136	0	0	0	1	0	11	136				
IL1RAPL2	26280	broad.mit.edu	37	X	104984675	104984675	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chrX:104984675C>T	ENST00000372582.1	+	8	1795	c.1039C>T	c.(1039-1041)Cgt>Tgt	p.R347C	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.R347C|IL1RAPL2_ENST00000485671.1_3'UTR	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	347	Ig-like C2-type 3.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)	p.R347C(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGTTTTGCTGCGTAAAAAGGG	0.368																																						ENST00000372582.1																			1	Substitution - Missense(1)	p.R347C(1)	large_intestine(1)	breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1039-1041)Cgt>Tgt		interleukin 1 receptor accessory protein-like 2							62.0	52.0	56.0					X																	104984675		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:104984675C>T	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1039C>T	X.37:g.104984675C>T	ENSP00000361663:p.Arg347Cys					IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.R347C|IL1RAPL2_ENST00000485671.1_3'UTR	p.R347C	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN			8	1795	+			347			Ig-like C2-type 3.		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.1039C>T	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.627219	0.66901	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	T;T	0.78126	-1.15;-1.15	5.61	5.61	0.85477	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	D	0.82783	0.5112	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	P	0.60117	0.869	T	0.81731	-0.0799	10	0.37606	T	0.19	.	17.5047	0.87741	0.0:1.0:0.0:0.0	.	347	Q9NP60	IRPL2_HUMAN	C	347	ENSP00000361663:R347C;ENSP00000344976:R347C	ENSP00000344976:R347C	R	+	1	0	IL1RAPL2	104871331	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	2.396000	0.44468	2.348000	0.79779	0.600000	0.82982	CGT		0.368	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		13	84	0	0	0	1	0	13	84				
DNAH2	146754	broad.mit.edu	37	17	7646393	7646393	+	Missense_Mutation	SNP	C	C	T	rs373159496		TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr17:7646393C>T	ENST00000572933.1	+	12	3297	c.1837C>T	c.(1837-1839)Cgg>Tgg	p.R613W	DNAH2_ENST00000570791.1_Missense_Mutation_p.R695W|DNAH2_ENST00000082259.3_Missense_Mutation_p.R695W|DNAH2_ENST00000389173.2_Missense_Mutation_p.R613W			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	613	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTGCATTCGGCGGTTGGATAC	0.527																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(1837-1839)Cgg>Tgg		dynein, axonemal, heavy chain 2		C	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	101.0	85.0	91.0		1837	5.2	1.0	17		91	0,8600		0,0,4300	no	missense	DNAH2	NM_020877.2	101	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	613/4428	7646393	2,13004	2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7646393C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1837C>T	17.37:g.7646393C>T	ENSP00000458355:p.Arg613Trp					DNAH2_ENST00000389173.2_Missense_Mutation_p.R613W|DNAH2_ENST00000082259.3_Missense_Mutation_p.R695W|DNAH2_ENST00000570791.1_Missense_Mutation_p.R695W	p.R613W			Q9P225	DYH2_HUMAN			12	3297	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	613			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.1837C>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.232649	0.58777	4.54E-4	0.0	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.55930	0.49;0.49	5.22	5.22	0.72569	Dynein heavy chain, domain-1 (1);	0.137133	0.46758	D	0.000279	T	0.70692	0.3253	M	0.66939	2.045	0.27882	N	0.939665	D;D	0.89917	0.999;1.0	D;D	0.69142	0.953;0.962	T	0.67086	-0.5759	10	0.72032	D	0.01	.	17.5478	0.87867	0.0:1.0:0.0:0.0	.	613;695	Q9P225;Q9P225-3	DYH2_HUMAN;.	W	613;613;695	ENSP00000373825:R613W;ENSP00000082259:R695W	ENSP00000082259:R695W	R	+	1	2	DNAH2	7587118	1.000000	0.71417	0.999000	0.59377	0.092000	0.18411	4.069000	0.57541	2.453000	0.82957	0.563000	0.77884	CGG		0.527	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		7	64	0	0	0	1	0	7	64				
FAM86EP	348926	broad.mit.edu	37	4	3954857	3954857	+	RNA	SNP	C	C	A	rs17410899		TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr4:3954857C>A	ENST00000313946.8	-	0	135				AC226119.5_ENST00000281228.8_RNA					family with sequence similarity 86, member E, pseudogene																		AATATCCCGCCGCAGCTCAGA	0.488																																						ENST00000281228.8																			0																																																			0							g.chr4:3954857C>A			4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3954857C>A						FAM86EP_ENST00000313946.8_RNA								0	141	-									RNA	SNP	ENST00000313946.8	37																																																																																						0.488	FAM86EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357822.1			3	80	1	0	0.000602214	1	0.000627841	3	80				
