#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
NLRP6	171389	broad.mit.edu	37	11	281566	281566	+	Missense_Mutation	SNP	A	A	G			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr11:281566A>G	ENST00000312165.5	+	4	1832	c.1832A>G	c.(1831-1833)gAg>gGg	p.E611G	NLRP6_ENST00000534750.1_Missense_Mutation_p.E611G	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGGAGGAGGAGGGAGAGGAG	0.662																																						uc010qvs.2																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(1831-1833)gAg>gGg		Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA.							76.0	89.0	84.0					11																	281566		2203	4299	6502	SO:0001583	missense	171389					cytoplasm	ATP binding	g.chr11:281566A>G	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1832A>G	11.37:g.281566A>G	ENSP00000309767:p.Glu611Gly		Somatic				NLRP6_uc010qvt.2_Missense_Mutation_p.E611G	p.E611G	NM_138329	NP_612202	WXS	Illumina GAIIx	Phase_I	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	3	1832	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	611			Poly-Glu.		A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	c.1832A>G	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.454845	0.26161	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.75367	-0.93;-0.9	3.22	3.22	0.36961	.	0.671525	0.12247	N	0.485944	T	0.80204	0.4580	L	0.57536	1.79	0.32256	N	0.570815	D;D	0.71674	0.998;0.998	D;D	0.72982	0.979;0.979	T	0.76013	-0.3114	10	0.21540	T	0.41	.	8.1671	0.31233	1.0:0.0:0.0:0.0	.	611;611	E9PJZ8;P59044	.;NALP6_HUMAN	G	611	ENSP00000433617:E611G;ENSP00000309767:E611G	ENSP00000309767:E611G	E	+	2	0	NLRP6	271566	0.811000	0.29063	0.618000	0.29105	0.573000	0.36030	0.753000	0.26376	1.704000	0.51252	0.379000	0.24179	GAG		0.662	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		5	198	0	0	0	1	0	5	198				
CCDC96	257236	broad.mit.edu	37	4	7043726	7043726	+	Missense_Mutation	SNP	G	G	A	rs200146451		TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr4:7043726G>A	ENST00000310085.4	-	1	1002	c.940C>T	c.(940-942)Cgg>Tgg	p.R314W	TADA2B_ENST00000310074.7_5'Flank|TADA2B_ENST00000512388.1_5'Flank|RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	314										endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						TGGCACTGCCGCTTCAACTGG	0.617																																						uc003gjv.2																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						c.(940-942)Cgg>Tgg		Homo sapiens coiled-coil domain containing 96 (CCDC96), mRNA.							77.0	80.0	79.0					4																	7043726		2202	4300	6502	SO:0001583	missense	257236							g.chr4:7043726G>A	AK075056	CCDS3395.1	4p16.1	2008-02-05			ENSG00000173013	ENSG00000173013			26900	protein-coding gene	gene with protein product							Standard	NM_153376		Approved	FLJ90575	uc003gjv.2	Q2M329	OTTHUMG00000125511	ENST00000310085.4:c.940C>T	4.37:g.7043726G>A	ENSP00000309285:p.Arg314Trp		Somatic				LOC100129931_uc021xld.1_Intron|TADA2B_uc003gjw.4_5'Flank|TADA2B_uc010idi.3_5'Flank	p.R314W	NM_153376	NP_699207	WXS	Illumina GAIIx	Phase_I	Q2M329	CCD96_HUMAN			0	1003	-			314					Q8N2I7	Missense_Mutation	SNP	ENST00000310085.4	37	c.940C>T	CCDS3395.1	.	.	.	.	.	.	.	.	.	.	G	6.624	0.483613	0.12581	.	.	ENSG00000173013	ENST00000310085	T	0.45276	0.9	3.89	0.865	0.19074	.	0.733045	0.12027	N	0.506360	T	0.21590	0.0520	N	0.08118	0	0.41440	D	0.987917	D	0.54207	0.965	B	0.41299	0.353	T	0.04229	-1.0967	10	0.72032	D	0.01	-14.7618	7.5905	0.28019	0.0:0.3534:0.2231:0.4236	.	314	Q2M329	CCD96_HUMAN	W	314	ENSP00000309285:R314W	ENSP00000309285:R314W	R	-	1	2	CCDC96	7094627	0.012000	0.17670	0.772000	0.31596	0.023000	0.10783	-0.006000	0.12833	-0.058000	0.13177	-0.521000	0.04368	CGG		0.617	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246838.1	NM_153376		4	229	0	0	0	1	0	4	229				
SUPT6H	6830	broad.mit.edu	37	17	27024043	27024043	+	Silent	SNP	G	G	A			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr17:27024043G>A	ENST00000314616.6	+	30	4435	c.4152G>A	c.(4150-4152)cgG>cgA	p.R1384R	SUPT6H_ENST00000347486.4_Silent_p.R1384R	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1384	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TGGATGTGCGGGAGGAGGGCA	0.572																																						uc010crt.3																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4150-4152)cgG>cgA		Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.							112.0	89.0	97.0					17																	27024043		2203	4300	6503	SO:0001819	synonymous_variant	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity	g.chr17:27024043G>A	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.4152G>A	17.37:g.27024043G>A			Somatic				SUPT6H_uc002hby.3_Silent_p.R1384R	p.R1384R	NM_003170	NP_003161	WXS	Illumina GAIIx	Phase_I	Q7KZ85	SPT6H_HUMAN			30	4344	+	Lung NSC(42;0.00431)		1384			SH2.		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	ENST00000314616.6	37	c.4152G>A	CCDS32596.1																																																																																				0.572	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		3	118	0	0	0	1	0	3	118				
