#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
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			5	33	0	0	0	1	0	5	33				
EXOC2	55770	broad.mit.edu	37	6	637797	637797	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr6:637797G>A	ENST00000230449.4	-	2	157	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	8	IPT/TIG.				cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.Q6fs*28(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GTCACAAGGGGGGGTTGTCGT	0.473																																						ENST00000230449.4																			1	Deletion - Frameshift(1)	p.Q6fs*28(1)	ovary(1)	breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46						c.(22-24)Ccc>Tcc		exocyst complex component 2							119.0	118.0	119.0					6																	637797		2203	4300	6503	SO:0001583	missense	55770				exocytosis|protein transport			g.chr6:637797G>A	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.22C>T	6.37:g.637797G>A	ENSP00000230449:p.Pro8Ser					EXOC2_ENST00000448181.3_Intron	p.P8S	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	2	157	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	8			IPT/TIG.		B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	ENST00000230449.4	37	c.22C>T	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.975654	0.74360	.	.	ENSG00000112685	ENST00000230449;ENST00000443083	D;D	0.84442	-1.85;-1.85	5.29	5.29	0.74685	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94948	0.8366	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96114	0.9079	10	0.87932	D	0	-23.5931	19.2731	0.94018	0.0:0.0:1.0:0.0	.	8	Q96KP1	EXOC2_HUMAN	S	8	ENSP00000230449:P8S;ENSP00000406400:P8S	ENSP00000230449:P8S	P	-	1	0	EXOC2	582797	1.000000	0.71417	0.981000	0.43875	0.281000	0.26958	9.081000	0.94049	2.624000	0.88883	0.563000	0.77884	CCC		0.473	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		49	51	0	0	0	1	0	49	51				
BAGE2	85319	broad.mit.edu	37	21	11058340	11058340	+	RNA	SNP	A	A	C	rs28617310	byFrequency	TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr21:11058340A>C	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGGGTAAAGGAGAGAAATCTC	0.363													a|||	41	0.0081869	0.0136	0.0014	5008	,	,		64928	0.002		0.005	False		,,,				2504	0.0153					ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11058340A>C	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058340A>C												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.363	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		8	110	0	0	0	1	0	8	110				
ZNF90	7643	broad.mit.edu	37	19	20228941	20228941	+	Missense_Mutation	SNP	A	A	G	rs61998186	byFrequency	TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr19:20228941A>G	ENST00000418063.2	+	4	690	c.578A>G	c.(577-579)aAa>aGa	p.K193R	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	193					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						ACACATAAGAAAATTCATACT	0.383													a|||	614	0.122604	0.0076	0.1873	5008	,	,		20447	0.3393		0.0885	False		,,,				2504	0.044					ENST00000418063.2																			0				breast(1)|lung(2)|ovary(1)|skin(1)	5						c.(577-579)aAa>aGa		zinc finger protein 90		A	ARG/LYS	24,1360		0,24,668	27.0	25.0	26.0		578	1.2	0.1	19	dbSNP_129	26	300,2882		14,272,1305	no	missense	ZNF90	NM_007138.1	26	14,296,1973	GG,GA,AA		9.428,1.7341,7.0959	benign	193/602	20228941	324,4242	692	1591	2283	SO:0001583	missense	7643					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20228941A>G	M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"""Zinc fingers, C2H2-type"", ""-"""	13165	protein-coding gene	gene with protein product		603973	"""zinc finger protein 90 (HTF9)"""			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.578A>G	19.37:g.20228941A>G	ENSP00000410466:p.Lys193Arg					ZNF90_ENST00000474284.1_Intron	p.K193R	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN			4	690	+			193					B9EH87	Missense_Mutation	SNP	ENST00000418063.2	37	c.578A>G	CCDS46028.1	314	0.14377289377289376	7	0.014227642276422764	56	0.15469613259668508	184	0.32167832167832167	67	0.08839050131926121	A	0.017	-1.495373	0.01009	0.017341	0.09428	ENSG00000213988	ENST00000418063	T	0.12984	2.63	1.18	1.18	0.20946	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.02697	-0.525	0.58432	P	4.000000000004E-6	B	0.26512	0.151	B	0.30716	0.119	T	0.48293	-0.9048	7	.	.	.	.	2.9598	0.05889	0.701:0.0:0.299:0.0	rs61998186	193	Q03938	ZNF90_HUMAN	R	193	ENSP00000410466:K193R	.	K	+	2	0	ZNF90	20089941	0.000000	0.05858	0.075000	0.20258	0.075000	0.17131	-0.704000	0.05058	0.251000	0.21505	0.248000	0.18094	AAA		0.383	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350101.1	NM_007138		3	28	0	0	0	1	0	3	28				
WBP11P1	441818	broad.mit.edu	37	18	30092327	30092327	+	RNA	SNP	G	G	A	rs1985293	byFrequency	TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr18:30092327G>A	ENST00000567636.1	+	0	702					NR_003558.1				WW domain binding protein 11 pseudogene 1																		CCCTCAGCCTGTGGACCTCCA	0.517													A|||	3268	0.652556	0.4887	0.562	5008	,	,		20192	0.8522		0.661	False		,,,				2504	0.7239					ENST00000567636.1																			0																																																			0							g.chr18:30092327G>A	BC059403		18q12.1	2007-05-15				ENSG00000260389			26250	pseudogene	pseudogene							Standard	NR_003558		Approved	HsT3017	uc010dmc.3				18.37:g.30092327G>A								NR_003558.1						0	702	+									RNA	SNP	ENST00000567636.1	37																																																																																						0.517	WBP11P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000435119.1			3	31	0	0	0	1	0	3	31				
SUFU	51684	broad.mit.edu	37	10	104353455	104353455	+	Silent	SNP	G	G	A			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr10:104353455G>A	ENST00000369902.3	+	5	826	c.660G>A	c.(658-660)ctG>ctA	p.L220L	SUFU_ENST00000423559.2_Silent_p.L220L|SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000369899.2_Silent_p.L220L|RNU6-43P_ENST00000384302.1_RNA	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	220					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		AGGGCATCCTGGAGCTGCTGC	0.612			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																													ENST00000369902.3			yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	"""D, F, S"""	suppressor of fused homolog (Drosophila)			O		medulloblastoma	medulloblastoma		0				breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24						c.(658-660)ctG>ctA		suppressor of fused homolog (Drosophila)							86.0	75.0	79.0					10																	104353455		2203	4300	6503	SO:0001819	synonymous_variant	51684	Medulloblastoma, associated with Germline SUFU Mutation	Familial Cancer Database		negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding	g.chr10:104353455G>A	AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.660G>A	10.37:g.104353455G>A						SUFU_ENST00000423559.2_Silent_p.L220L|SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000369899.2_Silent_p.L220L	p.L220L	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)	5	826	+		Colorectal(252;0.207)	220					Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Silent	SNP	ENST00000369902.3	37	c.660G>A	CCDS7537.1																																																																																				0.612	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050089.1	NM_016169		3	28	0	0	0	1	0	3	28				
USP9X	8239	broad.mit.edu	37	X	41073950	41073950	+	Silent	SNP	A	A	G			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chrX:41073950A>G	ENST00000324545.8	+	34	5952	c.5319A>G	c.(5317-5319)aaA>aaG	p.K1773K	USP9X_ENST00000378308.2_Silent_p.K1773K	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1773	USP.				axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATTGTGAAAAATGCAATAAAA	0.323																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(5317-5319)aaA>aaG		ubiquitin specific peptidase 9, X-linked							81.0	81.0	81.0					X																	41073950		2168	4280	6448	SO:0001819	synonymous_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41073950A>G	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.5319A>G	X.37:g.41073950A>G						USP9X_ENST00000378308.2_Silent_p.K1773K	p.K1773K	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			34	5952	+			1773					O75550|Q8WWT3|Q8WX12	Silent	SNP	ENST00000324545.8	37	c.5319A>G	CCDS43930.1																																																																																				0.323	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		19	68	0	0	0	1	0	19	68				