SLCO1B1	10599	broad.mit.edu	37	12	21355502	21355502	+	Missense_Mutation	SNP	G	G	A	rs376060151		TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr12:21355502G>A	ENST00000256958.2	+	10	1309	c.1213G>A	c.(1213-1215)Gtt>Att	p.V405I		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	405					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	ACTGAACACCGTTGGAATTGC	0.313													g|||	1	0.000199681	0.0008	0.0	5008	,	,		14817	0.0		0.0	False		,,,				2504	0.0					ENST00000256958.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70						c.(1213-1215)Gtt>Att		solute carrier organic anion transporter family, member 1B1	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	A	ILE/VAL	0,4406		0,0,2203	81.0	77.0	78.0		1213	-5.9	0.0	12		78	1,8591	1.2+/-3.3	0,1,4295	no	missense	SLCO1B1	NM_006446.4	29	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	benign	405/692	21355502	1,12997	2203	4296	6499	SO:0001583	missense	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21355502G>A		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1213G>A	12.37:g.21355502G>A	ENSP00000256958:p.Val405Ile						p.V405I	NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN			10	1309	+			405					B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	c.1213G>A	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	g	0.003	-2.561173	0.00136	0.0	1.16E-4	ENSG00000134538	ENST00000256958	T	0.39592	1.07	2.96	-5.92	0.02261	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.428390	0.04356	N	0.356557	T	0.28599	0.0708	L	0.43923	1.385	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.16364	-1.0405	10	0.13108	T	0.6	.	4.1594	0.10277	0.2101:0.4186:0.2776:0.0938	.	405	Q9Y6L6	SO1B1_HUMAN	I	405	ENSP00000256958:V405I	ENSP00000256958:V405I	V	+	1	0	SLCO1B1	21246769	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.831000	0.01698	-4.617000	0.00039	-3.901000	0.00016	GTT		0.313	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		20	46	0	0	0	1	0	20	46				
EYA4	2070	broad.mit.edu	37	6	133789766	133789766	+	Silent	SNP	G	G	A			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr6:133789766G>A	ENST00000367895.5	+	11	1331	c.867G>A	c.(865-867)acG>acA	p.T289T	EYA4_ENST00000531901.1_Silent_p.T289T|EYA4_ENST00000525849.1_Silent_p.T266T|EYA4_ENST00000431403.2_Silent_p.T289T|EYA4_ENST00000430974.2_Silent_p.T235T|EYA4_ENST00000452339.2_Silent_p.T235T|EYA4_ENST00000355167.3_Silent_p.T289T|EYA4_ENST00000355286.6_Silent_p.T266T	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	289					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CAGCATCAACGTATGGAGCGT	0.423																																					Melanoma(57;398 1237 3528 4702 7415)	ENST00000367895.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48						c.(865-867)acG>acA		eyes absent homolog 4 (Drosophila)							153.0	136.0	142.0					6																	133789766		2203	4299	6502	SO:0001819	synonymous_variant	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133789766G>A	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.867G>A	6.37:g.133789766G>A						EYA4_ENST00000525849.1_Silent_p.T266T|EYA4_ENST00000355167.3_Silent_p.T289T|EYA4_ENST00000452339.2_Silent_p.T235T|EYA4_ENST00000431403.2_Silent_p.T289T|EYA4_ENST00000430974.2_Silent_p.T235T|EYA4_ENST00000531901.1_Silent_p.T289T|EYA4_ENST00000355286.6_Silent_p.T266T	p.T289T	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	11	1331	+	Colorectal(23;0.221)		289					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Silent	SNP	ENST00000367895.5	37	c.867G>A	CCDS5165.1																																																																																				0.423	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		13	52	0	0	0	1	0	13	52				
