#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
VSX2	338917	broad.mit.edu	37	14	74726471	74726471	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr14:74726471C>T	ENST00000261980.2	+	4	836	c.746C>T	c.(745-747)gCc>gTc	p.A249V		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	249	CVC. {ECO:0000255|PROSITE- ProRule:PRU00829}.				cell fate commitment (GO:0045165)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		GACTCCTGTGCCCCGTGGCTA	0.657																																						ENST00000261980.2																			0				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(745-747)gCc>gTc		visual system homeobox 2							73.0	61.0	65.0					14																	74726471		2203	4300	6503	SO:0001583	missense	338917				multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:74726471C>T	AC005519	CCDS9827.1	14q24.3	2011-06-20	2007-08-21	2007-08-21		ENSG00000119614		"""Homeoboxes / PRD class"""	1975	protein-coding gene	gene with protein product		142993	"""C elegans ceh-10 homeo domain-containing homolog"", ""ceh-10 homeo domain containing homolog (C. elegans)"", ""ceh-10 homeodomain containing homolog (C. elegans)"""	HOX10, CHX10		1973146	Standard	NM_182894		Approved	RET1	uc001xpq.3	P58304		ENST00000261980.2:c.746C>T	14.37:g.74726471C>T	ENSP00000261980:p.Ala249Val						p.A249V	NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00154)	4	836	+			249			CVC.		A1A4X6	Missense_Mutation	SNP	ENST00000261980.2	37	c.746C>T	CCDS9827.1	.	.	.	.	.	.	.	.	.	.	C	34	5.359715	0.95854	.	.	ENSG00000119614	ENST00000261980	D	0.92199	-2.99	5.13	5.13	0.70059	CVC domain (1);	0.047909	0.85682	D	0.000000	D	0.94056	0.8095	M	0.68317	2.08	0.80722	D	1	P	0.41710	0.76	P	0.51355	0.667	D	0.92951	0.6380	10	0.37606	T	0.19	.	18.7787	0.91922	0.0:1.0:0.0:0.0	.	249	P58304	VSX2_HUMAN	V	249	ENSP00000261980:A249V	ENSP00000261980:A249V	A	+	2	0	VSX2	73796224	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.590000	0.82653	2.669000	0.90835	0.655000	0.94253	GCC		0.657	VSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412323.1	NM_182894		3	19	0	0	0	1	0	3	19				
SCG3	29106	broad.mit.edu	37	15	51975311	51975311	+	Silent	SNP	A	A	G			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr15:51975311A>G	ENST00000220478.3	+	3	574	c.171A>G	c.(169-171)acA>acG	p.T57T	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	57					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		TTAAAAAAACATATCCTCCAG	0.343																																						ENST00000220478.3																			0				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(169-171)acA>acG		secretogranin III							91.0	100.0	97.0					15																	51975311		2195	4293	6488	SO:0001819	synonymous_variant	29106				platelet activation|platelet degranulation	extracellular region|stored secretory granule		g.chr15:51975311A>G	AF078851	CCDS10142.1, CCDS53947.1	15q21.2	2013-09-23			ENSG00000104112	ENSG00000104112			13707	protein-coding gene	gene with protein product		611796				2053134, 8825061	Standard	NM_013243		Approved	SGIII, FLJ90833	uc002abh.3	Q8WXD2	OTTHUMG00000131748	ENST00000220478.3:c.171A>G	15.37:g.51975311A>G						SCG3_ENST00000542355.2_5'UTR	p.T57T	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN		all cancers(107;0.00488)	3	574	+			57					A8K2B0|B3KQP6|B4DK99|F5H3R8|Q96C83|Q96GE8|Q9Y6G7	Silent	SNP	ENST00000220478.3	37	c.171A>G	CCDS10142.1																																																																																				0.343	SCG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254670.2	NM_013243		39	42	0	0	0	1	0	39	42				
IL11RA	3590	broad.mit.edu	37	9	34657044	34657044	+	Missense_Mutation	SNP	G	G	A	rs201997285		TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr9:34657044G>A	ENST00000555003.1	+	5	1700	c.344G>A	c.(343-345)cGc>cAc	p.R115H	IL11RA_ENST00000318041.9_Missense_Mutation_p.R115H|IL11RA_ENST00000378817.4_Missense_Mutation_p.R115H|IL11RA_ENST00000478802.2_3'UTR|GALT_ENST00000556278.1_Missense_Mutation_p.R259H|IL11RA_ENST00000441545.2_Missense_Mutation_p.R115H|IL11RA_ENST00000602473.1_Missense_Mutation_p.R115H			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	115	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				developmental process (GO:0032502)|embryo implantation (GO:0007566)|head development (GO:0060322)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	CCTCCAGCCCGCCCTGTTGTC	0.592																																						ENST00000555003.1																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)	4						c.(343-345)cGc>cAc		interleukin 11 receptor, alpha	Oprelvekin(DB00038)						90.0	78.0	82.0					9																	34657044		2203	4300	6503	SO:0001583	missense	3590					integral to plasma membrane	cytokine receptor activity	g.chr9:34657044G>A	Z38102	CCDS6567.1	9p13	2014-05-22			ENSG00000137070	ENSG00000137070		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5967	protein-coding gene	gene with protein product		600939				7670098	Standard	NM_001142784		Approved		uc011loq.3	Q14626	OTTHUMG00000019837	ENST00000555003.1:c.344G>A	9.37:g.34657044G>A	ENSP00000450565:p.Arg115His					IL11RA_ENST00000602473.1_Missense_Mutation_p.R115H|GALT_ENST00000556278.1_Missense_Mutation_p.259_259insH|IL11RA_ENST00000441545.2_Missense_Mutation_p.R115H|IL11RA_ENST00000478802.2_3'UTR|IL11RA_ENST00000378817.4_Missense_Mutation_p.R115H|IL11RA_ENST00000318041.9_Missense_Mutation_p.R115H	p.R115H			Q14626	I11RA_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	5	1700	+	all_epithelial(49;0.102)		115			Fibronectin type-III 1.		Q16542|Q5VZ80|Q7KYJ7	Missense_Mutation	SNP	ENST00000555003.1	37	c.344G>A	CCDS6567.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129436	0.77549	.	.	ENSG00000258728;ENSG00000137070;ENSG00000137070;ENSG00000137070;ENSG00000137070;ENSG00000137070;ENSG00000137070;ENSG00000137070;ENSG00000137070	ENST00000556278;ENST00000555003;ENST00000441545;ENST00000553620;ENST00000556792;ENST00000378817;ENST00000318041;ENST00000556531;ENST00000555981	T;T;T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26	5.22	5.22	0.72569	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.624249	0.17179	N	0.183980	T	0.48874	0.1524	L	0.54323	1.7	0.38950	D	0.958334	D	0.69078	0.997	P	0.56700	0.804	T	0.45659	-0.9246	10	0.40728	T	0.16	-5.2778	14.2807	0.66211	0.0:0.0:1.0:0.0	.	115	Q14626	I11RA_HUMAN	H	259;115;115;38;115;115;115;115;115	ENSP00000451792:R259H;ENSP00000450565:R115H;ENSP00000394391:R115H;ENSP00000452207:R38H;ENSP00000450543:R115H;ENSP00000368094:R115H;ENSP00000326500:R115H;ENSP00000451447:R115H;ENSP00000450640:R115H	ENSP00000326500:R115H	R	+	2	0	RP11-195F19.29;IL11RA	34647044	0.969000	0.33509	0.999000	0.59377	0.993000	0.82548	2.584000	0.46102	2.425000	0.82216	0.655000	0.94253	CGC		0.592	IL11RA-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410625.1	NM_001142784		24	58	0	0	0	1	0	24	58				
MYO3A	53904	broad.mit.edu	37	10	26377234	26377234	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr10:26377234G>T	ENST00000265944.5	+	15	1628	c.1462G>T	c.(1462-1464)Gga>Tga	p.G488*	MYO3A_ENST00000543632.1_Nonsense_Mutation_p.G488*	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	488	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TAGCAGATTTGGAAAATACTT	0.378																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(1462-1464)Gga>Tga		myosin IIIA							65.0	68.0	67.0					10																	26377234		2203	4300	6503	SO:0001587	stop_gained	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26377234G>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1462G>T	10.37:g.26377234G>T	ENSP00000265944:p.Gly488*					MYO3A_ENST00000543632.1_Nonsense_Mutation_p.G488*	p.G488*	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			15	1628	+			488			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Nonsense_Mutation	SNP	ENST00000265944.5	37	c.1462G>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	40	8.396530	0.98794	.	.	ENSG00000095777	ENST00000265944;ENST00000543632	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8413	0.96690	0.0:0.0:1.0:0.0	.	.	.	.	X	488	.	ENSP00000265944:G488X	G	+	1	0	MYO3A	26417240	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.779000	0.95612	0.655000	0.94253	GGA		0.378	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		31	55	1	0	7.16923e-06	1	7.84134e-06	31	55				
