#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
MBD6	114785	broad.mit.edu	37	12	57921648	57921648	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr12:57921648A>G	ENST00000355673.3	+	9	2610	c.2254A>G	c.(2254-2256)Acc>Gcc	p.T752A	MBD6_ENST00000431731.2_Missense_Mutation_p.T752A	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	752	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						GTCTTCACTGACCAGCAGCCC	0.577																																						uc001soj.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						c.(2254-2256)Acc>Gcc		Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.							102.0	111.0	108.0					12																	57921648		2202	4299	6501	SO:0001583	missense	114785					chromosome|nucleus	DNA binding|chromatin binding	g.chr12:57921648A>G	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.2254A>G	12.37:g.57921648A>G	ENSP00000347896:p.Thr752Ala					MBD6_uc001sok.1_Missense_Mutation_p.T619A|MBD6_uc001sol.1_Non-coding_Transcript	p.T752A	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN			8	2478	+			752			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	ENST00000355673.3	37	c.2254A>G	CCDS8944.1	.	.	.	.	.	.	.	.	.	.	A	10.26	1.301780	0.23736	.	.	ENSG00000166987	ENST00000355673;ENST00000431731;ENST00000300263	.	.	.	4.94	3.75	0.43078	.	0.538304	0.15939	N	0.237289	T	0.21468	0.0517	N	0.08118	0	0.26943	N	0.966194	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.16394	-1.0404	9	0.23302	T	0.38	-2.8222	8.9734	0.35921	0.9124:0.0:0.0876:0.0	.	752;752	Q6P0P0;Q96DN6	.;MBD6_HUMAN	A	752;752;216	.	ENSP00000300263:T216A	T	+	1	0	MBD6	56207915	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.818000	0.48041	0.968000	0.38212	0.459000	0.35465	ACC		0.577	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			3	238	0	0	0	1	0	3	238				
DIAPH1	1729	broad.mit.edu	37	5	140908072	140908072	+	Silent	SNP	G	G	C	rs369299884		TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr5:140908072G>C	ENST00000398557.4	-	23	3236	c.3096C>G	c.(3094-3096)ccC>ccG	p.P1032P	DIAPH1_ENST00000494967.1_5'Flank|DIAPH1_ENST00000253811.6_Silent_p.P1033P|DIAPH1_ENST00000398566.3_Silent_p.P1024P|DIAPH1_ENST00000389054.3_Silent_p.P1029P|DIAPH1_ENST00000398562.2_Silent_p.P1008P|DIAPH1_ENST00000389057.5_Silent_p.P1023P|DIAPH1_ENST00000518047.1_Silent_p.P1020P|DIAPH1_ENST00000520569.1_Silent_p.P975P	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	1032	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGGACATCGGGATAGTCAT	0.498																																						uc003llb.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23						c.(3094-3096)ccC>ccG		Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA.							98.0	92.0	94.0					5																	140908072		1958	4167	6125	SO:0001819	synonymous_variant	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	Rho GTPase binding|actin binding|receptor binding	g.chr5:140908072G>C	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.3096C>G	5.37:g.140908072G>C						DIAPH1_uc011dbd.2_5'Flank|DIAPH1_uc003llc.4_Silent_p.P1023P|DIAPH1_uc021yep.1_Silent_p.P1032P|DIAPH1_uc021yeq.1_Silent_p.P1023P|DIAPH1_uc010jgc.1_Silent_p.P468P	p.P1032P	NM_005219	NP_005210	O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		22	3237	-			1032			FH2.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Silent	SNP	ENST00000398557.4	37	c.3096C>G	CCDS43374.1																																																																																				0.498	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		30	41	0	0	0	1	0	30	41				
ABCA5	23461	broad.mit.edu	37	17	67287453	67287453	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr17:67287453T>C	ENST00000392676.3	-	12	1574	c.1510A>G	c.(1510-1512)Ata>Gta	p.I504V	ABCA5_ENST00000392677.2_Missense_Mutation_p.I504V|ABCA5_ENST00000588877.1_Missense_Mutation_p.I504V			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	504	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	CCCTCATATATGTCAAATGAC	0.363																																						uc002jif.2																			0		p.D503Y(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.(1510-1512)Ata>Gta		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.							80.0	76.0	78.0					17																	67287453		2203	4300	6503	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67287453T>C	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.1510A>G	17.37:g.67287453T>C	ENSP00000376443:p.Ile504Val					ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Missense_Mutation_p.I504V|ABCA5_uc002jih.2_Missense_Mutation_p.I504V|ABCA5_uc010dfe.2_Missense_Mutation_p.I504V	p.I504V	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN			10	2728	-	Breast(10;3.72e-11)		504			ABC transporter 1.		Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.1510A>G	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.184989	0.57909	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.93604	-3.25;-3.25	5.56	5.56	0.83823	ABC transporter-like (1);	0.083145	0.50627	D	0.000104	D	0.86075	0.5846	N	0.12853	0.265	0.58432	D	0.999999	P;P	0.40794	0.729;0.657	B;B	0.37731	0.254;0.257	D	0.85839	0.1396	9	.	.	.	.	15.3665	0.74526	0.0:0.0:0.0:1.0	.	504;504	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	V	504	ENSP00000376444:I504V;ENSP00000376443:I504V	.	I	-	1	0	ABCA5	64799048	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	7.338000	0.79269	2.101000	0.63845	0.482000	0.46254	ATA		0.363	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		9	38	0	0	0	1	0	9	38				
MYO10	4651	broad.mit.edu	37	5	16769308	16769308	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr5:16769308G>A	ENST00000513610.1	-	10	1389	c.935C>T	c.(934-936)gCa>gTa	p.A312V		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	312	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CACGTCCATTGCCGTCTAGAA	0.373																																						uc003jft.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(934-936)gCa>gTa		Homo sapiens myosin X (MYO10), mRNA.							77.0	70.0	72.0					5																	16769308		1885	4110	5995	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity	g.chr5:16769308G>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.935C>T	5.37:g.16769308G>A	ENSP00000421280:p.Ala312Val						p.A312V	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN			9	1403	-			312			Myosin head-like.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.935C>T	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018814	0.75275	.	.	ENSG00000145555	ENST00000513610;ENST00000513882	D;D	0.81821	-1.54;-1.54	5.71	5.71	0.89125	Myosin head, motor domain (2);	.	.	.	.	D	0.93726	0.7995	H	0.97265	3.97	0.80722	D	1	D	0.67145	0.996	D	0.68353	0.957	D	0.95431	0.8516	9	0.87932	D	0	.	19.8557	0.96758	0.0:0.0:1.0:0.0	.	312	Q9HD67	MYO10_HUMAN	V	312;323	ENSP00000421280:A312V;ENSP00000421309:A323V	ENSP00000421280:A312V	A	-	2	0	MYO10	16822308	1.000000	0.71417	0.834000	0.33040	0.071000	0.16799	9.696000	0.98695	2.694000	0.91930	0.585000	0.79938	GCA		0.373	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		14	8	0	0	0	1	0	14	8				