MYO5C	55930	broad.mit.edu	37	15	52521333	52521333	+	Silent	SNP	G	G	C			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr15:52521333G>C	ENST00000261839.7	-	25	3365	c.3204C>G	c.(3202-3204)gtC>gtG	p.V1068V		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1068						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GCTCTACCTTGACCTGCTTGC	0.532																																						uc010bff.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(3202-3204)gtC>gtG		Homo sapiens myosin VC (MYO5C), mRNA.							131.0	133.0	132.0					15																	52521333		1957	4129	6086	SO:0001819	synonymous_variant	55930					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	g.chr15:52521333G>C	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.3204C>G	15.37:g.52521333G>C			Somatic				MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript	p.V1068V	NM_018728	NP_061198	WXS	Illumina GAIIx	Phase_I	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	24	3366	-			1068					Q6P1W8	Silent	SNP	ENST00000261839.7	37	c.3204C>G	CCDS42036.1																																																																																				0.532	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		80	162	0	0	0	1	0	80	162				
SCAF11	9169	broad.mit.edu	37	12	46322574	46322574	+	Missense_Mutation	SNP	T	T	A			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr12:46322574T>A	ENST00000369367.3	-	11	1143	c.910A>T	c.(910-912)Aca>Tca	p.T304S	SCAF11_ENST00000549162.1_Missense_Mutation_p.T112S|SCAF11_ENST00000465950.1_5'UTR|SCAF11_ENST00000419565.2_Missense_Mutation_p.T304S	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	304					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GTATTTGATGTACCAGAAGTT	0.378																																						uc001rox.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(910-912)Aca>Tca		Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA.							136.0	135.0	135.0					12																	46322574		2203	4300	6503	SO:0001583	missense	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46322574T>A	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.910A>T	12.37:g.46322574T>A	ENSP00000358374:p.Thr304Ser		Somatic				SCAF11_uc001row.3_5'UTR|SCAF11_uc001roy.1_Missense_Mutation_p.T378S	p.T304S	NM_004719	NP_004710	WXS	Illumina GAIIx	Phase_I	Q99590	SCAFB_HUMAN			10	1197	-			304					A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	c.910A>T	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	T	16.87	3.241894	0.58995	.	.	ENSG00000139218	ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T	0.40756	1.02;1.28;1.02;1.02	6.07	0.578	0.17391	.	0.159035	0.29046	U	0.013318	T	0.25644	0.0624	L	0.32530	0.975	0.19775	N	0.99996	B;B	0.26081	0.141;0.028	B;B	0.30495	0.116;0.008	T	0.16867	-1.0388	10	0.19590	T	0.45	-2.1632	4.2341	0.10616	0.2434:0.2833:0.0:0.4734	.	112;304	F8VXG7;Q99590	.;SCAFB_HUMAN	S	304;112;304;244	ENSP00000358374:T304S;ENSP00000448864:T112S;ENSP00000413036:T304S;ENSP00000446746:T244S	ENSP00000358374:T304S	T	-	1	0	SCAF11	44608841	0.972000	0.33761	0.184000	0.23157	0.995000	0.86356	0.692000	0.25482	-0.114000	0.11936	0.477000	0.44152	ACA		0.378	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		8	135	0	0	0	1	0	8	135				
SSH3	54961	broad.mit.edu	37	11	67076991	67076991	+	Silent	SNP	G	G	A	rs149398055		TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr11:67076991G>A	ENST00000308127.4	+	11	1363	c.1185G>A	c.(1183-1185)acG>acA	p.T395T	SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000308298.7_Intron|SSH3_ENST00000376757.5_Silent_p.T395T	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	395	Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGAAGGAGACGCACCGCTTCA	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		21759	0.0		0.001	False		,,,				2504	0.0					uc001okj.3																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1183-1185)acG>acA		Homo sapiens slingshot homolog 3 (Drosophila) (SSH3), mRNA.		