GCC2	9648	broad.mit.edu	37	2	109106455	109106455	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr2:109106455C>T	ENST00000309863.6	+	18	4928	c.4214C>T	c.(4213-4215)gCg>gTg	p.A1405V		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1405					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TCCAAAGAGGCGGAACTCCGG	0.398																																						ENST00000309863.6																			0				breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(4213-4215)gCg>gTg		GRIP and coiled-coil domain containing 2							73.0	66.0	68.0					2																	109106455		2203	4300	6503	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109106455C>T	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.4214C>T	2.37:g.109106455C>T	ENSP00000307939:p.Ala1405Val						p.A1405V	NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN			18	4928	+			1405					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.4214C>T	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	C	33	5.197628	0.94997	.	.	ENSG00000135968	ENST00000309863	T	0.37752	1.18	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.51261	0.1664	L	0.36672	1.1	0.58432	D	0.999997	D	0.76494	0.999	D	0.68765	0.96	T	0.25676	-1.0125	10	0.30854	T	0.27	.	20.2982	0.98569	0.0:1.0:0.0:0.0	.	1405	Q8IWJ2	GCC2_HUMAN	V	1405	ENSP00000307939:A1405V	ENSP00000307939:A1405V	A	+	2	0	GCC2	108472887	1.000000	0.71417	0.970000	0.41538	0.863000	0.49368	7.128000	0.77217	2.873000	0.98535	0.563000	0.77884	GCG		0.398	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		10	20	0	0	0	1	0	10	20				
CNTNAP5	129684	broad.mit.edu	37	2	125521715	125521715	+	Missense_Mutation	SNP	G	G	A	rs576933313		TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr2:125521715G>A	ENST00000431078.1	+	16	2885	c.2521G>A	c.(2521-2523)Gaa>Aaa	p.E841K		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	841	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CATTCGACTCGAAATAAGCTG	0.373													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19858	0.0		0.0	False		,,,				2504	0.0					ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(2521-2523)Gaa>Aaa		contactin associated protein-like 5							97.0	92.0	94.0					2																	125521715		1826	4083	5909	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125521715G>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2521G>A	2.37:g.125521715G>A	ENSP00000399013:p.Glu841Lys						p.E841K	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	16	2885	+			841			Laminin G-like 3.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.2521G>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704984	0.88924	.	.	ENSG00000155052	ENST00000431078	T	0.80480	-1.38	5.75	5.75	0.90469	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.50627	D	0.000104	D	0.94039	0.8090	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95450	0.8533	10	0.59425	D	0.04	.	18.9356	0.92584	0.0:0.0:1.0:0.0	.	841	Q8WYK1	CNTP5_HUMAN	K	841	ENSP00000399013:E841K	ENSP00000399013:E841K	E	+	1	0	CNTNAP5	125238185	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.726000	0.98782	2.724000	0.93272	0.655000	0.94253	GAA		0.373	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			30	57	0	0	0	1	0	30	57				
DOCK11	139818	broad.mit.edu	37	X	117775256	117775256	+	Silent	SNP	T	T	C	rs137900857		TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chrX:117775256T>C	ENST00000276202.7	+	39	4311	c.4248T>C	c.(4246-4248)acT>acC	p.T1416T	DOCK11_ENST00000276204.6_Silent_p.T1416T	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1416					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CATTTTTCACTCAGTGCTTCA	0.383																																						ENST00000276204.6																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(4246-4248)acT>acC		dedicator of cytokinesis 11							102.0	80.0	87.0					X																	117775256		2203	4300	6503	SO:0001819	synonymous_variant	139818				blood coagulation	cytosol	GTP binding	g.chrX:117775256T>C	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.4248T>C	X.37:g.117775256T>C						DOCK11_ENST00000276202.7_Silent_p.T1416T	p.T1416T			Q5JSL3	DOC11_HUMAN			39	4322	+			1416					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Silent	SNP	ENST00000276202.7	37	c.4248T>C	CCDS35373.1																																																																																				0.383	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		18	22	0	0	0	1	0	18	22				
MYH7B	57644	broad.mit.edu	37	20	33567504	33567504	+	Missense_Mutation	SNP	C	C	T	rs375281565		TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr20:33567504C>T	ENST00000262873.7	+	5	457	c.365C>T	c.(364-366)cCg>cTg	p.P122L		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	80	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.P122Q(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCCATGAACCCGCCTCGCTTC	0.637																																						ENST00000262873.7																			1	Substitution - Missense(1)	p.P122Q(1)	lung(1)	NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(364-366)cCg>cTg		myosin, heavy chain 7B, cardiac muscle, beta		C	LEU/PRO	0,4352		0,0,2176	67.0	71.0	70.0		365	4.3	1.0	20		70	1,8563		0,1,4281	no	missense	MYH7B	NM_020884.3	98	0,1,6457	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging	122/1984	33567504	1,12915	2176	4282	6458	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33567504C>T	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.365C>T	20.37:g.33567504C>T	ENSP00000262873:p.Pro122Leu						p.P122L	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		5	457	+			80			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.365C>T	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184921	0.78677	0.0	1.17E-4	ENSG00000078814	ENST00000262873	T	0.73152	-0.72	4.31	4.31	0.51392	Myosin head, motor domain (1);	0.000000	0.37483	N	0.002063	D	0.88897	0.6562	H	0.97659	4.05	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91996	0.5607	10	0.87932	D	0	.	12.8852	0.58040	0.0:0.9175:0.0:0.0825	.	80	A7E2Y1	MYH7B_HUMAN	L	122	ENSP00000262873:P122L	ENSP00000262873:P122L	P	+	2	0	MYH7B	33031165	1.000000	0.71417	0.971000	0.41717	0.444000	0.32077	7.609000	0.82925	2.383000	0.81215	0.561000	0.74099	CCG		0.637	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		30	47	0	0	0	1	0	30	47				
NBEAL2	23218	broad.mit.edu	37	3	47038461	47038461	+	Silent	SNP	C	C	A			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr3:47038461C>A	ENST00000450053.3	+	18	2753	c.2574C>A	c.(2572-2574)atC>atA	p.I858I	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Silent_p.I858I	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	858					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		AGAACAACATCTGCCTGGACC	0.622																																						ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(2572-2574)atC>atA		neurobeachin-like 2							49.0	53.0	51.0					3																	47038461		2132	4269	6401	SO:0001819	synonymous_variant	23218						binding	g.chr3:47038461C>A	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.2574C>A	3.37:g.47038461C>A						NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Silent_p.I858I	p.I858I	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	18	2753	+		Acute lymphoblastic leukemia(5;0.0534)	858					O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	c.2574C>A	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	C	6.038	0.375376	0.11409	.	.	ENSG00000160796	ENST00000416683	.	.	.	4.43	3.55	0.40652	.	.	.	.	.	T	0.69584	0.3127	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67397	-0.5681	4	.	.	.	.	14.6301	0.68650	0.0:0.9188:0.0:0.0812	.	.	.	.	Y	330	.	.	S	+	2	0	NBEAL2	47013465	0.997000	0.39634	1.000000	0.80357	0.696000	0.40369	0.502000	0.22594	0.608000	0.30000	-1.598000	0.00824	TCT		0.622	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		8	27	1	0	0.000274275	1	0.000282342	8	27				
MYH9	4627	broad.mit.edu	37	22	36680210	36680210	+	Silent	SNP	G	G	A	rs559732738		TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr22:36680210G>A	ENST00000216181.5	-	40	5924	c.5694C>T	c.(5692-5694)cgC>cgT	p.R1898R	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1898					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CCTCCAGCTCGCGCTGCAGTT	0.667			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(5692-5694)cgC>cgT		myosin, heavy chain 9, non-muscle							45.0	51.0	49.0					22																	36680210		2203	4300	6503	SO:0001819	synonymous_variant	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36680210G>A		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.5694C>T	22.37:g.36680210G>A						MYH9_ENST00000475726.1_5'UTR	p.R1898R	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			40	5924	-			1898					A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	37	c.5694C>T	CCDS13927.1																																																																																				0.667	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		4	101	0	0	0	1	0	4	101				