MED23	9439	broad.mit.edu	37	6	131926420	131926420	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr6:131926420T>C	ENST00000368068.3	-	14	1752	c.1573A>G	c.(1573-1575)Atg>Gtg	p.M525V	MED23_ENST00000403834.3_Missense_Mutation_p.M531V|MED23_ENST00000368053.4_Missense_Mutation_p.M531V|MED23_ENST00000368060.3_Missense_Mutation_p.M525V|MED23_ENST00000540546.1_Missense_Mutation_p.M531V|MED23_ENST00000354577.4_Missense_Mutation_p.M531V|MED23_ENST00000545957.1_Missense_Mutation_p.M166V|MED23_ENST00000539158.1_Intron|MED23_ENST00000368058.1_Missense_Mutation_p.M531V	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	525					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		AGGAGGTTCATAGGTAAGGGG	0.393																																						uc003qcs.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44						c.(1573-1575)Atg>Gtg		Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.							95.0	92.0	93.0					6																	131926420		2203	4300	6503	SO:0001583	missense	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131926420T>C	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.1573A>G	6.37:g.131926420T>C	ENSP00000357047:p.Met525Val					MED23_uc003qcq.3_Missense_Mutation_p.M531V|MED23_uc011eca.1_Missense_Mutation_p.M166V|MED23_uc003qct.1_Missense_Mutation_p.M531V|MED23_uc011ecb.1_Intron	p.M525V	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	13	1747	-	Breast(56;0.0753)		525					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	ENST00000368068.3	37	c.1573A>G	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	T	13.18	2.159918	0.38119	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957;ENST00000368053;ENST00000540546	T;T;T;T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.56262	0.1973	L	0.31752	0.955	0.80722	D	1	P;B;P;P	0.40398	0.716;0.452;0.536;0.48	B;P;B;B	0.44623	0.268;0.455;0.206;0.13	T	0.58358	-0.7650	10	0.14656	T	0.56	-14.0275	16.2567	0.82522	0.0:0.0:0.0:1.0	.	166;531;525;531	B4E3G4;Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;.;MED23_HUMAN;.	V	531;525;531;525;531;166;531;531	ENSP00000346588:M531V;ENSP00000357047:M525V;ENSP00000384536:M531V;ENSP00000357039:M525V;ENSP00000357037:M531V;ENSP00000439977:M166V;ENSP00000357032:M531V;ENSP00000437818:M531V	ENSP00000346588:M531V	M	-	1	0	MED23	131968113	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	8.040000	0.89188	2.242000	0.73789	0.482000	0.46254	ATG		0.393	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			3	85	0	0	0	1	0	3	85				
WDR5B	54554	broad.mit.edu	37	3	122134317	122134317	+	Missense_Mutation	SNP	T	T	G	rs144433176	byFrequency	TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr3:122134317T>G	ENST00000330689.4	-	1	565	c.59A>C	c.(58-60)aAt>aCt	p.N20T	RP11-299J3.8_ENST00000608346.1_RNA|RP11-299J3.8_ENST00000608756.1_RNA|RP11-299J3.8_ENST00000608015.1_RNA|RP11-299J3.8_ENST00000609469.1_RNA|RP11-299J3.8_ENST00000608465.1_RNA	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	20										kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		CTTGCTCTGATTGGCCGATGA	0.498																																						uc003efa.1																			0		p.A19V(1)		kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13						c.(58-60)aAt>aCt		Homo sapiens WD repeat domain 5B (WDR5B), mRNA.							138.0	135.0	136.0					3																	122134317		2203	4300	6503	SO:0001583	missense	54554							g.chr3:122134317T>G	AK002149	CCDS3012.1	3q21.1	2013-01-09			ENSG00000196981	ENSG00000196981		"""WD repeat domain containing"""	17826	protein-coding gene	gene with protein product						10369878	Standard	NM_019069		Approved	FLJ11287	uc003efa.1	Q86VZ2	OTTHUMG00000159489	ENST00000330689.4:c.59A>C	3.37:g.122134317T>G	ENSP00000330381:p.Asn20Thr						p.N20T	NM_019069	NP_061942	Q86VZ2	WDR5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0704)	0	566	-			20					B2RCM9|Q9NUL4	Missense_Mutation	SNP	ENST00000330689.4	37	c.59A>C	CCDS3012.1	.	.	.	.	.	.	.	.	.	.	T	3.257	-0.152010	0.06585	.	.	ENSG00000196981	ENST00000330689	T	0.50277	0.75	4.78	-8.68	0.00859	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.594001	0.20340	N	0.094254	T	0.17408	0.0418	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.03717	-1.1010	10	0.59425	D	0.04	.	5.0054	0.14286	0.0923:0.2653:0.0957:0.5467	.	20	Q86VZ2	WDR5B_HUMAN	T	20	ENSP00000330381:N20T	ENSP00000330381:N20T	N	-	2	0	WDR5B	123617007	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-1.894000	0.01607	-1.564000	0.01678	-1.366000	0.01203	AAT		0.498	WDR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355753.1	NM_019069		76	103	0	0	0	1	0	76	103				
PLB1	151056	broad.mit.edu	37	2	28808648	28808648	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr2:28808648T>C	ENST00000327757.5	+	26	1798	c.1754T>C	c.(1753-1755)cTg>cCg	p.L585P	PLB1_ENST00000329020.6_Missense_Mutation_p.L273P|PLB1_ENST00000422425.2_Missense_Mutation_p.L574P	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	585	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CCCTGTGTCCTGAAGTTTGAT	0.468																																						uc002rmb.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69						c.(1753-1755)cTg>cCg		Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.							266.0	211.0	230.0					2																	28808648		2203	4300	6503	SO:0001583	missense	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28808648T>C		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.1754T>C	2.37:g.28808648T>C	ENSP00000330442:p.Leu585Pro					PLB1_uc010ezj.2_Missense_Mutation_p.L574P|PLB1_uc002rmc.3_Missense_Mutation_p.L273P|PLB1_uc002rmd.1_Missense_Mutation_p.L95P	p.L585P	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN			25	1798	+	Acute lymphoblastic leukemia(172;0.155)		585			4 X 308-326 AA approximate repeats.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	c.1754T>C	CCDS33168.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.2|26.2	4.715163|4.715163	0.89112|0.89112	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000327757;ENST00000422425;ENST00000436544;ENST00000329020|ENST00000404858	T;T;T;T|.	0.14766|.	2.48;2.48;2.48;2.48|.	5.79|5.79	4.65|4.65	0.58169|0.58169	Esterase, SGNH hydrolase-type (1);Lipase, GDSL (1);|.	0.446678|.	0.21869|.	N|.	0.067919|.	T|.	0.77968|.	0.4210|.	M|M	0.90483|0.90483	3.12|3.12	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D|.	0.89917|.	0.963;1.0;1.0;0.994|.	P;D;D;D|.	0.79108|.	0.839;0.992;0.99;0.968|.	T|.	0.79907|.	-0.1605|.	10|.	0.42905|.	T|.	0.14|.	-5.4543|-5.4543	9.4492|9.4492	0.38717|0.38717	0.0:0.0812:0.0:0.9188|0.0:0.0812:0.0:0.9188	.|.	574;585;273;585|.	Q6P1J6-3;Q6P1J6-4;Q6P1J6-2;Q6P1J6|.	.;.;.;PLB1_HUMAN|.	P|R	585;574;295;273|573	ENSP00000330442:L585P;ENSP00000416440:L574P;ENSP00000392493:L295P;ENSP00000330729:L273P|.	ENSP00000330442:L585P|.	L|X	+|+	2|1	0|0	PLB1|PLB1	28662152|28662152	0.143000|0.143000	0.22626|0.22626	0.166000|0.166000	0.22797|0.22797	0.996000|0.996000	0.88848|0.88848	3.343000|3.343000	0.52167|0.52167	1.038000|1.038000	0.40049|0.40049	0.459000|0.459000	0.35465|0.35465	CTG|TGA		0.468	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			3	99	0	0	0	1	0	3	99				
