#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
DYNC1H1	1778	broad.mit.edu	37	14	102471238	102471238	+	Missense_Mutation	SNP	C	C	A			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr14:102471238C>A	ENST00000360184.4	+	25	5353	c.5189C>A	c.(5188-5190)gCa>gAa	p.A1730E		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1730	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTTGGTAAAGCAACTTCAATT	0.418																																						uc001yks.2																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(5188-5190)gCa>gAa		Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.							96.0	90.0	92.0					14																	102471238		2203	4300	6503	SO:0001583	missense	1778				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102471238C>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.5189C>A	14.37:g.102471238C>A	ENSP00000348965:p.Ala1730Glu		Somatic					p.A1730E	NM_001376	NP_001367	WXS	Illumina GAIIx	Phase_I	Q14204	DYHC1_HUMAN			24	5353	+			1730			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.5189C>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881999	0.33255	.	.	ENSG00000197102	ENST00000360184	T	0.29655	1.56	5.85	5.85	0.93711	.	0.048570	0.85682	D	0.000000	T	0.18087	0.0434	N	0.08118	0	0.48185	D	0.999605	B	0.02656	0.0	B	0.04013	0.001	T	0.13308	-1.0514	10	0.07990	T	0.79	.	20.1708	0.98159	0.0:1.0:0.0:0.0	.	1730	Q14204	DYHC1_HUMAN	E	1730	ENSP00000348965:A1730E	ENSP00000348965:A1730E	A	+	2	0	DYNC1H1	101540991	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	4.106000	0.57804	2.761000	0.94854	0.655000	0.94253	GCA		0.418	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		27	35	0	0	0	1	0	27	35				
EDEM3	80267	broad.mit.edu	37	1	184671950	184671950	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr1:184671950T>C	ENST00000318130.8	-	19	2650	c.2384A>G	c.(2383-2385)gAt>gGt	p.D795G	EDEM3_ENST00000367512.3_Missense_Mutation_p.D752G|EDEM3_ENST00000466392.1_5'UTR	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	795					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTTACCTCGATCTTTTGCTTT	0.373																																						uc010pom.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(2383-2385)gAt>gGt		Homo sapiens ER degradation enhancer, mannosidase alpha-like 3 (EDEM3), mRNA.							105.0	95.0	98.0					1																	184671950		2203	4300	6503	SO:0001583	missense	80267				post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr1:184671950T>C	AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"""chromosome 1 open reading frame 22"""	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.2384A>G	1.37:g.184671950T>C	ENSP00000318147:p.Asp795Gly		Somatic				EDEM3_uc010pok.2_Missense_Mutation_p.D795G|EDEM3_uc010pol.2_Non-coding_Transcript	p.D795G	NM_025191	NP_079467	WXS	Illumina GAIIx	Phase_I	Q9BZQ6	EDEM3_HUMAN			18	2645	-			795					B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Missense_Mutation	SNP	ENST00000318130.8	37	c.2384A>G	CCDS1363.2	.	.	.	.	.	.	.	.	.	.	T	16.84	3.234185	0.58886	.	.	ENSG00000116406	ENST00000318130;ENST00000367512	T;T	0.73897	-0.78;-0.79	4.89	4.89	0.63831	.	0.052949	0.64402	D	0.000001	T	0.64360	0.2591	L	0.34521	1.04	0.80722	D	1	P	0.36282	0.546	B	0.32980	0.156	T	0.68884	-0.5291	10	0.59425	D	0.04	.	14.8348	0.70175	0.0:0.0:0.0:1.0	.	795	Q9BZQ6	EDEM3_HUMAN	G	795;752	ENSP00000318147:D795G;ENSP00000356482:D752G	ENSP00000318147:D795G	D	-	2	0	EDEM3	182938573	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.178000	0.77657	1.969000	0.57287	0.533000	0.62120	GAT		0.373	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085785.3	NM_025191		16	34	0	0	0	1	0	16	34				
