#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
ARSF	416	broad.mit.edu	37	X	3002560	3002560	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chrX:3002560T>A	ENST00000381127.1	+	6	904	c.683T>A	c.(682-684)cTc>cAc	p.L228H	ARSF_ENST00000359361.2_Missense_Mutation_p.L228H|ARSF_ENST00000537104.1_Missense_Mutation_p.L228H	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	228					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTTATTTTCCTCTTGGGCTAT	0.547																																						uc022brz.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38						c.(682-684)cTc>cAc		Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.							138.0	115.0	123.0					X																	3002560		2203	4300	6503	SO:0001583	missense	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:3002560T>A	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.683T>A	X.37:g.3002560T>A	ENSP00000370519:p.Leu228His		Somatic				ARSF_uc004cre.2_Missense_Mutation_p.L228H|ARSF_uc004crf.2_Missense_Mutation_p.L228H	p.L228H	NM_001201538	NP_001188467	WXS	Illumina GAIIx	Phase_I	P54793	ARSF_HUMAN			5	819	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	228					Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	37	c.683T>A	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	T	13.04	2.119249	0.37436	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.94280	-3.39;-3.39;-3.39	3.44	2.16	0.27623	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.399027	0.17976	U	0.155702	D	0.95993	0.8695	M	0.90814	3.15	0.09310	N	1	D	0.65815	0.995	D	0.64776	0.929	D	0.88851	0.3319	10	0.33141	T	0.24	.	8.2243	0.31560	0.1801:0.0:0.0:0.8199	.	228	P54793	ARSF_HUMAN	H	228	ENSP00000370519:L228H;ENSP00000445594:L228H;ENSP00000352319:L228H	ENSP00000352319:L228H	L	+	2	0	ARSF	3012560	0.033000	0.19621	0.003000	0.11579	0.003000	0.03518	2.471000	0.45127	1.081000	0.41110	0.438000	0.28831	CTC		0.547	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			9	90	0	0	0	1	0	9	90				
GMDS	2762	broad.mit.edu	37	6	2117711	2117711	+	Missense_Mutation	SNP	A	A	G	rs369492511		TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr6:2117711A>G	ENST00000380815.4	-	3	496	c.227T>C	c.(226-228)aTt>aCt	p.I76T	GMDS_ENST00000530927.1_Missense_Mutation_p.I46T	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	76					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		ACTTCCTTCAATGTGAGCCTG	0.373																																						uc003mtq.3																		GMDS/PDE8B(2)	0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21						c.(226-228)aTt>aCt		Homo sapiens GDP-mannose 4,6-dehydratase (GMDS), transcript variant 1, mRNA.		A	THR/ILE	0,4406		0,0,2203	128.0	129.0	129.0		227	1.7	1.0	6		129	1,8599	1.2+/-3.3	0,1,4299	no	missense	GMDS	NM_001500.2	89	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	76/373	2117711	1,13005	2203	4300	6503	SO:0001583	missense	2762				'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		GDP-mannose 4,6-dehydratase activity|coenzyme binding	g.chr6:2117711A>G	AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	4369	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 3E, member 1"""	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.227T>C	6.37:g.2117711A>G	ENSP00000370194:p.Ile76Thr		Somatic				GMDS_uc021ykn.1_Missense_Mutation_p.I46T	p.I76T	NM_001500	NP_001491	WXS	Illumina GAIIx	Phase_I	O60547	GMDS_HUMAN		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)	2	439	-	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)	76					E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Missense_Mutation	SNP	ENST00000380815.4	37	c.227T>C	CCDS4474.1	.	.	.	.	.	.	.	.	.	.	A	7.364	0.625397	0.14257	0.0	1.16E-4	ENSG00000112699	ENST00000530927;ENST00000380815	.	.	.	5.41	1.7	0.24286	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.238504	0.40908	N	0.000987	T	0.10165	0.0249	N	0.08118	0	0.41904	D	0.990436	B	0.02656	0.0	B	0.11329	0.006	T	0.14420	-1.0473	9	0.12766	T	0.61	-14.6666	6.3923	0.21593	0.7268:0.1335:0.1397:0.0	.	76	O60547	GMDS_HUMAN	T	46;76	.	ENSP00000370194:I76T	I	-	2	0	GMDS	2062710	0.005000	0.15991	0.998000	0.56505	0.995000	0.86356	0.071000	0.14594	0.054000	0.16065	0.533000	0.62120	ATT		0.373	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043380.3			6	68	0	0	0	1	0	6	68				
OR1N2	138882	broad.mit.edu	37	9	125316381	125316381	+	Missense_Mutation	SNP	C	C	A	rs369499080		TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr9:125316381C>A	ENST00000373688.2	+	1	991	c.933C>A	c.(931-933)aaC>aaA	p.N311K		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						GCTTGAGGAACAGAGACATGA	0.403																																						uc011lyx.2																			0		p.R310R(2)		breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						c.(931-933)aaC>aaA		Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.							109.0	110.0	110.0					9																	125316381		2203	4300	6503	SO:0001583	missense	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125316381C>A		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"""GPCR / Class A : Olfactory receptors"""	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.933C>A	9.37:g.125316381C>A	ENSP00000362792:p.Asn311Lys		Somatic					p.N311K	NM_001004457	NP_001004457	WXS	Illumina GAIIx	Phase_I	Q8NGR9	OR1N2_HUMAN			0	933	+			311					A3KFM2|B2RNY4|Q6IF17|Q96RA3	Missense_Mutation	SNP	ENST00000373688.2	37	c.933C>A	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.074526	0.55646	.	.	ENSG00000171501	ENST00000373688	T	0.50001	0.76	4.56	1.68	0.24146	.	0.123171	0.35772	N	0.002985	T	0.73621	0.3610	H	0.96048	3.76	0.34714	D	0.728078	D	0.89917	1.0	D	0.87578	0.998	T	0.78700	-0.2102	10	0.87932	D	0	.	7.5228	0.27637	0.0:0.6463:0.0:0.3537	.	311	Q8NGR9	OR1N2_HUMAN	K	311	ENSP00000362792:N311K	ENSP00000362792:N311K	N	+	3	2	OR1N2	124356202	0.041000	0.20044	0.998000	0.56505	0.998000	0.95712	0.165000	0.16564	0.181000	0.19994	0.644000	0.83932	AAC		0.403	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			4	54	0	0	0	1	0	4	54				
