#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
ANK1	286	broad.mit.edu	37	8	41530310	41530310	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr8:41530310G>A	ENST00000347528.4	-	38	4741	c.4658C>T	c.(4657-4659)gCg>gTg	p.A1553V	ANK1_ENST00000396945.1_Missense_Mutation_p.A1553V|ANK1_ENST00000265709.8_Missense_Mutation_p.A1594V|ANK1_ENST00000379758.2_Missense_Mutation_p.A1553V|ANK1_ENST00000289734.7_Missense_Mutation_p.A1553V|ANK1_ENST00000396942.1_Missense_Mutation_p.A1553V|ANK1_ENST00000352337.4_Missense_Mutation_p.A1553V	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1553	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTCCGTGGCCGCCAAGGGGAT	0.622																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(4657-4659)gCg>gTg		ankyrin 1, erythrocytic							43.0	42.0	42.0					8																	41530310		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41530310G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4658C>T	8.37:g.41530310G>A	ENSP00000339620:p.Ala1553Val					ANK1_ENST00000289734.7_Missense_Mutation_p.A1553V|ANK1_ENST00000265709.8_Missense_Mutation_p.A1594V|ANK1_ENST00000347528.4_Missense_Mutation_p.A1553V|ANK1_ENST00000396945.1_Missense_Mutation_p.A1553V|ANK1_ENST00000379758.2_Missense_Mutation_p.A1553V|ANK1_ENST00000352337.4_Missense_Mutation_p.A1553V	p.A1553V			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		38	4741	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1553			55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.4658C>T	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069112	0.55539	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709	T;T;T;T;T;T;T	0.68765	-0.33;-0.35;-0.3;-0.29;-0.31;-0.29;-0.32	5.24	3.46	0.39613	.	0.062523	0.64402	N	0.000006	T	0.59018	0.2163	L	0.55481	1.735	0.53005	D	0.999967	B;B;B;B	0.20887	0.049;0.014;0.028;0.049	B;B;B;B	0.20577	0.025;0.013;0.03;0.025	T	0.54450	-0.8292	10	0.40728	T	0.16	.	9.7624	0.40541	0.1585:0.0:0.8415:0.0	.	1594;1553;1553;1553	P16157-21;P16157;P16157-5;P16157-3	.;ANK1_HUMAN;.;.	V	1553;1553;1553;1553;1553;1553;1594	ENSP00000339620:A1553V;ENSP00000289734:A1553V;ENSP00000369082:A1553V;ENSP00000380149:A1553V;ENSP00000380147:A1553V;ENSP00000309131:A1553V;ENSP00000265709:A1594V	ENSP00000265709:A1594V	A	-	2	0	ANK1	41649467	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	6.371000	0.73119	0.734000	0.32515	0.552000	0.68991	GCG		0.622	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		3	59	0	0	0	1	0	3	59				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	4	49	0	0	0	1	0	4	49				
UBBP4	23666	broad.mit.edu	37	17	21731270	21731270	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr17:21731270T>C	ENST00000584755.1	+	2	969	c.572T>C	c.(571-573)aTc>aCc	p.I191T	UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR					ubiquitin B pseudogene 4									p.I191T(3)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						ATCCCCCCGATCAGCAGAGGC	0.547																																						ENST00000584755.1																			3	Substitution - Missense(3)	p.I191T(3)	kidney(2)|endometrium(1)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(571-573)aTc>aCc																																						SO:0001583	missense	0							g.chr17:21731270T>C	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000584755.1:c.572T>C	17.37:g.21731270T>C	ENSP00000463647:p.Ile191Thr					UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR	p.I191T							2	969	+									Missense_Mutation	SNP	ENST00000584755.1	37	c.572T>C																																																																																					0.547	UBBP4-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000444585.1			5	91	0	0	0	1	0	5	91				
CYP2A13	1553	broad.mit.edu	37	19	41599590	41599590	+	Missense_Mutation	SNP	T	T	C	rs202067963		TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr19:41599590T>C	ENST00000330436.3	+	6	887	c.887T>C	c.(886-888)cTg>cCg	p.L296P		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	296					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	ATGACCACCCTGAACCTCTTC	0.557																																						ENST00000330436.3																			0				breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42						c.(886-888)cTg>cCg		cytochrome P450, family 2, subfamily A, polypeptide 13	Clomipramine(DB01242)|Nicotine(DB00184)						119.0	99.0	106.0					19																	41599590		2203	4300	6503	SO:0001583	missense	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41599590T>C	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.887T>C	19.37:g.41599590T>C	ENSP00000332679:p.Leu296Pro						p.L296P	NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN			6	887	+			296					Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	37	c.887T>C	CCDS12571.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	.	17.17	3.322080	0.60634	.	.	ENSG00000197838	ENST00000330436	T	0.01505	4.82	4.58	3.56	0.40772	.	0.089700	0.47093	D	0.000254	T	0.08626	0.0214	M	0.76838	2.35	0.53005	D	0.999966	D	0.89917	1.0	D	0.97110	1.0	T	0.01448	-1.1352	10	0.51188	T	0.08	.	9.3287	0.38008	0.0:0.0879:0.0:0.9121	.	296	Q16696	CP2AD_HUMAN	P	296	ENSP00000332679:L296P	ENSP00000332679:L296P	L	+	2	0	CYP2A13	46291430	0.425000	0.25498	0.196000	0.23383	0.900000	0.52787	3.583000	0.53928	0.800000	0.34041	0.397000	0.26171	CTG		0.557	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		3	118	0	0	0	1	0	3	118				
IGHV1OR15-9	390531	broad.mit.edu	37	15	20169960	20169960	+	RNA	SNP	G	G	A			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr15:20169960G>A	ENST00000338912.5	-	0	311									immunoglobulin heavy variable 1/OR15-9 (non-functional)																		CAGATCTCAGGCTGCTTAGCT	0.527																																						ENST00000338912.5																			0																				217.0	211.0	213.0					15																	20169960		2112	4224	6336			0							g.chr15:20169960G>A	L25542		15q11.1	2013-10-18	2008-08-22		ENSG00000188403	ENSG00000188403		"""Immunoglobulins / IGH orphons"""	5569	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR15-9"", ""V-set and immunoglobulin domain containing 7"""	VSIG7		7959766	Standard	NG_032069		Approved	IGHV1/OR15-9, IGHV1OR159			OTTHUMG00000171652		15.37:g.20169960G>A														0	311	-									RNA	SNP	ENST00000338912.5	37																																																																																						0.527	IGHV1OR15-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000414646.4			5	456	0	0	0	1	0	5	456				