ATP2B2	491	broad.mit.edu	37	3	10413502	10413502	+	Silent	SNP	G	G	C			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr3:10413502G>C	ENST00000352432.4	-	11	1719	c.1650C>G	c.(1648-1650)acC>acG	p.T550T	ATP2B2_ENST00000360273.2_Silent_p.T550T|ATP2B2_ENST00000383800.4_Silent_p.T505T|ATP2B2_ENST00000343816.4_Silent_p.T536T|ATP2B2_ENST00000397077.1_Silent_p.T505T			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	550					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CCAGAATCTTGGTGGTGTAGG	0.532																																					Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(1648-1650)acC>acG		Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.							131.0	112.0	118.0					3																	10413502		2203	4300	6503	SO:0001819	synonymous_variant	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding	g.chr3:10413502G>C	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1650C>G	3.37:g.10413502G>C			Somatic				ATP2B2_uc003bvv.3_Silent_p.T505T|ATP2B2_uc003bvw.3_Silent_p.T505T|ATP2B2_uc010hdo.3_Silent_p.T255T	p.T550T	NM_001001331	NP_001001331	WXS	Illumina GAIIx	Phase_I	Q01814	AT2B2_HUMAN			11	2089	-			550					O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	c.1650C>G	CCDS33701.1																																																																																				0.532	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		12	31	0	0	0	1	0	12	31				
SLC35E3	55508	broad.mit.edu	37	12	69140181	69140182	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr12:69140181_69140182GC>TT	ENST00000398004.2	+	1	296_297	c.24_25GC>TT	c.(22-27)gtGCgg>gtTTgg	p.R9W		NM_018656.2	NP_061126.2	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E3	9						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			TGGACCGAGTGCGGGGCCACTG	0.634																																						uc001suh.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						c.(22-27)gtgcgg>gtTTgg		Homo sapiens solute carrier family 35, member E3 (SLC35E3), mRNA.																																				SO:0001583	missense	55508					integral to membrane		g.chr12:69140181_69140182GC>TT	AF148713, AY358943	CCDS41808.1	12q15	2014-09-04			ENSG00000175782	ENSG00000175782		"""Solute carriers"""	20864	protein-coding gene	gene with protein product						12975309	Standard	XM_005269006		Approved	BLOV1	uc001suh.3	Q7Z769	OTTHUMG00000169282	Exception_encountered	12.37:g.69140181_69140182delinsTT	ENSP00000381089:p.Arg9Trp		Somatic					p.R9W	NM_018656	NP_061126	WXS	Illumina GAIIx	Phase_I	Q7Z769	S35E3_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)		0	246_247	+	Breast(13;2.31e-06)|Renal(347;0.0684)		9					A8K0T0|Q0P5Y5|Q9P0V1	Missense_Mutation	DNP	ENST00000398004.2	37	c.24_25GC>TT	CCDS41808.1																																																																																				0.634	SLC35E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403241.1	NM_018656		13	12	0	0	0	1	0	13	12				
KRTCAP3	200634	broad.mit.edu	37	2	27666263	27666263	+	Splice_Site	SNP	A	A	C			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr2:27666263A>C	ENST00000543753.1	+	5	527		c.e5-1		KRTCAP3_ENST00000407293.1_Splice_Site|KRTCAP3_ENST00000288873.3_Splice_Site	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3							integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					CTTGCTTTTCAGGATACAGCC	0.517																																						uc002rks.3																			0				large_intestine(1)|lung(2)	3						c.e5-2		Homo sapiens keratinocyte associated protein 3 (KRTCAP3), transcript variant 2, mRNA.							126.0	111.0	116.0					2																	27666263		2203	4300	6503	SO:0001630	splice_region_variant	200634					integral to membrane		g.chr2:27666263A>C	AY157576	CCDS1754.1	2p23.3	2008-02-05			ENSG00000157992	ENSG00000157992			28943	protein-coding gene	gene with protein product							Standard	NM_173853		Approved	KCP3	uc002rks.3	Q53RY4	OTTHUMG00000097782	ENST00000543753.1:c.481-1A>C	2.37:g.27666263A>C			Somatic				KRTCAP3_uc010ylr.2_Splice_Site_p.D161_splice|KRTCAP3_uc021vfd.1_Splice_Site_p.D161_splice|KRTCAP3_uc002rkt.3_Splice_Site_p.D143_splice	p.D161_splice	NM_173853	NP_776252	WXS	Illumina GAIIx	Phase_I	Q53RY4	KCP3_HUMAN			5	528	+	Acute lymphoblastic leukemia(172;0.155)		161					B7ZL49|Q6UW42|Q8IWS5	Splice_Site	SNP	ENST00000543753.1	37	c.481_splice	CCDS1754.1	.	.	.	.	.	.	.	.	.	.	A	18.95	3.731792	0.69189	.	.	ENSG00000157992	ENST00000543753;ENST00000288873;ENST00000407293	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0081	0.71527	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KRTCAP3	27519767	1.000000	0.71417	0.927000	0.36925	0.833000	0.47200	7.905000	0.87416	2.228000	0.72767	0.459000	0.35465	.		0.517	KRTCAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215025.1	NM_173853	Intron	48	74	0	0	0	1	0	48	74				