TRIML1	339976	broad.mit.edu	37	4	189068456	189068456	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr4:189068456C>A	ENST00000332517.3	+	6	1477	c.1337C>A	c.(1336-1338)tCc>tAc	p.S446Y	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	446	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CCTATCTTTTCCCCCTGCCTC	0.562																																					Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1																			0		p.F445I(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(1336-1338)tCc>tAc		Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.							70.0	72.0	72.0					4																	189068456		2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189068456C>A	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.1337C>A	4.37:g.189068456C>A	ENSP00000327738:p.Ser446Tyr		Somatic				TRIML1_uc003izn.1_Missense_Mutation_p.S170Y	p.S446Y	NM_178556	NP_848651	WXS	Illumina GAIIx	Phase_I	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	5	1452	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	446			B30.2/SPRY.		Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.1337C>A	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	c	13.30	2.195996	0.38806	.	.	ENSG00000184108	ENST00000332517	T	0.70749	-0.51	5.58	4.73	0.59995	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.51477	D	0.000092	T	0.66025	0.2748	L	0.61218	1.895	0.37068	D	0.898406	B	0.24618	0.107	B	0.26770	0.073	T	0.64630	-0.6362	10	0.12430	T	0.62	-25.2532	13.961	0.64180	0.1529:0.8471:0.0:0.0	.	446	Q8N9V2	TRIML_HUMAN	Y	446	ENSP00000327738:S446Y	ENSP00000327738:S446Y	S	+	2	0	TRIML1	189305450	0.205000	0.23458	0.971000	0.41717	0.012000	0.07955	1.202000	0.32271	1.501000	0.48654	-0.194000	0.12790	TCC		0.562	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		9	94	0	0	0	1	0	9	94				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		44	37	0	0	0	1	0	44	37				
ZNF543	125919	broad.mit.edu	37	19	57835056	57835056	+	Missense_Mutation	SNP	G	G	T	rs540048310	byFrequency	TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr19:57835056G>T	ENST00000321545.4	+	2	370	c.25G>T	c.(25-27)Gtg>Ttg	p.V9L		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	9	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CCAGGTGTCTGTGACCTTTGA	0.488													g|||	2	0.000399361	0.0	0.0	5008	,	,		19727	0.002		0.0	False		,,,				2504	0.0					uc002qoi.2																			0				breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28						c.(25-27)Gtg>Ttg		Homo sapiens zinc finger protein 543 (ZNF543), mRNA.							156.0	144.0	148.0					19																	57835056		2203	4300	6503	SO:0001583	missense	125919				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57835056G>T	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.25G>T	19.37:g.57835056G>T	ENSP00000322545:p.Val9Leu		Somatic					p.V9L	NM_213598	NP_998763	WXS	Illumina GAIIx	Phase_I	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	1	382	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	9			KRAB.		Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	37	c.25G>T	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.429353	0.25726	.	.	ENSG00000178229	ENST00000321545	T	0.04862	3.54	1.68	0.608	0.17569	Krueppel-associated box (4);	.	.	.	.	T	0.05502	0.0145	L	0.45470	1.425	0.09310	N	0.999991	P	0.41475	0.751	B	0.36719	0.231	T	0.35773	-0.9775	9	0.36615	T	0.2	.	5.31	0.15825	0.3266:0.0:0.6734:0.0	.	9	Q08ER8	ZN543_HUMAN	L	9	ENSP00000322545:V9L	ENSP00000322545:V9L	V	+	1	0	ZNF543	62526868	0.626000	0.27120	0.083000	0.20561	0.890000	0.51754	0.936000	0.28938	0.258000	0.21686	0.467000	0.42956	GTG		0.488	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		4	154	0	0	0	1	0	4	154				
ATRX	546	broad.mit.edu	37	X	76939853	76939853	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chrX:76939853T>C	ENST00000373344.5	-	9	1109	c.895A>G	c.(895-897)Aaa>Gaa	p.K299E	ATRX_ENST00000395603.3_Missense_Mutation_p.K261E|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	299					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CTGTCAACTTTTATCTTCTTC	0.338			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.4				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(895-897)Aaa>Gaa		Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	Phosphatidylserine(DB00144)						127.0	118.0	121.0					X																	76939853		2203	4295	6498	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	g.chrX:76939853T>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.895A>G	X.37:g.76939853T>C	ENSP00000362441:p.Lys299Glu		Somatic				ATRX_uc004ecq.4_Missense_Mutation_p.K261E|ATRX_uc004eco.4_Missense_Mutation_p.K84E|ATRX_uc004ecr.2_Missense_Mutation_p.K260E|ATRX_uc010nlx.1_Missense_Mutation_p.K299E|ATRX_uc010nly.1_Missense_Mutation_p.K244E	p.K299E	NM_000489	NP_000480	WXS	Illumina GAIIx	Phase_I	P46100	ATRX_HUMAN			8	1127	-			299					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.895A>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	t	13.57	2.275325	0.40194	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.96396	-4.0;-4.0	5.5	5.5	0.81552	.	0.057962	0.64402	D	0.000002	D	0.97028	0.9029	L	0.49640	1.575	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.998;0.998	D;D;D;D	0.78314	0.98;0.98;0.991;0.986	D	0.96474	0.9351	10	0.33940	T	0.23	-17.1041	14.6147	0.68539	0.0:0.0:0.0:1.0	.	299;260;261;299	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	E	299;261;255	ENSP00000362441:K299E;ENSP00000378967:K261E	ENSP00000362441:K299E	K	-	1	0	ATRX	76826509	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.482000	0.53186	1.832000	0.53329	0.409000	0.27619	AAA		0.338	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		6	59	0	0	0	1	0	6	59				