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	A	G			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(982-984)ccT>ccC		mucin 16, cell surface associated							96.0	95.0	96.0					19																	9090831		2041	4195	6236	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090831A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.984T>C	19.37:g.9090831A>G							p.P328P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	1187	-			328			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.984T>C	CCDS54212.1																																																																																				0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		3	100	0	0	0	1	0	3	100				
GP6	51206	broad.mit.edu	37	19	55525819	55525819	+	3'UTR	SNP	G	G	A			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr19:55525819G>A	ENST00000417454.1	-	0	1517				CTC-550B14.7_ENST00000593060.1_RNA|CTC-550B14.7_ENST00000586845.1_RNA|GP6_ENST00000310373.3_Silent_p.C498C|GP6_ENST00000333884.2_3'UTR	NM_016363.4	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)						blood coagulation (GO:0007596)|enzyme linked receptor protein signaling pathway (GO:0007167)|leukocyte migration (GO:0050900)|platelet activation (GO:0030168)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	collagen binding (GO:0005518)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		TTGTTAGACCGCAGTGGGAGA	0.502																																						ENST00000310373.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1492-1494)tgC>tgT		glycoprotein VI (platelet)							104.0	103.0	103.0					19																	55525819		1955	4151	6106	SO:0001624	3_prime_UTR_variant	51206				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity	g.chr19:55525819G>A	AB035073	CCDS42626.1, CCDS46184.1, CCDS58678.1	19q13.4	2013-01-29			ENSG00000088053	ENSG00000088053		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14388	protein-coding gene	gene with protein product		605546				11027634	Standard	NM_001083899		Approved	GPVI	uc002qil.3	Q9HCN6	OTTHUMG00000159709	ENST00000417454.1:c.*470C>T	19.37:g.55525819G>A						GP6_ENST00000417454.1_3'UTR|CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000333884.2_3'UTR	p.C498C	NM_001083899.1	NP_001077368.1	Q9HCN6	GPVI_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)	8	1521	-			0					Q9HCN7|Q9UIF2	Silent	SNP	ENST00000417454.1	37	c.1494C>T	CCDS46184.1																																																																																				0.502	GP6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357006.1			4	147	0	0	0	1	0	4	147				
TUBA3D	113457	broad.mit.edu	37	2	132235871	132235871	+	Silent	SNP	C	C	T			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr2:132235871C>T	ENST00000321253.6	+	2	245	c.138C>T	c.(136-138)gaC>gaT	p.D46D		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	46					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		GTGGCGGGGACGACTCCTTCA	0.562																																					Ovarian(137;2059 2432 35543 39401)	ENST00000321253.6																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32						c.(136-138)gaC>gaT		tubulin, alpha 3d							108.0	94.0	99.0					2																	132235871		2203	4300	6503	SO:0001819	synonymous_variant	113457				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:132235871C>T	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"""Tubulins"""	24071	protein-coding gene	gene with protein product	"""alpha-tubulin isotype H2-alpha"""					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.138C>T	2.37:g.132235871C>T							p.D46D	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	245	+			46					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000321253.6	37	c.138C>T	CCDS33290.1																																																																																				0.562	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		48	63	0	0	0	1	0	48	63				
TNR	7143	broad.mit.edu	37	1	175325475	175325475	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr1:175325475A>T	ENST00000367674.2	-	16	3806	c.3098T>A	c.(3097-3099)aTc>aAc	p.I1033N	TNR_ENST00000263525.2_Missense_Mutation_p.I1033N			Q92752	TENR_HUMAN	tenascin R	1033	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GTTGGTGCTGATGGTGCCACT	0.498																																						ENST00000367674.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(3097-3099)aTc>aAc		tenascin R							261.0	224.0	237.0					1																	175325475		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175325475A>T	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3098T>A	1.37:g.175325475A>T	ENSP00000356646:p.Ile1033Asn					TNR_ENST00000263525.2_Missense_Mutation_p.I1033N	p.I1033N	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			16	3806	-	Renal(580;0.146)		1033			Fibronectin type-III 8.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.3098T>A	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.453076	0.84209	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.52754	0.65;0.65	5.5	5.5	0.81552	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.258491	0.38897	N	0.001523	T	0.50429	0.1615	M	0.68317	2.08	0.50313	D	0.999865	P	0.39480	0.675	B	0.39617	0.305	T	0.57254	-0.7843	10	0.72032	D	0.01	.	15.2747	0.73732	1.0:0.0:0.0:0.0	.	1033	Q92752	TENR_HUMAN	N	1033;1033;943	ENSP00000356646:I1033N;ENSP00000263525:I1033N	ENSP00000263525:I1033N	I	-	2	0	TNR	173592098	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.832000	0.92079	2.085000	0.62840	0.533000	0.62120	ATC		0.498	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		30	164	0	0	0	1	0	30	164				