DMRTB1	63948	broad.mit.edu	37	1	53927304	53927304	+	Missense_Mutation	SNP	C	C	A			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr1:53927304C>A	ENST00000371445.3	+	2	791	c.736C>A	c.(736-738)Caa>Aaa	p.Q246K	DMRTB1_ENST00000463126.1_3'UTR	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	246	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						CAGCCAGTACCAAGGCGGAGG	0.662																																						uc001cvq.1																			0				large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						c.(736-738)Caa>Aaa		Homo sapiens DMRT-like family B with proline-rich C-terminal, 1 (DMRTB1), mRNA.							41.0	42.0	42.0					1																	53927304		2203	4300	6503	SO:0001583	missense	63948				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr1:53927304C>A	AJ291671	CCDS581.1	1p32	2008-08-29			ENSG00000143006	ENSG00000143006			13913	protein-coding gene	gene with protein product		614805					Standard	NM_033067		Approved		uc001cvq.1	Q96MA1	OTTHUMG00000008080	ENST00000371445.3:c.736C>A	1.37:g.53927304C>A	ENSP00000360500:p.Gln246Lys		Somatic					p.Q246K	NM_033067	NP_149056	WXS	Illumina GAIIx	Phase_I	Q96MA1	DMRTB_HUMAN			1	791	+			246			Pro-rich.		Q96SD2	Missense_Mutation	SNP	ENST00000371445.3	37	c.736C>A	CCDS581.1	.	.	.	.	.	.	.	.	.	.	C	8.817	0.936642	0.18206	.	.	ENSG00000143006	ENST00000371445;ENST00000431335	T	0.28666	1.6	5.01	4.1	0.47936	.	0.920532	0.09200	N	0.834795	T	0.22399	0.0540	L	0.36672	1.1	0.09310	N	1	B	0.16396	0.017	B	0.14023	0.01	T	0.28038	-1.0056	10	0.02654	T	1	-1.1052	11.0587	0.47933	0.1848:0.8152:0.0:0.0	.	246	Q96MA1	DMRTB_HUMAN	K	246;93	ENSP00000360500:Q246K	ENSP00000360500:Q246K	Q	+	1	0	DMRTB1	53699892	0.000000	0.05858	0.087000	0.20705	0.929000	0.56500	0.382000	0.20635	1.484000	0.48361	0.655000	0.94253	CAA		0.662	DMRTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022110.1			19	20	0	0	0	1	0	19	20				
C1orf146	388649	broad.mit.edu	37	1	92711147	92711147	+	Silent	SNP	T	T	G			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr1:92711147T>G	ENST00000370375.3	+	6	607	c.459T>G	c.(457-459)gcT>gcG	p.A153A	C1orf146_ENST00000370373.2_Silent_p.A94A	NM_001012425.1	NP_001012425.1	Q5VVC0	CA146_HUMAN	chromosome 1 open reading frame 146	153										breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8		all_lung(203;0.00528)|Lung NSC(277;0.0193)		all cancers(265;0.00846)|Epithelial(280;0.0952)		TGATAACAGCTAAAGCTTACA	0.328																																						uc001doq.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						c.(457-459)gcT>gcG		Homo sapiens chromosome 1 open reading frame 146 (C1orf146), mRNA.							81.0	82.0	82.0					1																	92711147		2203	4296	6499	SO:0001819	synonymous_variant	388649							g.chr1:92711147T>G		CCDS30772.1	1p22.1	2008-02-05			ENSG00000203910	ENSG00000203910			24032	protein-coding gene	gene with protein product						15496913	Standard	NM_001012425		Approved		uc001doq.3	Q5VVC0	OTTHUMG00000010285	ENST00000370375.3:c.459T>G	1.37:g.92711147T>G			Somatic				C1orf146_uc010ote.2_Silent_p.A94A	p.A153A	NM_001012425	NP_001012425	WXS	Illumina GAIIx	Phase_I	Q5VVC0	CA146_HUMAN		all cancers(265;0.00846)|Epithelial(280;0.0952)	5	531	+		all_lung(203;0.00528)|Lung NSC(277;0.0193)	153					Q5VVC4	Silent	SNP	ENST00000370375.3	37	c.459T>G	CCDS30772.1																																																																																				0.328	C1orf146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028364.1	NM_001012425		23	38	0	0	0	1	0	23	38				