G		0,4400		0,0,2200	69.0	60.0	63.0		1185	-8.4	0.4	11	dbSNP_134	63	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous	SSH3	NM_017857.3		0,1,6494	AA,AG,GG		0.0116,0.0,0.0077		395/660	67076991	1,12989	2200	4295	6495	SO:0001819	synonymous_variant	54961				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:67076991G>A	AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30581	protein-coding gene	gene with protein product		606780	"""slingshot homolog 3 (Drosophila)"""			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.1185G>A	11.37:g.67076991G>A			Somatic				SSH3_uc001okk.3_Non-coding_Transcript|SSH3_uc001okl.3_Silent_p.T249T	p.T395T	NM_017857	NP_060327	WXS	Illumina GAIIx	Phase_I	Q8TE77	SSH3_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		10	1363	+			395			Tyrosine-protein phosphatase.		Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Silent	SNP	ENST00000308127.4	37	c.1185G>A	CCDS8157.1																																																																																				0.637	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276		3	55	0	0	0	1	0	3	55				
SPEF2	79925	broad.mit.edu	37	5	35700753	35700753	+	Missense_Mutation	SNP	C	C	T			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr5:35700753C>T	ENST00000356031.3	+	16	2451	c.2297C>T	c.(2296-2298)gCg>gTg	p.A766V	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Missense_Mutation_p.A761V|SPEF2_ENST00000440995.2_Missense_Mutation_p.A761V	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	766					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATTGATCCTGCGACTTCCAAA	0.383																																						uc003jjo.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(2296-2298)gCg>gTg		Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.							148.0	130.0	136.0					5																	35700753		1840	4088	5928	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35700753C>T	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.2297C>T	5.37:g.35700753C>T	ENSP00000348314:p.Ala766Val		Somatic				SPEF2_uc003jjq.4_Missense_Mutation_p.A761V|SPEF2_uc003jjp.1_Missense_Mutation_p.A252V	p.A766V	NM_024867	NP_079143	WXS	Illumina GAIIx	Phase_I	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		15	2408	+	all_lung(31;7.56e-05)		766					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.2297C>T	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	C	5.236	0.229059	0.09916	.	.	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995;ENST00000504054	T;T;T;T	0.31510	3.38;3.23;3.37;1.49	5.67	2.93	0.34026	.	0.575006	0.18100	N	0.151701	T	0.15825	0.0381	N	0.12182	0.205	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.0;0.002;0.0	T	0.18967	-1.0320	10	0.37606	T	0.19	.	7.2126	0.25941	0.0:0.5939:0.2605:0.1456	.	761;761;766	D6REZ4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	V	766;761;761;272	ENSP00000348314:A766V;ENSP00000421593:A761V;ENSP00000412125:A761V;ENSP00000421744:A272V	ENSP00000348314:A766V	A	+	2	0	SPEF2	35736510	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.085000	0.11250	0.326000	0.23384	-0.244000	0.11960	GCG		0.383	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		3	68	0	0	0	1	0	3	68				
CSMD2	114784	broad.mit.edu	37	1	34164511	34164511	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr1:34164511G>A	ENST00000373380.1	-	3	606	c.386C>T	c.(385-387)aCc>aTc	p.T129I	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.T1256I			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1216	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AAACTTGGGGGTTCCTGGGTC	0.517																																						uc001bxm.1																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(3766-3768)aCc>aTc		Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.							64.0	61.0	62.0					1																	34164511		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34164511G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.386C>T	1.37:g.34164511G>A	ENSP00000362478:p.Thr129Ile		Somatic				CSMD2_uc001bxn.1_Missense_Mutation_p.T1216I|CSMD2_uc001bxo.1_Missense_Mutation_p.T129I	p.T1256I	NM_052896	NP_443128	WXS	Illumina GAIIx	Phase_I	Q7Z408	CSMD2_HUMAN			23	3944	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1216			Sushi 7.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.3767C>T		.	.	.	.	.	.	.	.	.	.	G	1.537	-0.542838	0.04053	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.65178	-0.14;-0.14	5.76	2.42	0.29668	Complement control module (2);Sushi/SCR/CCP (3);	0.260649	0.38111	N	0.001819	T	0.28200	0.0696	N	0.03084	-0.415	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.10450	0.005;0.002;0.004	T	0.24190	-1.0167	10	0.02654	T	1	.	5.6913	0.17831	0.4503:0.0:0.5496:0.0	.	129;1216;1256	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	I	1256;129	ENSP00000362479:T1256I;ENSP00000362478:T129I	ENSP00000241312:T1216I	T	-	2	0	CSMD2	33937098	1.000000	0.71417	0.990000	0.47175	0.572000	0.35998	6.441000	0.73439	0.909000	0.36697	-0.133000	0.14855	ACC		0.517	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		3	74	0	0	0	1	0	3	74				