FAM86DP	692099	broad.mit.edu	37	3	75475709	75475709	+	RNA	SNP	T	T	C			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr3:75475709T>C	ENST00000459803.1	-	0	820					NR_024241.1				family with sequence similarity 86, member D, pseudogene									p.I261V(1)									CTCCGCAGGATCCCGACCAGC	0.562																																						ENST00000459803.1																			1	Substitution - Missense(1)	p.I261V(1)	kidney(1)																																																0							g.chr3:75475709T>C	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75475709T>C								NR_024241.1						0	820	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.562	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		3	77	0	0	0	1	0	3	77				
KCNA4	3739	broad.mit.edu	37	11	30033580	30033580	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr11:30033580G>A	ENST00000328224.6	-	2	1879	c.646C>T	c.(646-648)Cgc>Tgc	p.R216C	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	216					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	TACTCATTGCGCAAAGGGTCA	0.483																																						ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(646-648)Cgc>Tgc		potassium voltage-gated channel, shaker-related subfamily, member 4							70.0	65.0	67.0					11																	30033580		1864	4109	5973	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033580G>A	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.646C>T	11.37:g.30033580G>A	ENSP00000328511:p.Arg216Cys						p.R216C	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	1879	-			216						Missense_Mutation	SNP	ENST00000328224.6	37	c.646C>T	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.971813	0.53614	.	.	ENSG00000182255	ENST00000328224	T	0.77489	-1.1	4.94	4.94	0.65067	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.85703	0.5758	M	0.86573	2.825	0.80722	D	1	D	0.76494	0.999	P	0.54590	0.756	D	0.88342	0.2975	10	0.87932	D	0	.	12.4793	0.55833	0.0:0.0:0.7169:0.283	.	216	P22459	KCNA4_HUMAN	C	216	ENSP00000328511:R216C	ENSP00000328511:R216C	R	-	1	0	KCNA4	29990156	1.000000	0.71417	0.998000	0.56505	0.927000	0.56198	2.587000	0.46128	2.297000	0.77311	0.655000	0.94253	CGC		0.483	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		4	101	0	0	0	1	0	4	101				
WASH6P	653440	broad.mit.edu	37	X	155255062	155255062	+	RNA	SNP	C	C	G			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chrX:155255062C>G	ENST00000461007.1	+	0	3978				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										CACCTTCCCCCCCAGACCCAG	0.627																																						ENST00000285718.7																			0																																																			0							g.chrX:155255062C>G	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155255062C>G						WASH6P_ENST00000461007.1_RNA								0	1367	+								A6NGF1|Q8N305	RNA	SNP	ENST00000461007.1	37																																																																																						0.627	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380		3	85	0	0	0	1	0	3	85				
TNIP1	10318	broad.mit.edu	37	5	150411907	150411907	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr5:150411907C>T	ENST00000389378.2	-	17	2405	c.1817G>A	c.(1816-1818)cGa>cAa	p.R606Q	TNIP1_ENST00000522226.1_Missense_Mutation_p.R606Q|TNIP1_ENST00000523200.1_Missense_Mutation_p.R542Q|TNIP1_ENST00000518977.1_Missense_Mutation_p.R606Q|TNIP1_ENST00000523338.1_Missense_Mutation_p.R606Q|TNIP1_ENST00000524280.1_Intron|TNIP1_ENST00000520931.1_Missense_Mutation_p.R553Q|TNIP1_ENST00000521591.1_Missense_Mutation_p.R606Q|TNIP1_ENST00000521423.1_5'UTR|TNIP1_ENST00000315050.7_Missense_Mutation_p.R606Q	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	606	Pro-rich.				defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)	p.R606Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTTGGATTTCGAACCCCTCC	0.512																																						ENST00000389378.2																			1	Substitution - Missense(1)	p.R606Q(1)	ovary(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23						c.(1816-1818)cGa>cAa		TNFAIP3 interacting protein 1							93.0	87.0	89.0					5																	150411907		2203	4300	6503	SO:0001583	missense	10318				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding	g.chr5:150411907C>T	AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"""virion-associated nuclear-shuttling protein"", ""Nef-associated factor 1 SNP"""	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025		ENST00000389378.2:c.1817G>A	5.37:g.150411907C>T	ENSP00000374029:p.Arg606Gln					TNIP1_ENST00000518977.1_Missense_Mutation_p.R606Q|TNIP1_ENST00000521423.1_5'UTR|TNIP1_ENST00000521591.1_Missense_Mutation_p.R606Q|TNIP1_ENST00000523200.1_Missense_Mutation_p.R542Q|TNIP1_ENST00000315050.7_Missense_Mutation_p.R606Q|TNIP1_ENST00000524280.1_Intron|TNIP1_ENST00000522226.1_Missense_Mutation_p.R606Q|TNIP1_ENST00000523338.1_Missense_Mutation_p.R606Q|TNIP1_ENST00000520931.1_Missense_Mutation_p.R553Q	p.R606Q	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		17	2405	-		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	606			Pro-rich.		A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Missense_Mutation	SNP	ENST00000389378.2	37	c.1817G>A	CCDS34280.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.339004	0.24253	.	.	ENSG00000145901	ENST00000520931;ENST00000389378;ENST00000315050;ENST00000523338;ENST00000417127;ENST00000539213;ENST00000522226;ENST00000521591;ENST00000518977;ENST00000523200	T;T;T;T;T;T;T;T	0.15139	2.45;2.47;2.47;2.51;2.47;2.47;2.51;2.55	3.83	2.06	0.26882	.	0.134223	0.48286	D	0.000194	T	0.17195	0.0413	L	0.54323	1.7	0.18873	N	0.999987	P;B;B;B	0.47302	0.893;0.221;0.293;0.293	B;B;B;B	0.43360	0.417;0.082;0.03;0.03	T	0.08106	-1.0738	10	0.56958	D	0.05	-6.5299	7.9534	0.30027	0.0:0.7997:0.0:0.2003	.	496;542;606;606	A4F1X7;E7ET96;A4F1W9;Q15025	.;.;.;TNIP1_HUMAN	Q	553;606;606;606;499;568;606;606;606;542	ENSP00000429891:R553Q;ENSP00000374029:R606Q;ENSP00000317891:R606Q;ENSP00000428243:R606Q;ENSP00000428187:R606Q;ENSP00000430760:R606Q;ENSP00000430971:R606Q;ENSP00000431105:R542Q	ENSP00000317891:R606Q	R	-	2	0	TNIP1	150392100	0.055000	0.20627	0.115000	0.21578	0.280000	0.26924	0.310000	0.19356	0.594000	0.29761	0.561000	0.74099	CGA		0.512	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	NM_006058		3	58	0	0	0	1	0	3	58				