CLEC3B	7123	broad.mit.edu	37	3	45072406	45072406	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr3:45072406delC	ENST00000296130.4	+	2	377	c.197delC	c.(196-198)gccfs	p.A66fs	CLEC3B_ENST00000428034.1_Frame_Shift_Del_p.A24fs|CLEC3B_ENST00000490386.1_3'UTR	NM_003278.2	NP_003269.2	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	66					bone mineralization (GO:0030282)|cellular response to organic substance (GO:0071310)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ossification (GO:0001503)|positive regulation of plasminogen activation (GO:0010756)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)|kringle domain binding (GO:0036143)			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Tenecteplase(DB00031)	GAGCAGCAGGCCCTGCAGACG	0.612																																					GBM(139;1487 3263 30871)	ENST00000296130.4																			0				endometrium(1)|lung(3)	4						c.(196-198)gcfs		C-type lectin domain family 3, member B	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						29.0	26.0	27.0					3																	45072406		2192	4289	6481	SO:0001589	frameshift_variant	7123				skeletal system development	extracellular space	protein binding|sugar binding	g.chr3:45072406delC		CCDS2726.1	3p22-p21.3	2010-04-27	2005-02-09	2005-02-09	ENSG00000163815	ENSG00000163815		"""C-type lectin domain containing"""	11891	protein-coding gene	gene with protein product		187520	"""tetranectin (plasminogen binding protein)"""	TNA			Standard	NM_003278		Approved	TN	uc003cok.4	P05452	OTTHUMG00000133087	ENST00000296130.4:c.197delC	3.37:g.45072406delC	ENSP00000296130:p.Ala66fs					CLEC3B_ENST00000428034.1_Frame_Shift_Del_p.A24fs|CLEC3B_ENST00000490386.1_3'UTR	p.A66fs	NM_003278.2	NP_003269.2	P05452	TETN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	2	377	+			66					Q6FGX6	Frame_Shift_Del	DEL	ENST00000296130.4	37	c.197delC	CCDS2726.1																																																																																				0.612	CLEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256745.1	NM_003278		2	4						2	4	---	---	---	---
DST	667	broad.mit.edu	37	6	56362694	56362695	+	Frame_Shift_Ins	INS	-	-	T			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr6:56362694_56362695insT	ENST00000361203.3	-	76	19100_19101	c.19093_19094insA	c.(19093-19095)acafs	p.T6365fs	DST_ENST00000340834.4_5'UTR|DST_ENST00000244364.6_Frame_Shift_Ins_p.T4062fs|DST_ENST00000446842.2_Frame_Shift_Ins_p.T6150fs|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Frame_Shift_Ins_p.T4388fs|DST_ENST00000370769.4_Frame_Shift_Ins_p.T6476fs|DST_ENST00000370754.5_Frame_Shift_Ins_p.T6654fs|DST_ENST00000370788.2_Frame_Shift_Ins_p.T4279fs			Q03001	DYST_HUMAN	dystonin	6365					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCTTTGTTCTGTTTTTTCCAAA	0.391																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(19960-19962)agafs		dystonin																																				SO:0001589	frameshift_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56362694_56362695insT	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.19094dupA	6.37:g.56362700_56362700dupT	ENSP00000354508:p.Thr6365fs					DST_ENST00000446842.2_Frame_Shift_Ins_p.R6150fs|DST_ENST00000370769.4_Frame_Shift_Ins_p.R6476fs|DST_ENST00000370788.2_Frame_Shift_Ins_p.R4279fs|DST_ENST00000361203.3_Frame_Shift_Ins_p.R6365fs|DST_ENST00000312431.6_3'UTR|DST_ENST00000340834.4_5'UTR|DST_ENST00000244364.6_Frame_Shift_Ins_p.R4062fs|DST_ENST00000421834.2_Frame_Shift_Ins_p.R4388fs	p.R6654fs			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		81	19959_19960	-	Lung NSC(77;0.103)		6474					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Frame_Shift_Ins	INS	ENST00000361203.3	37	c.19960_19961insA																																																																																					0.391	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		8	44						8	44	---	---	---	---
DYNC2H1	79659	broad.mit.edu	37	11	103116061	103116061	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr11:103116061delC	ENST00000375735.2	+	65	10144	c.10000delC	c.(10000-10002)cctfs	p.P3334fs	DYNC2H1_ENST00000398093.3_Frame_Shift_Del_p.P3341fs|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3334	AAA 5. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGGTGTAGAACCTGTTCTTTA	0.313																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(10000-10002)ctfs		dynein, cytoplasmic 2, heavy chain 1							62.0	60.0	60.0					11																	103116061		1810	4072	5882	SO:0001589	frameshift_variant	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103116061delC	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.10000delC	11.37:g.103116061delC	ENSP00000364887:p.Pro3334fs					DYNC2H1_ENST00000398093.3_Frame_Shift_Del_p.P3341fs|DYNC2H1_ENST00000334267.7_Intron	p.P3334fs	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	65	10144	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	3334			AAA 5 (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Frame_Shift_Del	DEL	ENST00000375735.2	37	c.10000delC	CCDS53701.1																																																																																				0.313	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		2	4						2	4	---	---	---	---