A1CF	29974	broad.mit.edu	37	10	52596043	52596043	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr10:52596043C>T	ENST00000373993.1	-	4	439	c.395G>A	c.(394-396)aGt>aAt	p.S132N	A1CF_ENST00000373997.3_Missense_Mutation_p.S132N|A1CF_ENST00000395495.1_Missense_Mutation_p.S132N|A1CF_ENST00000282641.2_Missense_Mutation_p.S132N|A1CF_ENST00000395489.2_Missense_Mutation_p.S125N|A1CF_ENST00000374001.2_Missense_Mutation_p.S132N|A1CF_ENST00000373995.3_Missense_Mutation_p.S140N			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	132	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GTTGTCCACACTGGCACAAAC	0.433																																						ENST00000395489.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(373-375)aGt>aAt		APOBEC1 complementation factor							71.0	72.0	71.0					10																	52596043		2203	4300	6503	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52596043C>T	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.395G>A	10.37:g.52596043C>T	ENSP00000363105:p.Ser132Asn					A1CF_ENST00000282641.2_Missense_Mutation_p.S132N|A1CF_ENST00000395495.1_Missense_Mutation_p.S132N|A1CF_ENST00000373995.3_Missense_Mutation_p.S140N|A1CF_ENST00000373997.3_Missense_Mutation_p.S132N|A1CF_ENST00000374001.1_Missense_Mutation_p.S132N|A1CF_ENST00000373993.1_Missense_Mutation_p.S132N	p.S125N	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN			8	770	-			132			RRM 1.		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.374G>A	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	C	32	5.178742	0.94846	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489;ENST00000414883	T;T;T;T;T;T;T;T	0.15834	2.4;2.39;2.4;3.22;2.39;3.22;3.22;3.22	6.04	6.04	0.98038	RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.53786	0.1818	M	0.92367	3.3	0.80722	D	1	B;B;P;P	0.48998	0.176;0.11;0.918;0.52	P;B;D;P	0.69654	0.505;0.226;0.965;0.683	T	0.61232	-0.7104	10	0.87932	D	0	-10.6991	18.0887	0.89466	0.0:1.0:0.0:0.0	.	125;132;132;140	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	N	132;132;132;140;132;132;115;125;132	ENSP00000363113:S132N;ENSP00000363105:S132N;ENSP00000363109:S132N;ENSP00000363107:S140N;ENSP00000282641:S132N;ENSP00000378873:S132N;ENSP00000378868:S125N;ENSP00000397953:S132N	ENSP00000282641:S132N	S	-	2	0	A1CF	52266049	1.000000	0.71417	0.977000	0.42913	0.970000	0.65996	7.731000	0.84895	2.873000	0.98535	0.563000	0.77884	AGT		0.433	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		31	39	0	0	0	1	0	31	39				
RGMB	285704	broad.mit.edu	37	5	98115306	98115306	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr5:98115306A>C	ENST00000513185.1	+	2	595	c.159A>C	c.(157-159)caA>caC	p.Q53H	RGMB_ENST00000308234.7_Missense_Mutation_p.Q94H|RGMB_ENST00000504776.1_3'UTR			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	53					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		AGCCAGCCCAATGTCGAATCC	0.468																																						ENST00000308234.7																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10						c.(280-282)caA>caC		repulsive guidance molecule family member b							184.0	185.0	184.0					5																	98115306		2008	4159	6167	SO:0001583	missense	285704				axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding	g.chr5:98115306A>C	AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"""RGM domain family, member B"""			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.159A>C	5.37:g.98115306A>C	ENSP00000423256:p.Gln53His					RGMB_ENST00000513185.1_Missense_Mutation_p.Q53H|RGMB_ENST00000504776.1_3'UTR	p.Q94H	NM_001012761.2	NP_001012779.2	Q6NW40	RGMB_HUMAN		COAD - Colon adenocarcinoma(37;0.0587)	4	684	+		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)	53					D6R9A0|Q8NC92	Missense_Mutation	SNP	ENST00000513185.1	37	c.282A>C		.	.	.	.	.	.	.	.	.	.	A	18.14	3.557021	0.65425	.	.	ENSG00000174136	ENST00000308234;ENST00000513185	D;D	0.94046	-3.34;-3.32	5.31	-10.0	0.00425	Repulsive guidance molecule, N-terminal (1);	0.172886	0.52532	D	0.000065	D	0.93184	0.7829	M	0.66939	2.045	0.40383	D	0.979469	D	0.61080	0.989	D	0.63113	0.911	D	0.95809	0.8840	10	0.46703	T	0.11	-6.651	12.6552	0.56784	0.5297:0.0:0.3961:0.0742	.	53	Q6NW40	RGMB_HUMAN	H	94;53	ENSP00000308219:Q94H;ENSP00000423256:Q53H	ENSP00000308219:Q94H	Q	+	3	2	RGMB	98143206	0.531000	0.26338	0.128000	0.21923	0.893000	0.52053	-0.211000	0.09332	-2.672000	0.00413	-1.204000	0.01649	CAA		0.468	RGMB-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370308.1	NM_173670		88	108	0	0	0	1	0	88	108				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	3	28	0	0	0	1	0	3	28				
SPTA1	6708	broad.mit.edu	37	1	158655065	158655065	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr1:158655065T>A	ENST00000368147.4	-	2	277	c.97A>T	c.(97-99)Act>Tct	p.T33S		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	33					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)					TGATACCGAGTCAACACTTCC	0.478																																						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.(97-99)Act>Tct		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							139.0	140.0	140.0					1																	158655065		1926	4136	6062	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.chr1:158655065T>A	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.97A>T	1.37:g.158655065T>A	ENSP00000357129:p.Thr33Ser					SPTA1_ENST00000368147.3_Missense_Mutation_p.T33S	p.T33S	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			2	277	-	all_hematologic(112;0.0378)		33					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.97A>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	8.730	0.916406	0.17907	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.33216	1.42;1.42	4.98	-0.478	0.12093	.	2.014550	0.03104	N	0.161482	T	0.01835	0.0058	N	0.00368	-1.59	0.21105	N	0.999786	B	0.02656	0.0	B	0.01281	0.0	T	0.40813	-0.9543	10	0.02654	T	1	.	10.8676	0.46864	0.0:0.5859:0.0:0.4141	.	33	P02549	SPTA1_HUMAN	S	33	ENSP00000357130:T33S;ENSP00000357129:T33S	ENSP00000357129:T33S	T	-	1	0	SPTA1	156921689	0.997000	0.39634	0.011000	0.14972	0.979000	0.70002	0.878000	0.28126	-0.247000	0.09597	0.383000	0.25322	ACT		0.478	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		40	81	0	0	0	1	0	40	81				
CACNA1G	8913	broad.mit.edu	37	17	48678110	48678110	+	Silent	SNP	G	G	A			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr17:48678110G>A	ENST00000359106.5	+	18	3714	c.3714G>A	c.(3712-3714)gcG>gcA	p.A1238A	CACNA1G_ENST00000515765.1_Silent_p.A1238A|CACNA1G_ENST00000360761.4_Silent_p.A1215A|CACNA1G_ENST00000515165.1_Silent_p.A1238A|CACNA1G_ENST00000503485.1_Silent_p.A1238A|CACNA1G_ENST00000352832.5_Silent_p.A1215A|CACNA1G_ENST00000358244.5_Silent_p.A1215A|CACNA1G_ENST00000510366.1_Silent_p.A1238A|CACNA1G_ENST00000429973.2_Silent_p.A1238A|CACNA1G_ENST00000514181.1_Silent_p.A1238A|CACNA1G_ENST00000514079.1_Silent_p.A1238A|CACNA1G_ENST00000512389.1_Silent_p.A1238A|CACNA1G_ENST00000507609.1_Silent_p.A1238A|CACNA1G_ENST00000505165.1_Silent_p.A1238A|CACNA1G_ENST00000513689.2_Silent_p.A1238A|CACNA1G_ENST00000442258.2_Silent_p.A1215A|CACNA1G_ENST00000507336.1_Silent_p.A1238A|CACNA1G_ENST00000507510.2_Silent_p.A1238A|CACNA1G_ENST00000502264.1_Silent_p.A1215A|CACNA1G_ENST00000510115.1_Silent_p.A1215A|CACNA1G_ENST00000507896.1_Silent_p.A1238A|CACNA1G_ENST00000354983.4_Silent_p.A1215A|CACNA1G_ENST00000513964.1_Silent_p.A1238A|CACNA1G_ENST00000416767.4_Silent_p.A1238A|CACNA1G_ENST00000515411.1_Silent_p.A1238A|CACNA1G_ENST00000514717.1_Silent_p.A1215A	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1238					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGGTCCGCGCGTGGATCCGAG	0.632																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(3643-3645)gcG>gcA		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						54.0	66.0	62.0					17																	48678110		2082	4216	6298	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48678110G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.3714G>A	17.37:g.48678110G>A						CACNA1G_ENST00000513964.1_Silent_p.A1238A|CACNA1G_ENST00000416767.4_Silent_p.A1238A|CACNA1G_ENST00000515765.1_Silent_p.A1238A|CACNA1G_ENST00000507336.1_Silent_p.A1238A|CACNA1G_ENST00000515411.1_Silent_p.A1238A|CACNA1G_ENST00000514717.1_Silent_p.A1215A|CACNA1G_ENST00000505165.1_Silent_p.A1238A|CACNA1G_ENST00000514181.1_Silent_p.A1238A|CACNA1G_ENST00000514079.1_Silent_p.A1238A|CACNA1G_ENST00000510366.1_Silent_p.A1238A|CACNA1G_ENST00000360761.4_Silent_p.A1215A|CACNA1G_ENST00000513689.2_Silent_p.A1238A|CACNA1G_ENST00000515165.1_Silent_p.A1238A|CACNA1G_ENST00000503485.1_Silent_p.A1238A|CACNA1G_ENST00000354983.4_Silent_p.A1215A|CACNA1G_ENST00000510115.1_Silent_p.A1215A|CACNA1G_ENST00000442258.2_Silent_p.A1215A|CACNA1G_ENST00000507896.1_Silent_p.A1238A|CACNA1G_ENST00000512389.1_Silent_p.A1238A|CACNA1G_ENST00000429973.2_Silent_p.A1238A|CACNA1G_ENST00000507510.2_Silent_p.A1238A|CACNA1G_ENST00000507609.1_Silent_p.A1238A|CACNA1G_ENST00000502264.1_Silent_p.A1215A|CACNA1G_ENST00000359106.5_Silent_p.A1238A|CACNA1G_ENST00000358244.5_Silent_p.A1215A	p.A1215A	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		17	4017	+	Breast(11;6.7e-17)		1238					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	c.3645G>A	CCDS45730.1																																																																																				0.632	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		30	47	0	0	0	1	0	30	47				