SLC22A13	9390	broad.mit.edu	37	3	38307656	38307656	+	Missense_Mutation	SNP	G	G	A	rs113229654	byFrequency	TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr3:38307656G>A	ENST00000311856.4	+	1	354	c.305G>A	c.(304-306)cGc>cAc	p.R102H	SLC22A13_ENST00000450935.2_Missense_Mutation_p.R61H	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	102					nicotinate transport (GO:2001142)|organic cation transport (GO:0015695)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	nicotinate transporter activity (GO:0090416)|organic cation transmembrane transporter activity (GO:0015101)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		CTCAGCCACCGCTTCAATGAG	0.592													G|||	11	0.00219649	0.0008	0.0	5008	,	,		21197	0.0		0.008	False		,,,				2504	0.002					ENST00000311856.4																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20						c.(304-306)cGc>cAc		solute carrier family 22 (organic anion/urate transporter), member 13		G	HIS/ARG	5,4401		0,5,2198	65.0	65.0	65.0		305	1.8	1.0	3	dbSNP_132	65	61,8539		0,61,4239	yes	missense	SLC22A13	NM_004256.3	29	0,66,6437	AA,AG,GG		0.7093,0.1135,0.5075	probably-damaging	102/552	38307656	66,12940	2203	4300	6503	SO:0001583	missense	9390					integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38307656G>A	AB010438	CCDS2676.1	3p22.2	2013-07-18	2013-07-18	2003-10-15	ENSG00000172940	ENSG00000172940		"""Solute carriers"""	8494	protein-coding gene	gene with protein product		604047	"""organic cationic transporter-like 3"", ""solute carrier family 22 (organic anion transporter), member 13"""	ORCTL3		10072596, 18411268	Standard	NM_004256		Approved	OCTL1, OCTL3, OAT10	uc003chz.3	Q9Y226	OTTHUMG00000131086	ENST00000311856.4:c.305G>A	3.37:g.38307656G>A	ENSP00000310241:p.Arg102His					SLC22A13_ENST00000450935.2_Missense_Mutation_p.R61H	p.R102H	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)	1	354	+			102					B2RCV9|Q8IYG1	Missense_Mutation	SNP	ENST00000311856.4	37	c.305G>A	CCDS2676.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	.	10.96	1.499538	0.26861	0.001135	0.007093	ENSG00000172940	ENST00000311856;ENST00000450935	T;T	0.65732	-0.17;0.73	4.59	1.8	0.24995	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.242931	0.46442	N	0.000295	T	0.45094	0.1325	M	0.67953	2.075	0.25137	N	0.990529	B;B	0.17667	0.023;0.014	B;B	0.12837	0.008;0.003	T	0.42120	-0.9470	10	0.38643	T	0.18	.	5.0987	0.14747	0.2385:0.0:0.6197:0.1418	.	102;102	Q9Y226-2;Q9Y226	.;S22AD_HUMAN	H	102;61	ENSP00000310241:R102H;ENSP00000406929:R61H	ENSP00000310241:R102H	R	+	2	0	SLC22A13	38282660	0.999000	0.42202	0.993000	0.49108	0.765000	0.43378	2.749000	0.47492	0.131000	0.18576	-0.336000	0.08194	CGC		0.592	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253746.2	NM_004256		3	36	0	0	0	1	0	3	36				
CTNNAL1	8727	broad.mit.edu	37	9	111706098	111706098	+	Splice_Site	SNP	T	T	A			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr9:111706098T>A	ENST00000325551.4	-	17	2028		c.e17-2		FAM206A_ENST00000374624.3_Intron|CTNNAL1_ENST00000374595.4_Splice_Site|CTNNAL1_ENST00000325580.6_Splice_Site|CTNNAL1_ENST00000374594.1_Splice_Site	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1						cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		GTCTTTCAGCTGAAATGTAAT	0.358																																						ENST00000374595.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25						c.e17-2		catenin (cadherin-associated protein), alpha-like 1							119.0	118.0	118.0					9																	111706098		2203	4300	6503	SO:0001630	splice_region_variant	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111706098T>A	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.1942-2A>T	9.37:g.111706098T>A						CTNNAL1_ENST00000325580.6_Splice_Site|CTNNAL1_ENST00000325551.4_Splice_Site|FAM206A_ENST00000374624.3_Intron|CTNNAL1_ENST00000374594.1_Splice_Site				Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	17	2021	-								B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Splice_Site	SNP	ENST00000325551.4	37		CCDS6775.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.019898	0.75275	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580;ENST00000374594	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6804	0.62481	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CTNNAL1	110745919	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.792000	0.69052	2.326000	0.78906	0.533000	0.62120	.		0.358	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798	Intron	14	47	0	0	0	1	0	14	47				
WASH3P	374666	broad.mit.edu	37	15	102516424	102516424	+	RNA	SNP	G	G	T	rs201105823		TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr15:102516424G>T	ENST00000557932.1	+	0	1372				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.P449P(4)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGCCGCCACCGCAGCAGCCAC	0.647																																						ENST00000557932.1																			4	Substitution - coding silent(4)	p.P449P(4)	endometrium(3)|kidney(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102516424G>T			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102516424G>T														0	1372	+									RNA	SNP	ENST00000557932.1	37																																																																																						0.647	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		4	38	1	0	1.06961e-07	1	1.06961e-07	4	38				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		19	37	0	0	0	1	0	19	37				
GPR112	139378	broad.mit.edu	37	X	135430491	135430491	+	Silent	SNP	A	A	C			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chrX:135430491A>C	ENST00000394143.1	+	6	4917	c.4626A>C	c.(4624-4626)acA>acC	p.T1542T	GPR112_ENST00000287534.4_Silent_p.T1479T|GPR112_ENST00000394141.1_Silent_p.T1337T|GPR112_ENST00000412101.1_Silent_p.T1337T|GPR112_ENST00000370652.1_Silent_p.T1542T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1542					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTTCTAAAACAATGCATCCAG	0.413																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(4624-4626)acA>acC		G protein-coupled receptor 112							105.0	101.0	102.0					X																	135430491		2203	4300	6503	SO:0001819	synonymous_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135430491A>C	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.4626A>C	X.37:g.135430491A>C						GPR112_ENST00000370652.1_Silent_p.T1542T|GPR112_ENST00000287534.4_Silent_p.T1479T|GPR112_ENST00000412101.1_Silent_p.T1337T|GPR112_ENST00000394141.1_Silent_p.T1337T	p.T1542T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	4917	+	Acute lymphoblastic leukemia(192;0.000127)		1542					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	c.4626A>C	CCDS35409.1																																																																																				0.413	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			5	122	0	0	0	1	0	5	122				
SP140	11262	broad.mit.edu	37	2	231113619	231113619	+	Silent	SNP	T	T	A			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr2:231113619T>A	ENST00000392045.3	+	9	1026	c.912T>A	c.(910-912)acT>acA	p.T304T	SP140_ENST00000343805.6_Silent_p.T278T|SP140_ENST00000350136.5_Silent_p.T234T|SP140_ENST00000420434.3_Silent_p.T304T|SP140_ENST00000417495.3_Silent_p.T251T|SP140_ENST00000486687.2_Silent_p.T228T	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	304					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ATCTAAAAACTCCCCAAGTCA	0.423																																						ENST00000392045.3																			0				NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						c.(910-912)acT>acA		SP140 nuclear body protein							122.0	108.0	112.0					2																	231113619		1824	4078	5902	SO:0001819	synonymous_variant	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231113619T>A	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.912T>A	2.37:g.231113619T>A						SP140_ENST00000343805.6_Silent_p.T278T|SP140_ENST00000486687.2_Silent_p.T228T|SP140_ENST00000350136.5_Silent_p.T234T|SP140_ENST00000417495.3_Silent_p.T251T|SP140_ENST00000420434.3_Silent_p.T304T	p.T304T	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	9	1026	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	304					E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Silent	SNP	ENST00000392045.3	37	c.912T>A	CCDS42831.1																																																																																				0.423	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		24	27	0	0	0	1	0	24	27				