ADAMTS7	11173	broad.mit.edu	37	15	79056079	79056079	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr15:79056079G>T	ENST00000388820.4	-	22	4912	c.4702C>A	c.(4702-4704)Cac>Aac	p.H1568N		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1568					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GTGCAGGGGTGGGTGTTGCAG	0.711																																						ENST00000388820.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(4702-4704)Cac>Aac		ADAM metallopeptidase with thrombospondin type 1 motif, 7							9.0	11.0	11.0					15																	79056079		2109	4154	6263	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79056079G>T	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.4702C>A	15.37:g.79056079G>T	ENSP00000373472:p.His1568Asn						p.H1568N	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			22	4912	-			1568					Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.4702C>A	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	g	18.46	3.628806	0.67015	.	.	ENSG00000136378	ENST00000388820	T	0.52754	0.65	4.42	4.42	0.53409	.	0.201008	0.43260	D	0.000593	T	0.47229	0.1434	L	0.33245	0.995	0.45733	D	0.99863	P	0.48998	0.918	P	0.49477	0.612	T	0.50466	-0.8825	10	0.52906	T	0.07	.	15.5879	0.76499	0.0:0.0:1.0:0.0	.	1568	Q9UKP4	ATS7_HUMAN	N	1568	ENSP00000373472:H1568N	ENSP00000373472:H1568N	H	-	1	0	ADAMTS7	76843134	1.000000	0.71417	0.997000	0.53966	0.604000	0.37047	7.237000	0.78164	1.985000	0.57927	0.574000	0.79327	CAC		0.711	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		3	32	1	0	1	1	1	3	32				
LOH12CR1	118426	broad.mit.edu	37	12	12514275	12514275	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr12:12514275T>C	ENST00000314565.4	+	2	525	c.194T>C	c.(193-195)cTt>cCt	p.L65P	LOH12CR1_ENST00000298571.6_Intron|LOH12CR1_ENST00000542728.1_Missense_Mutation_p.L46P	NM_058169.3	NP_477517.1	Q969J3	L12R1_HUMAN	loss of heterozygosity, 12, chromosomal region 1	65										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		TTCCAGCCCCTTTTGAAAGGT	0.468																																						ENST00000314565.4																			0				kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(193-195)cTt>cCt		loss of heterozygosity, 12, chromosomal region 1							163.0	153.0	156.0					12																	12514275		2203	4300	6503	SO:0001583	missense	118426							g.chr12:12514275T>C	AY037865	CCDS8649.1, CCDS73448.1	12p12	2008-07-03			ENSG00000165714	ENSG00000165714			17950	protein-coding gene	gene with protein product						11896457, 15284860	Standard	XR_242885		Approved	LOH1CR12	uc001ral.2	Q969J3	OTTHUMG00000168542	ENST00000314565.4:c.194T>C	12.37:g.12514275T>C	ENSP00000321546:p.Leu65Pro					LOH12CR1_ENST00000298571.6_Intron|LOH12CR1_ENST00000542728.1_Missense_Mutation_p.L46P	p.L65P	NM_058169.3	NP_477517.1	Q969J3	L12R1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0205)	2	525	+		Prostate(47;0.0802)	65					Q96QS5	Missense_Mutation	SNP	ENST00000314565.4	37	c.194T>C	CCDS8649.1	.	.	.	.	.	.	.	.	.	.	T	19.14	3.769467	0.69992	.	.	ENSG00000165714	ENST00000542728;ENST00000314565	T;T	0.52295	0.67;0.67	6.02	6.02	0.97574	.	0.115240	0.64402	D	0.000012	T	0.59851	0.2224	L	0.40543	1.245	0.80722	D	1	D	0.67145	0.996	D	0.64877	0.93	T	0.62338	-0.6875	10	0.87932	D	0	-11.2834	16.2181	0.82241	0.0:0.0:0.0:1.0	.	65	Q969J3	L12R1_HUMAN	P	46;65	ENSP00000443023:L46P;ENSP00000321546:L65P	ENSP00000321546:L65P	L	+	2	0	LOH12CR1	12405542	1.000000	0.71417	1.000000	0.80357	0.468000	0.32798	7.602000	0.82796	2.311000	0.77944	0.533000	0.62120	CTT		0.468	LOH12CR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400150.1			3	153	0	0	0	1	0	3	153				
WASH6P	653440	broad.mit.edu	37	X	155255043	155255043	+	RNA	SNP	G	G	A			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chrX:155255043G>A	ENST00000461007.1	+	0	3959				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										ATCCTAGGGGGCTCCATGACA	0.642																																						ENST00000285718.7																			0																																																			0							g.chrX:155255043G>A	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155255043G>A						WASH6P_ENST00000461007.1_RNA								0	1348	+								A6NGF1|Q8N305	RNA	SNP	ENST00000461007.1	37																																																																																						0.642	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380		4	79	0	0	0	1	0	4	79				
PCDHB14	56122	broad.mit.edu	37	5	140603736	140603736	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr5:140603736C>A	ENST00000239449.4	+	1	659	c.659C>A	c.(658-660)cCg>cAg	p.P220Q	PCDHB14_ENST00000515856.2_Missense_Mutation_p.P67Q	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	220	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGATCCCCGCCCAAGTCT	0.478																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(658-660)cCg>cAg									65.0	67.0	67.0					5																	140603736		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140603736C>A	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.659C>A	5.37:g.140603736C>A	ENSP00000239449:p.Pro220Gln					PCDHB14_ENST00000515856.2_Missense_Mutation_p.P67Q	p.P220Q	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	659	+			220			Cadherin 2.		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.659C>A	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	17.61	3.432767	0.62844	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.55588	0.51;0.51	4.75	3.87	0.44632	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.83436	0.5254	H	0.99130	4.44	0.43073	D	0.99471	D	0.89917	1.0	D	0.87578	0.998	D	0.90157	0.4225	9	0.87932	D	0	.	14.152	0.65392	0.1514:0.8486:0.0:0.0	.	220	Q9Y5E9	PCDBE_HUMAN	Q	67;220	ENSP00000444518:P67Q;ENSP00000239449:P220Q	ENSP00000239449:P220Q	P	+	2	0	PCDHB14	140583920	1.000000	0.71417	0.529000	0.27951	0.980000	0.70556	7.445000	0.80570	1.107000	0.41642	0.655000	0.94253	CCG		0.478	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		3	122	1	0	1	1	1	3	122				