ADAR	103	broad.mit.edu	37	1	154574423	154574423	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr1:154574423C>T	ENST00000368474.4	-	2	894	c.695G>A	c.(694-696)aGa>aAa	p.R232K	ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000471068.1_5'Flank|ADAR_ENST00000292205.5_Missense_Mutation_p.R275K	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	232					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TGTGGAGTTTCTGTCTTCCGG	0.527																																						uc001ffh.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(694-696)aGa>aAa		Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA.							85.0	89.0	88.0					1																	154574423		2203	4300	6503	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154574423C>T	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.695G>A	1.37:g.154574423C>T	ENSP00000357459:p.Arg232Lys		Somatic				ADAR_uc021pag.1_5'UTR|ADAR_uc001ffj.3_Missense_Mutation_p.R232K|ADAR_uc001ffi.3_Missense_Mutation_p.R232K|ADAR_uc001ffk.3_5'UTR|ADAR_uc001ffl.1_5'UTR	p.R232K	NM_001111	NP_001180424	WXS	Illumina GAIIx	Phase_I	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	1	937	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		232					B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	c.695G>A	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	C	2.655	-0.280973	0.05642	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000529168	T;T;T	0.11277	2.79;2.8;2.82	1.96	1.96	0.26148	.	0.412136	0.17037	U	0.189462	T	0.02494	0.0076	L	0.38175	1.15	0.09310	N	1	B;B;B	0.18166	0.026;0.026;0.015	B;B;B	0.15052	0.012;0.012;0.005	T	0.43442	-0.9391	10	0.17369	T	0.5	.	9.4394	0.38659	0.0:1.0:0.0:0.0	.	232;232;232	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	K	275;232;227	ENSP00000292205:R275K;ENSP00000357459:R232K;ENSP00000431794:R227K	ENSP00000292205:R275K	R	-	2	0	ADAR	152841047	0.007000	0.16637	0.037000	0.18230	0.348000	0.29142	0.216000	0.17585	1.385000	0.46445	0.313000	0.20887	AGA		0.527	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		32	86	0	0	0	1	0	32	86				
FOXR2	139628	broad.mit.edu	37	X	55650232	55650232	+	Missense_Mutation	SNP	T	T	A			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chrX:55650232T>A	ENST00000339140.3	+	1	400	c.88T>A	c.(88-90)Tta>Ata	p.L30I		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	30					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						GAGGAATGAGTTATTTCTGCC	0.468																																						uc004duo.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(88-90)Tta>Ata		Homo sapiens forkhead box R2 (FOXR2), mRNA.							100.0	90.0	93.0					X																	55650232		2203	4300	6503	SO:0001583	missense	139628				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:55650232T>A	BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"""Forkhead boxes"""	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.88T>A	X.37:g.55650232T>A	ENSP00000427329:p.Leu30Ile		Somatic					p.L30I	NM_198451	NP_940853	WXS	Illumina GAIIx	Phase_I	Q6PJQ5	FOXR2_HUMAN			0	400	+			30						Missense_Mutation	SNP	ENST00000339140.3	37	c.88T>A	CCDS35308.1	.	.	.	.	.	.	.	.	.	.	T	8.141	0.785188	0.16189	.	.	ENSG00000189299	ENST00000339140	D	0.94897	-3.55	4.2	0.314	0.15847	.	2.136140	0.02246	U	0.066213	D	0.86760	0.6010	N	0.17474	0.49	0.23585	N	0.997355	B	0.22276	0.067	B	0.17098	0.017	T	0.75542	-0.3281	10	0.23302	T	0.38	.	0.6309	0.00794	0.2123:0.1218:0.2155:0.4504	.	30	Q6PJQ5	FOXR2_HUMAN	I	30	ENSP00000427329:L30I	ENSP00000427329:L30I	L	+	1	2	FOXR2	55666957	0.998000	0.40836	0.003000	0.11579	0.171000	0.22731	0.560000	0.23500	0.113000	0.18004	0.486000	0.48141	TTA		0.468	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451		27	56	0	0	0	1	0	27	56				