SLC28A2	9153	broad.mit.edu	37	15	45545719	45545719	+	Splice_Site	SNP	G	G	C			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr15:45545719G>C	ENST00000347644.3	+	3	235		c.e3+1		CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000559003.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2						nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	CTTACCAGAGGTACTGGTGTT	0.522																																					NSCLC(92;493 1501 26361 28917 47116)	uc001zva.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26						c.e3+1		Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA.							64.0	60.0	61.0					15																	45545719		2198	4298	6496	SO:0001630	splice_region_variant	9153				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity	g.chr15:45545719G>C	U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"""Solute carriers"""	11002	protein-coding gene	gene with protein product		606208	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"""			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.170+1G>C	15.37:g.45545719G>C			Somatic					p.R57_splice	NM_004212	NP_004203	WXS	Illumina GAIIx	Phase_I	O43868	S28A2_HUMAN		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	3	235	+		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	57					A8K7F9|O43239|Q52LZ0	Splice_Site	SNP	ENST00000347644.3	37	c.170_splice	CCDS10121.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.959677	0.34565	.	.	ENSG00000137860	ENST00000347644	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.177	0.59633	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC28A2	43333011	0.995000	0.38212	0.711000	0.30485	0.008000	0.06430	3.525000	0.53502	2.472000	0.83506	0.462000	0.41574	.		0.522	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254219.2	NM_004212	Intron	3	17	0	0	0	1	0	3	17				
SLC6A20	54716	broad.mit.edu	37	3	45812903	45812903	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr3:45812903C>A	ENST00000358525.4	-	6	856	c.741G>T	c.(739-741)caG>caT	p.Q247H	SLC6A20_ENST00000353278.4_Missense_Mutation_p.Q210H|SLC6A20_ENST00000456124.2_Missense_Mutation_p.Q247H	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	247					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		AGAAGAAGATCTGGGTGGCTG	0.587																																						uc011bai.2																			0				breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13						c.(739-741)caG>caT		Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.							141.0	119.0	126.0					3																	45812903		2203	4300	6503	SO:0001583	missense	54716				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr3:45812903C>A	AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"""Solute carriers"""	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.741G>T	3.37:g.45812903C>A	ENSP00000346298:p.Gln247His		Somatic				SLC6A20_uc003cow.3_5'UTR|SLC6A20_uc011baj.2_Missense_Mutation_p.Q210H	p.Q247H	NM_020208	NP_064593	WXS	Illumina GAIIx	Phase_I	Q9NP91	S6A20_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)	5	865	-			247					A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Missense_Mutation	SNP	ENST00000358525.4	37	c.741G>T	CCDS43077.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.910872	0.72983	.	.	ENSG00000163817	ENST00000353278;ENST00000358525;ENST00000456124;ENST00000413781	D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58	5.05	3.24	0.37175	.	0.000000	0.85682	D	0.000000	D	0.91270	0.7248	M	0.92507	3.315	0.47862	D	0.999539	D;D	0.57899	0.976;0.981	D;D	0.69307	0.938;0.963	D	0.91132	0.4938	10	0.87932	D	0	.	8.2403	0.31656	0.0:0.7581:0.0:0.2419	.	210;247	Q9NP91-2;Q9NP91	.;S6A20_HUMAN	H	210;247;247;200	ENSP00000296133:Q210H;ENSP00000346298:Q247H;ENSP00000404310:Q247H;ENSP00000395506:Q200H	ENSP00000296133:Q210H	Q	-	3	2	SLC6A20	45787907	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.075000	0.57584	1.118000	0.41863	0.467000	0.42956	CAG		0.587	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	NM_020208		4	62	0	0	0	1	0	4	62				
SKIL	6498	broad.mit.edu	37	3	170078419	170078419	+	Silent	SNP	G	G	T			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr3:170078419G>T	ENST00000458537.3	+	1	1009	c.300G>T	c.(298-300)tcG>tcT	p.S100S	SKIL_ENST00000259119.4_Silent_p.S100S|SKIL_ENST00000413427.2_Silent_p.S100S|SKIL_ENST00000426052.2_Silent_p.S80S	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	100					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GTCAGAGCTCGCTGGGTGGAC	0.463																																						uc003fgu.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25						c.(298-300)tcG>tcT		Homo sapiens SKI-like oncogene (SKIL), transcript variant 1, mRNA.							147.0	153.0	151.0					3																	170078419		2203	4300	6503	SO:0001819	synonymous_variant	6498				cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	PML body|cytoplasm	SMAD binding|chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|transcription corepressor activity|transcription repressor activity	g.chr3:170078419G>T	X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"""SKI transcriptional corepressors"""	10897	protein-coding gene	gene with protein product		165340	"""SKI-like oncogene"""			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.300G>T	3.37:g.170078419G>T			Somatic				SKIL_uc011bps.2_Silent_p.S80S|SKIL_uc003fgv.3_Silent_p.S100S|SKIL_uc003fgw.3_Silent_p.S100S	p.S100S	NM_005414	NP_005405	WXS	Illumina GAIIx	Phase_I	P12757	SKIL_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		1	1012	+	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		100					A6NGT1|B4DT50|O00464|P12756|Q07501	Silent	SNP	ENST00000458537.3	37	c.300G>T	CCDS33890.1																																																																																				0.463	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4	NM_005414		4	167	0	0	0	1	0	4	167				