NCR1	9437	broad.mit.edu	37	19	55423572	55423572	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr19:55423572C>T	ENST00000291890.4	+	6	757	c.719C>T	c.(718-720)aCg>aTg	p.T240M	NCR1_ENST00000447255.1_Missense_Mutation_p.T239M|NCR1_ENST00000350790.5_Missense_Mutation_p.T145M|NCR1_ENST00000594765.1_Missense_Mutation_p.T239M|NCR1_ENST00000338835.5_Intron|NCR1_ENST00000357397.5_Missense_Mutation_p.T133M|NCR1_ENST00000598576.1_Missense_Mutation_p.T227M	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	240					cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		ACCACAGAGACGGGACTCCAG	0.512																																						ENST00000594765.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18						c.(715-717)aCg>aTg		natural cytotoxicity triggering receptor 1							129.0	121.0	124.0					19																	55423572		2203	4300	6503	SO:0001583	missense	9437				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	g.chr19:55423572C>T	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6731	protein-coding gene	gene with protein product		604530	"""lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"""	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.719C>T	19.37:g.55423572C>T	ENSP00000291890:p.Thr240Met					NCR1_ENST00000357397.5_Missense_Mutation_p.T133M|NCR1_ENST00000598576.1_Missense_Mutation_p.T227M|NCR1_ENST00000291890.4_Missense_Mutation_p.T240M|NCR1_ENST00000338835.5_Intron|NCR1_ENST00000350790.5_Missense_Mutation_p.T145M|NCR1_ENST00000447255.1_Missense_Mutation_p.T239M	p.T239M			O76036	NCTR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0449)	6	741	+			240					B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	ENST00000291890.4	37	c.716C>T	CCDS12911.1	.	.	.	.	.	.	.	.	.	.	C	6.539	0.467713	0.12402	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000350790;ENST00000357397	T;T;T;T	0.00561	6.86;6.89;6.85;6.59	2.54	-0.969	0.10310	.	619.523000	0.00166	N	0.000000	T	0.00468	0.0015	L	0.51914	1.62	0.09310	N	1	P;P;P;P	0.39480	0.675;0.546;0.675;0.546	B;B;B;B	0.21360	0.034;0.026;0.034;0.015	T	0.48007	-0.9072	10	0.59425	D	0.04	.	2.4668	0.04554	0.2339:0.4865:0.0:0.2796	.	133;145;239;240	O76036-5;B0V3L2;O76036-6;O76036	.;.;.;NCTR1_HUMAN	M	240;239;145;133	ENSP00000291890:T240M;ENSP00000404434:T239M;ENSP00000344358:T145M;ENSP00000349972:T133M	ENSP00000291890:T240M	T	+	2	0	NCR1	60115384	0.000000	0.05858	0.000000	0.03702	0.138000	0.21146	-0.221000	0.09202	-0.097000	0.12307	-0.124000	0.14976	ACG		0.512	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1			34	46	0	0	0	1	0	34	46				
PTCHD3	374308	broad.mit.edu	37	10	27687711	27687711	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr10:27687711C>A	ENST00000438700.3	-	4	1933	c.1816G>T	c.(1816-1818)Gtc>Ttc	p.V606F		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	606					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TATATAAAGACTACAAAATAC	0.378																																						ENST00000438700.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						c.(1816-1818)Gtc>Ttc		patched domain containing 3							65.0	65.0	65.0					10																	27687711		2203	4300	6503	SO:0001583	missense	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27687711C>A	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.1816G>T	10.37:g.27687711C>A	ENSP00000417658:p.Val606Phe						p.V606F	NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN			4	1933	-			606					I3L499|Q6ZU28	Missense_Mutation	SNP	ENST00000438700.3	37	c.1816G>T	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	C	2.635	-0.285376	0.05605	.	.	ENSG00000182077	ENST00000438700	D	0.85339	-1.97	4.19	4.19	0.49359	.	0.487586	0.20899	N	0.083661	D	0.84120	0.5402	L	0.39397	1.21	0.09310	N	1	B	0.21071	0.051	B	0.37091	0.241	T	0.79037	-0.1967	10	0.72032	D	0.01	-23.7507	16.3031	0.82832	0.0:1.0:0.0:0.0	.	606	Q3KNS1	PTHD3_HUMAN	F	606	ENSP00000417658:V606F	ENSP00000417658:V606F	V	-	1	0	PTCHD3	27727717	0.720000	0.27996	0.069000	0.20011	0.054000	0.15201	1.114000	0.31196	2.173000	0.68751	0.484000	0.47621	GTC		0.378	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		19	38	1	0	1.56452e-12	1	1.62247e-12	19	38				
LRRC37A5P	652972	broad.mit.edu	37	9	114371322	114371322	+	RNA	SNP	T	T	A	rs4978450	byFrequency	TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr9:114371322T>A	ENST00000374304.1	-	0	477							Q49AS3	L37A5_HUMAN	leucine rich repeat containing 37, member A5, pseudogene																		TTTCTGTTCATTCTGGGCTTC	0.483													N|||	1847	0.36881	0.4448	0.5	5008	,	,		24010	0.4494		0.2266	False		,,,				2504	0.2362					ENST00000374304.1																			0																																																			0							g.chr9:114371322T>A	BC031236		9q31.3	2012-10-16	2012-03-07	2012-03-07	ENSG00000204173	ENSG00000204173			23369	pseudogene	pseudogene			"""chromosome 9 open reading frame 29"""	C9orf29			Standard	NR_034087		Approved		uc022bly.1	Q49AS3	OTTHUMG00000020494		9.37:g.114371322T>A														0	477	-								Q5JVP0	RNA	SNP	ENST00000374304.1	37			976	0.4468864468864469	327	0.6646341463414634	182	0.5027624309392266	262	0.458041958041958	205	0.2704485488126649	N	5.495	0.276247	0.10403	.	.	ENSG00000204173	ENST00000374306;ENST00000536054;ENST00000374304;ENST00000374302	.	.	.	0.957	0.957	0.19613	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.39440	-0.9614	4	0.87932	D	0	.	3.6859	0.08328	0.0:0.7303:0.0:0.2697	rs4978450;rs58397692	.	.	.	L	96;88;22;22	.	ENSP00000363420:M22L	M	-	1	0	C9orf29	113411143	0.323000	0.24643	0.355000	0.25773	0.022000	0.10575	-1.070000	0.03440	0.007000	0.14760	-0.997000	0.02515	ATG		0.483	LRRC37A5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000053655.2	NR_034087		3	33	0	0	0	1	0	3	33				
EXOC2	55770	broad.mit.edu	37	6	637797	637797	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	415c9e9c-96db-43f7-8e67-cc1d6bf5fef2	g.chr6:637797G>A	ENST00000230449.4	-	2	157	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	8	IPT/TIG.				cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.Q6fs*28(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GTCACAAGGGGGGGTTGTCGT	0.473																																						ENST00000230449.4																			1	Deletion - Frameshift(1)	p.Q6fs*28(1)	ovary(1)	breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46						c.(22-24)Ccc>Tcc		exocyst complex component 2							119.0	118.0	119.0					6																	637797		2203	4300	6503	SO:0001583	missense	55770				exocytosis|protein transport			g.chr6:637797G>A	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.22C>T	6.37:g.637797G>A	ENSP00000230449:p.Pro8Ser					EXOC2_ENST00000448181.3_Intron	p.P8S	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	2	157	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	8			IPT/TIG.		B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	ENST00000230449.4	37	c.22C>T	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.975654	0.74360	.	.	ENSG00000112685	ENST00000230449;ENST00000443083	D;D	0.84442	-1.85;-1.85	5.29	5.29	0.74685	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94948	0.8366	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96114	0.9079	10	0.87932	D	0	-23.5931	19.2731	0.94018	0.0:0.0:1.0:0.0	.	8	Q96KP1	EXOC2_HUMAN	S	8	ENSP00000230449:P8S;ENSP00000406400:P8S	ENSP00000230449:P8S	P	-	1	0	EXOC2	582797	1.000000	0.71417	0.981000	0.43875	0.281000	0.26958	9.081000	0.94049	2.624000	0.88883	0.563000	0.77884	CCC		0.473	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		49	51	0	0	0	1	0	49	51				