LINC00969	440993	broad.mit.edu	37	3	195391111	195391111	+	lincRNA	SNP	T	T	C	rs202240591		TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr3:195391111T>C	ENST00000445430.1	+	0	637									long intergenic non-protein coding RNA 969																		TTGCACACCTTATATGGGAGG	0.597																																						ENST00000445430.1																			0																																																			0							g.chr3:195391111T>C	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195391111T>C														0	637	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.597	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	36	0	0	0	1	0	3	36				
DNER	92737	broad.mit.edu	37	2	230271991	230271991	+	Missense_Mutation	SNP	G	G	T	rs200801433	byFrequency	TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr2:230271991G>T	ENST00000341772.4	-	10	1814	c.1680C>A	c.(1678-1680)agC>agA	p.S560R		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	560	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Follistatin-like.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)	p.S560S(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TCAGGCCGTCGCTGTCACAGG	0.512																																						ENST00000341772.4																			1	Substitution - coding silent(1)	p.S560S(1)	large_intestine(1)	NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63						c.(1678-1680)agC>agA		delta/notch-like EGF repeat containing							140.0	125.0	130.0					2																	230271991		2203	4300	6503	SO:0001583	missense	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230271991G>T	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1680C>A	2.37:g.230271991G>T	ENSP00000345229:p.Ser560Arg						p.S560R	NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	10	1814	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	560			EGF-like 9.|Follistatin-like.		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	c.1680C>A	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.417508	0.42918	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.93659	-3.26	5.6	-11.2	0.00127	Follistatin-like, N-terminal (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.073593	0.85682	D	0.000000	D	0.92338	0.7569	L	0.41027	1.25	0.37874	D	0.930158	D	0.63046	0.992	P	0.56916	0.809	D	0.92487	0.5997	10	0.72032	D	0.01	.	23.7236	0.99985	0.2478:0.0:0.7522:0.0	.	560	Q8NFT8	DNER_HUMAN	R	560;278	ENSP00000345229:S560R	ENSP00000345229:S560R	S	-	3	2	DNER	229980235	0.004000	0.15560	0.039000	0.18376	0.688000	0.40055	-1.469000	0.02348	-2.653000	0.00423	-1.166000	0.01754	AGC		0.512	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		6	121	1	0	0.000442599	1	0.000442599	6	121				
PARP9	83666	broad.mit.edu	37	3	122274491	122274491	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr3:122274491C>T	ENST00000360356.2	-	4	859	c.632G>A	c.(631-633)gGa>gAa	p.G211E	PARP9_ENST00000471785.1_Missense_Mutation_p.G176E|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000462315.1_Missense_Mutation_p.G176E|PARP9_ENST00000477522.2_Missense_Mutation_p.G176E	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	211	Macro 1. {ECO:0000255|PROSITE- ProRule:PRU00490}.				cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		CTGCAGCTTTCCAGTACATCC	0.463																																						ENST00000462315.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34						c.(526-528)gGa>gAa		poly (ADP-ribose) polymerase family, member 9							74.0	71.0	72.0					3																	122274491		2203	4300	6503	SO:0001583	missense	83666				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:122274491C>T	AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"""Poly (ADP-ribose) polymerases"""	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.632G>A	3.37:g.122274491C>T	ENSP00000353512:p.Gly211Glu					PARP9_ENST00000492382.1_Intron|PARP9_ENST00000471785.1_Missense_Mutation_p.G176E|PARP9_ENST00000360356.2_Missense_Mutation_p.G211E|PARP9_ENST00000477522.2_Missense_Mutation_p.G176E	p.G176E	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN		GBM - Glioblastoma multiforme(114;0.0519)	4	820	-			211			Macro 1.		A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	ENST00000360356.2	37	c.527G>A	CCDS3014.1	.	.	.	.	.	.	.	.	.	.	C	0.690	-0.794820	0.02862	.	.	ENSG00000138496	ENST00000360356;ENST00000477522;ENST00000471785;ENST00000452457;ENST00000462315	T;T;T;T	0.17854	2.25;2.25;2.25;2.25	5.49	-6.51	0.01878	Appr-1-p processing (3);	4.359540	0.00166	N	0.000009	T	0.02970	0.0088	N	0.00493	-1.44	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.35325	-0.9793	10	0.02654	T	1	.	1.6445	0.02759	0.2413:0.3124:0.089:0.3573	.	176;211;176	E9PFM7;Q8IXQ6;Q8IXQ6-2	.;PARP9_HUMAN;.	E	211;176;176;134;176	ENSP00000353512:G211E;ENSP00000419506:G176E;ENSP00000419001:G176E;ENSP00000418894:G176E	ENSP00000353512:G211E	G	-	2	0	PARP9	123757181	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.878000	0.28126	-0.864000	0.04078	-0.812000	0.03155	GGA		0.463	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458		7	35	0	0	0	1	0	7	35				
CCDC70	83446	broad.mit.edu	37	13	52439722	52439722	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr13:52439722T>C	ENST00000242819.4	+	2	504	c.208T>C	c.(208-210)Tgg>Cgg	p.W70R		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	70						extracellular region (GO:0005576)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		GGAAGAGATGTGGACTTTCCG	0.468																																						ENST00000242819.4																			0				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15						c.(208-210)Tgg>Cgg		coiled-coil domain containing 70							62.0	68.0	66.0					13																	52439722		2203	4300	6503	SO:0001583	missense	83446					extracellular region|plasma membrane		g.chr13:52439722T>C		CCDS9431.1	13q14.3	2006-02-07			ENSG00000123171	ENSG00000123171			25303	protein-coding gene	gene with protein product						11230166	Standard	NM_031290		Approved	DKFZP434K1172, FLJ25853	uc001vfu.4	Q6NSX1	OTTHUMG00000016950	ENST00000242819.4:c.208T>C	13.37:g.52439722T>C	ENSP00000242819:p.Trp70Arg						p.W70R	NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN		GBM - Glioblastoma multiforme(99;2.4e-08)	2	504	+		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)	70					Q8N7A8|Q9H097	Missense_Mutation	SNP	ENST00000242819.4	37	c.208T>C	CCDS9431.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.802895	0.00611	.	.	ENSG00000123171	ENST00000242819	T	0.27104	1.69	5.34	-0.341	0.12639	.	0.338064	0.26096	N	0.026376	T	0.20170	0.0485	M	0.70595	2.14	0.09310	N	1	P	0.39782	0.688	B	0.40534	0.332	T	0.18777	-1.0326	10	0.09843	T	0.71	-24.8187	3.1732	0.06560	0.2938:0.1694:0.0:0.5368	.	70	Q6NSX1	CCD70_HUMAN	R	70	ENSP00000242819:W70R	ENSP00000242819:W70R	W	+	1	0	CCDC70	51337723	0.007000	0.16637	0.002000	0.10522	0.002000	0.02628	0.301000	0.19174	0.031000	0.15407	-0.490000	0.04691	TGG		0.468	CCDC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045033.2	NM_031290		32	52	0	0	0	1	0	32	52				
NEB	4703	broad.mit.edu	37	2	152410424	152410424	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr2:152410424C>T	ENST00000172853.10	-	98	14588	c.14441G>A	c.(14440-14442)cGc>cAc	p.R4814H	NEB_ENST00000397345.3_Missense_Mutation_p.R6515H|NEB_ENST00000427231.2_Missense_Mutation_p.R6515H|NEB_ENST00000409198.1_Missense_Mutation_p.R4814H|NEB_ENST00000603639.1_Missense_Mutation_p.R6515H|NEB_ENST00000604864.1_Missense_Mutation_p.R6515H			P20929	NEBU_HUMAN	nebulin	4814					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GAGGCGCAGGCGGTAATCAAT	0.468																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(19543-19545)cGc>cAc		nebulin							144.0	144.0	144.0					2																	152410424		1997	4174	6171	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152410424C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.14441G>A	2.37:g.152410424C>T	ENSP00000172853:p.Arg4814His					NEB_ENST00000172853.10_Missense_Mutation_p.R4814H|NEB_ENST00000409198.1_Missense_Mutation_p.R4814H|NEB_ENST00000397345.3_Missense_Mutation_p.R6515H|NEB_ENST00000603639.1_Missense_Mutation_p.R6515H|NEB_ENST00000604864.1_Missense_Mutation_p.R6515H	p.R6515H	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	126	19746	-			4814			Interaction with SVIL.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.19544G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.602972	0.96614	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.69628	0.3132	M	0.75447	2.3	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.67725	0.816;0.953	T	0.72899	-0.4152	10	0.87932	D	0	.	19.387	0.94560	0.0:1.0:0.0:0.0	.	4814;1245	P20929;Q14215	NEBU_HUMAN;.	H	4814;6515;6515;863;1245;4814	ENSP00000386259:R4814H;ENSP00000380505:R6515H;ENSP00000416578:R6515H;ENSP00000410961:R1245H;ENSP00000172853:R4814H	ENSP00000172853:R4814H	R	-	2	0	NEB	152118670	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.586000	0.67503	2.572000	0.86782	0.655000	0.94253	CGC		0.468	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		36	48	0	0	0	1	0	36	48				