TTLL3	26140	broad.mit.edu	37	3	9876847	9876847	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr3:9876847G>C	ENST00000547186.1	+	13	2209	c.1993G>C	c.(1993-1995)Gaa>Caa	p.E665Q	TTLL3_ENST00000397241.1_3'UTR|TTLL3_ENST00000426895.4_Missense_Mutation_p.E808Q|TTLL3_ENST00000383827.1_3'UTR|TTLL3_ENST00000430793.1_3'UTR|TTLL3_ENST00000455274.1_Intron|ARPC4-TTLL3_ENST00000397256.1_3'UTR	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	665					axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					TTTGAAGTCGGAACAATTCCT	0.587																																						uc003btg.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26						c.(1993-1995)Gaa>Caa		Homo sapiens tubulin tyrosine ligase-like family, member 3 (TTLL3), transcript variant 1, mRNA.							96.0	101.0	99.0					3																	9876847		2048	4199	6247	SO:0001583	missense	26140				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	g.chr3:9876847G>C		CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"""Tubulin tyrosine ligase-like family"""	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.1993G>C	3.37:g.9876847G>C	ENSP00000446659:p.Glu665Gln		Somatic				TTLL3_uc003btd.4_3'UTR|TTLL3_uc003btc.2_Intron|TTLL3_uc003btf.4_3'UTR|TTLL3_uc003bth.4_3'UTR|TTLL3_uc011atj.2_3'UTR|TTLL3_uc003btj.4_3'UTR|TTLL3_uc003bti.4_3'UTR	p.E665Q	NM_001025930	NP_001021100	WXS	Illumina GAIIx	Phase_I	Q9Y4R7	TTLL3_HUMAN			12	2469	+	Medulloblastoma(99;0.227)		665					Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Missense_Mutation	SNP	ENST00000547186.1	37	c.1993G>C		.	.	.	.	.	.	.	.	.	.	G	6.485	0.457616	0.12342	.	.	ENSG00000214021	ENST00000426895;ENST00000547186	T;T	0.05996	3.36;3.49	3.96	3.06	0.35304	.	27.729100	0.00682	U	0.000699	T	0.06645	0.0170	N	0.22421	0.69	0.20764	N	0.999857	B	0.14438	0.01	B	0.12837	0.008	T	0.34054	-0.9844	10	0.25106	T	0.35	.	9.6199	0.39714	0.0:0.2126:0.7874:0.0	.	665	Q9Y4R7	TTLL3_HUMAN	Q	808;665	ENSP00000392549:E808Q;ENSP00000446659:E665Q	ENSP00000392549:E808Q	E	+	1	0	TTLL3	9851847	0.041000	0.20044	0.020000	0.16555	0.181000	0.23173	0.902000	0.28459	1.216000	0.43427	0.561000	0.74099	GAA		0.587	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		NM_001025930.2		16	55	0	0	0	1	0	16	55				
ZNF668	79759	broad.mit.edu	37	16	31072858	31072858	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr16:31072858G>A	ENST00000538906.1	-	3	2175	c.1391C>T	c.(1390-1392)cCg>cTg	p.P464L	ZNF668_ENST00000539836.3_Missense_Mutation_p.P487L|ZNF668_ENST00000394983.2_Missense_Mutation_p.P464L|ZNF668_ENST00000417110.2_Missense_Mutation_p.G16R|ZNF668_ENST00000426488.2_Missense_Mutation_p.P487L|ZNF668_ENST00000300849.4_Missense_Mutation_p.P464L|ZNF668_ENST00000535577.1_Missense_Mutation_p.P464L	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	464					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						ACCTGACTCCGGGGGCAGCCC	0.697																																					Colon(181;1111 1980 5060 10512 25785)	uc021tgt.1																			0				breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(1459-1461)cCg>cTg		Homo sapiens zinc finger protein 668 (ZNF668), transcript variant 3, mRNA.							59.0	64.0	62.0					16																	31072858		2197	4300	6497	SO:0001583	missense	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31072858G>A		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1391C>T	16.37:g.31072858G>A	ENSP00000440149:p.Pro464Leu		Somatic				ZNF668_uc010cag.2_Missense_Mutation_p.P464L|ZNF668_uc010caf.3_Missense_Mutation_p.P464L|ZNF668_uc002eao.3_Missense_Mutation_p.P464L	p.P487L	NM_001172669	NP_078982	WXS	Illumina GAIIx	Phase_I	Q96K58	ZN668_HUMAN			3	1816	-			464					C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	c.1460C>T	CCDS10701.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.057|9.057	0.993635|0.993635	0.19043|0.19043	.|.	.|.	ENSG00000232748|ENSG00000167394	ENST00000417110|ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	.|T;T;T;T;T	.|0.07688	.|3.17;3.18;3.18;3.18;3.18	4.81|4.81	4.81|4.81	0.61882|0.61882	.|.	.|0.352102	.|0.26963	.|N	.|0.021608	T|T	0.04452|0.04452	0.0122|0.0122	N|N	0.08118|0.08118	0|0	0.25494|0.25494	N|N	0.987613|0.987613	.