ZNF90	7643	broad.mit.edu	37	19	20228941	20228941	+	Missense_Mutation	SNP	A	A	G	rs61998186	byFrequency	TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	415c9e9c-96db-43f7-8e67-cc1d6bf5fef2	g.chr19:20228941A>G	ENST00000418063.2	+	4	690	c.578A>G	c.(577-579)aAa>aGa	p.K193R	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	193					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						ACACATAAGAAAATTCATACT	0.383													a|||	614	0.122604	0.0076	0.1873	5008	,	,		20447	0.3393		0.0885	False		,,,				2504	0.044					ENST00000418063.2																			0				breast(1)|lung(2)|ovary(1)|skin(1)	5						c.(577-579)aAa>aGa		zinc finger protein 90		A	ARG/LYS	24,1360		0,24,668	27.0	25.0	26.0		578	1.2	0.1	19	dbSNP_129	26	300,2882		14,272,1305	no	missense	ZNF90	NM_007138.1	26	14,296,1973	GG,GA,AA		9.428,1.7341,7.0959	benign	193/602	20228941	324,4242	692	1591	2283	SO:0001583	missense	7643					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20228941A>G	M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"""Zinc fingers, C2H2-type"", ""-"""	13165	protein-coding gene	gene with protein product		603973	"""zinc finger protein 90 (HTF9)"""			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.578A>G	19.37:g.20228941A>G	ENSP00000410466:p.Lys193Arg					ZNF90_ENST00000474284.1_Intron	p.K193R	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN			4	690	+			193					B9EH87	Missense_Mutation	SNP	ENST00000418063.2	37	c.578A>G	CCDS46028.1	314	0.14377289377289376	7	0.014227642276422764	56	0.15469613259668508	184	0.32167832167832167	67	0.08839050131926121	A	0.017	-1.495373	0.01009	0.017341	0.09428	ENSG00000213988	ENST00000418063	T	0.12984	2.63	1.18	1.18	0.20946	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.02697	-0.525	0.58432	P	4.000000000004E-6	B	0.26512	0.151	B	0.30716	0.119	T	0.48293	-0.9048	7	.	.	.	.	2.9598	0.05889	0.701:0.0:0.299:0.0	rs61998186	193	Q03938	ZNF90_HUMAN	R	193	ENSP00000410466:K193R	.	K	+	2	0	ZNF90	20089941	0.000000	0.05858	0.075000	0.20258	0.075000	0.17131	-0.704000	0.05058	0.251000	0.21505	0.248000	0.18094	AAA		0.383	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350101.1	NM_007138		3	28	0	0	0	1	0	3	28				
WBP11P1	441818	broad.mit.edu	37	18	30092327	30092327	+	RNA	SNP	G	G	A	rs1985293	byFrequency	TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	415c9e9c-96db-43f7-8e67-cc1d6bf5fef2	g.chr18:30092327G>A	ENST00000567636.1	+	0	702					NR_003558.1				WW domain binding protein 11 pseudogene 1																		CCCTCAGCCTGTGGACCTCCA	0.517													A|||	3268	0.652556	0.4887	0.562	5008	,	,		20192	0.8522		0.661	False		,,,				2504	0.7239					ENST00000567636.1																			0																																																			0							g.chr18:30092327G>A	BC059403		18q12.1	2007-05-15				ENSG00000260389			26250	pseudogene	pseudogene							Standard	NR_003558		Approved	HsT3017	uc010dmc.3				18.37:g.30092327G>A								NR_003558.1						0	702	+									RNA	SNP	ENST00000567636.1	37																																																																																						0.517	WBP11P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000435119.1			3	31	0	0	0	1	0	3	31				
SUFU	51684	broad.mit.edu	37	10	104353455	104353455	+	Silent	SNP	G	G	A			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	415c9e9c-96db-43f7-8e67-cc1d6bf5fef2	g.chr10:104353455G>A	ENST00000369902.3	+	5	826	c.660G>A	c.(658-660)ctG>ctA	p.L220L	SUFU_ENST00000423559.2_Silent_p.L220L|SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000369899.2_Silent_p.L220L|RNU6-43P_ENST00000384302.1_RNA	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	220					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		AGGGCATCCTGGAGCTGCTGC	0.612			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																													ENST00000369902.3			yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	"""D, F, S"""	suppressor of fused homolog (Drosophila)			O		medulloblastoma	medulloblastoma		0				breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24						c.(658-660)ctG>ctA		suppressor of fused homolog (Drosophila)							86.0	75.0	79.0					10																	104353455		2203	4300	6503	SO:0001819	synonymous_variant	51684	Medulloblastoma, associated with Germline SUFU Mutation	Familial Cancer Database		negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding	g.chr10:104353455G>A	AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.660G>A	10.37:g.104353455G>A						SUFU_ENST00000423559.2_Silent_p.L220L|SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000369899.2_Silent_p.L220L	p.L220L	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)	5	826	+		Colorectal(252;0.207)	220					Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Silent	SNP	ENST00000369902.3	37	c.660G>A	CCDS7537.1																																																																																				0.612	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050089.1	NM_016169		3	28	0	0	0	1	0	3	28				
USP9X	8239	broad.mit.edu	37	X	41073950	41073950	+	Silent	SNP	A	A	G			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	415c9e9c-96db-43f7-8e67-cc1d6bf5fef2	g.chrX:41073950A>G	ENST00000324545.8	+	34	5952	c.5319A>G	c.(5317-5319)aaA>aaG	p.K1773K	USP9X_ENST00000378308.2_Silent_p.K1773K	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1773	USP.				axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATTGTGAAAAATGCAATAAAA	0.323																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(5317-5319)aaA>aaG		ubiquitin specific peptidase 9, X-linked							81.0	81.0	81.0					X																	41073950		2168	4280	6448	SO:0001819	synonymous_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41073950A>G	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.5319A>G	X.37:g.41073950A>G						USP9X_ENST00000378308.2_Silent_p.K1773K	p.K1773K	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			34	5952	+			1773					O75550|Q8WWT3|Q8WX12	Silent	SNP	ENST00000324545.8	37	c.5319A>G	CCDS43930.1																																																																																				0.323	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		19	68	0	0	0	1	0	19	68				
SLC22A13	9390	broad.mit.edu	37	3	38307656	38307656	+	Missense_Mutation	SNP	G	G	A	rs113229654	byFrequency	TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	415c9e9c-96db-43f7-8e67-cc1d6bf5fef2	g.chr3:38307656G>A	ENST00000311856.4	+	1	354	c.305G>A	c.(304-306)cGc>cAc	p.R102H	SLC22A13_ENST00000450935.2_Missense_Mutation_p.R61H	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	102					nicotinate transport (GO:2001142)|organic cation transport (GO:0015695)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	nicotinate transporter activity (GO:0090416)|organic cation transmembrane transporter activity (GO:0015101)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		CTCAGCCACCGCTTCAATGAG	0.592													G|||	11	0.00219649	0.0008	0.0	5008	,	,		21197	0.0		0.008	False		,,,				2504	0.002					ENST00000311856.4																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20						c.(304-306)cGc>cAc		solute carrier family 22 (organic anion/urate transporter), member 13		G	HIS/ARG	5,4401		0,5,2198	65.0	65.0	65.0		305	1.8	1.0	3	dbSNP_132	65	61,8539		0,61,4239	yes	missense	SLC22A13	NM_004256.3	29	0,66,6437	AA,AG,GG		0.7093,0.1135,0.5075	probably-damaging	102/552	38307656	66,12940	2203	4300	6503	SO:0001583	missense	9390					integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38307656G>A	AB010438	CCDS2676.1	3p22.2	2013-07-18	2013-07-18	2003-10-15	ENSG00000172940	ENSG00000172940		"""Solute carriers"""	8494	protein-coding gene	gene with protein product		604047	"""organic cationic transporter-like 3"", ""solute carrier family 22 (organic anion transporter), member 13"""	ORCTL3		10072596, 18411268	Standard	NM_004256		Approved	OCTL1, OCTL3, OAT10	uc003chz.3	Q9Y226	OTTHUMG00000131086	ENST00000311856.4:c.305G>A	3.37:g.38307656G>A	ENSP00000310241:p.Arg102His					SLC22A13_ENST00000450935.2_Missense_Mutation_p.R61H	p.R102H	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)	1	354	+			102					B2RCV9|Q8IYG1	Missense_Mutation	SNP	ENST00000311856.4	37	c.305G>A	CCDS2676.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	.	10.96	1.499538	0.26861	0.001135	0.007093	ENSG00000172940	ENST00000311856;ENST00000450935	T;T	0.65732	-0.17;0.73	4.59	1.8	0.24995	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.242931	0.46442	N	0.000295	T	0.45094	0.1325	M	0.67953	2.075	0.25137	N	0.990529	B;B	0.17667	0.023;0.014	B;B	0.12837	0.008;0.003	T	0.42120	-0.9470	10	0.38643	T	0.18	.	5.0987	0.14747	0.2385:0.0:0.6197:0.1418	.	102;102	Q9Y226-2;Q9Y226	.;S22AD_HUMAN	H	102;61	ENSP00000310241:R102H;ENSP00000406929:R61H	ENSP00000310241:R102H	R	+	2	0	SLC22A13	38282660	0.999000	0.42202	0.993000	0.49108	0.765000	0.43378	2.749000	0.47492	0.131000	0.18576	-0.336000	0.08194	CGC		0.592	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253746.2	NM_004256		3	36	0	0	0	1	0	3	36				