CELA1	1990	broad.mit.edu	37	12	51737623	51737623	+	Silent	SNP	G	G	A			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr12:51737623G>A	ENST00000293636.1	-	3	154	c.114C>T	c.(112-114)taC>taT	p.Y38Y		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	38	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocrine pancreas development (GO:0031017)|inflammatory response (GO:0006954)|multicellular organism growth (GO:0035264)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas morphogenesis (GO:0061113)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						CTCCAGACCGGTACTGGAGGG	0.502																																						ENST00000293636.1																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						c.(112-114)taC>taT		chymotrypsin-like elastase family, member 1							42.0	36.0	38.0					12																	51737623		2203	4300	6503	SO:0001819	synonymous_variant	1990				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:51737623G>A		CCDS8812.1	12q13	2012-10-02	2009-05-05	2009-05-05	ENSG00000139610	ENSG00000139610			3308	protein-coding gene	gene with protein product		130120	"""elastase 1, pancreatic"""	ELA1			Standard	NM_001971		Approved		uc001ryi.1	Q9UNI1	OTTHUMG00000167523	ENST00000293636.1:c.114C>T	12.37:g.51737623G>A							p.Y38Y	NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN			3	154	-			38			Peptidase S1.		Q5MLF0|Q6DJT0|Q6ISM6	Silent	SNP	ENST00000293636.1	37	c.114C>T	CCDS8812.1																																																																																				0.502	CELA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394901.1	NM_001971		4	8	0	0	0	1	0	4	8				
ADCY5	111	broad.mit.edu	37	3	123049810	123049810	+	Silent	SNP	C	C	T			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr3:123049810C>T	ENST00000462833.1	-	5	2784	c.1572G>A	c.(1570-1572)tcG>tcA	p.S524S	ADCY5_ENST00000491190.1_Silent_p.S157S|ADCY5_ENST00000309879.5_Silent_p.S174S	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	524	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CAGGCAGCCCCGAGACGCAGT	0.478																																						ENST00000462833.1																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(1570-1572)tcG>tcA		adenylate cyclase 5							79.0	70.0	73.0					3																	123049810		2203	4300	6503	SO:0001819	synonymous_variant	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123049810C>T	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.1572G>A	3.37:g.123049810C>T						ADCY5_ENST00000491190.1_Silent_p.S157S|ADCY5_ENST00000309879.5_Silent_p.S174S	p.S524S	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	5	2784	-			524			Guanylate cyclase 1.		B7Z8A6|Q7RTV7|Q8NFM3	Silent	SNP	ENST00000462833.1	37	c.1572G>A	CCDS3022.1																																																																																				0.478	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		8	37	0	0	0	1	0	8	37				
PCDH12	51294	broad.mit.edu	37	5	141336228	141336228	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr5:141336228G>C	ENST00000231484.3	-	1	2399	c.1189C>G	c.(1189-1191)Ctg>Gtg	p.L397V	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	397	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGTGGCCCAGCTCTTGGCTC	0.488																																						ENST00000231484.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(1189-1191)Ctg>Gtg		protocadherin 12							122.0	114.0	117.0					5																	141336228		2203	4300	6503	SO:0001583	missense	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141336228G>C	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.1189C>G	5.37:g.141336228G>C	ENSP00000231484:p.Leu397Val						p.L397V	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2399	-		all_hematologic(541;0.0999)	397			Cadherin 4.		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	c.1189C>G	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	G	5.344	0.248714	0.10130	.	.	ENSG00000113555	ENST00000231484	T	0.51325	0.71	4.92	3.14	0.36123	Cadherin (4);Cadherin-like (1);	0.654660	0.15426	N	0.262968	T	0.29783	0.0744	L	0.28054	0.825	0.09310	N	1	P	0.37573	0.6	B	0.36808	0.233	T	0.11348	-1.0591	10	0.08599	T	0.76	.	9.4304	0.38606	0.1547:0.0:0.8453:0.0	.	397	Q9NPG4	PCD12_HUMAN	V	397	ENSP00000231484:L397V	ENSP00000231484:L397V	L	-	1	2	PCDH12	141316412	0.000000	0.05858	0.836000	0.33094	0.996000	0.88848	0.678000	0.25277	0.675000	0.31264	0.561000	0.74099	CTG		0.488	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		5	96	0	0	0	1	0	5	96				
TNRC18	84629	broad.mit.edu	37	7	5363890	5363890	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr7:5363890C>T	ENST00000430969.1	-	21	6745	c.6397G>A	c.(6397-6399)Gag>Aag	p.E2133K	TNRC18_ENST00000399537.4_Missense_Mutation_p.E2133K	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2133							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGCAGGTGCTCGTCCTCAGAG	0.682																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(6397-6399)Gag>Aag		trinucleotide repeat containing 18							27.0	31.0	30.0					7																	5363890		1568	3582	5150	SO:0001583	missense	84629						DNA binding	g.chr7:5363890C>T	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.6397G>A	7.37:g.5363890C>T	ENSP00000395538:p.Glu2133Lys					TNRC18_ENST00000430969.1_Missense_Mutation_p.E2133K	p.E2133K			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	21	6745	-		Ovarian(82;0.142)	2133					A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.6397G>A	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	c	17.82	3.484066	0.63962	.	.	ENSG00000182095	ENST00000399537;ENST00000430969	T;T	0.25085	1.84;1.82	3.97	3.97	0.46021	.	.	.	.	.	T	0.46092	0.1375	L	0.55481	1.735	0.43255	D	0.995185	D	0.89917	1.0	D	0.78314	0.991	T	0.48614	-0.9020	9	0.59425	D	0.04	.	15.9715	0.80025	0.0:1.0:0.0:0.0	.	2133	O15417	TNC18_HUMAN	K	2133	ENSP00000382452:E2133K;ENSP00000395538:E2133K	ENSP00000382452:E2133K	E	-	1	0	TNRC18	5330416	1.000000	0.71417	0.976000	0.42696	0.025000	0.11179	6.977000	0.76141	1.927000	0.55829	0.313000	0.20887	GAG		0.682	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				5	25	0	0	0	1	0	5	25				
TEX15	56154	broad.mit.edu	37	8	30701886	30701886	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr8:30701886C>T	ENST00000256246.2	-	1	4722	c.4648G>A	c.(4648-4650)Gac>Aac	p.D1550N		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1550					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GACTGCGAGTCTTTACTAACT	0.388																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(4648-4650)Gac>Aac		testis expressed 15							192.0	191.0	191.0					8																	30701886		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30701886C>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.4648G>A	8.37:g.30701886C>T	ENSP00000256246:p.Asp1550Asn						p.D1550N	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	4722	-			1550						Missense_Mutation	SNP	ENST00000256246.2	37	c.4648G>A	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.316442	0.23908	.	.	ENSG00000133863	ENST00000256246	T	0.11821	2.74	5.47	1.57	0.23409	.	0.636064	0.15283	N	0.270573	T	0.07954	0.0199	N	0.20685	0.6	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.30179	-0.9987	10	0.87932	D	0	.	4.5403	0.12054	0.0:0.5347:0.1809:0.2844	.	1550	Q9BXT5	TEX15_HUMAN	N	1550	ENSP00000256246:D1550N	ENSP00000256246:D1550N	D	-	1	0	TEX15	30821428	0.001000	0.12720	0.000000	0.03702	0.015000	0.08874	-0.054000	0.11826	0.064000	0.16427	0.655000	0.94253	GAC		0.388	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			38	70	0	0	0	1	0	38	70				