DACH1	1602	broad.mit.edu	37	13	72204797	72204797	+	Silent	SNP	A	A	G			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr13:72204797A>G	ENST00000359684.2	-	3	1022	c.1023T>C	c.(1021-1023)gcT>gcC	p.A341A	DACH1_ENST00000313174.7_Silent_p.A341A|DACH1_ENST00000305425.4_Silent_p.A341A|DACH1_ENST00000354591.4_Intron			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	341	Interaction with SIX6 and HDAC3. {ECO:0000250}.				cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TCATTGCTTcagcaatagctg	0.393																																						uc021rkj.1																			0		p.A341V(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1021-1023)gcT>gcC		Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.							140.0	127.0	131.0					13																	72204797		1830	4080	5910	SO:0001819	synonymous_variant	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72204797A>G	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1023T>C	13.37:g.72204797A>G						DACH1_uc021rkk.1_Silent_p.A341A|DACH1_uc021rkl.1_Intron	p.A341A	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	2	1446	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	339			Interaction with SIX6 and HDAC3 (By similarity).		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Silent	SNP	ENST00000359684.2	37	c.1023T>C																																																																																					0.393	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		3	208	0	0	0	1	0	3	208				
CASP4	837	broad.mit.edu	37	11	104825694	104825694	+	Silent	SNP	C	C	T			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr11:104825694C>T	ENST00000444739.2	-	2	952	c.42G>A	c.(40-42)ttG>ttA	p.L14L	CASP4_ENST00000531333.1_5'UTR|CASP4_ENST00000393150.3_5'UTR	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	14	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		CCAGGGATTCCAACACCTTAA	0.388																																						uc001pid.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23						c.(40-42)ttG>ttA		Homo sapiens caspase 4, apoptosis-related cysteine peptidase (CASP4), transcript variant alpha, mRNA.							94.0	89.0	91.0					11																	104825694		2202	4299	6501	SO:0001819	synonymous_variant	837				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104825694C>T	U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"""Caspases"""	1505	protein-coding gene	gene with protein product		602664	"""caspase 4, apoptosis-related cysteine protease"""			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.42G>A	11.37:g.104825694C>T						CASP4_uc001pib.1_5'UTR|CASP4_uc009yxg.1_5'UTR|CASP4_uc010rux.1_Silent_p.L14L|CASP4_uc010ruy.1_Silent_p.L14L	p.L14L	NM_001225	NP_150649	P49662	CASP4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)	1	115	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	14			CARD.		A2NHL8|A2NHM0	Silent	SNP	ENST00000444739.2	37	c.42G>A	CCDS8327.1																																																																																				0.388	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1	NM_001225		27	63	0	0	0	1	0	27	63				
PLEKHH2	130271	broad.mit.edu	37	2	43902586	43902586	+	Intron	SNP	C	C	T			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr2:43902586C>T	ENST00000282406.4	+	3	233					NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2						negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ATGCCCTGAGCCGGTACAGGC	0.458																																						uc010fav.1																			0											c.(874-876)cgG>cgA		Homo sapiens hCG1645220 (LOC728819), mRNA.							79.0	75.0	76.0					2																	43902586		2014	4206	6220	SO:0001627	intron_variant	728819							g.chr2:43902586C>T	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.124-3416C>T	2.37:g.43902586C>T						PLEKHH2_uc002rte.3_Intron|PLEKHH2_uc002rtf.3_Intron|PLEKHH2_uc010yny.2_Intron	p.R292R	NM_001101330	NP_001094800					0	876	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)						Q5JPJ6|Q6P4Q1|Q8N3Q3	Silent	SNP	ENST00000282406.4	37	c.876G>A	CCDS1812.1																																																																																				0.458	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		3	38	0	0	0	1	0	3	38				
GCN1L1	10985	broad.mit.edu	37	12	120572142	120572142	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr12:120572142G>A	ENST00000300648.6	-	53	7282	c.7270C>T	c.(7270-7272)Cgg>Tgg	p.R2424W		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2424					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATGTTTTTCCGGATGACGGCA	0.592																																						uc001txo.3																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(7270-7272)Cgg>Tgg		Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.							119.0	121.0	120.0					12																	120572142		2122	4230	6352	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120572142G>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.7270C>T	12.37:g.120572142G>A	ENSP00000300648:p.Arg2424Trp						p.R2424W	NM_006836	NP_006827	Q92616	GCN1L_HUMAN			52	7283	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		2424					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.7270C>T	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887564	0.72410	.	.	ENSG00000089154	ENST00000300648	T	0.64803	-0.12	5.5	3.56	0.40772	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73071	0.3540	M	0.89095	3.005	0.80722	D	1	D	0.64830	0.994	P	0.48815	0.591	T	0.81129	-0.1073	10	0.87932	D	0	-25.4064	14.1936	0.65654	0.0:0.0:0.5127:0.4873	.	2424	Q92616	GCN1L_HUMAN	W	2424	ENSP00000300648:R2424W	ENSP00000300648:R2424W	R	-	1	2	GCN1L1	119056525	1.000000	0.71417	0.997000	0.53966	0.874000	0.50279	3.123000	0.50453	1.288000	0.44600	0.511000	0.50034	CGG		0.592	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			10	98	0	0	0	1	0	10	98				
SNX22	79856	broad.mit.edu	37	15	64446698	64446698	+	Silent	SNP	G	G	A	rs143435068	byFrequency	TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr15:64446698G>A	ENST00000325881.4	+	7	632	c.573G>A	c.(571-573)ccG>ccA	p.P191P	PPIB_ENST00000558492.1_5'Flank	NM_024798.2	NP_079074.2	Q96L94	SNX22_HUMAN	sorting nexin 22	191				P -> L (in Ref. 2; BAB14776). {ECO:0000305}.	protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			large_intestine(3)|lung(1)|urinary_tract(2)	6						CTCTGCCACCGATGCCCTGAT	0.572													G|||	2	0.000399361	0.0	0.0	5008	,	,		20483	0.0		0.002	False		,,,				2504	0.0					uc002anc.1																			0				large_intestine(3)|lung(1)|urinary_tract(2)	6						c.(571-573)ccG>ccA		Homo sapiens sorting nexin 22 (SNX22), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	121.0	119.0	120.0		573	-5.4	0.0	15	dbSNP_134	120	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	SNX22	NM_024798.2		0,7,6496	AA,AG,GG		0.0698,0.0227,0.0538		191/194	64446698	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	79856				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr15:64446698G>A	AK024014	CCDS10190.1	15q22.1	2010-01-15			ENSG00000157734	ENSG00000157734		"""Sorting nexins"""	16315	protein-coding gene	gene with protein product						12461558, 17400918	Standard	NR_073534		Approved	FLJ13952	uc002anc.1	Q96L94	OTTHUMG00000132965	ENST00000325881.4:c.573G>A	15.37:g.64446698G>A						SNX22_uc002amz.1_3'UTR|SNX22_uc002ana.1_3'UTR|SNX22_uc002anb.1_Non-coding_Transcript|SNX22_uc021sow.1_5'Flank	p.P191P	NM_024798	NP_079074	Q96L94	SNX22_HUMAN			6	632	+			191	P -> L (in Ref. 2; BAB14776).				Q8WUS9|Q9H844	Silent	SNP	ENST00000325881.4	37	c.573G>A	CCDS10190.1																																																																																				0.572	SNX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256524.2	NM_024798		129	134	0	0	0	1	0	129	134				