MIR7162	102466227	broad.mit.edu	37	15	62538522	62538523	+	RNA	INS	-	-	GA	rs3055695|rs540111016|rs370506651	byFrequency	TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr15:62538522_62538523insGA	ENST00000570077.1	-	0	693_694				AC126323.1_ENST00000408214.1_RNA																							GGGGGCTCCGGGTAGGGGTTCA	0.609																																						ENST00000570077.1																			0																																																			0							g.chr15:62538522_62538523insGA																													15.37:g.62538522_62538523insGA														0	693_694	-									RNA	INS	ENST00000570077.1	37																																																																																						0.609	hsa-mir-7162.1-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000422143.1			3	5						3	5	---	---	---	---
FAM83D	81610	broad.mit.edu	37	20	37555323	37555325	+	In_Frame_Del	DEL	GCG	GCG	-	rs570408132	byFrequency	TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr20:37555323_37555325delGCG	ENST00000217429.4	+	1	369_371	c.328_330delGCG	c.(328-330)gcgdel	p.A116del		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	86					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				AGAGGAGGGCgcggcggcggcgg	0.719														78	0.0155751	0.056	0.0029	5008	,	,		15546	0.0		0.0	False		,,,				2504	0.002					ENST00000217429.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28						c.(328-330)del		family with sequence similarity 83, member D				14,115,1361		5,0,4,42,31,663						2.4	1.0			2	250,104,3726		71,1,107,26,51,1784	no	codingComplex	FAM83D	NM_030919.2		76,1,111,68,82,2447	A1A1,A1A2,A1R,A2A2,A2R,RR		8.6765,8.6577,8.6715				264,219,5087				SO:0001651	inframe_deletion	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37555323_37555325delGCG	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 129"""	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.328_330delGCG	20.37:g.37555332_37555334delGCG	ENSP00000217429:p.Ala116del						p.A116del	NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN			1	369_371	+		Myeloproliferative disorder(115;0.00878)	86					B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	In_Frame_Del	DEL	ENST00000217429.4	37	c.328_330delGCG	CCDS42872.1																																																																																				0.719	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			2	4						2	4	---	---	---	---
MIR3687-2	103504728	broad.mit.edu	37	21	9825838	9825839	+	RNA	INS	-	-	GCG	rs372061766|rs369177681|rs563875271	byFrequency	TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr21:9825838_9825839insGCG	ENST00000577708.1	+	0	0				MIR3648_ENST00000581792.1_RNA	NR_037458.1																						cggccgcgactgcggcggcggt	0.842																																						ENST00000581792.1																			0																																																			0							g.chr21:9825838_9825839insGCG																													21.37:g.9825845_9825847dupGCG								NR_037421.1						0	7_8	+									RNA	INS	ENST00000577708.1	37																																																																																						0.842	MIR3687-201	KNOWN	basic	miRNA	miRNA				4	3						4	3	---	---	---	---
DCX	1641	broad.mit.edu	37	X	110644519	110644519	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chrX:110644519delT	ENST00000338081.3	-	3	818	c.647delA	c.(646-648)aagfs	p.K216fs	DCX_ENST00000356915.2_Frame_Shift_Del_p.K135fs|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356220.3_Frame_Shift_Del_p.K135fs|DCX_ENST00000371993.2_Frame_Shift_Del_p.K135fs|DCX_ENST00000488120.1_Frame_Shift_Del_p.K135fs	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	216	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GTACTCCACCTTTTTAAAGAA	0.403																																						ENST00000338081.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						c.(646-648)agfs		doublecortin							104.0	98.0	101.0					X																	110644519		2203	4300	6503	SO:0001589	frameshift_variant	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110644519delT	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.647delA	X.37:g.110644519delT	ENSP00000337697:p.Lys216fs					DCX_ENST00000371993.2_Frame_Shift_Del_p.K135fs|DCX_ENST00000488120.1_Frame_Shift_Del_p.K135fs|DCX_ENST00000356915.2_Frame_Shift_Del_p.K135fs|DCX_ENST00000356220.3_Frame_Shift_Del_p.K135fs|DCX_ENST00000496551.1_5'UTR	p.K216fs	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN			3	818	-			216			Doublecortin 1.		A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Frame_Shift_Del	DEL	ENST00000338081.3	37	c.647delA	CCDS14556.1																																																																																				0.403	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153		17	88						17	88	---	---	---	---