HCCS	3052	broad.mit.edu	37	X	11139095	11139095	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chrX:11139095G>A	ENST00000321143.4	+	6	792	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	HCCS_ENST00000380763.3_Missense_Mutation_p.R197Q|ARHGAP6_ENST00000534860.1_Intron|HCCS_ENST00000380762.4_Missense_Mutation_p.R197Q	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	197					organ morphogenesis (GO:0009887)|oxidation-reduction process (GO:0055114)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	holocytochrome-c synthase activity (GO:0004408)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)	7						CCAAGGGCACGAATTCGTTCC	0.453																																					Ovarian(86;1338 1347 1462 10340 37882)	ENST00000321143.4																			0				kidney(1)|large_intestine(3)|lung(3)	7						c.(589-591)cGa>cAa		holocytochrome c synthase							196.0	176.0	183.0					X																	11139095		2203	4300	6503	SO:0001583	missense	3052				organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding	g.chrX:11139095G>A		CCDS14139.1	Xp22	2014-01-31	2010-05-11		ENSG00000004961	ENSG00000004961	4.4.1.17		4837	protein-coding gene	gene with protein product	"""cytochrome c heme-lyase"""	300056	"""holocytochrome c synthase (cytochrome c heme-lyase)"", ""microphthalamia with linear skin defects"""	MLS		8364577, 12444108	Standard	NM_001122608		Approved	CCHL	uc004cuj.3	P53701	OTTHUMG00000021128	ENST00000321143.4:c.590G>A	X.37:g.11139095G>A	ENSP00000326579:p.Arg197Gln					HCCS_ENST00000380763.3_Missense_Mutation_p.R197Q|ARHGAP6_ENST00000534860.1_Intron|HCCS_ENST00000380762.4_Missense_Mutation_p.R197Q	p.R197Q	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN			6	792	+			197					B3KUS1|Q502X8	Missense_Mutation	SNP	ENST00000321143.4	37	c.590G>A	CCDS14139.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.915362	0.73098	.	.	ENSG00000004961	ENST00000321143;ENST00000380763;ENST00000380762	D;D;D	0.83335	-1.71;-1.71;-1.71	5.94	4.17	0.49024	.	0.085015	0.85682	D	0.000000	D	0.86711	0.5998	M	0.79123	2.44	0.80722	D	1	D	0.56746	0.977	P	0.54629	0.757	D	0.86340	0.1704	10	0.51188	T	0.08	-15.4568	9.0573	0.36414	0.1789:0.0:0.8211:0.0	.	197	P53701	CCHL_HUMAN	Q	197	ENSP00000326579:R197Q;ENSP00000370140:R197Q;ENSP00000370139:R197Q	ENSP00000326579:R197Q	R	+	2	0	HCCS	11049016	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	6.123000	0.71614	1.271000	0.44313	0.600000	0.82982	CGA		0.453	HCCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055742.1			11	244	0	0	0	1	0	11	244				
ARHGAP21	57584	broad.mit.edu	37	10	24874711	24874711	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr10:24874711G>A	ENST00000396432.2	-	26	4993	c.4507C>T	c.(4507-4509)Ccc>Tcc	p.P1503S		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1502					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GGTGGTGAGGGTTCTTCAGAA	0.473																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(4507-4509)Ccc>Tcc		Rho GTPase activating protein 21							300.0	261.0	274.0					10																	24874711		2203	4300	6503	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24874711G>A	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.4507C>T	10.37:g.24874711G>A	ENSP00000379709:p.Pro1503Ser						p.P1503S	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			26	4993	-			1502					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.4507C>T	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	11.79	1.742950	0.30865	.	.	ENSG00000107863	ENST00000396432;ENST00000447364	T	0.10382	2.88	4.83	1.82	0.25136	.	0.606910	0.17959	N	0.156254	T	0.07007	0.0178	L	0.41824	1.3	0.09310	N	1	B	0.19706	0.038	B	0.17433	0.018	T	0.41052	-0.9530	10	0.16896	T	0.51	.	2.9595	0.05888	0.149:0.2588:0.4592:0.133	.	1502	Q5T5U3	RHG21_HUMAN	S	1503;952	ENSP00000379709:P1503S	ENSP00000379709:P1503S	P	-	1	0	ARHGAP21	24914717	0.993000	0.37304	0.001000	0.08648	0.052000	0.14988	1.400000	0.34577	0.077000	0.16863	0.591000	0.81541	CCC		0.473	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		4	236	0	0	0	1	0	4	236				
RPTN	126638	broad.mit.edu	37	1	152128617	152128617	+	Missense_Mutation	SNP	T	T	C	rs12117644		TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr1:152128617T>C	ENST00000316073.3	-	3	1022	c.958A>G	c.(958-960)Agt>Ggt	p.S320G		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	320	Gln-rich.		S -> G (in dbSNP:rs12117644).			cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TCCGTCTGACTGTAGTGGGAA	0.507																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(958-960)Agt>Ggt		repetin							740.0	647.0	675.0					1																	152128617		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128617T>C	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.958A>G	1.37:g.152128617T>C	ENSP00000317895:p.Ser320Gly						p.S320G	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1022	-			320		S -> G (in dbSNP:rs12117644).	Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.958A>G	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	t	0.018	-1.477684	0.01035	.	.	ENSG00000215853	ENST00000316073	T	0.10960	2.82	4.03	-0.201	0.13212	.	0.515229	0.14305	N	0.328061	T	0.00695	0.0023	N	0.01454	-0.855	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.46498	-0.9187	10	0.02654	T	1	.	7.482	0.27411	0.0:0.4802:0.0:0.5198	rs12117644	320	Q6XPR3	RPTN_HUMAN	G	320	ENSP00000317895:S320G	ENSP00000317895:S320G	S	-	1	0	RPTN	150395241	0.000000	0.05858	0.005000	0.12908	0.009000	0.06853	-0.125000	0.10579	0.045000	0.15804	-0.565000	0.04167	AGT		0.507	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		8	937	0	0	0	1	0	8	937				
MYO15A	51168	broad.mit.edu	37	17	18029723	18029723	+	Silent	SNP	G	G	A	rs577577209		TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr17:18029723G>A	ENST00000205890.5	+	5	4157	c.3819G>A	c.(3817-3819)ccG>ccA	p.P1273P		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1273	Myosin motor.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCTATGGGCCGGAGCAGGTGC	0.622																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(3817-3819)ccG>ccA		myosin XVA							66.0	72.0	70.0					17																	18029723		2050	4193	6243	SO:0001819	synonymous_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18029723G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.3819G>A	17.37:g.18029723G>A							p.P1273P	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			5	4157	+	all_neural(463;0.228)		1273			Myosin head-like.		B4DFC7	Silent	SNP	ENST00000205890.5	37	c.3819G>A	CCDS42271.1																																																																																				0.622	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		3	88	0	0	0	1	0	3	88				