OR1J2	26740	broad.mit.edu	37	9	125273586	125273586	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr9:125273586G>T	ENST00000335302.5	+	1	506	c.506G>T	c.(505-507)tGt>tTt	p.C169F		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CTGTCTTTCTGTGCTGCGAAC	0.522																																						uc004bmj.2																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						c.(505-507)tGt>tTt		Homo sapiens olfactory receptor, family 1, subfamily J, member 2 (OR1J2), mRNA.							187.0	155.0	166.0					9																	125273586		2203	4300	6503	SO:0001583	missense	26740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125273586G>T		CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"""GPCR / Class A : Olfactory receptors"""	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.506G>T	9.37:g.125273586G>T	ENSP00000335575:p.Cys169Phe					OR1J2_uc011lyv.2_Missense_Mutation_p.C169F	p.C169F	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN			3	832	+			169					A3KFL9|Q6IF14|Q96R90|Q9NZP1	Missense_Mutation	SNP	ENST00000335302.5	37	c.506G>T	CCDS35121.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.676232	0.29783	.	.	ENSG00000197233	ENST00000335302	T	0.00249	8.44	4.91	2.01	0.26516	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	U	0.000533	T	0.00300	0.0009	M	0.90814	3.15	0.27958	N	0.936891	B	0.14438	0.01	B	0.20384	0.029	T	0.38394	-0.9663	10	0.66056	D	0.02	.	6.5425	0.22388	0.1601:0.0:0.6939:0.1459	.	169	Q8NGS2	OR1J2_HUMAN	F	169	ENSP00000335575:C169F	ENSP00000335575:C169F	C	+	2	0	OR1J2	124313407	1.000000	0.71417	0.055000	0.19348	0.004000	0.04260	4.484000	0.60271	0.263000	0.21812	0.650000	0.86243	TGT		0.522	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053932.1			23	148	0	0	0	1	0	23	148				
LRRC56	115399	broad.mit.edu	37	11	552111	552111	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr11:552111C>G	ENST00000270115.7	+	12	1560	c.1060C>G	c.(1060-1062)Ctg>Gtg	p.L354V		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	354										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCCGAGCAGCTGCCCCAACA	0.677																																						uc010qvz.2																			0				kidney(1)|lung(4)|skin(1)	6						c.(1060-1062)Ctg>Gtg		Homo sapiens leucine rich repeat containing 56 (LRRC56), mRNA.							37.0	46.0	43.0					11																	552111		2201	4300	6501	SO:0001583	missense	115399							g.chr11:552111C>G		CCDS7700.1	11p15.5	2005-10-18			ENSG00000161328	ENSG00000161328			25430	protein-coding gene	gene with protein product						12477932	Standard	NM_198075		Approved	FLJ00101, DKFZp761L1518	uc010qvz.2	Q8IYG6	OTTHUMG00000132003	ENST00000270115.7:c.1060C>G	11.37:g.552111C>G	ENSP00000270115:p.Leu354Val						p.L354V	NM_198075	NP_932341	Q8IYG6	LRC56_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	11	1565	+		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	354					Q8N3Q4	Missense_Mutation	SNP	ENST00000270115.7	37	c.1060C>G	CCDS7700.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.721733	0.30503	.	.	ENSG00000161328	ENST00000270115	T	0.13901	2.55	4.38	-0.826	0.10805	.	0.356051	0.19991	N	0.101562	T	0.09202	0.0227	L	0.27053	0.805	0.09310	N	1	P	0.42908	0.793	B	0.43754	0.43	T	0.17653	-1.0362	10	0.62326	D	0.03	-27.0464	4.5887	0.12295	0.149:0.488:0.0:0.363	.	354	Q8IYG6	LRC56_HUMAN	V	354	ENSP00000270115:L354V	ENSP00000270115:L354V	L	+	1	2	LRRC56	542111	0.268000	0.24133	0.066000	0.19879	0.071000	0.16799	0.476000	0.22180	-0.026000	0.13895	-0.254000	0.11334	CTG		0.677	LRRC56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254969.1	NM_198075		33	84	0	0	0	1	0	33	84				
UBXN2B	137886	broad.mit.edu	37	8	59352245	59352245	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr8:59352245A>G	ENST00000399598.2	+	6	709	c.587A>G	c.(586-588)gAt>gGt	p.D196G		NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	196	SEP. {ECO:0000255|PROSITE- ProRule:PRU00732}.					endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						GTGAATTTGGATATGGAGGAT	0.383																																						uc003xtl.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(586-588)gAt>gGt		Homo sapiens UBX domain protein 2B (UBXN2B), mRNA.							109.0	102.0	104.0					8																	59352245		1846	4078	5924	SO:0001583	missense	137886					Golgi apparatus|cytosol|endoplasmic reticulum|nucleus		g.chr8:59352245A>G	AK054658	CCDS43741.1	8q12.1	2008-08-08			ENSG00000215114	ENSG00000215114		"""UBX domain containing"""	27035	protein-coding gene	gene with protein product		610686				8619474, 9110174	Standard	NM_001077619		Approved	p37	uc003xtl.3	Q14CS0	OTTHUMG00000164300	ENST00000399598.2:c.587A>G	8.37:g.59352245A>G	ENSP00000382507:p.Asp196Gly						p.D196G	NM_001077619	NP_001071087	Q14CS0	UBX2B_HUMAN			5	709	+			196			SEP.		B3KWZ3	Missense_Mutation	SNP	ENST00000399598.2	37	c.587A>G	CCDS43741.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.574574	0.86542	.	.	ENSG00000215114	ENST00000399598	T	0.45276	0.9	5.42	5.42	0.78866	SEP domain (4);	0.000000	0.46145	U	0.000309	T	0.62307	0.2417	M	0.67953	2.075	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.64428	-0.6410	10	0.54805	T	0.06	-23.9359	14.0397	0.64667	1.0:0.0:0.0:0.0	.	196	Q14CS0	UBX2B_HUMAN	G	196	ENSP00000382507:D196G	ENSP00000382507:D196G	D	+	2	0	UBXN2B	59514799	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	8.768000	0.91737	2.071000	0.62044	0.491000	0.48974	GAT		0.383	UBXN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378184.1	NM_001077619		20	119	0	0	0	1	0	20	119				