FAM83H	286077	broad.mit.edu	37	8	144811136	144811136	+	Splice_Site	SNP	C	C	T			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr8:144811136C>T	ENST00000388913.3	-	4	863		c.e4+1			NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H						biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CGCGGGCGCACCTGTAGCTCC	0.657																																						uc003yzk.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21						c.e4+1		Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.							57.0	69.0	65.0					8																	144811136		2080	4203	6283	SO:0001630	splice_region_variant	286077				biomineral tissue development			g.chr8:144811136C>T	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.737+1G>A	8.37:g.144811136C>T			Somatic					p.S246_splice	NM_198488	NP_940890	WXS	Illumina GAIIx	Phase_I	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		4	806	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		246					A0JLS2|Q8N4W0	Splice_Site	SNP	ENST00000388913.3	37	c.737_splice	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335140	0.81801	.	.	ENSG00000180921	ENST00000388913	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0821	0.86601	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM83H	144883124	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.894000	0.69806	2.333000	0.79357	0.555000	0.69702	.		0.657	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488	Intron	4	147	0	0	0	1	0	4	147				
C19orf67	646457	broad.mit.edu	37	19	14199324	14199324	+	5'Flank	SNP	G	G	A			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr19:14199324G>A	ENST00000548523.1	-	0	0				SAMD1_ENST00000533683.2_Missense_Mutation_p.R402C|C19orf67_ENST00000547589.1_5'Flank|SAMD1_ENST00000541938.1_5'Flank	NM_001277378.1	NP_001264307.1	A6NJJ6	CS067_HUMAN	chromosome 19 open reading frame 67											central_nervous_system(1)	1						GGCCCGAGGCGGATGGACAGG	0.577																																						uc010xnl.2																			0				endometrium(3)	3						c.(1204-1206)Cgc>Tgc		Homo sapiens sterile alpha motif domain containing 1 (SAMD1), mRNA.							58.0	64.0	62.0					19																	14199324		2043	4169	6212	SO:0001631	upstream_gene_variant	90378					cytoplasm|extracellular region		g.chr19:14199324G>A		CCDS59360.1	19p13.12	2008-07-02			ENSG00000188032	ENSG00000188032			34354	protein-coding gene	gene with protein product							Standard	NM_001277378		Approved		uc031rjr.1	A6NJJ6			19.37:g.14199324G>A	Exception_encountered		Somatic					p.R402C	NM_138352	NP_612361	WXS	Illumina GAIIx	Phase_I	Q6SPF0	SAMD1_HUMAN		GBM - Glioblastoma multiforme(1328;0.000411)|STAD - Stomach adenocarcinoma(1328;0.00644)|Lung(535;0.199)	5	1204	-		Renal(1328;0.00183)|Hepatocellular(1079;0.00826)	508						Missense_Mutation	SNP	ENST00000548523.1	37	c.1204C>T	CCDS59360.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502359	0.44455	.	.	ENSG00000141858	ENST00000533683;ENST00000269724	T;T	0.50813	0.73;0.73	4.48	2.34	0.29019	.	0.000000	0.64402	D	0.000001	T	0.53722	0.1814	L	0.40543	1.245	0.48696	D	0.999691	D	0.89917	1.0	D	0.83275	0.996	T	0.52351	-0.8587	10	0.87932	D	0	-9.0353	6.5325	0.22334	0.2208:0.0:0.7792:0.0	.	402	E9PIW9	.	C	402;102	ENSP00000431971:R402C;ENSP00000269724:R102C	ENSP00000269724:R102C	R	-	1	0	SAMD1	14060324	1.000000	0.71417	0.999000	0.59377	0.504000	0.33889	2.551000	0.45820	0.511000	0.28236	0.557000	0.71058	CGC		0.577	C19orf67-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403368.1	XM_929382		3	35	0	0	0	1	0	3	35				
GOLGA5	9950	broad.mit.edu	37	14	93303788	93303788	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr14:93303788A>G	ENST00000163416.2	+	12	2365	c.2109A>G	c.(2107-2109)atA>atG	p.I703M	GOLGA5_ENST00000355976.2_Intron	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	703					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		TTGTAATTATATATATGGTAA	0.353			T	RET	papillary thyroid																																	uc001yaz.1				Dom	yes		14	14q	9950	T	"""golgi autoantigen, golgin subfamily a, 5  (PTC5)"""			E	RET		papillary thyroid		0				large_intestine(6)|lung(1)|ovary(2)	9						c.(2107-2109)atA>atG		Homo sapiens golgin A5 (GOLGA5), mRNA.							80.0	92.0	88.0					14																	93303788		2203	4300	6503	SO:0001583	missense	9950				Golgi organization	cis-Golgi network|integral to membrane	ATP binding|Rab GTPase binding|protein homodimerization activity|protein tyrosine kinase activity	g.chr14:93303788A>G	AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"""golgi integral membrane protein 5"""	606918	"""golgi autoantigen, golgin subfamily a, 5"""			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.2109A>G	14.37:g.93303788A>G	ENSP00000163416:p.Ile703Met		Somatic				GOLGA5_uc001yba.1_Intron	p.I703M	NM_005113	NP_005104	WXS	Illumina GAIIx	Phase_I	Q8TBA6	GOGA5_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	11	2291	+		all_cancers(154;0.0934)	703					C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Missense_Mutation	SNP	ENST00000163416.2	37	c.2109A>G	CCDS9905.1	.	.	.	.	.	.	.	.	.	.	A	16.43	3.119798	0.56613	.	.	ENSG00000066455	ENST00000163416;ENST00000439315	T	0.48201	0.82	5.4	1.57	0.23409	.	0.000000	0.51477	D	0.000099	T	0.58293	0.2112	M	0.70275	2.135	0.80722	D	1	D	0.57899	0.981	P	0.62298	0.9	T	0.55173	-0.8182	10	0.66056	D	0.02	-14.5298	6.252	0.20852	0.3641:0.402:0.0:0.2339	.	703	Q8TBA6	GOGA5_HUMAN	M	703;612	ENSP00000163416:I703M	ENSP00000163416:I703M	I	+	3	3	GOLGA5	92373541	0.983000	0.35010	0.996000	0.52242	0.995000	0.86356	0.155000	0.16362	0.014000	0.14944	0.528000	0.53228	ATA		0.353	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1			11	155	0	0	0	1	0	11	155				