CTNNAL1	8727	broad.mit.edu	37	9	111706098	111706098	+	Splice_Site	SNP	T	T	A			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	415c9e9c-96db-43f7-8e67-cc1d6bf5fef2	g.chr9:111706098T>A	ENST00000325551.4	-	17	2028		c.e17-2		FAM206A_ENST00000374624.3_Intron|CTNNAL1_ENST00000374595.4_Splice_Site|CTNNAL1_ENST00000325580.6_Splice_Site|CTNNAL1_ENST00000374594.1_Splice_Site	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1						cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		GTCTTTCAGCTGAAATGTAAT	0.358																																						ENST00000374595.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25						c.e17-2		catenin (cadherin-associated protein), alpha-like 1							119.0	118.0	118.0					9																	111706098		2203	4300	6503	SO:0001630	splice_region_variant	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111706098T>A	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.1942-2A>T	9.37:g.111706098T>A						CTNNAL1_ENST00000374594.1_Splice_Site|CTNNAL1_ENST00000325551.4_Splice_Site|CTNNAL1_ENST00000325580.6_Splice_Site|FAM206A_ENST00000374624.3_Intron				Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	17	2021	-								B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Splice_Site	SNP	ENST00000325551.4	37		CCDS6775.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.019898	0.75275	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580;ENST00000374594	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6804	0.62481	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CTNNAL1	110745919	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.792000	0.69052	2.326000	0.78906	0.533000	0.62120	.		0.358	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798	Intron	14	47	0	0	0	1	0	14	47				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	415c9e9c-96db-43f7-8e67-cc1d6bf5fef2	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		19	37	0	0	0	1	0	19	37				
GPR112	139378	broad.mit.edu	37	X	135430491	135430491	+	Silent	SNP	A	A	C			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	415c9e9c-96db-43f7-8e67-cc1d6bf5fef2	g.chrX:135430491A>C	ENST00000394143.1	+	6	4917	c.4626A>C	c.(4624-4626)acA>acC	p.T1542T	GPR112_ENST00000287534.4_Silent_p.T1479T|GPR112_ENST00000394141.1_Silent_p.T1337T|GPR112_ENST00000412101.1_Silent_p.T1337T|GPR112_ENST00000370652.1_Silent_p.T1542T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1542					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTTCTAAAACAATGCATCCAG	0.413																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(4624-4626)acA>acC		G protein-coupled receptor 112							105.0	101.0	102.0					X																	135430491		2203	4300	6503	SO:0001819	synonymous_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135430491A>C	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.4626A>C	X.37:g.135430491A>C						GPR112_ENST00000370652.1_Silent_p.T1542T|GPR112_ENST00000412101.1_Silent_p.T1337T|GPR112_ENST00000394141.1_Silent_p.T1337T|GPR112_ENST00000287534.4_Silent_p.T1479T	p.T1542T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	4917	+	Acute lymphoblastic leukemia(192;0.000127)		1542					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	c.4626A>C	CCDS35409.1																																																																																				0.413	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			5	122	0	0	0	1	0	5	122				
SP140	11262	broad.mit.edu	37	2	231113619	231113619	+	Silent	SNP	T	T	A			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	415c9e9c-96db-43f7-8e67-cc1d6bf5fef2	g.chr2:231113619T>A	ENST00000392045.3	+	9	1026	c.912T>A	c.(910-912)acT>acA	p.T304T	SP140_ENST00000343805.6_Silent_p.T278T|SP140_ENST00000350136.5_Silent_p.T234T|SP140_ENST00000420434.3_Silent_p.T304T|SP140_ENST00000417495.3_Silent_p.T251T|SP140_ENST00000486687.2_Silent_p.T228T	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	304					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ATCTAAAAACTCCCCAAGTCA	0.423																																						ENST00000392045.3																			0				NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						c.(910-912)acT>acA		SP140 nuclear body protein							122.0	108.0	112.0					2																	231113619		1824	4078	5902	SO:0001819	synonymous_variant	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231113619T>A	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.912T>A	2.37:g.231113619T>A						SP140_ENST00000350136.5_Silent_p.T234T|SP140_ENST00000417495.3_Silent_p.T251T|SP140_ENST00000343805.6_Silent_p.T278T|SP140_ENST00000420434.3_Silent_p.T304T|SP140_ENST00000486687.2_Silent_p.T228T	p.T304T	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	9	1026	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	304					E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Silent	SNP	ENST00000392045.3	37	c.912T>A	CCDS42831.1																																																																																				0.423	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		24	27	0	0	0	1	0	24	27				
NCR1	9437	broad.mit.edu	37	19	55423572	55423572	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	415c9e9c-96db-43f7-8e67-cc1d6bf5fef2	g.chr19:55423572C>T	ENST00000291890.4	+	6	757	c.719C>T	c.(718-720)aCg>aTg	p.T240M	NCR1_ENST00000447255.1_Missense_Mutation_p.T239M|NCR1_ENST00000350790.5_Missense_Mutation_p.T145M|NCR1_ENST00000594765.1_Missense_Mutation_p.T239M|NCR1_ENST00000338835.5_Intron|NCR1_ENST00000357397.5_Missense_Mutation_p.T133M|NCR1_ENST00000598576.1_Missense_Mutation_p.T227M	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	240					cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		ACCACAGAGACGGGACTCCAG	0.512																																						ENST00000594765.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18						c.(715-717)aCg>aTg		natural cytotoxicity triggering receptor 1							129.0	121.0	124.0					19																	55423572		2203	4300	6503	SO:0001583	missense	9437				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	g.chr19:55423572C>T	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6731	protein-coding gene	gene with protein product		604530	"""lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"""	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.719C>T	19.37:g.55423572C>T	ENSP00000291890:p.Thr240Met					NCR1_ENST00000357397.5_Missense_Mutation_p.T133M|NCR1_ENST00000447255.1_Missense_Mutation_p.T239M|NCR1_ENST00000338835.5_Intron|NCR1_ENST00000291890.4_Missense_Mutation_p.T240M|NCR1_ENST00000350790.5_Missense_Mutation_p.T145M|NCR1_ENST00000598576.1_Missense_Mutation_p.T227M	p.T239M			O76036	NCTR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0449)	6	741	+			240					B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	ENST00000291890.4	37	c.716C>T	CCDS12911.1	.	.	.	.	.	.	.	.	.	.	C	6.539	0.467713	0.12402	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000350790;ENST00000357397	T;T;T;T	0.00561	6.86;6.89;6.85;6.59	2.54	-0.969	0.10310	.	619.523000	0.00166	N	0.000000	T	0.00468	0.0015	L	0.51914	1.62	0.09310	N	1	P;P;P;P	0.39480	0.675;0.546;0.675;0.546	B;B;B;B	0.21360	0.034;0.026;0.034;0.015	T	0.48007	-0.9072	10	0.59425	D	0.04	.	2.4668	0.04554	0.2339:0.4865:0.0:0.2796	.	133;145;239;240	O76036-5;B0V3L2;O76036-6;O76036	.;.;.;NCTR1_HUMAN	M	240;239;145;133	ENSP00000291890:T240M;ENSP00000404434:T239M;ENSP00000344358:T145M;ENSP00000349972:T133M	ENSP00000291890:T240M	T	+	2	0	NCR1	60115384	0.000000	0.05858	0.000000	0.03702	0.138000	0.21146	-0.221000	0.09202	-0.097000	0.12307	-0.124000	0.14976	ACG		0.512	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1			34	46	0	0	0	1	0	34	46				
PTCHD3	374308	broad.mit.edu	37	10	27687711	27687711	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	415c9e9c-96db-43f7-8e67-cc1d6bf5fef2	g.chr10:27687711C>A	ENST00000438700.3	-	4	1933	c.1816G>T	c.(1816-1818)Gtc>Ttc	p.V606F		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	606					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TATATAAAGACTACAAAATAC	0.378																																						ENST00000438700.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						c.(1816-1818)Gtc>Ttc		patched domain containing 3							65.0	65.0	65.0					10																	27687711		2203	4300	6503	SO:0001583	missense	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27687711C>A	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.1816G>T	10.37:g.27687711C>A	ENSP00000417658:p.Val606Phe						p.V606F	NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN			4	1933	-			606					I3L499|Q6ZU28	Missense_Mutation	SNP	ENST00000438700.3	37	c.1816G>T	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	C	2.635	-0.285376	0.05605	.	.	ENSG00000182077	ENST00000438700	D	0.85339	-1.97	4.19	4.19	0.49359	.	0.487586	0.20899	N	0.083661	D	0.84120	0.5402	L	0.39397	1.21	0.09310	N	1	B	0.21071	0.051	B	0.37091	0.241	T	0.79037	-0.1967	10	0.72032	D	0.01	-23.7507	16.3031	0.82832	0.0:1.0:0.0:0.0	.	606	Q3KNS1	PTHD3_HUMAN	F	606	ENSP00000417658:V606F	ENSP00000417658:V606F	V	-	1	0	PTCHD3	27727717	0.720000	0.27996	0.069000	0.20011	0.054000	0.15201	1.114000	0.31196	2.173000	0.68751	0.484000	0.47621	GTC		0.378	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		19	38	1	0	1.56452e-12	1	1.56452e-12	19	38				