ZNF318	24149	broad.mit.edu	37	6	43325106	43325106	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr6:43325106G>A	ENST00000361428.2	-	3	1023	c.946C>T	c.(946-948)Cga>Tga	p.R316*	ZNF318_ENST00000318149.3_Nonsense_Mutation_p.R316*	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	316					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R316*(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCCAGTTCTCGAAACTCAGGG	0.522																																						uc003oux.3																			1	Substitution - Nonsense(1)	p.R316*(2)	endometrium(1)	autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(946-948)Cga>Tga		Homo sapiens zinc finger protein 318 (ZNF318), mRNA.							166.0	145.0	152.0					6																	43325106		2203	4300	6503	SO:0001587	stop_gained	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43325106G>A	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.946C>T	6.37:g.43325106G>A	ENSP00000354964:p.Arg316*					ZNF318_uc003ouw.3_Non-coding_Transcript	p.R316*	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		2	1024	-			316					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Nonsense_Mutation	SNP	ENST00000361428.2	37	c.946C>T	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	37	6.066661	0.97251	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	.	.	.	5.64	3.75	0.43078	.	0.161081	0.38326	N	0.001735	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.4378	11.1986	0.48728	0.0:0.1376:0.7192:0.1432	.	.	.	.	X	316	.	ENSP00000323032:R316X	R	-	1	2	ZNF318	43433084	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.731000	0.47343	1.340000	0.45581	0.650000	0.86243	CGA		0.522	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		16	55	0	0	0	1	0	16	55				
FBN3	84467	broad.mit.edu	37	19	8196578	8196578	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr19:8196578C>T	ENST00000600128.1	-	15	2264	c.1850G>A	c.(1849-1851)cGc>cAc	p.R617H	FBN3_ENST00000270509.2_Missense_Mutation_p.R617H|FBN3_ENST00000601739.1_Missense_Mutation_p.R617H			Q75N90	FBN3_HUMAN	fibrillin 3	617						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCAGGTGCTGCGCACGTGGGT	0.677																																						uc002mjf.3																			0		p.V616V(1)|p.V616E(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(1849-1851)cGc>cAc		Homo sapiens fibrillin 3 (FBN3), mRNA.							46.0	44.0	45.0					19																	8196578		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8196578C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1850G>A	19.37:g.8196578C>T	ENSP00000470498:p.Arg617His						p.R617H	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			13	1867	-			617					Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.1850G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	14.74	2.626523	0.46840	.	.	ENSG00000142449	ENST00000270509	D	0.88046	-2.33	3.02	1.96	0.26148	Matrix fibril-associated (2);	0.000000	0.85682	U	0.000000	D	0.85435	0.5696	M	0.85630	2.765	0.40734	D	0.982779	B	0.29432	0.244	B	0.21151	0.033	T	0.80482	-0.1363	10	0.42905	T	0.14	.	9.7245	0.40324	0.0:0.8929:0.0:0.1071	.	617	Q75N90	FBN3_HUMAN	H	617	ENSP00000270509:R617H	ENSP00000270509:R617H	R	-	2	0	FBN3	8102578	1.000000	0.71417	0.646000	0.29493	0.065000	0.16274	4.003000	0.57061	0.252000	0.21531	0.185000	0.17295	CGC		0.677	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		14	62	0	0	0	1	0	14	62				
MLLT10	8028	broad.mit.edu	37	10	22022990	22022990	+	Silent	SNP	T	T	C			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr10:22022990T>C	ENST00000307729.7	+	20	2968	c.2790T>C	c.(2788-2790)ccT>ccC	p.P930P	MLLT10_ENST00000377059.3_Silent_p.P930P|MLLT10_ENST00000377072.3_Silent_p.P946P|MLLT10_ENST00000446906.2_Silent_p.P930P			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	930					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						CCCAGAACCCTACCCCTCTCA	0.438			T	"""MLL, PICALM, CDK6"""	AL																																	uc001iqt.3				Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	"""MLL, PICALM, CDK6"""		AL		0				NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(2788-2790)ccT>ccC		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (MLLT10), transcript variant 3, mRNA.							118.0	98.0	105.0					10																	22022990		2203	4300	6503	SO:0001819	synonymous_variant	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:22022990T>C	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.2790T>C	10.37:g.22022990T>C						MLLT10_uc001iqs.3_Silent_p.P946P|MLLT10_uc001iqv.3_Non-coding_Transcript|MLLT10_uc021pny.1_Silent_p.P930P|MLLT10_uc001ira.3_Silent_p.P387P|MLLT10_uc001irb.3_Non-coding_Transcript	p.P930P	NM_001195626	NP_001182555	P55197	AF10_HUMAN			19	3139	+			946					B1ANA8|Q5JT37|Q5VX90|Q66K63	Silent	SNP	ENST00000307729.7	37	c.2790T>C	CCDS55708.1																																																																																				0.438	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			3	81	0	0	0	1	0	3	81				
PRSS53	339105	broad.mit.edu	37	16	31096483	31096483	+	Nonsense_Mutation	SNP	C	C	A	rs375690216	byFrequency	TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr16:31096483C>A	ENST00000280606.6	-	7	1135	c.982G>T	c.(982-984)Gga>Tga	p.G328*		NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	328	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			large_intestine(1)|lung(3)	4						ACCAGGGCTCCGCCACAGGCC	0.667																																						uc002eaq.3																			0				large_intestine(1)|lung(3)	4						c.(982-984)Gga>Tga		Homo sapiens protease, serine, 53 (PRSS53), mRNA.							23.0	28.0	26.0					16																	31096483		2091	4218	6309	SO:0001587	stop_gained	339105				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:31096483C>A		CCDS42153.1	16p11.2	2010-05-07			ENSG00000151006	ENSG00000151006		"""Serine peptidases / Serine peptidases"""	34407	protein-coding gene	gene with protein product	"""polyserase 3"""	610561				16566820	Standard	NM_001039503		Approved	POL3S	uc002eaq.3	Q2L4Q9	OTTHUMG00000047358	ENST00000280606.6:c.982G>T	16.37:g.31096483C>A	ENSP00000280606:p.Gly328*					PRSS53_uc002ear.3_Nonsense_Mutation_p.G122*	p.G328*	NM_001039503	NP_001034592	Q2L4Q9	PRS53_HUMAN			6	982	-			328			Peptidase S1 2.			Nonsense_Mutation	SNP	ENST00000280606.6	37	c.982G>T	CCDS42153.1	.	.	.	.	.	.	.	.	.	.	C	37	6.307282	0.97462	.	.	ENSG00000151006	ENST00000280606	.	.	.	5.75	5.75	0.90469	.	0.000000	0.36066	U	0.002812	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.7132	0.91666	0.0:1.0:0.0:0.0	.	.	.	.	X	328	.	ENSP00000280606:G328X	G	-	1	0	PRSS53	31003984	0.997000	0.39634	0.974000	0.42286	0.952000	0.60782	4.058000	0.57463	2.720000	0.93068	0.655000	0.94253	GGA		0.667	PRSS53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108580.4	NM_001081268		3	22	0	0	0	1	0	3	22				
LRRC16B	90668	broad.mit.edu	37	14	24538027	24538027	+	Silent	SNP	C	C	T			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr14:24538027C>T	ENST00000342740.5	+	38	3988	c.3834C>T	c.(3832-3834)ccC>ccT	p.P1278P	LRRC16B_ENST00000334420.7_Silent_p.P331P|CPNE6_ENST00000216775.2_5'Flank|CPNE6_ENST00000397016.2_5'Flank|CPNE6_ENST00000537691.1_5'Flank	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1278						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CATGGCCTCCCAAGCCAGTGG	0.637																																						uc001wlj.2																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52						c.(3832-3834)ccC>ccT		Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.							24.0	25.0	25.0					14																	24538027		2203	4300	6503	SO:0001819	synonymous_variant	90668							g.chr14:24538027C>T	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.3834C>T	14.37:g.24538027C>T						LRRC16B_uc001wlk.2_Silent_p.P331P|CPNE6_uc010tnv.2_5'Flank|CPNE6_uc001wlm.3_5'Flank|CPNE6_uc001wll.3_5'Flank	p.P1278P	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	37	3991	+			1278					Q8TEF7|Q96HS9	Silent	SNP	ENST00000342740.5	37	c.3834C>T	CCDS32054.1																																																																																				0.637	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		9	32	0	0	0	1	0	9	32				