CEP192	55125	broad.mit.edu	37	18	13042296	13042296	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr18:13042296A>G	ENST00000325971.8	+	13	1835	c.242A>G	c.(241-243)aAt>aGt	p.N81S	CEP192_ENST00000430049.2_Missense_Mutation_p.N202S|CEP192_ENST00000506447.1_Missense_Mutation_p.N677S			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	81					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GTGGATGAAAATGATGTGACG	0.403																																						uc010xac.2																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2029-2031)aAt>aGt		Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.							98.0	86.0	90.0					18																	13042296		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13042296A>G	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.242A>G	18.37:g.13042296A>G	ENSP00000317156:p.Asn81Ser		Somatic				CEP192_uc010dlf.1_Intron|CEP192_uc010xad.2_Missense_Mutation_p.N202S|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krs.1_Missense_Mutation_p.N418S	p.N677S	NM_032142	NP_115518	WXS	Illumina GAIIx	Phase_I	B7ZMF0	B7ZMF0_HUMAN			14	2110	+			272					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.2030A>G		.	.	.	.	.	.	.	.	.	.	A	0.358	-0.940805	0.02322	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.06849	3.26;3.25;3.26	4.43	-3.99	0.04069	.	1.332350	0.05166	N	0.498825	T	0.04048	0.0113	N	0.08118	0	0.09310	N	1	B;B;B	0.09022	0.0;0.0;0.002	B;B;B	0.13407	0.0;0.001;0.009	T	0.46247	-0.9205	10	0.06625	T	0.88	-1.2743	11.8515	0.52413	0.3325:0.0:0.6675:0.0	.	202;677;81	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	S	677;81;81;202	ENSP00000427550:N677S;ENSP00000317156:N81S;ENSP00000389190:N202S	ENSP00000317156:N81S	N	+	2	0	CEP192	13032296	0.357000	0.24938	0.034000	0.17996	0.018000	0.09664	-0.255000	0.08769	-0.862000	0.04089	-0.379000	0.06801	AAT		0.403	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		5	67	0	0	0	1	0	5	67				
TDO2	6999	broad.mit.edu	37	4	156828925	156828925	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr4:156828925A>C	ENST00000536354.2	+	4	348	c.284A>C	c.(283-285)gAg>gCg	p.E95A		NM_005651.3	NP_005642.1			tryptophan 2,3-dioxygenase											breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)		TCTGTTCGAGAGATCTTTCAG	0.338																																					Colon(57;928 1036 2595 6946 26094)	uc003ipf.1																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(283-285)gAg>gCg		Homo sapiens tryptophan 2,3-dioxygenase (TDO2), mRNA.	L-Tryptophan(DB00150)						149.0	149.0	149.0					4																	156828925		2203	4300	6503	SO:0001583	missense	6999				tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity	g.chr4:156828925A>C		CCDS34086.1	4q31-q32	2008-02-05				ENSG00000151790	1.13.11.11		11708	protein-coding gene	gene with protein product		191070					Standard	NM_005651		Approved	TDO, TPH2	uc003ipf.2	P48775		ENST00000536354.2:c.284A>C	4.37:g.156828925A>C	ENSP00000444788:p.Glu95Ala		Somatic					p.E95A	NM_005651	NP_005642	WXS	Illumina GAIIx	Phase_I	P48775	T23O_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	3	348	+	all_hematologic(180;0.24)	Renal(120;0.0854)	95						Missense_Mutation	SNP	ENST00000536354.2	37	c.284A>C	CCDS34086.1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.523090	0.44866	.	.	ENSG00000151790	ENST00000536354	.	.	.	5.98	5.98	0.97165	.	0.243755	0.47093	D	0.000252	T	0.47377	0.1442	L	0.39898	1.24	0.46823	D	0.999217	B	0.18863	0.031	B	0.17979	0.02	T	0.39440	-0.9614	9	0.26408	T	0.33	-18.9772	11.306	0.49336	0.8323:0.0:0.0:0.1677	.	95	P48775	T23O_HUMAN	A	95	.	ENSP00000281525:E95A	E	+	2	0	TDO2	157048375	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.665000	0.68052	2.288000	0.76882	0.528000	0.53228	GAG		0.338	TDO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366209.3	NM_005651		3	73	0	0	0	1	0	3	73				
RYR1	6261	broad.mit.edu	37	19	38976750	38976750	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr19:38976750G>A	ENST00000359596.3	+	34	5455	c.5455G>A	c.(5455-5457)Gtg>Atg	p.V1819M	RYR1_ENST00000355481.4_Missense_Mutation_p.V1819M|RYR1_ENST00000360985.3_Missense_Mutation_p.V1819M			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1819	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGGGGAGGCGGTGCGCGACGG	0.706																																						uc002oit.3																			0		p.A1818G(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(5455-5457)Gtg>Atg		Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	Dantrolene(DB01219)						57.0	55.0	56.0					19																	38976750		2201	4293	6494	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38976750G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5455G>A	19.37:g.38976750G>A	ENSP00000352608:p.Val1819Met		Somatic				RYR1_uc002oiu.3_Missense_Mutation_p.V1819M	p.V1819M	NM_000540	NP_000531	WXS	Illumina GAIIx	Phase_I	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		33	5585	+	all_cancers(60;7.91e-06)		1819			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.5455G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362717	0.61403	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.75050	-0.9;-0.9;-0.9	3.7	3.7	0.42460	.	0.000000	0.56097	U	0.000025	D	0.84933	0.5582	M	0.73962	2.25	0.48830	D	0.999717	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.995	D	0.86575	0.1850	10	0.52906	T	0.07	.	15.2171	0.73277	0.0:0.0:1.0:0.0	.	1819;1819	P21817-2;P21817	.;RYR1_HUMAN	M	1819	ENSP00000352608:V1819M;ENSP00000347667:V1819M;ENSP00000354254:V1819M	ENSP00000347667:V1819M	V	+	1	0	RYR1	43668590	1.000000	0.71417	0.961000	0.40146	0.880000	0.50808	9.556000	0.98127	1.886000	0.54624	0.585000	0.79938	GTG		0.706	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			4	123	0	0	0	1	0	4	123				
BRSK1	84446	broad.mit.edu	37	19	55798597	55798597	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr19:55798597G>A	ENST00000309383.1	+	3	524	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	BRSK1_ENST00000590333.1_Missense_Mutation_p.A99T|BRSK1_ENST00000585418.1_Missense_Mutation_p.A83T	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	83	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GCGGGAGATCGCCATCCTGAA	0.607																																						uc002qkf.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48						c.(295-297)Gcc>Acc		Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.							145.0	130.0	135.0					19																	55798597		2203	4300	6503	SO:0001583	missense	84446				G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55798597G>A	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.247G>A	19.37:g.55798597G>A	ENSP00000310649:p.Ala83Thr		Somatic				BRSK1_uc021vbs.1_Missense_Mutation_p.A83T|BRSK1_uc002qkg.3_Missense_Mutation_p.A83T	p.A99T	NM_032430	NP_115806	WXS	Illumina GAIIx	Phase_I	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	4	422	+		Renal(1328;0.245)	83			Protein kinase.		F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	c.295G>A	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	24.0	4.477996	0.84747	.	.	ENSG00000160469	ENST00000309383	T	0.66099	-0.19	4.5	4.5	0.54988	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.64875	0.2638	N	0.17872	0.535	0.80722	D	1	D;D	0.64830	0.994;0.992	P;P	0.62491	0.903;0.843	T	0.69003	-0.5260	10	0.52906	T	0.07	.	16.8544	0.86002	0.0:0.0:1.0:0.0	.	83;99	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	T	83	ENSP00000310649:A83T	ENSP00000310649:A83T	A	+	1	0	BRSK1	60490409	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.274000	0.95731	2.444000	0.82710	0.500000	0.49745	GCC		0.607	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		4	168	0	0	0	1	0	4	168				