LRRC37A5P	652972	broad.mit.edu	37	9	114371322	114371322	+	RNA	SNP	T	T	A	rs4978450	byFrequency	TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	415c9e9c-96db-43f7-8e67-cc1d6bf5fef2	g.chr9:114371322T>A	ENST00000374304.1	-	0	477							Q49AS3	L37A5_HUMAN	leucine rich repeat containing 37, member A5, pseudogene																		TTTCTGTTCATTCTGGGCTTC	0.483													N|||	1847	0.36881	0.4448	0.5	5008	,	,		24010	0.4494		0.2266	False		,,,				2504	0.2362					ENST00000374304.1																			0																																																			0							g.chr9:114371322T>A	BC031236		9q31.3	2012-10-16	2012-03-07	2012-03-07	ENSG00000204173	ENSG00000204173			23369	pseudogene	pseudogene			"""chromosome 9 open reading frame 29"""	C9orf29			Standard	NR_034087		Approved		uc022bly.1	Q49AS3	OTTHUMG00000020494		9.37:g.114371322T>A														0	477	-								Q5JVP0	RNA	SNP	ENST00000374304.1	37			976	0.4468864468864469	327	0.6646341463414634	182	0.5027624309392266	262	0.458041958041958	205	0.2704485488126649	N	5.495	0.276247	0.10403	.	.	ENSG00000204173	ENST00000374306;ENST00000536054;ENST00000374304;ENST00000374302	.	.	.	0.957	0.957	0.19613	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.39440	-0.9614	4	0.87932	D	0	.	3.6859	0.08328	0.0:0.7303:0.0:0.2697	rs4978450;rs58397692	.	.	.	L	96;88;22;22	.	ENSP00000363420:M22L	M	-	1	0	C9orf29	113411143	0.323000	0.24643	0.355000	0.25773	0.022000	0.10575	-1.070000	0.03440	0.007000	0.14760	-0.997000	0.02515	ATG		0.483	LRRC37A5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000053655.2	NR_034087		3	33	0	0	0	1	0	3	33				
LOC101927533	101927533	broad.mit.edu	37	2	65738863	65738863	+	lincRNA	DEL	G	G	-	rs373784983|rs377731020		TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr2:65738863delG	ENST00000377977.3	+	0	862																											TTTTTTTTTTGTCCAGGAGGC	0.303																																						ENST00000377977.3																			0																																																			0							g.chr2:65738863delG																													2.37:g.65738863delG														0	862	+									RNA	DEL	ENST00000377977.3	37																																																																																						0.303	AC074391.1-010	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470883.1			2	4						2	4	---	---	---	---
ANKRD17	26057	broad.mit.edu	37	4	74124072	74124083	+	In_Frame_Del	DEL	CCGCCTCCACCG	CCGCCTCCACCG	-			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr4:74124072_74124083delCCGCCTCCACCG	ENST00000358602.4	-	1	419_430	c.303_314delCGGTGGAGGCGG	c.(301-315)ggcggtggaggcgga>gga	p.101_105GGGGG>G	ANKRD17_ENST00000330838.6_In_Frame_Del_p.101_105GGGGG>G|RP11-692D12.1_ENST00000502790.1_RNA	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	101	Gly-rich.				blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			gccgccacctccgcctccaccgccgcctccac	0.651																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(301-315)gga>gg		ankyrin repeat domain 17			,	57,4193		9,39,2077					,	-2.3	0.0			47	135,8087		31,73,4007	no	coding,coding	ANKRD17	NM_198889.1,NM_032217.3	,	40,112,6084	A1A1,A1R,RR		1.6419,1.3412,1.5394	,	,		192,12280				SO:0001651	inframe_deletion	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:74124072_74124083delCCGCCTCCACCG	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.303_314delCGGTGGAGGCGG	4.37:g.74124072_74124083delCCGCCTCCACCG	ENSP00000351416:p.Gly105_Gly108del					ANKRD17_ENST00000330838.6_In_Frame_Del_p.GGGGG106del	p.GGGGG106del	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		1	419_430	-	Breast(15;0.000295)		106			Gly-rich.		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	In_Frame_Del	DEL	ENST00000358602.4	37	c.303_314delCGGTGGAGGCGG	CCDS34004.1																																																																																				0.651	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		14	59						14	59	---	---	---	---
MCC	4163	broad.mit.edu	37	5	112824048	112824049	+	In_Frame_Ins	INS	-	-	GCC	rs35336557|rs531679771|rs370593160	byFrequency	TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr5:112824048_112824049insGCC	ENST00000408903.3	-	1	478_479	c.63_64insGGC	c.(61-66)ggcagc>ggcGGCagc	p.21_22insG		NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ctgctgccgctgccgccgccgc	0.738														1663	0.332069	0.0227	0.3487	5008	,	,		8489	0.5208		0.3668	False		,,,				2504	0.5082					ENST00000408903.3																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(61-66)gggcgg>ggGGCgcgg		mutated in colorectal cancers																																				SO:0001652	inframe_insertion	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112824048_112824049insGCC		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000408903.3:c.61_63dupGGC	5.37:g.112824055_112824057dupGCC	ENSP00000386227:p.Gly22_Gly23dup						p.21_22GR>GAR	NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	1	478_479	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	549					D3DT05|Q6ZR04	In_Frame_Ins	INS	ENST00000408903.3	37	c.63_64insGGC	CCDS43351.1																																																																																				0.738	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370839.1	NM_001085377		7	6						7	6	---	---	---	---
ATXN1	6310	broad.mit.edu	37	6	16327913	16327915	+	In_Frame_Del	DEL	TGA	TGA	-	rs11969612|rs369629396	byFrequency	TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr6:16327913_16327915delTGA	ENST00000244769.4	-	8	1563_1565	c.627_629delTCA	c.(625-630)catcag>cag	p.H209del	ATXN1_ENST00000436367.1_In_Frame_Del_p.H209del	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	209	Poly-Gln.		H -> Q (in dbSNP:rs11969612).		adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)	p.H209delH(2)|p.H209_H211delHQH(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				ctgctgatgctgatgctgctgct	0.665																																						ENST00000244769.4																			3	Deletion - In frame(3)	p.H209delH(2)|p.H209_H211delHQH(1)	upper_aerodigestive_tract(1)|large_intestine(1)|prostate(1)	NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44						c.(625-630)cag>ca		ataxin 1			,|,	615,313,2022|637,2259		169,39,238,43,188,798|112,413,923					,|,		0.0|0.0		dbSNP_130	7|7	1006,693,4879|752,5866		252,19,483,15,644,1876|24,704,2581	no|no	codingComplex,codingComplex|coding,coding	ATXN1|ATXN1	NM_001128164.1,NM_000332.3|NM_001128164.1,NM_000332.3	,|,	421,58,721,58,832,2674|136,1117,3504	A1A1,A1A2,A1R,A2A2,A2R,RR|A1A1,A1R,RR		25.8285,31.4576,27.5714|11.3629,21.9959,14.5995	,|,	,|,		1621,1006,6901|1389,8125				SO:0001651	inframe_deletion	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16327913_16327915delTGA	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.627_629delTCA	6.37:g.16327913_16327915delTGA	ENSP00000244769:p.His209del					ATXN1_ENST00000436367.1_In_Frame_Del_p.HQ211del	p.HQ211del	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN			8	1563_1565	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	211	H -> HQ (in Ref. 1; CAA55793).		Poly-Gln.		Q17S02|Q9UJG2|Q9Y4J1	In_Frame_Del	DEL	ENST00000244769.4	37	c.627_629delTCA	CCDS34342.1																																																																																				0.665	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		3	6						3	6	---	---	---	---
SVOPL	136306	broad.mit.edu	37	7	138305790	138305790	+	Splice_Site	DEL	C	C	-			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr7:138305790delC	ENST00000419765.3	-	13	1387		c.e13+1		SVOPL_ENST00000288513.5_Splice_Site|SVOPL_ENST00000436657.1_Splice_Site|SVOPL_ENST00000463557.1_Intron|SVOPL_ENST00000421622.1_Splice_Site	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like							integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CTTGGCTGTACCTGGGATATA	0.567																																						ENST00000421622.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						c.e10+1		SVOP-like							57.0	50.0	52.0					7																	138305790		2203	4300	6503	SO:0001630	splice_region_variant	136306					integral to membrane	transmembrane transporter activity	g.chr7:138305790delC	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"""SV2 related protein homolog (rat)-like"""				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.1353+1G>-	7.37:g.138305790delC						SVOPL_ENST00000288513.5_Splice_Site|SVOPL_ENST00000463557.1_Intron|SVOPL_ENST00000419765.3_Splice_Site|SVOPL_ENST00000436657.1_Splice_Site				Q8N434	SVOPL_HUMAN			10	1202	-									Splice_Site	DEL	ENST00000419765.3	37		CCDS47721.1																																																																																				0.567	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	NM_174959	Intron	8	15						8	15	---	---	---	---