|B	.|0.18610	.|0.029	.|B	.|0.06405	.|0.002	T|T	0.29243|0.29243	-1.0018|-1.0018	6|10	0.87932|0.46703	D|T	0|0.11	-9.9906|-9.9906	8.9193|8.9193	0.35601|0.35601	0.0986:0.0:0.9014:0.0|0.0986:0.0:0.9014:0.0	.|.	.|464	.|Q96K58	.|ZN668_HUMAN	R|L	16|487;464;464;464;464	.|ENSP00000442573:P487L;ENSP00000441349:P464L;ENSP00000440149:P464L;ENSP00000378434:P464L;ENSP00000300849:P464L	ENSP00000391989:G16R|ENSP00000300849:P464L	G|P	+|-	1|2	0|0	AC135050.1|ZNF668	30980359|30980359	0.702000|0.702000	0.27816|0.27816	0.497000|0.497000	0.27552|0.27552	0.971000|0.971000	0.66376|0.66376	3.598000|3.598000	0.54038|0.54038	2.523000|2.523000	0.85059|0.85059	0.561000|0.561000	0.74099|0.74099	GGG|CCG		0.697	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		31	65	0	0	0	1	0	31	65				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	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		23	36	0	0	0	1	0	23	36				
IGHV1-46	28465	broad.mit.edu	37	14	106967198	106967198	+	RNA	SNP	C	C	T			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr14:106967198C>T	ENST00000390622.2	-	0	505									immunoglobulin heavy variable 1-46																		TTGATTATTCCCATCCACTCA	0.547																																						uc021ser.1																			0													Parts of antibodies, mostly variable regions.							151.0	145.0	147.0					14																	106967198		1999	4171	6170			0							g.chr14:106967198C>T	X92343		14q32.33	2012-02-08			ENSG00000211962	ENSG00000211962		"""Immunoglobulins / IGH locus"""	5554	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151963		14.37:g.106967198C>T			Somatic								WXS	Illumina GAIIx	Phase_I					263		-									RNA	SNP	ENST00000390622.2	37	c.10302G>A																																																																																					0.547	IGHV1-46-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324609.1	NG_001019		34	90	0	0	0	1	0	34	90				
ITGA8	8516	broad.mit.edu	37	10	15688984	15688984	+	Silent	SNP	T	T	C			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr10:15688984T>C	ENST00000378076.3	-	12	1421	c.1068A>G	c.(1066-1068)gaA>gaG	p.E356E		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	356					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TTTGCCCTACTTCTCTGGGGT	0.502																																						uc001ioc.1																			0				NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(1066-1068)gaA>gaG		Homo sapiens integrin, alpha 8 (ITGA8), mRNA.							124.0	111.0	116.0					10																	15688984		2203	4300	6503	SO:0001819	synonymous_variant	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15688984T>C	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1068A>G	10.37:g.15688984T>C			Somatic				ITGA8_uc010qcb.1_Silent_p.E341E	p.E356E	NM_003638	NP_003629	WXS	Illumina GAIIx	Phase_I	P53708	ITA8_HUMAN			11	1068	-			356					B0YJ31|Q5VX94	Silent	SNP	ENST00000378076.3	37	c.1068A>G	CCDS31155.1																																																																																				0.502	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		8	60	0	0	0	1	0	8	60				
IL7R	3575	broad.mit.edu	37	5	35874644	35874644	+	Splice_Site	SNP	G	G	T			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr5:35874644G>T	ENST00000303115.3	+	6	929	c.800G>T	c.(799-801)aGg>aTg	p.R267M	IL7R_ENST00000506850.1_Intron|IL7R_ENST00000343305.4_Intron	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	267					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TGGAAAAAAAGGTGACCTTCT	0.423			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																															uc003jjs.3				Dom	yes		5	5p13	146661	"""Mis, O"""	interleukin 7 receptor	yes	Severe combined immune deficiency	L			"""ALL, ETP ALL"""		0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126						c.e6+1		Homo sapiens interleukin 7 receptor (IL7R), mRNA.							161.0	143.0	149.0					5																	35874644		2203	4300	6503	SO:0001630	splice_region_variant	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35874644G>T	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.800+1G>T	5.37:g.35874644G>T			Somatic				IL7R_uc011coo.2_Intron|IL7R_uc011cop.2_Intron	p.R267_splice	NM_002185	NP_002176	WXS	Illumina GAIIx	Phase_I	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		6	889	+	all_lung(31;0.00015)		267					B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Splice_Site	SNP	ENST00000303115.3	37	c.800_splice	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387243	0.82902	.	