CNGB1	1258	broad.mit.edu	37	16	57938657	57938657	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr16:57938657A>G	ENST00000251102.8	-	26	2675	c.2615T>C	c.(2614-2616)tTc>tCc	p.F872S	CNGB1_ENST00000564448.1_Missense_Mutation_p.F866S	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	872					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CATCACAGAGAAAGCAAAGAC	0.567																																					Colon(156;1293 1853 16336 28962 38659)	uc002emt.2																			0				breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(2614-2616)tTc>tCc		Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.							104.0	112.0	110.0					16																	57938657		1879	4089	5968	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57938657A>G	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.2615T>C	16.37:g.57938657A>G	ENSP00000251102:p.Phe872Ser		Somatic				CNGB1_uc010cdh.2_Missense_Mutation_p.F866S	p.F872S	NM_001297	NP_001288	WXS	Illumina GAIIx	Phase_I	Q14028	CNGB1_HUMAN			25	2680	-			872					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.2615T>C	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.606081	0.87157	.	.	ENSG00000070729	ENST00000251102	D	0.97870	-4.58	5.06	5.06	0.68205	.	0.059725	0.64402	D	0.000002	D	0.98670	0.9554	M	0.86953	2.85	0.80722	D	1	D;P	0.65815	0.995;0.879	D;P	0.69654	0.965;0.695	D	0.99585	1.0974	10	0.66056	D	0.02	.	14.3064	0.66386	1.0:0.0:0.0:0.0	.	244;872	Q14028-2;Q14028	.;CNGB1_HUMAN	S	872	ENSP00000251102:F872S	ENSP00000251102:F872S	F	-	2	0	CNGB1	56496158	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.336000	0.96533	2.037000	0.60232	0.533000	0.62120	TTC		0.567	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		7	158	0	0	0	1	0	7	158				
MYO15A	51168	broad.mit.edu	37	17	18022790	18022790	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr17:18022790C>T	ENST00000205890.5	+	2	1014	c.676C>T	c.(676-678)Ctt>Ttt	p.L226F		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	226					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)					GCTGTACGGGCTTGAGGGCTT	0.642																																						uc021trm.1																			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.(676-678)Ctt>Ttt		Homo sapiens myosin XVA (MYO15A), mRNA.							38.0	42.0	41.0					17																	18022790		2076	4200	6276	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity	g.chr17:18022790C>T	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.676C>T	17.37:g.18022790C>T	ENSP00000205890:p.Leu226Phe		Somatic				MYO15A_uc021trl.1_Missense_Mutation_p.L226F	p.L226F	NM_016239	NP_057323	WXS	Illumina GAIIx	Phase_I	Q9UKN7	MYO15_HUMAN			0	895	+	all_neural(463;0.228)		226			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.676C>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100148	0.56183	.	.	ENSG00000091536	ENST00000205890	D	0.90732	-2.72	5.52	4.54	0.55810	.	.	.	.	.	D	0.90669	0.7073	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	D	0.88794	0.3280	9	0.33940	T	0.23	.	12.616	0.56578	0.0:0.9168:0.0:0.0832	.	226	Q9UKN7	MYO15_HUMAN	F	226	ENSP00000205890:L226F	ENSP00000205890:L226F	L	+	1	0	MYO15A	17963515	0.745000	0.28261	0.976000	0.42696	0.582000	0.36321	1.857000	0.39399	2.584000	0.87258	0.555000	0.69702	CTT		0.642	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		5	65	0	0	0	1	0	5	65				
NF1	4763	broad.mit.edu	37	17	29588854	29588854	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr17:29588854A>G	ENST00000358273.4	+	35	5086	c.4703A>G	c.(4702-4704)aAg>aGg	p.K1568R	NF1_ENST00000356175.3_Missense_Mutation_p.K1547R	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1568					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACCAGTTCAAAGTTTGAGGAA	0.428			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)|p.S1567*(1)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(4702-4704)aAg>aGg		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.							76.0	70.0	72.0					17																	29588854		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	g.chr17:29588854A>G		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4703A>G	17.37:g.29588854A>G	ENSP00000351015:p.Lys1568Arg	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)	Somatic				NF1_uc002hgh.3_Missense_Mutation_p.K1547R|NF1_uc002hgi.1_Missense_Mutation_p.K580R	p.K1568R	NM_001042492	NP_001035957	WXS	Illumina GAIIx	Phase_I	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	34	5086	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1568					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.4703A>G	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	A	13.47	2.247929	0.39697	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.08984	3.18;3.33;3.03	5.83	5.83	0.93111	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.13243	0.0321	N	0.11870	0.19	0.80722	D	1	B;D;B	0.56035	0.004;0.974;0.013	B;D;B	0.70487	0.002;0.969;0.014	T	0.44050	-0.9353	10	0.14656	T	0.56	.	16.1946	0.82018	1.0:0.0:0.0:0.0	.	597;1547;1568	Q59FX3;P21359-2;P21359	.;.;NF1_HUMAN	R	1568;1547;1213	ENSP00000351015:K1568R;ENSP00000348498:K1547R;ENSP00000389907:K1213R	ENSP00000348498:K1547R	K	+	2	0	NF1	26612980	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.697000	0.91307	2.228000	0.72767	0.528000	0.53228	AAG		0.428	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		4	55	0	0	0	1	0	4	55				