POLG	5428	broad.mit.edu	37	15	89876827	89876828	+	In_Frame_Ins	INS	-	-	TGC	rs527965158|rs369920352|rs41550117|rs587781118|rs59510277	byFrequency	TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr15:89876827_89876828insTGC	ENST00000268124.5	-	2	491_492	c.158_159insGCA	c.(157-159)caa>caGCAa	p.53_53Q>QQ	POLG_ENST00000442287.2_In_Frame_Ins_p.53_53Q>QQ|RP11-217B1.2_ENST00000562356.1_RNA|POLG_ENST00000525806.1_5'Flank|RP11-217B1.2_ENST00000569473.1_RNA	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	53	Poly-Gln.				aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			gaggctgctgttgctgctgctg	0.693								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33						c.(157-159)cca>cGCAca	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma																																				SO:0001652	inframe_insertion	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89876827_89876828insTGC	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.156_158dupGCA	15.37:g.89876834_89876836dupTGC	ENSP00000268124:p.Gln55dup					POLG_ENST00000442287.2_In_Frame_Ins_p.53_53P>RT	p.53_53P>RT	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		2	491_492	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		53			Poly-Gln.		Q8NFM2|Q92515	In_Frame_Ins	INS	ENST00000268124.5	37	c.158_159insGCA	CCDS10350.1																																																																																				0.693	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		5	9						5	9	---	---	---	---
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs398100042|rs2981599		TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr16:3119304_3119305insG	ENST00000534507.1	+	6	864_865	c.653_654insG	c.(652-657)gacaagfs	p.DK218fs	IL32_ENST00000552664.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.DK162fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.DK196fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000525643.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.DK152fs|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000008180.9_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.DK209fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.DK132fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.DK115fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574																																						ENST00000525643.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						c.(514-516)gaafs		interleukin 32																																				SO:0001589	frameshift_variant	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3119304_3119305insG	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	Exception_encountered	16.37:g.3119304_3119305insG	ENSP00000431775:p.Asp218fs					IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs	p.E172fs			P24001	IL32_HUMAN			7	847_848	+			218					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Frame_Shift_Ins	INS	ENST00000534507.1	37	c.515_516insG																																																																																					0.574	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		10	177						10	177	---	---	---	---
LOC101927533	101927533	broad.mit.edu	37	2	65738863	65738863	+	lincRNA	DEL	G	G	-	rs373784983|rs377731020		TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	415c9e9c-96db-43f7-8e67-cc1d6bf5fef2	g.chr2:65738863delG	ENST00000377977.3	+	0	862																											TTTTTTTTTTGTCCAGGAGGC	0.303																																						ENST00000377977.3																			0																																																			0							g.chr2:65738863delG																													2.37:g.65738863delG														0	862	+									RNA	DEL	ENST00000377977.3	37																																																																																						0.303	AC074391.1-010	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470883.1			2	4						2	4	---	---	---	---
ERICH6	131831	broad.mit.edu	37	3	150421899	150421900	+	5'Flank	INS	-	-	C	rs34009900|rs375533661|rs112656172	byFrequency	TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	415c9e9c-96db-43f7-8e67-cc1d6bf5fef2	g.chr3:150421899_150421900insC	ENST00000295910.6	-	0	0				FAM194A_ENST00000491361.1_5'Flank|RP11-103G8.2_ENST00000475393.1_RNA|RP11-103G8.2_ENST00000471093.1_RNA	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTCTGTCCCTGCTCTTCAGCGT	0.545													C|C|CC|insertion	576	0.115016	0.0121	0.2291	5008	,	,		12181	0.003		0.3181	False		,,,				2504	0.0798					ENST00000475393.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr3:150421899_150421900insC																													3.37:g.150421900_150421900dupC	Exception_encountered					RP11-103G8.2_ENST00000471093.1_RNA								0	20	+									RNA	INS	ENST00000295910.6	37		CCDS3151.2																																																																																				0.545	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			4	2						4	2	---	---	---	---
MCC	4163	broad.mit.edu	37	5	112824048	112824049	+	In_Frame_Ins	INS	-	-	GCC	rs35336557|rs531679771|rs370593160	byFrequency	TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	415c9e9c-96db-43f7-8e67-cc1d6bf5fef2	g.chr5:112824048_112824049insGCC	ENST00000408903.3	-	1	478_479	c.63_64insGGC	c.(61-66)ggcagc>ggcGGCagc	p.21_22insG		NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ctgctgccgctgccgccgccgc	0.738														1663	0.332069	0.0227	0.3487	5008	,	,		8489	0.5208		0.3668	False		,,,				2504	0.5082					ENST00000408903.3																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(61-66)gggcgg>ggGGCgcgg		mutated in colorectal cancers																																				SO:0001652	inframe_insertion	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112824048_112824049insGCC		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000408903.3:c.61_63dupGGC	5.37:g.112824055_112824057dupGCC	ENSP00000386227:p.Gly22_Gly23dup						p.21_22GR>GAR	NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	1	478_479	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	549					D3DT05|Q6ZR04	In_Frame_Ins	INS	ENST00000408903.3	37	c.63_64insGGC	CCDS43351.1																																																																																				0.738	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370839.1	NM_001085377		7	6						7	6	---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157100396	157100397	+	In_Frame_Ins	INS	-	-	CGC	rs572236007	byFrequency	TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	415c9e9c-96db-43f7-8e67-cc1d6bf5fef2	g.chr6:157100396_157100397insCGC	ENST00000350026.5	+	1	1334_1335	c.1333_1334insCGC	c.(1333-1335)gcg>gCGCcg	p.450_451insP	RP11-230C9.3_ENST00000604792.1_RNA|RP11-230C9.2_ENST00000603191.1_lincRNA|MIR4466_ENST00000606121.1_RNA|ARID1B_ENST00000275248.4_In_Frame_Ins_p.392_393insP|ARID1B_ENST00000367148.1_In_Frame_Ins_p.450_451insP|ARID1B_ENST00000346085.5_In_Frame_Ins_p.450_451insP	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	450	Ala-rich.		P -> PP. {ECO:0000269|PubMed:22405089}.		chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.P392_S393insP(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAGCCCCAGCGCGCCGCCGCCG	0.787														126	0.0251597	0.0068	0.0519	5008	,	,		3321	0.0		0.0676	False		,,,				2504	0.0133					ENST00000346085.5																			1	Insertion - In frame(1)	p.P392_S393insP(1)	prostate(1)	NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(1333-1335)gcc>CGCgcc		AT rich interactive domain 1B (SWI1-like)			,	13,1303		3,7,648					,	2.2	1.0			4	150,3080		29,92,1494	no	coding,coding	ARID1B	NM_020732.3,NM_017519.2	,	32,99,2142	A1A1,A1R,RR		4.644,0.9878,3.5856	,	,		163,4383				SO:0001652	inframe_insertion	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157100396_157100397insCGC	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.1346_1348dupCGC	6.37:g.157100403_157100405dupCGC	ENSP00000055163:p.Pro450_Pro450dup					ARID1B_ENST00000367148.1_In_Frame_Ins_p.444_445insR|ARID1B_ENST00000350026.5_In_Frame_Ins_p.444_445insR|ARID1B_ENST00000275248.4_In_Frame_Ins_p.386_387insR	p.444_445insR	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	1	1334_1335	+		Breast(66;0.000162)|Ovarian(120;0.0265)	444			Ala-rich.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	In_Frame_Ins	INS	ENST00000350026.5	37	c.1333_1334insCGC	CCDS5251.2																																																																																				0.787	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		5	4						5	4	---	---	---	---