ZNF211	10520	broad.mit.edu	37	19	58152518	58152518	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr19:58152518T>C	ENST00000347302.3	+	3	843	c.664T>C	c.(664-666)Ttt>Ctt	p.F222L	ZNF211_ENST00000544273.1_Missense_Mutation_p.F234L|ZNF211_ENST00000541801.1_Missense_Mutation_p.F213L|ZNF211_ENST00000420680.1_Missense_Mutation_p.F226L|ZNF211_ENST00000299871.5_Missense_Mutation_p.F287L|ZNF211_ENST00000254182.7_Missense_Mutation_p.F213L|ZNF211_ENST00000240731.4_Missense_Mutation_p.F235L|ZNF211_ENST00000391703.3_Missense_Mutation_p.F161L	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	222					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGCGGTGGCCTTTTACAGTGG	0.468																																						ENST00000544273.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(700-702)Ttt>Ctt		zinc finger protein 211							64.0	65.0	65.0					19																	58152518		2203	4300	6503	SO:0001583	missense	0					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58152518T>C	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.664T>C	19.37:g.58152518T>C	ENSP00000339562:p.Phe222Leu					ZNF211_ENST00000420680.1_Missense_Mutation_p.F226L|ZNF211_ENST00000391703.3_Missense_Mutation_p.F161L|ZNF211_ENST00000347302.3_Missense_Mutation_p.F222L|ZNF211_ENST00000541801.1_Missense_Mutation_p.F213L|ZNF211_ENST00000254182.7_Missense_Mutation_p.F213L|ZNF211_ENST00000240731.4_Missense_Mutation_p.F235L|ZNF211_ENST00000299871.5_Missense_Mutation_p.F287L	p.F234L			Q13398	ZN211_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1027	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	222					B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	ENST00000347302.3	37	c.700T>C	CCDS12957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.61|12.61	1.990381|1.990381	0.35131|0.35131	.|.	.|.	ENSG00000121417|ENSG00000121417	ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731|ENST00000407202	T;T;T;T;T;T;T;T|.	0.46063|.	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88|.	3.24|3.24	1.12|1.12	0.20585|0.20585	.|.	.|.	.|.	.|.	.|.	T|T	0.53690|0.53690	0.1812|0.1812	M|M	0.77406|0.77406	2.37|2.37	0.09310|0.09310	N|N	1|1	B;B;P;B;B;B|.	0.47106|.	0.005;0.023;0.89;0.2;0.014;0.014|.	B;B;P;B;B;B|.	0.45881|.	0.002;0.01;0.496;0.069;0.004;0.004|.	T|T	0.46707|0.46707	-0.9172|-0.9172	9|5	0.62326|.	D|.	0.03|.	.|.	7.1857|7.1857	0.25799|0.25799	0.0:0.2075:0.0:0.7925|0.0:0.2075:0.0:0.7925	.|.	226;234;287;213;222;235|.	Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1|.	.;.;.;.;ZN211_HUMAN;.|.	L|P	226;222;213;161;213;287;234;235|225	ENSP00000399193:F226L;ENSP00000339562:F222L;ENSP00000254182:F213L;ENSP00000375584:F161L;ENSP00000442601:F213L;ENSP00000299871:F287L;ENSP00000441386:F234L;ENSP00000240731:F235L|.	ENSP00000240731:F235L|.	F|L	+|+	1|2	0|0	ZNF211|ZNF211	62844330|62844330	.|.	.|.	0.000000|0.000000	0.03702|0.03702	0.023000|0.023000	0.10783|0.10783	.|.	.|.	0.175000|0.175000	0.19841|0.19841	0.482000|0.482000	0.46254|0.46254	TTT|CTT		0.468	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			3	97	0	0	0	1	0	3	97				
RIPK4	54101	broad.mit.edu	37	21	43161491	43161491	+	Missense_Mutation	SNP	C	C	T	rs56056485		TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr21:43161491C>T	ENST00000352483.2	-	9	2070	c.2006G>A	c.(2005-2007)cGc>cAc	p.R669H	RIPK4_ENST00000544709.1_Missense_Mutation_p.R558H|RIPK4_ENST00000332512.3_Missense_Mutation_p.R621H|RIPK4_ENST00000542057.1_Missense_Mutation_p.R558H|AP001615.9_ENST00000423276.1_RNA			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	669			R -> H. {ECO:0000269|PubMed:17344846}.		morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GATGAGGATGCGGGCCACGCG	0.692																																						ENST00000352483.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(2005-2007)cGc>cAc		receptor-interacting serine-threonine kinase 4		C	HIS/ARG	2,4402	4.2+/-10.8	0,2,2200	57.0	59.0	59.0		1862	4.9	1.0	21	dbSNP_129	59	1,8595	1.2+/-3.3	0,1,4297	no	missense	RIPK4	NM_020639.2	29	0,3,6497	TT,TC,CC		0.0116,0.0454,0.0231	possibly-damaging	621/785	43161491	3,12997	2202	4298	6500	SO:0001583	missense	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161491C>T	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.2006G>A	21.37:g.43161491C>T	ENSP00000330161:p.Arg669His					RIPK4_ENST00000544709.1_Missense_Mutation_p.R558H|RIPK4_ENST00000542057.1_Missense_Mutation_p.R558H|RIPK4_ENST00000332512.3_Missense_Mutation_p.R621H	p.R669H			Q96T11	Q96T11_HUMAN			9	2070	-			621					Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	37	c.2006G>A		.	.	.	.	.	.	.	.	.	.	C	25.8	4.674371	0.88445	4.54E-4	1.16E-4	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	T;T;T;T	0.65732	-0.16;-0.17;2.36;2.36	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000007	T	0.78000	0.4215	M	0.67700	2.07	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.80728	-0.1253	10	0.72032	D	0.01	-42.4601	17.1066	0.86665	0.0:1.0:0.0:0.0	rs56056485	621	P57078-2	.	H	621;669;558;558	ENSP00000332454:R621H;ENSP00000330161:R669H;ENSP00000441754:R558H;ENSP00000442901:R558H	ENSP00000332454:R621H	R	-	2	0	RIPK4	42034560	1.000000	0.71417	0.952000	0.39060	0.902000	0.53008	5.554000	0.67294	2.261000	0.74972	0.655000	0.94253	CGC		0.692	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		4	231	0	0	0	1	0	4	231				