CYP4Z1	199974	broad.mit.edu	37	1	47533298	47533298	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr1:47533298T>C	ENST00000334194.3	+	1	139	c.136T>C	c.(136-138)Ttt>Ctt	p.F46L		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	46						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CCTGCACCTGTTTCCTGCACC	0.498																																						ENST00000334194.3																			0				cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						c.(136-138)Ttt>Ctt		cytochrome P450, family 4, subfamily Z, polypeptide 1							93.0	89.0	90.0					1																	47533298		2203	4300	6503	SO:0001583	missense	199974					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47533298T>C	AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"""Cytochrome P450s"""	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.136T>C	1.37:g.47533298T>C	ENSP00000334246:p.Phe46Leu						p.F46L	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN			1	139	+			46					Q5VVE4	Missense_Mutation	SNP	ENST00000334194.3	37	c.136T>C	CCDS545.1	.	.	.	.	.	.	.	.	.	.	T	16.37	3.105164	0.56291	.	.	ENSG00000186160	ENST00000334194	T	0.67345	-0.26	3.1	3.1	0.35709	.	0.000000	0.64402	U	0.000010	T	0.70552	0.3237	L	0.39898	1.24	0.26499	N	0.974801	D	0.63880	0.993	D	0.72625	0.978	T	0.60357	-0.7279	10	0.87932	D	0	.	7.6568	0.28379	0.0:0.0:0.0:1.0	.	46	Q86W10	CP4Z1_HUMAN	L	46	ENSP00000334246:F46L	ENSP00000334246:F46L	F	+	1	0	CYP4Z1	47305885	0.811000	0.29063	0.167000	0.22817	0.013000	0.08279	2.269000	0.43346	1.274000	0.44362	0.378000	0.23410	TTT		0.498	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022020.1	NM_178134		31	43	0	0	0	1	0	31	43				
MBD4	8930	broad.mit.edu	37	3	129155916	129155916	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr3:129155916G>A	ENST00000249910.1	-	3	746	c.571C>T	c.(571-573)Ccg>Tcg	p.P191S	MBD4_ENST00000509587.1_Intron|MBD4_ENST00000503197.1_Missense_Mutation_p.P191S|MBD4_ENST00000429544.2_Missense_Mutation_p.P191S|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000507208.1_Missense_Mutation_p.P191S	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	191					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						CTACTTGGCGGCATAAACACA	0.443								Base excision repair (BER), DNA glycosylases																														ENST00000429544.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						c.(571-573)Ccg>Tcg	Base excision repair (BER), DNA glycosylases	methyl-CpG binding domain protein 4							145.0	153.0	151.0					3																	129155916		2203	4300	6503	SO:0001583	missense	8930				depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding	g.chr3:129155916G>A	AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.571C>T	3.37:g.129155916G>A	ENSP00000249910:p.Pro191Ser					MBD4_ENST00000503197.1_Missense_Mutation_p.P191S|MBD4_ENST00000249910.1_Missense_Mutation_p.P191S|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000507208.1_Missense_Mutation_p.P191S|MBD4_ENST00000393278.2_Intron	p.P191S	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN			3	766	-			191					B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000249910.1	37	c.571C>T	CCDS3058.1	.	.	.	.	.	.	.	.	.	.	G	5.883	0.347124	0.11126	.	.	ENSG00000129071	ENST00000429544;ENST00000249910;ENST00000503197;ENST00000507208	D;D;D;D	0.92965	-2.93;-2.93;-3.14;-3.13	5.52	2.73	0.32206	.	1.116230	0.06686	N	0.768725	T	0.81422	0.4819	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.001;0.003;0.002;0.001	T	0.69785	-0.5051	10	0.56958	D	0.05	-0.0057	5.7883	0.18347	0.1473:0.0:0.5833:0.2694	.	191;191;191;191	E9PEE4;O95243-2;O95243-3;O95243	.;.;.;MBD4_HUMAN	S	191	ENSP00000394080:P191S;ENSP00000249910:P191S;ENSP00000424873:P191S;ENSP00000422327:P191S	ENSP00000249910:P191S	P	-	1	0	MBD4	130638606	0.004000	0.15560	0.005000	0.12908	0.003000	0.03518	0.522000	0.22909	0.289000	0.22422	-0.143000	0.13931	CCG		0.443	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355529.1	NM_003925		9	535	0	0	0	1	0	9	535				
PCDHGB7	56099	broad.mit.edu	37	5	140799248	140799248	+	Missense_Mutation	SNP	G	G	A	rs377117997		TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr5:140799248G>A	ENST00000398594.2	+	1	1822	c.1822G>A	c.(1822-1824)Gtg>Atg	p.V608M	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	608	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCTACCACGTGGTGCAGGC	0.687																																						ENST00000398594.2																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56						c.(1822-1824)Gtg>Atg				G	,,,,,,,,,,,,,,,MET/VAL,,MET/VAL	0,4382		0,0,2191	37.0	42.0	41.0		,,,,,,,,,,,,,,,1822,,1822	3.8	1.0	5		41	2,8590		0,2,4294	no	intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense,intron,missense	PCDHGB4,PCDHGA8,PCDHGB7,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA10,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_018912.2,NM_018913.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_018926.2,NM_018927.3,NM_032088.1,NM_032101.2	,,,,,,,,,,,,,,,21,,21	0,2,6485	AA,AG,GG		0.0233,0.0,0.0154	,,,,,,,,,,,,,,,,,	,,,,,,,,,,,,,,,608/930,,608/809	140799248	2,12972	2191	4296	6487	SO:0001583	missense	0							g.chr5:140799248G>A	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1822G>A	5.37:g.140799248G>A	ENSP00000381594:p.Val608Met					PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron	p.V608M	NM_018927.3	NP_061750.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1822	+								Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	c.1822G>A	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	g	13.69	2.311377	0.40895	0.0	2.33E-4	ENSG00000254122	ENST00000398594	T	0.52295	0.67	5.57	3.78	0.43462	Cadherin (4);Cadherin-like (1);	0.000000	0.30076	U	0.010477	T	0.53449	0.1797	L	0.52823	1.66	0.23249	N	0.998042	D;D	0.71674	0.998;0.993	P;P	0.60473	0.875;0.705	T	0.47045	-0.9147	10	0.62326	D	0.03	.	4.1663	0.10308	0.0761:0.1739:0.5018:0.2483	.	608;608	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	M	608	ENSP00000381594:V608M	ENSP00000381594:V608M	V	+	1	0	PCDHGB7	140779432	0.001000	0.12720	1.000000	0.80357	0.586000	0.36452	-0.045000	0.12003	0.701000	0.31803	-0.424000	0.05967	GTG		0.687	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		4	105	0	0	0	1	0	4	105				
OR2C3	81472	broad.mit.edu	37	1	247695157	247695157	+	Silent	SNP	G	G	A	rs570164676		TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr1:247695157G>A	ENST00000366487.3	-	2	1018	c.657C>T	c.(655-657)taC>taT	p.Y219Y	GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366491.2_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CAATGTGGCCGTAAGAGACCA	0.542																																						ENST00000366487.3																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43						c.(655-657)taC>taT		olfactory receptor, family 2, subfamily C, member 3							88.0	86.0	87.0					1																	247695157		2203	4300	6503	SO:0001819	synonymous_variant	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247695157G>A	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.657C>T	1.37:g.247695157G>A						GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527541.1_Intron	p.Y219Y	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	1018	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	219					Q5JQS4|Q6IEZ1|Q8NGW7	Silent	SNP	ENST00000366487.3	37	c.657C>T	CCDS1634.2																																																																																				0.542	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		4	62	0	0	0	1	0	4	62				
SULT4A1	25830	broad.mit.edu	37	22	44234801	44234801	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr22:44234801T>A	ENST00000330884.4	-	4	574	c.454A>T	c.(454-456)Atg>Ttg	p.M152L	SULT4A1_ENST00000540422.1_Intron|SULT4A1_ENST00000249130.5_Missense_Mutation_p.M152L	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	152					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		CGGTAGCTCATGGTCCGCAGA	0.532																																						ENST00000330884.4																			0				kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9						c.(454-456)Atg>Ttg		sulfotransferase family 4A, member 1							108.0	88.0	95.0					22																	44234801		2203	4300	6503	SO:0001583	missense	25830				3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity	g.chr22:44234801T>A	AF188698	CCDS14051.1	22q13.2	2012-11-05			ENSG00000130540	ENSG00000130540		"""Sulfotransferases, cytosolic"""	14903	protein-coding gene	gene with protein product		608359				10698717	Standard	NM_014351		Approved	SULTX3, hBR-STL-1	uc003bee.1	Q9BR01	OTTHUMG00000141314	ENST00000330884.4:c.454A>T	22.37:g.44234801T>A	ENSP00000332565:p.Met152Leu					SULT4A1_ENST00000540422.1_Intron|SULT4A1_ENST00000249130.5_Missense_Mutation_p.M152L	p.M152L	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)	4	574	-		Ovarian(80;0.024)|all_neural(38;0.0416)	152					B2R7N3|O43728	Missense_Mutation	SNP	ENST00000330884.4	37	c.454A>T	CCDS14051.1	.	.	.	.	.	.	.	.	.	.	T	10.24	1.296310	0.23650	.	.	ENSG00000130540	ENST00000330884;ENST00000249130	T;T	0.01422	4.91;4.91	4.82	4.82	0.62117	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.00815	0.0027	N	0.02658	-0.545	0.58432	D	0.999997	B	0.32893	0.389	B	0.34536	0.185	T	0.60964	-0.7158	10	0.06365	T	0.9	.	13.5437	0.61690	0.0:0.0:0.0:1.0	.	152	Q9BR01	ST4A1_HUMAN	L	152	ENSP00000332565:M152L;ENSP00000249130:M152L	ENSP00000249130:M152L	M	-	1	0	SULT4A1	42566134	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.629000	0.83207	1.809000	0.52856	0.459000	0.35465	ATG		0.532	SULT4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280660.2	NM_014351		25	48	0	0	0	1	0	25	48				