ALK	238	broad.mit.edu	37	2	29474098	29474098	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr2:29474098G>A	ENST00000389048.3	-	12	2983	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	693					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GGGCCATGGGGCCCGCTGGCC	0.642			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc002rmy.3			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	"""T, Mis, A"""	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	neuroblastoma	"""ALCL, NSCLC, Neuroblastoma"""	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	0				NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340						c.(2077-2079)Ccc>Tcc		Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	Adenosine triphosphate(DB00171)						38.0	40.0	40.0					2																	29474098		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29474098G>A	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.2077C>T	2.37:g.29474098G>A	ENSP00000373700:p.Pro693Ser		Somatic					p.P693S	NM_004304	NP_004295	WXS	Illumina GAIIx	Phase_I	Q9UM73	ALK_HUMAN			11	3029	-	Acute lymphoblastic leukemia(172;0.155)		693					Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.2077C>T	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.577008	0.65878	.	.	ENSG00000171094	ENST00000389048	T	0.77358	-1.09	5.19	5.19	0.71726	.	0.145747	0.31673	N	0.007250	D	0.82591	0.5070	M	0.62723	1.935	0.80722	D	1	D	0.58620	0.983	P	0.52598	0.703	T	0.82271	-0.0540	9	.	.	.	.	18.723	0.91703	0.0:0.0:1.0:0.0	.	693	Q9UM73	ALK_HUMAN	S	693	ENSP00000373700:P693S	.	P	-	1	0	ALK	29327602	1.000000	0.71417	0.963000	0.40424	0.229000	0.25112	6.362000	0.73077	2.583000	0.87209	0.561000	0.74099	CCC		0.642	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		3	28	0	0	0	1	0	3	28				
SCN5A	6331	broad.mit.edu	37	3	38591931	38591931	+	Missense_Mutation	SNP	C	C	G			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr3:38591931C>G	ENST00000333535.4	-	28	6081	c.5932G>C	c.(5932-5934)Gac>Cac	p.D1978H	SCN5A_ENST00000413689.1_Missense_Mutation_p.D1978H|SCN5A_ENST00000443581.1_Missense_Mutation_p.D1977H|SCN5A_ENST00000425664.1_Missense_Mutation_p.D1960H|SCN5A_ENST00000450102.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000451551.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000423572.2_Missense_Mutation_p.D1977H|SCN5A_ENST00000414099.2_Missense_Mutation_p.D1960H|SCN5A_ENST00000455624.2_Missense_Mutation_p.D1945H|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000449557.2_Missense_Mutation_p.D1924H			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1978					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GTGACACTGTCATAGGAGGGT	0.602																																						uc021wvo.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(5932-5934)Gac>Cac		Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						42.0	47.0	45.0					3																	38591931		2022	4172	6194	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38591931C>G	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5932G>C	3.37:g.38591931C>G	ENSP00000328968:p.Asp1978His		Somatic				SCN5A_uc021wvk.1_Missense_Mutation_p.D1945H|SCN5A_uc021wvl.1_Missense_Mutation_p.D1924H|SCN5A_uc021wvm.1_Missense_Mutation_p.D1960H|SCN5A_uc021wvn.1_Missense_Mutation_p.D1977H|SCN5A_uc021wvp.1_Missense_Mutation_p.D1978H|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.D1790H|SCN5A_uc021wvi.1_Missense_Mutation_p.D1844H	p.D1978H	NM_198056	NP_932173	WXS	Illumina GAIIx	Phase_I	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	26	5984	-	Medulloblastoma(35;0.163)		1978					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.5932G>C	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.565807	0.65651	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96856	-4.02;-4.03;-4.03;-4.08;-4.03;-4.02;-4.03;-4.15;-4.08;-4.08	4.95	4.95	0.65309	.	