SLC12A5	57468	broad.mit.edu	37	20	44666024	44666024	+	Splice_Site	SNP	G	G	A			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr20:44666024G>A	ENST00000454036.2	+	6	730	c.681G>A	c.(679-681)ctG>ctA	p.L227L	SLC12A5_ENST00000372315.1_Splice_Site_p.L204L|SLC12A5_ENST00000243964.3_Splice_Site_p.L204L	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	227					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AAATCCTGCTGGTAAGAGAGG	0.582																																						uc010zxl.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.e6+1		Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	Bumetanide(DB00887)|Potassium Chloride(DB00761)						61.0	52.0	55.0					20																	44666024		2203	4300	6503	SO:0001630	splice_region_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44666024G>A	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.681+1G>A	20.37:g.44666024G>A						SLC12A5_uc002xra.2_Splice_Site_p.L204_splice|SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Splice_Site_p.L204_splice	p.L227_splice	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			6	757	+		Myeloproliferative disorder(115;0.0122)	227					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Splice_Site	SNP	ENST00000454036.2	37	c.681_splice	CCDS46610.1																																																																																				0.582	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1		Silent	3	37	0	0	0	1	0	3	37				
CAMKK2	10645	broad.mit.edu	37	12	121706441	121706441	+	Splice_Site	SNP	G	G	A	rs200886794		TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr12:121706441G>A	ENST00000324774.5	-	5	1453	c.625C>T	c.(625-627)Cgt>Tgt	p.R209C	CAMKK2_ENST00000402834.4_Splice_Site_p.R209C|CAMKK2_ENST00000446440.2_Splice_Site_p.R209C|CAMKK2_ENST00000392473.2_Splice_Site_p.R209C|CAMKK2_ENST00000538733.1_Splice_Site_p.R209C|CAMKK2_ENST00000337174.3_Splice_Site_p.R209C|CAMKK2_ENST00000535524.1_Intron|CAMKK2_ENST00000404169.3_Splice_Site_p.R209C|CAMKK2_ENST00000347034.2_Splice_Site_p.R209C|CAMKK2_ENST00000412367.2_Splice_Site_p.R209C|CAMKK2_ENST00000392474.2_Splice_Site_p.R209C	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	209	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|RP domain.				calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCAAACTCACGTGGAAAGCCG	0.552																																						uc001tzu.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.e5+1		Homo sapiens calcium/calmodulin-dependent protein kinase kinase 2, beta (CAMKK2), transcript variant 1, mRNA.							148.0	143.0	145.0					12																	121706441		2203	4300	6503	SO:0001630	splice_region_variant	10645				MAPKKK cascade|calcium-mediated signaling|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity	g.chr12:121706441G>A	AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.625+1C>T	12.37:g.121706441G>A						CAMKK2_uc001tzt.3_Splice_Site_p.R209_splice|CAMKK2_uc001tzv.3_Splice_Site_p.R209_splice|CAMKK2_uc001tzw.3_Splice_Site_p.R209_splice|CAMKK2_uc001tzx.3_Splice_Site_p.R209_splice|CAMKK2_uc001tzy.3_Splice_Site_p.R209_splice|CAMKK2_uc001uaa.1_Splice_Site_p.R209_splice|CAMKK2_uc001uab.3_Splice_Site_p.R209_splice|CAMKK2_uc001uac.3_Splice_Site_p.R209_splice	p.R209_splice	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN			5	800	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		209			Protein kinase.|RP domain.		A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Splice_Site	SNP	ENST00000324774.5	37	c.625_splice	CCDS9216.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825996	0.90955	.	.	ENSG00000110931	ENST00000392474;ENST00000347034;ENST00000538733;ENST00000337174;ENST00000324774;ENST00000412367;ENST00000404169;ENST00000360452;ENST00000446440;ENST00000392473	T;T;T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	4.99	4.99	0.66335	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81327	0.4799	M	0.70842	2.15	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.83275	0.983;0.988;0.993;0.993;0.993;0.996;0.993	D	0.83522	0.0086	10	0.87932	D	0	4.9114	17.3098	0.87206	0.0:0.0:1.0:0.0	.	209;209;209;209;209;209;209	Q96RR4-6;Q96RR4-2;Q96RR4-7;Q96RR4-5;Q96RR4-4;Q96RR4;Q96RR4-3	.;.;.;.;.;KKCC2_HUMAN;.	C	209;209;209;209;209;209;209;192;209;209	ENSP00000376266:R209C;ENSP00000321230:R209C;ENSP00000445944:R209C;ENSP00000336634:R209C;ENSP00000312741:R209C;ENSP00000388368:R209C;ENSP00000384600:R209C;ENSP00000388273:R209C;ENSP00000376265:R209C	ENSP00000312741:R209C	R	-	1	0	CAMKK2	120190824	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	8.890000	0.92477	2.522000	0.85027	0.558000	0.71614	CGT		0.552	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402563.1	NM_172226	Missense_Mutation	114	154	0	0	0	1	0	114	154				
ENPP2	5168	broad.mit.edu	37	8	120650732	120650732	+	Silent	SNP	A	A	G			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr8:120650732A>G	ENST00000075322.6	-	2	127	c.69T>C	c.(67-69)aaT>aaC	p.N23N	ENPP2_ENST00000259486.6_Silent_p.N23N|ENPP2_ENST00000522826.1_Silent_p.N23N|ENPP2_ENST00000427067.2_Silent_p.N19N	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	23				N -> S (in Ref. 1; AAA64785 and 5; ABW38316). {ECO:0000305}.	cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CTAAGCAGATATTGACTCCAA	0.378																																					Melanoma(20;305 879 2501 4818 31020)	uc003yos.2																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(67-69)aaT>aaC		Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.							143.0	144.0	144.0					8																	120650732		2203	4300	6503	SO:0001819	synonymous_variant	5168				G-protein coupled receptor protein signaling pathway|cellular component movement|chemotaxis|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120650732A>G	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.69T>C	8.37:g.120650732A>G						ENPP2_uc010mdd.2_Silent_p.N23N|ENPP2_uc003yot.2_Silent_p.N23N	p.N23N	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		1	155	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		23	N -> S (in Ref. 1; AAA64785 and 5; ABW38316).				A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Silent	SNP	ENST00000075322.6	37	c.69T>C	CCDS34936.1																																																																																				0.378	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			38	128	0	0	0	1	0	38	128				