.	ENSG00000168685	ENST00000303115	T	0.26373	1.74	5.97	5.97	0.96955	.	0.067296	0.56097	D	0.000025	T	0.48822	0.1521	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.41627	-0.9498	10	0.87932	D	0	-11.8377	15.9389	0.79739	0.0:0.0:1.0:0.0	.	267	P16871	IL7RA_HUMAN	M	267	ENSP00000306157:R267M	ENSP00000306157:R267M	R	+	2	0	IL7R	35910401	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.942000	0.63547	2.836000	0.97738	0.655000	0.94253	AGG		0.423	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2		Missense_Mutation	33	51	0	0	0	1	0	33	51				
TRO	7216	broad.mit.edu	37	X	54955736	54955736	+	Missense_Mutation	SNP	G	G	T			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chrX:54955736G>T	ENST00000173898.7	+	12	2691	c.2579G>T	c.(2578-2580)aGt>aTt	p.S860I	TRO_ENST00000375022.4_Intron|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000319167.8_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.S463I|TRO_ENST00000420798.2_Missense_Mutation_p.S391I|TRO_ENST00000399736.1_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	860	62 X 10 AA approximate tandem repeats.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GCTGGCTTTAGTGGTGTACTC	0.562																																						uc004dtq.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(2578-2580)aGt>aTt		Homo sapiens trophinin (TRO), transcript variant 6, mRNA.							43.0	39.0	41.0					X																	54955736		2157	4236	6393	SO:0001583	missense	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54955736G>T	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.2579G>T	X.37:g.54955736G>T	ENSP00000173898:p.Ser860Ile		Somatic				TRO_uc004dts.3_Intron|TRO_uc004dtr.3_Intron|TRO_uc004dtt.3_Intron|TRO_uc004dtu.3_Intron|TRO_uc004dtv.3_Intron|TRO_uc011mok.2_Missense_Mutation_p.S391I|TRO_uc004dtw.3_Missense_Mutation_p.S463I|TRO_uc004dtx.3_Missense_Mutation_p.S243I	p.S860I	NM_001039705	NP_001034794	WXS	Illumina GAIIx	Phase_I	Q12816	TROP_HUMAN			11	2686	+			860			62 X 10 AA approximate tandem repeats.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	c.2579G>T	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.432499	0.25813	.	.	ENSG00000067445	ENST00000173898;ENST00000420798;ENST00000375041	T;T;T	0.33216	1.73;1.42;1.73	2.84	1.97	0.26223	.	.	.	.	.	T	0.24624	0.0597	L	0.39898	1.24	0.21105	N	0.999785	P;P	0.45348	0.61;0.856	B;B	0.41271	0.159;0.352	T	0.10382	-1.0632	9	0.72032	D	0.01	.	7.4063	0.26993	0.144:0.0:0.856:0.0	.	463;860	B1AKE9;Q12816	.;TROP_HUMAN	I	860;391;463	ENSP00000173898:S860I;ENSP00000405126:S391I;ENSP00000364181:S463I	ENSP00000173898:S860I	S	+	2	0	TRO	54972461	0.047000	0.20315	0.024000	0.17045	0.231000	0.25187	1.662000	0.37418	0.596000	0.29794	0.556000	0.70494	AGT		0.562	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		15	24	0	0	0	1	0	15	24				
CSMD3	114788	broad.mit.edu	37	8	113358377	113358377	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr8:113358377A>G	ENST00000297405.5	-	41	6635	c.6391T>C	c.(6391-6393)Tat>Cat	p.Y2131H	CSMD3_ENST00000343508.3_Missense_Mutation_p.Y2091H|CSMD3_ENST00000352409.3_Missense_Mutation_p.Y2061H|CSMD3_ENST00000455883.2_Missense_Mutation_p.Y2027H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2131	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGCTGGGATAGTTTCCAGGA	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.3																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(6391-6393)Tat>Cat		Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.							