0.058474	0.64402	D	0.000003	D	0.95529	0.8547	N	0.08118	0	0.54753	D	0.999986	D;D;P;D;D;D	0.89917	0.959;1.0;0.64;0.999;0.958;1.0	P;D;B;D;P;D	0.85130	0.496;0.997;0.387;0.973;0.693;0.996	D	0.97067	0.9775	10	0.62326	D	0.03	.	18.3714	0.90408	0.0:1.0:0.0:0.0	.	1924;1945;1960;1978;1977;1978	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	H	1960;1977;1978;1924;1977;1960;1978;1945;1924;1924	ENSP00000398962:D1960H;ENSP00000398266:D1977H;ENSP00000410257:D1978H;ENSP00000388797:D1924H;ENSP00000397915:D1977H;ENSP00000416634:D1960H;ENSP00000328968:D1978H;ENSP00000399524:D1945H;ENSP00000403355:D1924H;ENSP00000413996:D1924H	ENSP00000328968:D1978H	D	-	1	0	SCN5A	38566935	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	4.781000	0.62389	2.573000	0.86826	0.655000	0.94253	GAC		0.602	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		3	68	0	0	0	1	0	3	68				
LONP1	9361	broad.mit.edu	37	19	5699184	5699184	+	Silent	SNP	G	G	A	rs202108466		TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr19:5699184G>A	ENST00000360614.3	-	10	1696	c.1539C>T	c.(1537-1539)tcC>tcT	p.S513S	LONP1_ENST00000540670.2_Silent_p.S317S|LONP1_ENST00000585374.1_Silent_p.S399S|LONP1_ENST00000590729.1_Silent_p.S383S|LONP1_ENST00000593119.1_Silent_p.S449S	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial											breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGCCCTGGGTGGAGCCGCGGA	0.647																																						uc002mcx.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1537-1539)tcC>tcT		Homo sapiens lon peptidase 1, mitochondrial (LONP1), nuclear gene encoding mitochondrial protein, mRNA.							47.0	48.0	48.0					19																	5699184		2203	4300	6503	SO:0001819	synonymous_variant	9361				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	g.chr19:5699184G>A	U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365		"""ATPases / AAA-type"", ""Serine peptidases / Serine peptidases"""	9479	protein-coding gene	gene with protein product		605490	"""protease, serine, 15"""	PRSS15		8248235, 8119403	Standard	NM_004793		Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.1539C>T	19.37:g.5699184G>A			Somatic				LONP1_uc002mcy.3_Silent_p.S449S|LONP1_uc010duh.3_Silent_p.S254S|LONP1_uc010dui.3_Silent_p.S497S|LONP1_uc002mcz.3_Silent_p.S317S	p.S513S	NM_004793	NP_004784	WXS	Illumina GAIIx	Phase_I	P36776	LONM_HUMAN			9	1572	-			513						Silent	SNP	ENST00000360614.3	37	c.1539C>T	CCDS12148.1																																																																																				0.647	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451662.1	NM_004793		3	115	0	0	0	1	0	3	115				
NCK1	4690	broad.mit.edu	37	3	136646925	136646925	+	Missense_Mutation	SNP	A	A	G			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr3:136646925A>G	ENST00000481752.1	+	2	246	c.82A>G	c.(82-84)Aga>Gga	p.R28G	NCK1_ENST00000288986.2_Missense_Mutation_p.R28G|NCK1_ENST00000469404.1_5'Flank			P16333	NCK1_HUMAN	NCK adaptor protein 1	28	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|response to other organism (GO:0051707)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|protein kinase inhibitor activity (GO:0004860)|receptor binding (GO:0005102)|receptor signaling complex scaffold activity (GO:0030159)|receptor tyrosine kinase binding (GO:0030971)			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						GAAGAATGAGAGATTATGGCT	0.418																																						uc003erh.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(82-84)Aga>Gga		Homo sapiens NCK adaptor protein 1 (NCK1), transcript variant 1, mRNA.							129.0	119.0	122.0					3																	136646925		2203	4300	6503	SO:0001583	missense	4690				T cell activation|T cell receptor signaling pathway|axon guidance|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|regulation of translation|signal complex assembly	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity	g.chr3:136646925A>G	X17576	CCDS3092.1, CCDS54644.1	3q21	2013-02-14			ENSG00000158092	ENSG00000158092		"""SH2 domain containing"""	7664	protein-coding gene	gene with protein product		600508		NCK		7806213, 9737977	Standard	XM_005247498		Approved	NCKalpha	uc003erh.3	P16333	OTTHUMG00000159781	ENST00000481752.1:c.82A>G	3.37:g.136646925A>G	ENSP00000417273:p.Arg28Gly		Somatic				NCK1_uc011bme.2_5'Flank	p.R28G	NM_006153	NP_006144	WXS	Illumina GAIIx	Phase_I	P16333	NCK1_HUMAN			1	212	+			28			SH3 1.		B7Z751|D3DNE3	Missense_Mutation	SNP	ENST00000481752.1	37	c.82A>G	CCDS3092.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.919631	0.73098	.	