STK24	8428	broad.mit.edu	37	13	99127163	99127163	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr13:99127163G>T	ENST00000376547.3	-	5	690	c.545C>A	c.(544-546)aCa>aAa	p.T182K	STK24_ENST00000397517.2_Missense_Mutation_p.T170K|STK24_ENST00000539966.1_Missense_Mutation_p.T151K	NM_003576.3	NP_003567.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	182	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of cell migration (GO:0030336)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of axon regeneration (GO:0048679)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CTGGGTGTCTGTCAGCTGGCC	0.612																																						ENST00000397517.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17						c.(508-510)aCa>aAa		serine/threonine kinase 24							65.0	67.0	66.0					13																	99127163		2203	4300	6503	SO:0001583	missense	8428				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr13:99127163G>T	AF024636	CCDS9488.1, CCDS32001.1, CCDS66573.1	13q31.2-q32.3	2010-06-25	2010-06-25		ENSG00000102572	ENSG00000102572			11403	protein-coding gene	gene with protein product	"""STE20-like kinase 3"", ""sterile 20-like kinase 3"""	604984	"""serine/threonine kinase 24 (Ste20, yeast homolog)"""			9353338, 10644707	Standard	NM_003576		Approved	MST-3, MST3, MST3B, STK3, STE20	uc001vnn.1	Q9Y6E0	OTTHUMG00000017250	ENST00000376547.3:c.545C>A	13.37:g.99127163G>T	ENSP00000365730:p.Thr182Lys					STK24_ENST00000539966.1_Missense_Mutation_p.T151K|STK24_ENST00000376547.3_Missense_Mutation_p.T182K	p.T170K	NM_001032296.2	NP_001027467.2	Q9Y6E0	STK24_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		5	585	-	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		182			Protein kinase.		O14840|Q5JV92	Missense_Mutation	SNP	ENST00000376547.3	37	c.509C>A	CCDS9488.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.73|19.73	3.881107|3.881107	0.72294|0.72294	.|.	.|.	ENSG00000102572|ENSG00000102572	ENST00000444574|ENST00000397517;ENST00000376547;ENST00000539966;ENST00000376533;ENST00000543110	.|T;T;T	.|0.65178	.|-0.14;-0.14;-0.14	5.24|5.24	4.38|4.38	0.52667|0.52667	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.109437	.|0.39210	.|U	.|0.001425	T|T	0.56140|0.56140	0.1965|0.1965	N|N	0.02192|0.02192	-0.645|-0.645	0.80722|0.80722	D|D	1|1	.|P;D;D	.|0.71674	.|0.789;0.994;0.998	.|B;P;D	.|0.65987	.|0.161;0.811;0.94	T|T	0.71361|0.71361	-0.4616|-0.4616	5|10	.|0.87932	.|D	.|0	.|.	15.3486|15.3486	0.74363|0.74363	0.0:0.0:0.8591:0.1409|0.0:0.0:0.8591:0.1409	.|.	.|151;170;182	.|B4DR80;Q5U0E6;Q9Y6E0	.|.;.;STK24_HUMAN	E|K	87|170;182;151;158;170	.|ENSP00000380651:T170K;ENSP00000365730:T182K;ENSP00000442539:T151K	.|ENSP00000365716:T158K	D|T	-|-	3|2	2|0	STK24|STK24	97925164|97925164	1.000000|1.000000	0.71417|0.71417	0.863000|0.863000	0.33907|0.33907	0.844000|0.844000	0.47949|0.47949	9.480000|9.480000	0.97931|0.97931	1.304000|1.304000	0.44892|0.44892	0.655000|0.655000	0.94253|0.94253	GAC|ACA		0.612	STK24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045549.2	NM_003576		13	33	1	0	1.49906e-05	1	1.58991e-05	13	33				
CTNNA2	1496	broad.mit.edu	37	2	80874771	80874771	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr2:80874771C>T	ENST00000402739.4	+	18	2641	c.2636C>T	c.(2635-2637)aCg>aTg	p.T879M	CTNNA2_ENST00000343114.3_Missense_Mutation_p.T510M|CTNNA2_ENST00000540488.1_Missense_Mutation_p.T786M|CTNNA2_ENST00000541047.1_Missense_Mutation_p.T831M|CTNNA2_ENST00000496558.1_Missense_Mutation_p.T831M|CTNNA2_ENST00000466387.1_Missense_Mutation_p.T831M|CTNNA2_ENST00000361291.4_Missense_Mutation_p.T865M	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	879					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GTTGTCCTCACGGTGAAAGCA	0.478																																						ENST00000466387.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(2491-2493)aCg>aTg		catenin (cadherin-associated protein), alpha 2							149.0	147.0	148.0					2																	80874771		1973	4187	6160	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80874771C>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2636C>T	2.37:g.80874771C>T	ENSP00000384638:p.Thr879Met					CTNNA2_ENST00000402739.4_Missense_Mutation_p.T879M|CTNNA2_ENST00000540488.1_Missense_Mutation_p.T786M|CTNNA2_ENST00000496558.1_Missense_Mutation_p.T831M|CTNNA2_ENST00000343114.3_Missense_Mutation_p.T510M|CTNNA2_ENST00000361291.4_Missense_Mutation_p.T865M|CTNNA2_ENST00000541047.1_Missense_Mutation_p.T831M	p.T831M			P26232	CTNA2_HUMAN			22	3216	+			879					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.2492C>T		.	.	.	.	.	.	.	.	.	.	C	23.2	4.382426	0.82792	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59;0.59	5.97	5.97	0.96955	.	0.120444	0.56097	D	0.000030	T	0.80253	0.4589	M	0.91717	3.235	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	T	0.82721	-0.0317	9	.	.	.	.	20.428	0.99075	0.0:1.0:0.0:0.0	.	463;879;786;831	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	M	831;831;865;879;831;786;510	ENSP00000418191:T831M;ENSP00000419295:T831M;ENSP00000355398:T865M;ENSP00000384638:T879M;ENSP00000444675:T831M;ENSP00000441705:T786M;ENSP00000341500:T510M	.	T	+	2	0	CTNNA2	80728282	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.837000	0.97791	0.655000	0.94253	ACG		0.478	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		44	65	0	0	0	1	0	44	65				
GPBAR1	151306	broad.mit.edu	37	2	219127538	219127538	+	Missense_Mutation	SNP	G	G	A	rs201530699		TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr2:219127538G>A	ENST00000522678.1	+	2	959	c.91G>A	c.(91-93)Gcg>Acg	p.A31T	GPBAR1_ENST00000519574.1_Missense_Mutation_p.A31T|GPBAR1_ENST00000521462.1_Missense_Mutation_p.A31T|GPBAR1_ENST00000479077.1_Missense_Mutation_p.A31T	NM_001077191.1	NP_001070659.1	Q8TDU6	GPBAR_HUMAN	G protein-coupled bile acid receptor 1	31					cell surface bile acid receptor signaling pathway (GO:0038184)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid receptor activity (GO:0038181)|G-protein coupled bile acid receptor activity (GO:0038182)			cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATCATCACCGCGAACCTGCT	0.672																																						ENST00000522678.1																			0				cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4						c.(91-93)Gcg>Acg		G protein-coupled bile acid receptor 1							23.0	28.0	26.0					2																	219127538		2063	4202	6265	SO:0001583	missense	151306					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:219127538G>A	AB086170	CCDS46515.1	2q35	2012-08-08			ENSG00000179921	ENSG00000179921			19680	protein-coding gene	gene with protein product		610147				12419312	Standard	NM_170699		Approved	BG37, GPCR, TGR5, M-BAR, GPCR19, GPR131, MGC40597	uc010zjw.1	Q8TDU6	OTTHUMG00000155203	ENST00000522678.1:c.91G>A	2.37:g.219127538G>A	ENSP00000430886:p.Ala31Thr					GPBAR1_ENST00000479077.1_Missense_Mutation_p.A31T|GPBAR1_ENST00000519574.1_Missense_Mutation_p.A31T|GPBAR1_ENST00000521462.1_Missense_Mutation_p.A31T	p.A31T	NM_001077191.1	NP_001070659.1	Q8TDU6	GPBAR_HUMAN		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	959	+		Renal(207;0.0474)	31					B3KV35	Missense_Mutation	SNP	ENST00000522678.1	37	c.91G>A	CCDS46515.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.659533	0.29515	.	.	ENSG00000179921	ENST00000479077;ENST00000522678;ENST00000519574;ENST00000521462	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	4.62	4.62	0.57501	GPCR, rhodopsin-like superfamily (1);	0.098445	0.41097	U	0.000960	T	0.34106	0.0886	L	0.36672	1.1	0.33413	D	0.578843	D	0.56968	0.978	P	0.51355	0.667	T	0.49466	-0.8937	10	0.54805	T	0.06	-7.4652	5.807	0.18446	0.0957:0.0:0.7107:0.1936	.	31	Q8TDU6	GPBAR_HUMAN	T	31	ENSP00000430698:A31T;ENSP00000430886:A31T;ENSP00000430202:A31T;ENSP00000428824:A31T	ENSP00000430698:A31T	A	+	1	0	GPBAR1	218835783	0.999000	0.42202	0.937000	0.37676	0.012000	0.07955	2.968000	0.49224	2.415000	0.81967	0.555000	0.69702	GCG		0.672	GPBAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338767.3	NM_001077191		11	19	0	0	0	1	0	11	19				