KIAA0430	9665	broad.mit.edu	37	16	15710963	15710963	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr16:15710963G>A	ENST00000396368.3	-	15	3229	c.3023C>T	c.(3022-3024)gCg>gTg	p.A1008V	KIAA0430_ENST00000344181.3_Intron|KIAA0430_ENST00000540441.2_Missense_Mutation_p.A843V|KIAA0430_ENST00000548025.1_Missense_Mutation_p.A1005V|KIAA0430_ENST00000602337.1_Missense_Mutation_p.A1005V|KIAA0430_ENST00000551742.1_Missense_Mutation_p.A1008V	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1008	HTH OST-type 2. {ECO:0000255|PROSITE- ProRule:PRU00975}.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						AACCTGGGGCGCAAATGTCTT	0.438																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(3022-3024)gCg>gTg		KIAA0430							103.0	101.0	102.0					16																	15710963		1871	4109	5980	SO:0001583	missense	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15710963G>A	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.3023C>T	16.37:g.15710963G>A	ENSP00000379654:p.Ala1008Val					KIAA0430_ENST00000540441.2_Missense_Mutation_p.A843V|KIAA0430_ENST00000344181.3_Intron|KIAA0430_ENST00000602337.1_Missense_Mutation_p.A1005V|KIAA0430_ENST00000551742.1_Missense_Mutation_p.A1008V|KIAA0430_ENST00000548025.1_Missense_Mutation_p.A1005V	p.A1008V	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			15	3229	-			1007					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	c.3023C>T	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699770	0.88924	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000548025;ENST00000551742	.	.	.	5.47	5.47	0.80525	.	0.056669	0.64402	D	0.000001	T	0.57917	0.2086	L	0.59436	1.845	0.80722	D	1	P;P;P;P	0.46656	0.854;0.882;0.882;0.772	B;B;B;B	0.40782	0.195;0.34;0.34;0.096	T	0.61307	-0.7089	9	0.44086	T	0.13	.	19.3392	0.94335	0.0:0.0:1.0:0.0	.	1007;1005;1004;1007	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	V	1008;843;1007;1005;1008	.	ENSP00000315718:A1007V	A	-	2	0	KIAA0430	15618464	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	5.974000	0.70465	2.568000	0.86640	0.561000	0.74099	GCG		0.438	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		3	68	0	0	0	1	0	3	68				
RBM10	8241	broad.mit.edu	37	X	47030582	47030582	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chrX:47030582G>T	ENST00000377604.3	+	4	1099	c.357G>T	c.(355-357)gaG>gaT	p.E119D	RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						aggaggaggaggatgaggagg	0.662																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(355-357)gaG>gaT		RNA binding motif protein 10							20.0	19.0	19.0					X																	47030582		2202	4294	6496	SO:0001583	missense	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47030582G>T	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.357G>T	X.37:g.47030582G>T	ENSP00000366829:p.Glu119Asp					RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron	p.E119D	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN			4	1099	+			119			Poly-Glu.		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	37	c.357G>T	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	7.514	0.655267	0.14580	.	.	ENSG00000182872	ENST00000377604	T	0.11169	2.8	3.1	1.15	0.20763	Nucleotide-binding, alpha-beta plait (1);	0.859005	0.09469	N	0.797951	T	0.04815	0.0130	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.38628	-0.9652	10	0.11182	T	0.66	-1.7872	6.9396	0.24486	0.0:0.0:0.4873:0.5127	.	184;119;119	Q7Z3D7;P98175-2;P98175	.;.;RBM10_HUMAN	D	119	ENSP00000366829:E119D	ENSP00000366829:E119D	E	+	3	2	RBM10	46915526	1.000000	0.71417	0.776000	0.31678	0.914000	0.54420	0.961000	0.29267	0.165000	0.19558	0.502000	0.49764	GAG		0.662	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		3	36	1	0	0.115264	1	0.128824	3	36				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		43	59	0	0	0	1	0	43	59				
NACA	4666	broad.mit.edu	37	12	57111705	57111705	+	Silent	SNP	G	G	A	rs2926746		TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr12:57111705G>A	ENST00000454682.1	-	3	3890	c.3609C>T	c.(3607-3609)ccC>ccT	p.P1203P	NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1203	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTTGGGGAGGGAGGAGTTG	0.642			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3607-3609)ccC>ccT		nascent polypeptide-associated complex alpha subunit							64.0	76.0	73.0					12																	57111705		1233	2868	4101	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111705G>A	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3609C>T	12.37:g.57111705G>A						NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron	p.P1203P	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3890	-			0						Silent	SNP	ENST00000454682.1	37	c.3609C>T																																																																																					0.642	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		4	148	0	0	0	1	0	4	148				
MATN3	4148	broad.mit.edu	37	2	20205863	20205863	+	Silent	SNP	C	C	T			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr2:20205863C>T	ENST00000407540.3	-	2	494	c.432G>A	c.(430-432)caG>caA	p.Q144Q	MATN3_ENST00000421259.2_Silent_p.Q144Q|AC079145.4_ENST00000416575.1_RNA	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	144	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTTCAGGGACTGCTTATCTG	0.567																																						ENST00000407540.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13						c.(430-432)caG>caA		matrilin 3							66.0	72.0	70.0					2																	20205863		2097	4227	6324	SO:0001819	synonymous_variant	4148				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr2:20205863C>T	AJ001047	CCDS46226.1	2p24-p23	2008-06-03			ENSG00000132031	ENSG00000132031			6909	protein-coding gene	gene with protein product		602109				9287130, 9350998	Standard	NM_002381		Approved	EDM5, HOA	uc002rdl.3	O15232	OTTHUMG00000151788	ENST00000407540.3:c.432G>A	2.37:g.20205863C>T						MATN3_ENST00000421259.2_Silent_p.Q144Q	p.Q144Q	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN			2	494	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		144			VWFA.		B2CPU0|Q4ZG02	Silent	SNP	ENST00000407540.3	37	c.432G>A	CCDS46226.1																																																																																				0.567	MATN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323925.1	NM_002381		3	108	0	0	0	1	0	3	108				