.	ENSG00000158092	ENST00000288986;ENST00000481752;ENST00000491539;ENST00000485096;ENST00000476286;ENST00000488930	T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79	5.98	4.8	0.61643	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.72953	0.3525	M	0.93594	3.435	0.80722	D	1	D	0.56746	0.977	D	0.67231	0.95	T	0.76756	-0.2842	10	0.51188	T	0.08	-8.0274	10.3723	0.44062	0.6833:0.3167:0.0:0.0	.	28	P16333	NCK1_HUMAN	G	28	ENSP00000288986:R28G;ENSP00000417273:R28G;ENSP00000419302:R28G;ENSP00000419677:R28G;ENSP00000418513:R28G;ENSP00000417729:R28G	ENSP00000288986:R28G	R	+	1	2	NCK1	138129615	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.122000	0.57910	1.036000	0.39998	0.533000	0.62120	AGA		0.418	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357307.1	NM_006153		36	52	0	0	0	1	0	36	52				
NOX5	79400	broad.mit.edu	37	15	69327795	69327795	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr15:69327795C>G	ENST00000388866.3	+	6	998	c.957C>G	c.(955-957)taC>taG	p.Y319*	NOX5_ENST00000455873.3_Nonsense_Mutation_p.Y284*|NOX5_ENST00000260364.5_Nonsense_Mutation_p.Y301*|NOX5_ENST00000530406.2_Nonsense_Mutation_p.Y291*|RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000448182.3_Nonsense_Mutation_p.Y273*	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	319	Ferric oxidoreductase.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TTATGGGCTACGTGGTAGTGG	0.607																																						uc002ars.2																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(955-957)taC>taG		Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.							102.0	68.0	79.0					15																	69327795		2200	4298	6498	SO:0001587	stop_gained	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity	g.chr15:69327795C>G	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.957C>G	15.37:g.69327795C>G	ENSP00000373518:p.Tyr319*		Somatic				MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Nonsense_Mutation_p.Y273*|NOX5_uc002arp.2_Nonsense_Mutation_p.Y301*|NOX5_uc010bid.2_Nonsense_Mutation_p.Y284*|NOX5_uc010bie.2_Nonsense_Mutation_p.Y119*|NOX5_uc002arr.2_Nonsense_Mutation_p.Y291*|NOX5_uc010bif.2_Non-coding_Transcript	p.Y319*	NM_024505	NP_078781	WXS	Illumina GAIIx	Phase_I	Q96PH1	NOX5_HUMAN			5	998	+			319			Ferric oxidoreductase.		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Nonsense_Mutation	SNP	ENST00000388866.3	37	c.957C>G	CCDS32276.2	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945914	0.53079	.	.	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	.	.	.	3.44	-3.36	0.04913	.	0.322034	0.29767	N	0.011257	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.502	6.4084	0.21678	0.0:0.3975:0.1299:0.4726	.	.	.	.	X	284;301;319;291	.	ENSP00000373518:Y319X	Y	+	3	2	NOX5	67114849	0.971000	0.33674	0.763000	0.31416	0.509000	0.34042	0.022000	0.13511	-0.701000	0.05063	-0.672000	0.03802	TAC		0.607	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		3	90	0	0	0	1	0	3	90				
DPH1	1801	broad.mit.edu	37	17	1944859	1944859	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr17:1944859G>A	ENST00000263083.6	+	11	1231	c.1186G>A	c.(1186-1188)Gtg>Atg	p.V396M	RP11-667K14.3_ENST00000572790.1_lincRNA|DPH1_ENST00000570477.1_Missense_Mutation_p.V316M|RP11-667K14.4_ENST00000572404.1_RNA|OVCA2_ENST00000572195.1_5'Flank	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	396					cell proliferation (GO:0008283)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						GCCCTGGACGGTGAACCACGG	0.731																																						uc010vqs.2																			0				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						c.(1216-1218)Gtg>Atg		Homo sapiens DPH1 homolog (S. cerevisiae) (DPH1), mRNA.							25.0	27.0	26.0					17																	1944859		1903	4102	6005	SO:0001583	missense	1801				peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus		g.chr17:1944859G>A	S81752	CCDS42228.1	17p13.3	2013-05-02	2013-05-02	2005-06-03	ENSG00000108963	ENSG00000108963			3003	protein-coding gene	gene with protein product	"""ovarian tumor suppressor candidate 1"""	603527	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae)"", ""DPH-like 1 (S. cerevisiae)"", ""DPH1 homolog (S. cerevisiae)"""	DPH2L, DPH2L1		8603384, 15485916, 22869748	Standard	NM_001383		Approved	OVCA1	uc002fts.3	Q9BZG8	OTTHUMG00000177724	ENST00000263083.6:c.1186G>A	17.37:g.1944859G>A	ENSP00000263083:p.Val396Met		Somatic				DPH1_uc002fts.3_Missense_Mutation_p.V396M|DPH1_uc002ftt.3_Missense_Mutation_p.V380M|DPH1_uc010cjx.3_Missense_Mutation_p.V256M|DPH1_uc002ftv.3_Missense_Mutation_p.V152M|DPH1_uc002ftw.3_Missense_Mutation_p.V124M|OVCA2_uc002ftx.3_5'Flank	p.V406M	NM_001383	NP_001374	WXS	Illumina GAIIx	Phase_I	Q9BZG8	DPH1_HUMAN			9	1222	+			396					D3DTI3|Q16439|Q4VBA2|Q9BTW7|Q9UCY0	Missense_Mutation	SNP	ENST00000263083.6	37	c.1216G>A	CCDS42228.