CTSG	1511	broad.mit.edu	37	14	25043658	25043658	+	Silent	SNP	C	C	A			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr14:25043658C>A	ENST00000216336.2	-	4	423	c.387G>T	c.(385-387)ctG>ctT	p.L129L		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	129	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		GGGCTCTAGGCAGAGCCACTG	0.627																																						ENST00000216336.2																			0				autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25						c.(385-387)ctG>ctT		cathepsin G							112.0	111.0	111.0					14																	25043658		2203	4300	6503	SO:0001819	synonymous_variant	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25043658C>A	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.387G>T	14.37:g.25043658C>A							p.L129L	NM_001911.2	NP_001902.1	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	4	423	-			129			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Silent	SNP	ENST00000216336.2	37	c.387G>T	CCDS9631.1																																																																																				0.627	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		21	107	1	0	1.50039e-11	1	1.69399e-11	21	107				
CCDC28B	79140	broad.mit.edu	37	1	32670247	32670248	+	Intron	DEL	TG	TG	-			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr1:32670247_32670248delTG	ENST00000373602.5	+	5	895				RP4-622L5.7_ENST00000373604.4_RNA|IQCC_ENST00000291358.6_5'Flank|RP4-622L5.7_ENST00000421616.1_RNA|IQCC_ENST00000537469.1_5'Flank|CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000421922.2_Frame_Shift_Del_p.C192fs	NM_024296.3	NP_077272.2	Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B						cilium assembly (GO:0042384)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACCCGTCTATGTGTGTGTGTT	0.5																																						ENST00000421922.2																			0				large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(574-576)tfs		coiled-coil domain containing 28B																																				SO:0001627	intron_variant	79140							g.chr1:32670247_32670248delTG	BC022848	CCDS354.2, CCDS72749.1	1p36.11-p34.2	2008-02-05			ENSG00000160050	ENSG00000160050			28163	protein-coding gene	gene with protein product		610162				16327777	Standard	XM_006710892		Approved	MGC1203, RP4-622L5.5	uc001bul.1	Q9BUN5	OTTHUMG00000005738	ENST00000373602.5:c.548+26TG>-	1.37:g.32670255_32670256delTG						CCDC28B_ENST00000373602.5_Intron|CCDC28B_ENST00000483009.1_Intron	p.C192fs			Q9BUN5	CC28B_HUMAN			5	674_675	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	0					A8K789|Q8TBV8	Frame_Shift_Del	DEL	ENST00000373602.5	37	c.574_575delTG	CCDS354.2																																																																																				0.500	CCDC28B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015723.4	NM_024296		7	307						7	307	---	---	---	---
DBR1	51163	broad.mit.edu	37	3	137880744	137880746	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr3:137880744_137880746delTCA	ENST00000260803.4	-	8	1773_1775	c.1620_1622delTGA	c.(1618-1623)gatgac>gac	p.540_541DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.306_307DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	540					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						AGCTGCATCGTCATCATCATCAT	0.399																																						ENST00000260803.4																			0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(1618-1623)gac>ga		debranching RNA lariats 1																																				SO:0001651	inframe_deletion	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137880744_137880746delTCA	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.1620_1622delTGA	3.37:g.137880753_137880755delTCA	ENSP00000260803:p.Asp542del					DBR1_ENST00000505015.2_In_Frame_Del_p.DD306del	p.DD540del	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN			8	1773_1775	-			540					Q96GH0|Q9NXQ6	In_Frame_Del	DEL	ENST00000260803.4	37	c.1620_1622delTGA	CCDS33863.1																																																																																				0.399	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			7	475						7	475	---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89692959	89692960	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr10:89692959_89692960insA	ENST00000371953.3	+	5	1800_1801	c.443_444insA	c.(442-447)gcacaafs	p.Q149fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	149	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.K147fs*5(1)|p.A148E(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTTTTAAAGGCACAAGAGGCCC	0.381		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		52	Whole gene deletion(37)|Deletion - Frameshift(9)|Unknown(5)|Substitution - Missense(1)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.K147fs*5(1)|p.A148E(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(11)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|thyroid(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(442-444)gcafs		phosphatase and tensin homolog																																				SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692959_89692960insA	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.444dupA	10.37:g.89692960_89692960dupA	ENSP00000361021:p.Gln149fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.A148fs	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1800_1801	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	148			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Ins	INS	ENST00000371953.3	37	c.443_444insA	CCDS31238.1																																																																																				0.381	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		40	24						40	24	---	---	---	---
POLR3B	55703	broad.mit.edu	37	12	106820973	106820973	+	Splice_Site	DEL	A	A	-			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr12:106820973delA	ENST00000228347.4	+	13	1323		c.e13-1		POLR3B_ENST00000539066.1_Splice_Site|POLR3B_ENST00000549195.1_Splice_Site	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B						defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTTTTTTTTAGCTTTTATCT	0.269																																						ENST00000228347.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.e13-1		polymerase (RNA) III (DNA directed) polypeptide B							9.0	10.0	9.0					12																	106820973		2166	4272	6438	SO:0001630	splice_region_variant	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106820973delA	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1102-1A>-	12.37:g.106820973delA						POLR3B_ENST00000539066.1_Splice_Site|POLR3B_ENST00000549195.1_Splice_Site		NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			13	1323	+								A8K6H0|B3KV73|F5H1E6|Q9NW59	Splice_Site	DEL	ENST00000228347.4	37		CCDS9105.1																																																																																				0.269	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082	Intron	2	4						2	4	---	---	---	---
HTR2A	3356	broad.mit.edu	37	13	47409098	47409099	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr13:47409098_47409099insT	ENST00000378688.4	-	3	1420_1421	c.1289_1290insA	c.(1288-1290)aagfs	p.K430fs	HTR2A_ENST00000543956.1_Frame_Shift_Ins_p.K346fs|HTR2A_ENST00000542664.1_Frame_Shift_Ins_p.K430fs			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	430					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GCTTTGAATTCTTTTTTTGTCC	0.401																																						ENST00000378688.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1288-1290)aaafs		5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)																																			SO:0001589	frameshift_variant	3356				ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	g.chr13:47409098_47409099insT	X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5293	protein-coding gene	gene with protein product		182135	"""5-hydroxytryptamine (serotonin) receptor 2A"""	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.1290dupA	13.37:g.47409105_47409105dupT	ENSP00000367959:p.Lys430fs					HTR2A_ENST00000542664.1_Frame_Shift_Ins_p.K430fs|HTR2A_ENST00000543956.1_Frame_Shift_Ins_p.K346fs	p.K430fs			P28223	5HT2A_HUMAN		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	3	1420_1421	-		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)	430					B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Frame_Shift_Ins	INS	ENST00000378688.4	37	c.1289_1290insA	CCDS9405.1																																																																																				0.401	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621		45	43						45	43	---	---	---	---