GNAS	2778	broad.mit.edu	37	20	57429071	57429071	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr20:57429071G>C	ENST00000371100.4	+	1	1303	c.751G>C	c.(751-753)Ggc>Cgc	p.G251R	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.G251R|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.G251R|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000306120.3_Silent_p.T187T	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			ACAAGTCGACGGCAGCAGCCA	0.677			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000371100.4				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""	E			pituitary adenoma		0				adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(751-753)Ggc>Cgc		GNAS complex locus							10.0	12.0	11.0					20																	57429071		1813	3983	5796	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57429071G>C	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.751G>C	20.37:g.57429071G>C	ENSP00000360141:p.Gly251Arg	TSP Lung(22;0.16)				GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.G251R|GNAS_ENST00000371102.4_Missense_Mutation_p.G251R|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000306120.3_Silent_p.T187T|GNAS_ENST00000603534.1_Intron	p.G251R	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	1303	+	all_lung(29;0.0104)		0					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371100.4	37	c.751G>C	CCDS46622.1	.	.	.	.	.	.	.	.	.	.	G	1.121	-0.655164	0.03480	.	.	ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102	D;D	0.88664	-2.41;-2.41	3.85	-4.71	0.03279	.	29.331100	0.00166	N	0.000000	T	0.75019	0.3793	N	0.19112	0.55	0.09310	N	1	P	0.49862	0.929	B	0.40702	0.338	T	0.70916	-0.4742	10	0.16420	T	0.52	.	0.2707	0.00231	0.3454:0.1391:0.2327:0.2827	.	251	Q5JWF2	GNAS1_HUMAN	R	251	ENSP00000360141:G251R;ENSP00000360143:G251R	ENSP00000360140:G251R	G	+	1	0	GNAS	56862466	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.288000	0.02783	-0.898000	0.03906	-0.218000	0.12543	GGC		0.677	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3	NM_000516		15	14	0	0	0	1	0	15	14				
MYLK	4638	broad.mit.edu	37	3	123368043	123368044	+	Splice_Site	INS	-	-	G	rs41431347|rs200371896	byFrequency	TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr3:123368043_123368044insG	ENST00000475616.1	-	22	4288		c.e22-2		MYLK_ENST00000360772.3_Splice_Site|MYLK_ENST00000346322.5_Splice_Site|MYLK_ENST00000359169.1_Splice_Site|MYLK_ENST00000360304.3_Splice_Site|MYLK_ENST00000354792.5_Splice_Site			Q15746	MYLK_HUMAN	myosin light chain kinase						actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCTTCGGCTCTGGGGGGGGCAC	0.624													?|GGGGGGGG|GGGGGGGGG|unsure	129	0.0257588	0.034	0.0303	5008	,	,		18148	0.0089		0.0348	False		,,,				2504	0.0194					ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.e26-2		myosin light chain kinase																																				SO:0001630	splice_region_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123368043_123368044insG	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.4289-2->C	3.37:g.123368051_123368051dupG						MYLK_ENST00000475616.1_Splice_Site|MYLK_ENST00000359169.1_Splice_Site|MYLK_ENST00000346322.5_Splice_Site|MYLK_ENST00000360304.3_Splice_Site|MYLK_ENST00000354792.5_Splice_Site				Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	26	4667	-		Lung NSC(201;0.0496)						B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Splice_Site	INS	ENST00000475616.1	37		CCDS46896.1																																																																																				0.624	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025	Intron	7	194						7	194	---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85696234	85696235	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr4:85696234_85696235insT	ENST00000295888.4	-	28	4982_4983	c.4575_4576insA	c.(4573-4578)gaactgfs	p.L1526fs	WDFY3_ENST00000322366.6_Frame_Shift_Ins_p.L1526fs	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1526					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCTGTGAGCAGTTCAATAAAGT	0.297																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(4573-4578)gatgctfs		WD repeat and FYVE domain containing 3																																				SO:0001589	frameshift_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85696234_85696235insT	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.4576dupA	4.37:g.85696236_85696236dupT	ENSP00000295888:p.Leu1526fs					WDFY3_ENST00000295888.4_Frame_Shift_Ins_p.DA1525fs	p.DA1525fs			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	28	4982_4983	-		Hepatocellular(203;0.114)	1525					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Frame_Shift_Ins	INS	ENST00000295888.4	37	c.4575_4576insA	CCDS3609.1																																																																																				0.297	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		34	46						34	46	---	---	---	---
ADCY6	112	broad.mit.edu	37	12	49183367	49183367	+	5'Flank	DEL	G	G	-	rs10711161	byFrequency	TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr12:49183367delG	ENST00000550422.1	-	0	0				RP11-579D7.4_ENST00000549864.1_lincRNA	NM_020983.2	NP_066193.1	O43306	ADCY6_HUMAN	adenylate cyclase 6						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						ccctgccccagccccagcccc	0.657													?|G|-|unsure	2423	0.483826	0.3109	0.611	5008	,	,		4759	0.9048		0.3777	False		,,,				2504	0.3027					ENST00000549864.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr12:49183367delG		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306			12.37:g.49183367delG	Exception_encountered													0	9	+								Q9NR75|Q9UDB0	RNA	DEL	ENST00000550422.1	37		CCDS8768.1																																																																																				0.657	ADCY6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408862.1	NM_020983		4	3						4	3	---	---	---	---
RP5-963E22.4	0	broad.mit.edu	37	20	61798880	61798881	+	lincRNA	INS	-	-	C			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr20:61798880_61798881insC	ENST00000423020.1	-	0	188																											ccccacctcagcccctcctcag	0.703																																						ENST00000423020.1																			0																																																			0							g.chr20:61798880_61798881insC																													20.37:g.61798884_61798884dupC														0	188	-									RNA	INS	ENST00000423020.1	37																																																																																						0.703	RP5-963E22.4-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000276288.1			3	6						3	6	---	---	---	---