KRTAP10-5	386680	broad.mit.edu	37	21	45999781	45999781	+	Silent	SNP	G	G	A			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr21:45999781G>A	ENST00000400372.1	-	1	700	c.675C>T	c.(673-675)tgC>tgT	p.C225C	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	225	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						ATATGGGGCGGCAGAGGAGGG	0.682																																						uc002zfl.1																			0				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(673-675)tgC>tgT		Homo sapiens keratin associated protein 10-5 (KRTAP10-5), mRNA.							69.0	80.0	76.0					21																	45999781		2203	4300	6503	SO:0001819	synonymous_variant	386680					keratin filament		g.chr21:45999781G>A	AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"""Keratin associated proteins"""	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.675C>T	21.37:g.45999781G>A						TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.C225C	NM_198694	NP_941967	P60370	KR105_HUMAN			0	701	-			225			22 X 5 AA repeats of C-C-X(3).		Q0VAR7|Q0VAR8|Q70LJ3	Silent	SNP	ENST00000400372.1	37	c.675C>T	CCDS42958.1																																																																																				0.682	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			4	165	0	0	0	1	0	4	165				
CACTIN	58509	broad.mit.edu	37	19	3612148	3612148	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr19:3612148C>A	ENST00000429344.2	-	10	2102	c.2050G>T	c.(2050-2052)Gac>Tac	p.D684Y	CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000248420.5_Missense_Mutation_p.D684Y|CACTIN_ENST00000221899.3_Missense_Mutation_p.D616Y	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	684					cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										TCGATGAGGTCGGGGTAGAAG	0.592																																						uc002lyh.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(2)	15						c.(2050-2052)Gac>Tac		Homo sapiens chromosome 19 open reading frame 29 (C19orf29), transcript variant 1, mRNA.							145.0	165.0	158.0					19																	3612148		2144	4234	6378	SO:0001583	missense	58509					catalytic step 2 spliceosome	protein binding	g.chr19:3612148C>A	BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"""NY REN 24 antigen"", ""functional spliceosome-associated protein c"", ""cactin homolog (Drosophila)"""		"""chromosome 19 open reading frame 29"""	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.2050G>T	19.37:g.3612148C>A	ENSP00000415078:p.Asp684Tyr					C19orf29-AS1_uc021umw.1_Silent_p.V119V|C19orf29_uc010xho.2_Missense_Mutation_p.D143Y|C19orf29_uc010dtn.3_Missense_Mutation_p.D532Y|C19orf29_uc002lyi.4_Missense_Mutation_p.D684Y|C19orf29_uc010dto.3_Non-coding_Transcript	p.D684Y	NM_001080543	NP_067054	Q8WUQ7	CS029_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	9	2103	-		Hepatocellular(1079;0.137)	684					A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Missense_Mutation	SNP	ENST00000429344.2	37	c.2050G>T	CCDS45920.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543469	0.86022	.	.	ENSG00000105298	ENST00000429344;ENST00000248420;ENST00000221899	.	.	.	4.2	4.2	0.49525	Cactin protein, cactus-binding domain, C-terminal (1);	0.053048	0.64402	D	0.000001	D	0.84447	0.5474	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88229	0.2902	9	0.87932	D	0	.	15.6393	0.76984	0.0:1.0:0.0:0.0	.	684;684	Q8WUQ7-2;Q8WUQ7	.;CS029_HUMAN	Y	684;684;616	.	ENSP00000221899:D616Y	D	-	1	0	C19orf29	3563148	1.000000	0.71417	0.986000	0.45419	0.926000	0.56050	7.259000	0.78381	2.339000	0.79563	0.643000	0.83706	GAC		0.592	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457370.2			47	190	0	0	0	1	0	47	190				
GPR155	151556	broad.mit.edu	37	2	175335223	175335223	+	Silent	SNP	C	C	T			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr2:175335223C>T	ENST00000392552.2	-	4	1159	c.921G>A	c.(919-921)gtG>gtA	p.V307V	GPR155_ENST00000295500.4_Silent_p.V307V|GPR155_ENST00000392551.2_Silent_p.V307V	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	307					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TATGGTTCACCACACTGTCGC	0.408																																						uc002uit.3																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						c.(919-921)gtG>gtA		Homo sapiens G protein-coupled receptor 155 (GPR155), transcript variant 9, mRNA.							106.0	89.0	95.0					2																	175335223		2203	4300	6503	SO:0001819	synonymous_variant	151556				intracellular signal transduction|transmembrane transport	integral to membrane		g.chr2:175335223C>T	AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.921G>A	2.37:g.175335223C>T						GPR155_uc002uiu.3_Silent_p.V307V|GPR155_uc002uiv.3_Silent_p.V307V|GPR155_uc010fqs.3_Silent_p.V307V	p.V307V	NM_001033045	NP_689742	Q7Z3F1	GP155_HUMAN			4	1312	-			307					B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Silent	SNP	ENST00000392552.2	37	c.921G>A	CCDS2259.1																																																																																				0.408	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	NM_152529		5	54	0	0	0	1	0	5	54				
CCL24	6369	broad.mit.edu	37	7	75441263	75441263	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr7:75441263G>C	ENST00000416943.1	-	4	304	c.211C>G	c.(211-213)Cag>Gag	p.Q71E	CCL24_ENST00000222902.2_Missense_Mutation_p.Q71E	NM_002991.2	NP_002982.2	O00175	CCL24_HUMAN	chemokine (C-C motif) ligand 24	71					cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of inflammatory response (GO:0050729)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)			endometrium(1)|lung(2)	3						CAGAACTGCTGGCCCTTCTTG	0.612																																						uc011kga.2																			0				endometrium(1)|lung(2)	3						c.(211-213)Cag>Gag		Homo sapiens chemokine (C-C motif) ligand 24 (CCL24), mRNA.							84.0	70.0	75.0					7																	75441263		2203	4300	6503	SO:0001583	missense	6369				cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of Rac GTPase activity|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|signal transduction	extracellular space	chemokine activity	g.chr7:75441263G>C	U85768	CCDS34670.1	7q11.23	2013-02-25	2002-08-22	2002-08-23	ENSG00000106178	ENSG00000106178		"""Chemokine ligands"", ""Endogenous ligands"""	10623	protein-coding gene	gene with protein product	"""CK-beta-6"", ""myeloid progenitor inhibitory factor 2"", ""eotaxin-2"""	602495	"""small inducible cytokine subfamily A (Cys-Cys), member 24"""	SCYA24		9104803, 9598329	Standard	NM_002991		Approved	Ckb-6, MPIF-2, eotaxin-2, MPIF2	uc011kga.2	O00175	OTTHUMG00000156635	ENST00000416943.1:c.211C>G	7.37:g.75441263G>C	ENSP00000400533:p.Gln71Glu						p.Q71E	NM_002991	NP_002982	O00175	CCL24_HUMAN			2	270	-			71					B2R5K2	Missense_Mutation	SNP	ENST00000416943.1	37	c.211C>G	CCDS34670.1	.	.	.	.	.	.	.	.	.	.	G	5.377	0.254886	0.10185	.	.	ENSG00000106178	ENST00000222902;ENST00000416943	T;T	0.04654	3.58;3.58	4.33	3.43	0.39272	Chemokine interleukin-8-like domain (3);	1.572840	0.03766	N	0.258990	T	0.09818	0.0241	M	0.67953	2.075	0.20403	N	0.999908	B	0.28820	0.224	B	0.26094	0.066	T	0.40608	-0.9554	10	0.51188	T	0.08	.	10.4625	0.44587	0.0:0.1985:0.8015:0.0	.	71	O00175	CCL24_HUMAN	E	71	ENSP00000222902:Q71E;ENSP00000400533:Q71E	ENSP00000222902:Q71E	Q	-	1	0	CCL24	75279199	0.628000	0.27138	0.182000	0.23118	0.107000	0.19398	1.216000	0.32443	0.932000	0.37266	-0.315000	0.08773	CAG		0.612	CCL24-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344886.1	NM_002991		3	97	0	0	0	1	0	3	97				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	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)	uc003vwc.4	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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	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	NP_004324	P15056	BRAF_HUMAN			14	1860	-	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		65	50	0	0	0	1	0	65	50				