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555206	0.65425	.	.	ENSG00000108963	ENST00000263083	T	0.32272	1.46	5.68	5.68	0.88126	.	0.294054	0.33040	N	0.005348	T	0.33089	0.0851	L	0.55481	1.735	0.30411	N	0.779062	B;B;B	0.33135	0.399;0.215;0.215	B;B;B	0.32465	0.101;0.146;0.101	T	0.35574	-0.9783	10	0.51188	T	0.08	-18.4066	16.9416	0.86219	0.0:0.0:1.0:0.0	.	406;406;396	E7ENH3;B4DNK0;Q9BZG8	.;.;DPH1_HUMAN	M	396	ENSP00000263083:V396M	ENSP00000263083:V396M	V	+	1	0	DPH1	1891609	1.000000	0.71417	0.970000	0.41538	0.863000	0.49368	3.973000	0.56845	2.684000	0.91462	0.555000	0.69702	GTG		0.731	DPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438660.1	NM_001383		3	57	0	0	0	1	0	3	57				
TMC1	117531	broad.mit.edu	37	9	75445596	75445596	+	Missense_Mutation	SNP	C	C	T			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr9:75445596C>T	ENST00000297784.5	+	23	2798	c.2258C>T	c.(2257-2259)gCa>gTa	p.A753V	TMC1_ENST00000396237.3_Missense_Mutation_p.A753V|TMC1_ENST00000340019.3_Missense_Mutation_p.A753V|TMC1_ENST00000486417.1_3'UTR	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	753	Poly-Ala.				auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GCTGCACGAGCAGGTTGGAGA	0.323																																					Pancreas(75;173 1345 14232 34245 43413)	uc004aiz.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(2257-2259)gCa>gTa		Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.							79.0	87.0	85.0					9																	75445596		2203	4300	6503	SO:0001583	missense	117531				sensory perception of sound	integral to membrane		g.chr9:75445596C>T	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.2258C>T	9.37:g.75445596C>T	ENSP00000297784:p.Ala753Val		Somatic				TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.A607V|TMC1_uc010mpa.1_Intron	p.A753V	NM_138691	NP_619636	WXS	Illumina GAIIx	Phase_I	Q8TDI8	TMC1_HUMAN			22	2798	+			753			Poly-Ala.		A8MVZ2|B1AM91	Missense_Mutation	SNP	ENST00000297784.5	37	c.2258C>T	CCDS6643.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673001	0.67928	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000537917;ENST00000542143;ENST00000396237	T;T;T	0.67523	-0.27;-0.27;-0.27	5.07	5.07	0.68467	.	0.174294	0.39985	N	0.001204	T	0.48314	0.1493	N	0.12182	0.205	0.40811	D	0.983425	P	0.47762	0.9	B	0.37387	0.248	T	0.55231	-0.8173	10	0.37606	T	0.19	-20.9557	17.9798	0.89137	0.0:1.0:0.0:0.0	.	753	Q8TDI8	TMC1_HUMAN	V	753;753;720;747;753	ENSP00000297784:A753V;ENSP00000341433:A753V;ENSP00000379538:A753V	ENSP00000297784:A753V	A	+	2	0	TMC1	74635416	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	4.382000	0.59594	2.790000	0.95986	0.650000	0.86243	GCA		0.323	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			8	20	0	0	0	1	0	8	20				
TRPM1	4308	broad.mit.edu	37	15	31327829	31327829	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr15:31327829G>A	ENST00000256552.6	-	21	2767	c.2620C>T	c.(2620-2622)Cgg>Tgg	p.R874W	TRPM1_ENST00000542188.1_Missense_Mutation_p.R891W|RP11-348B17.1_ENST00000558755.1_RNA|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.R852W	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CCATCCATCCGCACCAGGATG	0.517																																						uc021sia.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(2671-2673)Cgg>Tgg		Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.							106.0	108.0	107.0					15																	31327829		2020	4190	6210	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31327829G>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.2620C>T	15.37:g.31327829G>A	ENSP00000256552:p.Arg874Trp		Somatic				TRPM1_uc010azy.3_Missense_Mutation_p.R759W|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.R874W|TRPM1_uc001zfm.3_Missense_Mutation_p.R852W	p.R891W	NM_001252020	NP_001238949	WXS	Illumina GAIIx	Phase_I	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	19	2985	-		all_lung(180;1.92e-11)	852						Missense_Mutation	SNP	ENST00000256552.6	37	c.2671C>T	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.958305	0.73902	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.63417	-0.04;-0.04;-0.04	5.57	2.3	0.28687	.	0.059435	0.64402	D	0.000004	T	0.69205	0.3085	L	0.49126	1.545	0.39695	D	0.971101	D;D	0.76494	0.999;0.997	D;P	0.63957	0.92;0.834	T	0.71896	-0.4454	10	0.87932	D	0	-24.182	10.9168	0.47142	0.0:0.1002:0.5454:0.3544	.	846;852	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	W	852;891;874;852	ENSP00000380897:R852W;ENSP00000437849:R891W;ENSP00000256552:R874W	ENSP00000256552:R874W	R	-	1	2	TRPM1	29115121	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	3.415000	0.52700	0.678000	0.31325	0.655000	0.94253	CGG		0.517	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		4	116	0	0	0	1	0	4	116				