SVOPL	136306	broad.mit.edu	37	7	138305790	138305790	+	Splice_Site	DEL	C	C	-			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	415c9e9c-96db-43f7-8e67-cc1d6bf5fef2	g.chr7:138305790delC	ENST00000419765.3	-	13	1387		c.e13+1		SVOPL_ENST00000288513.5_Splice_Site|SVOPL_ENST00000436657.1_Splice_Site|SVOPL_ENST00000463557.1_Intron|SVOPL_ENST00000421622.1_Splice_Site	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like							integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CTTGGCTGTACCTGGGATATA	0.567																																						ENST00000421622.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						c.e10+1		SVOP-like							57.0	50.0	52.0					7																	138305790		2203	4300	6503	SO:0001630	splice_region_variant	136306					integral to membrane	transmembrane transporter activity	g.chr7:138305790delC	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"""SV2 related protein homolog (rat)-like"""				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.1353+1G>-	7.37:g.138305790delC						SVOPL_ENST00000288513.5_Splice_Site|SVOPL_ENST00000463557.1_Intron|SVOPL_ENST00000436657.1_Splice_Site|SVOPL_ENST00000419765.3_Splice_Site				Q8N434	SVOPL_HUMAN			10	1202	-									Splice_Site	DEL	ENST00000419765.3	37		CCDS47721.1																																																																																				0.567	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	NM_174959	Intron	8	15						8	15	---	---	---	---
SRP14	6727	broad.mit.edu	37	15	40328596	40328597	+	In_Frame_Ins	INS	-	-	TGCTGC	rs550938068|rs556326548|rs377432895|rs371085676	byFrequency	TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	415c9e9c-96db-43f7-8e67-cc1d6bf5fef2	g.chr15:40328596_40328597insTGCTGC	ENST00000267884.6	-	5	419_420	c.348_349insGCAGCA	c.(346-351)gcacct>gcaGCAGCAcct	p.115_116insAA	SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000558720.1_In_Frame_Ins_p.35_36insAA|SRP14-AS1_ENST00000504245.1_lincRNA|SRP14_ENST00000560773.1_In_Frame_Ins_p.35_36insAA	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	115	Ala/Thr-rich.				cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		gctgcggcaggtgctgctgctg	0.48																																						ENST00000267884.6																			0				endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(346-351)gcctgc>gcGCAGCActgc		signal recognition particle 14kDa (homologous Alu RNA binding protein)																																				SO:0001652	inframe_insertion	6727				negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding	g.chr15:40328596_40328597insTGCTGC		CCDS42017.1	15q22	2008-08-15	2002-08-29		ENSG00000140319	ENSG00000140319			11299	protein-coding gene	gene with protein product		600708	"""signal recognition particle 14kD (homologous Alu RNA-binding protein)"""			8196634	Standard	NM_003134		Approved	ALURBP, MGC14326	uc001zkq.2	P37108		ENST00000267884.6:c.343_348dupGCAGCA	15.37:g.40328597_40328602dupTGCTGC	ENSP00000267884:p.Ala114_Ala115dup					SRP14_ENST00000560773.1_In_Frame_Ins_p.36_37AC>AQHC|SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000558720.1_In_Frame_Ins_p.36_37AC>AQHC	p.116_117AC>AQHC	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)	5	419_420	-		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	116			Ala/Thr-rich.		B5BUF5|Q6B0K5|Q96Q14	In_Frame_Ins	INS	ENST00000267884.6	37	c.348_349insGCAGCA	CCDS42017.1																																																																																				0.480	SRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418262.2	NM_003134		12	68						12	68	---	---	---	---
POLG	5428	broad.mit.edu	37	15	89876827	89876828	+	In_Frame_Ins	INS	-	-	TGC	rs527965158|rs369920352|rs41550117|rs587781118|rs59510277	byFrequency	TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	415c9e9c-96db-43f7-8e67-cc1d6bf5fef2	g.chr15:89876827_89876828insTGC	ENST00000268124.5	-	2	491_492	c.158_159insGCA	c.(157-159)caa>caGCAa	p.53_53Q>QQ	POLG_ENST00000442287.2_In_Frame_Ins_p.53_53Q>QQ|RP11-217B1.2_ENST00000562356.1_RNA|POLG_ENST00000525806.1_5'Flank|RP11-217B1.2_ENST00000569473.1_RNA	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	53	Poly-Gln.				aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			gaggctgctgttgctgctgctg	0.693								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33						c.(157-159)cca>cGCAca	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma																																				SO:0001652	inframe_insertion	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89876827_89876828insTGC	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.156_158dupGCA	15.37:g.89876834_89876836dupTGC	ENSP00000268124:p.Gln55dup					POLG_ENST00000442287.2_In_Frame_Ins_p.53_53P>RT	p.53_53P>RT	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		2	491_492	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		53			Poly-Gln.		Q8NFM2|Q92515	In_Frame_Ins	INS	ENST00000268124.5	37	c.158_159insGCA	CCDS10350.1																																																																																				0.693	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		5	9						5	9	---	---	---	---
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs398100042|rs2981599		TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	415c9e9c-96db-43f7-8e67-cc1d6bf5fef2	g.chr16:3119304_3119305insG	ENST00000534507.1	+	6	864_865	c.653_654insG	c.(652-657)gacaagfs	p.DK218fs	IL32_ENST00000552664.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.DK162fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.DK196fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000525643.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.DK152fs|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000008180.9_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.DK209fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.DK132fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.DK115fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574																																						ENST00000525643.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						c.(514-516)gaafs		interleukin 32																																				SO:0001589	frameshift_variant	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3119304_3119305insG	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	Exception_encountered	16.37:g.3119304_3119305insG	ENSP00000431775:p.Asp218fs					IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs	p.E172fs			P24001	IL32_HUMAN			7	847_848	+			218					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Frame_Shift_Ins	INS	ENST00000534507.1	37	c.515_516insG																																																																																					0.574	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		10	177						10	177	---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7646597	7646597	+	Intron	DEL	T	T	-	rs564117935		TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	415c9e9c-96db-43f7-8e67-cc1d6bf5fef2	g.chr17:7646597delT	ENST00000572933.1	+	12	3364				DNAH2_ENST00000389173.2_Intron|DNAH2_ENST00000570791.1_Frame_Shift_Del_p.F765fs|DNAH2_ENST00000082259.3_Frame_Shift_Del_p.F765fs			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2						cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GTCATTTTACTTTTTTTTTTC	0.338																																						ENST00000570791.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(2287-2289)ttfs		dynein, axonemal, heavy chain 2																																				SO:0001627	intron_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7646597delT	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1904+137T>-	17.37:g.7646597delT						DNAH2_ENST00000389173.2_Intron|DNAH2_ENST00000082259.3_Frame_Shift_Del_p.F765fs|DNAH2_ENST00000572933.1_Intron	p.F765fs			Q9P225	DYH2_HUMAN			14	2372	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	0			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Frame_Shift_Del	DEL	ENST00000572933.1	37	c.2287delT	CCDS32551.1																																																																																				0.338	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		2	4						2	4	---	---	---	---