DMTN	2039	broad.mit.edu	37	8	21924655	21924655	+	Silent	SNP	T	T	G			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr8:21924655T>G	ENST00000523266.1	+	3	540	c.78T>G	c.(76-78)tcT>tcG	p.S26S	DMTN_ENST00000265800.5_Silent_p.S26S|DMTN_ENST00000432128.1_Silent_p.S26S|DMTN_ENST00000415253.1_Silent_p.S26S|DMTN_ENST00000523782.2_Intron|DMTN_ENST00000519907.1_Silent_p.S26S|DMTN_ENST00000443491.2_Intron|DMTN_ENST00000358242.3_Silent_p.S26S|DMTN_ENST00000517600.1_Intron|DMTN_ENST00000381470.3_Silent_p.S26S	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	26					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)										TGCCTGGCTCTCCCTCCAGCA	0.697																																						uc022asw.1																			0				central_nervous_system(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	10						c.(76-78)tcT>tcG		Homo sapiens erythrocyte membrane protein band 4.9 (dematin) (EPB49), transcript variant 1, mRNA.							32.0	32.0	32.0					8																	21924655		2198	4299	6497	SO:0001819	synonymous_variant	2039				actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding	g.chr8:21924655T>G	U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"""erythrocyte membrane protein band 4.9 (dematin)"""	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.78T>G	8.37:g.21924655T>G			Somatic				EPB49_uc022asq.1_Silent_p.S26S|EPB49_uc011kys.1_Intron|EPB49_uc022asr.1_Silent_p.S26S|EPB49_uc022ass.1_Intron|EPB49_uc022ast.1_Silent_p.S26S|EPB49_uc022asu.1_Silent_p.S26S|EPB49_uc022asv.1_Silent_p.S26S|EPB49_uc022asx.1_Silent_p.S26S|EPB49_uc022asy.1_Intron	p.S26S	NM_001978	NP_001969	WXS	Illumina GAIIx	Phase_I	Q08495	DEMA_HUMAN		Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)	1	116	+			26					A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Silent	SNP	ENST00000523266.1	37	c.78T>G	CCDS6020.1																																																																																				0.697	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375178.1	NM_001978		3	89	0	0	0	1	0	3	89				
LRRC30	339291	broad.mit.edu	37	18	7231664	7231664	+	Silent	SNP	G	G	A			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr18:7231664G>A	ENST00000383467.2	+	1	542	c.528G>A	c.(526-528)gcG>gcA	p.A176A		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	176								p.A176A(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						ACTTCTTCGCGCACATCCCCA	0.552																																						uc010wzk.2																			1	Substitution - coding silent(1)	p.A176A(2)	large_intestine(1)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(526-528)gcG>gcA		Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.							96.0	103.0	100.0					18																	7231664		2112	4226	6338	SO:0001819	synonymous_variant	339291							g.chr18:7231664G>A		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.528G>A	18.37:g.7231664G>A			Somatic					p.A176A	NM_001105581	NP_001099051	WXS	Illumina GAIIx	Phase_I	A6NM36	LRC30_HUMAN			0	528	+			176						Silent	SNP	ENST00000383467.2	37	c.528G>A	CCDS42409.1																																																																																				0.552	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678		8	133	0	0	0	1	0	8	133				
UNC93A	54346	broad.mit.edu	37	6	167728844	167728844	+	Silent	SNP	G	G	A			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr6:167728844G>A	ENST00000230256.3	+	8	1453	c.1278G>A	c.(1276-1278)ggG>ggA	p.G426G	UNC93A_ENST00000366829.2_Silent_p.G384G	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	426						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TGGCGTATGGGCTTGTGGAGT	0.542																																						uc003qvq.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40						c.(1276-1278)ggG>ggA		Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA.							219.0	239.0	232.0					6																	167728844		2203	4300	6503	SO:0001819	synonymous_variant	54346					integral to membrane|plasma membrane		g.chr6:167728844G>A	AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.1278G>A	6.37:g.167728844G>A			Somatic				UNC93A_uc003qvr.3_Silent_p.G384G	p.G426G	NM_018974	NP_061847	WXS	Illumina GAIIx	Phase_I	Q86WB7	UN93A_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	7	1453	+		Breast(66;7.62e-05)|Ovarian(120;0.105)	426					B3KRP5|Q4QQJ4|Q5JZD6	Silent	SNP	ENST00000230256.3	37	c.1278G>A	CCDS5300.1																																																																																				0.542	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974		14	304	0	0	0	1	0	14	304				
KIF27	55582	broad.mit.edu	37	9	86474101	86474101	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr9:86474101T>A	ENST00000297814.2	-	14	3263	c.3120A>T	c.(3118-3120)aaA>aaT	p.K1040N	RP11-575L7.4_ENST00000592283.1_RNA|RP11-575L7.4_ENST00000586211.1_RNA|RP11-575L7.4_ENST00000590813.1_RNA|RP11-575L7.4_ENST00000608866.1_RNA|RP11-575L7.4_ENST00000590368.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.K943N|KIF27_ENST00000413982.1_Missense_Mutation_p.K974N|RP11-575L7.4_ENST00000589233.1_RNA|RP11-575L7.4_ENST00000590417.1_RNA|RP11-575L7.4_ENST00000421734.3_RNA|RP11-575L7.4_ENST00000589817.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000586206.1_RNA	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1040					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CATTTTTAAGTTTTTCATCCA	0.398																																						uc004ana.3																			0				breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						c.