IL13	3596	broad.mit.edu	37	5	131995905	131995905	+	Silent	SNP	G	G	A			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr5:131995905G>A	ENST00000304506.3	+	4	386	c.372G>A	c.(370-372)gaG>gaA	p.E124E	AC004041.2_ENST00000435042.1_RNA|IL13_ENST00000468334.1_3'UTR	NM_002188.2	NP_002179.2	P35225	IL13_HUMAN	interleukin 13	124					cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|cellular response to cytokine stimulus (GO:0071345)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of lung ciliated cell differentiation (GO:1901247)|negative regulation of transforming growth factor beta production (GO:0071635)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of connective tissue growth factor production (GO:0032723)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of lung goblet cell differentiation (GO:1901251)|positive regulation of macrophage activation (GO:0043032)|positive regulation of pancreatic stellate cell proliferation (GO:2000231)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat6 protein (GO:0042526)|regulation of proton transport (GO:0010155)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			large_intestine(1)|lung(1)|ovary(1)|skin(3)	6		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCAAAATCGAGGTGGCCCAGT	0.478																																						uc003kxj.1																			0				large_intestine(1)|lung(1)|ovary(1)|skin(3)	6						c.(370-372)gaG>gaA		Homo sapiens interleukin 13 (IL13), mRNA.							94.0	88.0	90.0					5																	131995905		2203	4300	6503	SO:0001819	synonymous_variant	3596				cellular component movement|immune response|inflammatory response|signal transduction	extracellular space|soluble fraction	cytokine activity	g.chr5:131995905G>A	U31120	CCDS4157.1	5q31	2011-07-14			ENSG00000169194	ENSG00000169194		"""Interleukins and interleukin receptors"""	5973	protein-coding gene	gene with protein product	"""allergic rhinitis"", ""Bronchial hyperresponsiveness-1 (bronchial asthma)"""	147683					Standard	NM_002188		Approved	P600, IL-13, ALRH, BHR1, MGC116786, MGC116788, MGC116789	uc003kxj.1	P35225	OTTHUMG00000059723	ENST00000304506.3:c.372G>A	5.37:g.131995905G>A			Somatic					p.E124E	NM_002188	NP_002179	WXS	Illumina GAIIx	Phase_I	P35225	IL13_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	386	+		all_cancers(142;0.0751)|Breast(839;0.198)	124					O43644|Q4VB52|Q9UDC7	Silent	SNP	ENST00000304506.3	37	c.372G>A	CCDS4157.1																																																																																				0.478	IL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132782.1	NM_002188		3	56	0	0	0	1	0	3	56				
ANKRD26	22852	broad.mit.edu	37	10	27332479	27332479	+	Silent	SNP	C	C	T			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr10:27332479C>T	ENST00000376087.4	-	20	2202	c.2037G>A	c.(2035-2037)caG>caA	p.Q679Q	ANKRD26_ENST00000376070.3_Silent_p.Q236Q|ANKRD26_ENST00000436985.2_Silent_p.Q695Q	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	678					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CATCCATAGACTGTATTTGGT	0.348																																						uc009xku.1																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(2035-2037)caG>caA		Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.							77.0	71.0	73.0					10																	27332479		1843	4082	5925	SO:0001819	synonymous_variant	22852					centrosome		g.chr10:27332479C>T	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.2037G>A	10.37:g.27332479C>T			Somatic				ANKRD26_uc001itg.2_Silent_p.Q365Q|ANKRD26_uc001ith.2_Silent_p.Q678Q	p.Q679Q	NM_014915	NP_055730	WXS	Illumina GAIIx	Phase_I	Q9UPS8	ANR26_HUMAN			19	2209	-			678					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Silent	SNP	ENST00000376087.4	37	c.2037G>A	CCDS41499.1																																																																																				0.348	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			13	22	0	0	0	1	0	13	22				