MYBPC2	4606	broad.mit.edu	37	19	50957538	50957538	+	Silent	SNP	G	G	A	rs558923030	byFrequency	TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr19:50957538G>A	ENST00000357701.5	+	18	1977	c.1926G>A	c.(1924-1926)ccG>ccA	p.P642P		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	642	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CAGACCCCCCGGAGGCTGTGC	0.647													g|||	7	0.00139776	0.0	0.0	5008	,	,		14805	0.0		0.0	False		,,,				2504	0.0072					uc002psf.2																			0				breast(1)	1						c.(1924-1926)ccG>ccA		Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.							38.0	40.0	39.0					19																	50957538		1994	4154	6148	SO:0001819	synonymous_variant	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50957538G>A		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.1926G>A	19.37:g.50957538G>A							p.P642P	NM_004533	NP_004524	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	17	1977	+		all_neural(266;0.057)	642			Fibronectin type-III 1.		A1L4G9	Silent	SNP	ENST00000357701.5	37	c.1926G>A	CCDS46152.1																																																																																				0.647	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		6	65	0	0	0	1	0	6	65				
BEND6	221336	broad.mit.edu	37	6	56883337	56883337	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr6:56883337T>A	ENST00000370746.3	+	6	1100	c.831T>A	c.(829-831)gaT>gaA	p.D277E	BEND6_ENST00000545789.1_Missense_Mutation_p.D179E|BEND6_ENST00000370750.2_3'UTR	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	277					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						ACTCTCAGGATATTAAATAGA	0.313																																						uc010kab.3																			0		p.D277Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						c.(829-831)gaT>gaA		Homo sapiens BEN domain containing 6 (BEND6), mRNA.							60.0	57.0	58.0					6																	56883337		1815	4066	5881	SO:0001583	missense	221336							g.chr6:56883337T>A	AK054724	CCDS43476.1	6p12.1	2012-11-22	2008-10-03	2008-10-03	ENSG00000151917	ENSG00000151917		"""BEN domain containing"""	20871	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 65"""	C6orf65			Standard	NM_152731		Approved	FLJ30162, bA203B9.1	uc010kab.3	Q5SZJ8	OTTHUMG00000014914	ENST00000370746.3:c.831T>A	6.37:g.56883337T>A	ENSP00000359782:p.Asp277Glu					BEND6_uc003pdi.4_Missense_Mutation_p.D179E	p.D277E	NM_152731	NP_689944	Q5SZJ8	BEND6_HUMAN			5	1417	+			277					Q4G0W8|Q8N662|Q96NS6	Missense_Mutation	SNP	ENST00000370746.3	37	c.831T>A	CCDS43476.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.212778	0.79352	.	.	ENSG00000151917	ENST00000370746;ENST00000545789	.	.	.	4.96	3.79	0.43588	.	0.439888	0.16249	U	0.222800	T	0.13415	0.0325	N	0.19112	0.55	0.29559	N	0.850773	B;B	0.31817	0.231;0.341	B;B	0.32864	0.107;0.154	T	0.09250	-1.0683	9	0.87932	D	0	-20.2422	8.9054	0.35521	0.0:0.0853:0.0:0.9147	.	277;179	Q5SZJ8;Q5SZJ8-3	BEND6_HUMAN;.	E	277;179	.	ENSP00000359782:D277E	D	+	3	2	BEND6	56991296	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.116000	0.41930	1.010000	0.39314	0.533000	0.62120	GAT		0.313	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041032.4	NM_152731		18	32	0	0	0	1	0	18	32				
EHD2	30846	broad.mit.edu	37	19	48244668	48244668	+	Silent	SNP	C	C	A			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr19:48244668C>A	ENST00000263277.3	+	6	1862	c.1611C>A	c.(1609-1611)cgC>cgA	p.R537R	EHD2_ENST00000538399.1_Silent_p.R401R|EHD2_ENST00000540884.1_3'UTR	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	537	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		CCAAGCGACGCCACAAGGGCT	0.716																																						uc002phj.4																			0				endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19						c.(1609-1611)cgC>cgA		Homo sapiens EH-domain containing 2 (EHD2), mRNA.							10.0	11.0	11.0					19																	48244668		2192	4284	6476	SO:0001819	synonymous_variant	30846				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding	g.chr19:48244668C>A	AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"""EF-hand domain containing"""	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.1611C>A	19.37:g.48244668C>A						EHD2_uc010xyu.2_Silent_p.R401R	p.R537R	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)	5	1861	+		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	537			EH.		B2RDH9|B4DNU6|Q96CB6	Silent	SNP	ENST00000263277.3	37	c.1611C>A	CCDS12704.1																																																																																				0.716	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465851.1			9	9	0	0	0	1	0	9	9				
BCOR	54880	broad.mit.edu	37	X	39923030	39923031	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chrX:39923030_39923031insT	ENST00000378444.4	-	8	3905_3906	c.3677_3678insA	c.(3676-3678)gatfs	p.D1226fs	BCOR_ENST00000378463.1_Frame_Shift_Ins_p.D69fs|BCOR_ENST00000342274.4_Frame_Shift_Ins_p.D1192fs|BCOR_ENST00000397354.3_Frame_Shift_Ins_p.D1192fs|BCOR_ENST00000378455.4_Frame_Shift_Ins_p.D1174fs	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1226					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CAGGTTTGCCATCTGCTGCCGA	0.54			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															uc004den.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(3676-3678)gatfs		Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.																																				SO:0001589	frameshift_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39923030_39923031insT	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.3678dupA	X.37:g.39923031_39923031dupT	ENSP00000367705:p.Asp1226fs					BCOR_uc004dep.4_Frame_Shift_Ins_p.D1192fs|BCOR_uc004deo.4_Frame_Shift_Ins_p.D1174fs|BCOR_uc010nhb.3_5'Flank|BCOR_uc004dem.4_Frame_Shift_Ins_p.D1192fs	p.D1226fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN			7	3969_3970	-			1226					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Frame_Shift_Ins	INS	ENST00000378444.4	37	c.3677_3678insA	CCDS48093.1																																																																																				0.540	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		59	42						59	42	---	---	---	---