115.0	116.0	116.0					8																	113358377		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113358377A>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6391T>C	8.37:g.113358377A>G	ENSP00000297405:p.Tyr2131His	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	Somatic				CSMD3_uc003yns.3_Missense_Mutation_p.Y1333H|CSMD3_uc003ynt.3_Missense_Mutation_p.Y2091H|CSMD3_uc011lhx.2_Missense_Mutation_p.Y2027H	p.Y2131H	NM_198123	NP_937756	WXS	Illumina GAIIx	Phase_I	Q7Z407	CSMD3_HUMAN			40	6550	-			2131			CUB 12.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.6391T>C	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.714452	0.89112	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	5.54	5.54	0.83059	CUB (5);	0.000000	0.64402	D	0.000002	T	0.74749	0.3757	H	0.99642	4.675	0.54753	D	0.999982	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.85822	0.1386	10	0.51188	T	0.08	.	15.8422	0.78857	1.0:0.0:0.0:0.0	.	2027;2131;2091	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	H	2091;2131;1401;2027;2061	ENSP00000345799:Y2091H;ENSP00000297405:Y2131H;ENSP00000341558:Y1401H;ENSP00000412263:Y2027H;ENSP00000343124:Y2061H	ENSP00000297405:Y2131H	Y	-	1	0	CSMD3	113427553	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.097000	0.94193	2.323000	0.78572	0.528000	0.53228	TAT		0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		41	62	0	0	0	1	0	41	62				
OR10A7	121364	broad.mit.edu	37	12	55615054	55615054	+	Silent	SNP	T	T	A			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr12:55615054T>A	ENST00000326258.1	+	1	246	c.246T>A	c.(244-246)ctT>ctA	p.L82L		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CAAAAATGCTTGTAGATCTAG	0.413																																						uc010spf.2																			0				endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						c.(244-246)ctT>ctA		Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.							216.0	210.0	212.0					12																	55615054		2203	4300	6503	SO:0001819	synonymous_variant	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615054T>A	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"""GPCR / Class A : Olfactory receptors"""	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.246T>A	12.37:g.55615054T>A			Somatic					p.L82L	NM_001005280	NP_001005280	WXS	Illumina GAIIx	Phase_I	Q8NGE5	O10A7_HUMAN			0	246	+			82					Q6IFD5|Q96R19	Silent	SNP	ENST00000326258.1	37	c.246T>A	CCDS31815.1																																																																																				0.413	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			90	123	0	0	0	1	0	90	123				
SLC35F1	222553	broad.mit.edu	37	6	118228990	118228992	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr6:118228990_118228992delGCG	ENST00000360388.4	+	1	302_304	c.101_103delGCG	c.(100-105)agcggc>agc	p.G38del		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	38					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GCCGAGGGCAGCGGCGGCGGCGG	0.744																																						uc003pxx.4																			0				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(100-105)agcggc>agc		Homo sapiens solute carrier family 35, member F1 (SLC35F1), mRNA.																																				SO:0001651	inframe_deletion	222553				transport	integral to membrane		g.chr6:118228990_118228992delGCG	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.101_103delGCG	6.37:g.118228999_118229001delGCG	ENSP00000353557:p.Gly38del		Somatic					p.G38del	NM_001029858	NP_001025029	WXS	Illumina GAIIx	Phase_I	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	0	302_304	+			38					E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	In_Frame_Del	DEL	ENST00000360388.4	37	c.101_103delGCG	CCDS34524.1																																																																																				0.744	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044		3	4						3	4	---	---	---	---