(3118-3120)aaA>aaT		Homo sapiens kinesin family member 27 (KIF27), mRNA.							192.0	166.0	175.0					9																	86474101		2202	4300	6502	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86474101T>A	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.3120A>T	9.37:g.86474101T>A	ENSP00000297814:p.Lys1040Asn		Somatic				KIF27_uc010mpw.3_Missense_Mutation_p.K974N|KIF27_uc010mpx.3_Missense_Mutation_p.K943N	p.K1040N	NM_017576	NP_060046	WXS	Illumina GAIIx	Phase_I	Q86VH2	KIF27_HUMAN			13	3264	-			1040					B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.3120A>T	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	T	14.95	2.688574	0.48097	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.77358	-1.09;-1.03;-0.73	4.5	3.36	0.38483	.	0.101468	0.41001	D	0.000978	D	0.83280	0.5220	M	0.66939	2.045	0.30779	N	0.742158	D;D;D	0.63880	0.992;0.993;0.986	P;D;P	0.70016	0.847;0.967;0.638	T	0.80018	-0.1558	10	0.51188	T	0.08	.	6.9211	0.24389	0.0:0.1827:0.0:0.8172	.	943;974;1040	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	N	1040;974;943	ENSP00000297814:K1040N;ENSP00000401688:K974N;ENSP00000333928:K943N	ENSP00000297814:K1040N	K	-	3	2	KIF27	85663921	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	1.174000	0.31932	0.771000	0.33359	0.402000	0.26972	AAA		0.398	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		4	71	0	0	0	1	0	4	71				
IRAK2	3656	broad.mit.edu	37	3	10258686	10258686	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr3:10258686A>G	ENST00000256458.4	+	7	947	c.857A>G	c.(856-858)tAc>tGc	p.Y286C	RNU6-814P_ENST00000410416.1_RNA	NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	286	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						AGCTTCATCTACCCCTACATG	0.567																																						uc003bve.1																			0				breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						c.(856-858)tAc>tGc		Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA.							173.0	141.0	152.0					3																	10258686		2203	4300	6503	SO:0001583	missense	3656				I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity	g.chr3:10258686A>G	AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.857A>G	3.37:g.10258686A>G	ENSP00000256458:p.Tyr286Cys		Somatic					p.Y286C	NM_001570	NP_001561	WXS	Illumina GAIIx	Phase_I	O43187	IRAK2_HUMAN			6	933	+			286			Protein kinase.		B4DQZ6|Q08AG6|Q5K546	Missense_Mutation	SNP	ENST00000256458.4	37	c.857A>G	CCDS33697.1	.	.	.	.	.	.	.	.	.	.	A	18.00	3.526086	0.64860	.	.	ENSG00000134070	ENST00000256458	T	0.36699	1.24	5.59	5.59	0.84812	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.648008	0.14371	N	0.323781	T	0.65565	0.2703	M	0.90483	3.12	0.50313	D	0.999863	D	0.76494	0.999	D	0.66847	0.947	T	0.70432	-0.4873	10	0.87932	D	0	-13.7169	12.1662	0.54131	1.0:0.0:0.0:0.0	.	286	O43187	IRAK2_HUMAN	C	286	ENSP00000256458:Y286C	ENSP00000256458:Y286C	Y	+	2	0	IRAK2	10233686	1.000000	0.71417	0.907000	0.35723	0.799000	0.45148	5.101000	0.64566	2.120000	0.65058	0.459000	0.35465	TAC		0.567	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339623.1			4	141	0	0	0	1	0	4	141				
C1QA	712	broad.mit.edu	37	1	22965379	22965379	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr1:22965379delC	ENST00000374642.3	+	3	421	c.217delC	c.(217-219)cctfs	p.P73fs	C1QA_ENST00000402322.1_Frame_Shift_Del_p.P73fs	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	73	Collagen-like.				cell-cell signaling (GO:0007267)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCAGGGGGAACCTGGGCCCTC	0.647																																						uc001bfy.3																			0				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6						c.(217-219)cctfs		Homo sapiens complement component 1, q subcomponent, A chain (C1QA), mRNA.	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						7.0	9.0	8.0					1																	22965379		2160	4265	6425	SO:0001589	frameshift_variant	712				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22965379delC	AF135157	CCDS226.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173372	ENSG00000173372		"""Complement system"""	1241	protein-coding gene	gene with protein product		120550	"""complement component 1, q subcomponent, alpha polypeptide"""			1537612	Standard	NM_015991		Approved		uc001bfy.3	P02745	OTTHUMG00000002893	ENST00000374642.3:c.217delC	1.37:g.22965379delC	ENSP00000363773:p.Pro73fs		Somatic					p.P73fs	NM_015991	NP_057075	WXS	Illumina GAIIx	Phase_I	P02745	C1QA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	2	302	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	73			Collagen-like.		B2R4X2|Q5T963	Frame_Shift_Del	DEL	ENST00000374642.3	37	c.217delC	CCDS226.1																																																																																				0.647	C1QA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008087.2	NM_015991		2	4						2	4	---	---	---	---
FZD10	11211	broad.mit.edu	37	12	130647501	130647502	+	Frame_Shift_Ins	INS	-	-	C	rs549279147	byFrequency	TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr12:130647501_130647502insC	ENST00000229030.4	+	1	498_499	c.14_15insC	c.(13-18)ggccccfs	p.GP5fs	FZD10-AS1_ENST00000505807.2_RNA|FZD10_ENST00000539839.1_5'UTR			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	5					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CAGCGCCCGGGCCCCCGCCTGT	0.743																																						uc001uii.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35						c.(13-15)ggcfs		Homo sapiens frizzled family receptor 10 (FZD10), mRNA.																																				SO:0001589	frameshift_variant	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130647501_130647502insC	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.19dupC	12.37:g.130647506_130647506dupC	ENSP00000229030:p.Gly5fs		Somatic				FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank	p.G5fs	NM_007197	NP_009128	WXS	Illumina GAIIx	Phase_I	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	0	498_499	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		5						Frame_Shift_Ins	INS	ENST00000229030.4	37	c.14_15insC	CCDS9267.1																																																																																				0.743	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				3	6						3	6	---	---	---	---
