#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_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	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_NTotCov	i_NVarCov	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_TranscriptID	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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_dbSNPPopFreq	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
ARHGAP22	58504	ucsc.edu;bcgsc.ca	37	10	49667742	49667742	+	Missense_Mutation	SNP	T	T	C			TCGA-BC-A10X-01A-11D-A12Z-10	TCGA-BC-A10X-11A-11D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	36938443-c826-4abe-aaf6-dd7217b07f51	4285989b-f8d8-4ced-99a1-894ff2b37cf3	g.chr10:49667742T>C	ENST00000249601.4	-	5	940	c.644A>G	c.(643-645)aAg>aGg	p.K215R	ARHGAP22_ENST00000417247.2_Missense_Mutation_p.K125R|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.K221R|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.K231R|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.K125R|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.K106R	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	215	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AAACAGTGGCTTCTCCCCACA	0.627																																					p.K231R		.											.	ARHGAP22	228	0			c.A692G						.						204.0	186.0	192.0					10																	49667742		2203	4300	6503	SO:0001583	missense	58504	exon5			AGTGGCTTCTCCC	AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.644A>G	10.37:g.49667742T>C	ENSP00000249601:p.Lys215Arg	54.0	0.0		48.0	4.0	NM_001256024	A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Missense_Mutation	SNP	ENST00000249601.4	37	CCDS7227.1	.	.	.	.	.	.	.	.	.	.	T	16.01	3.001135	0.54254	.	.	ENSG00000128805	ENST00000249601;ENST00000374172;ENST00000374170;ENST00000417247;ENST00000435790;ENST00000417912	T;T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19;2.19	4.9	4.9	0.64082	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.18964	0.0455	N	0.12663	0.25	0.58432	D	0.999993	B;P;B;P;B	0.37141	0.005;0.584;0.181;0.584;0.004	B;P;B;P;B	0.48982	0.058;0.597;0.122;0.597;0.011	T	0.12218	-1.0556	10	0.12103	T	0.63	.	13.8597	0.63552	0.0:0.0:0.0:1.0	.	221;215;231;215;125	B4DED8;A6NDI7;Q7Z5H3-2;Q7Z5H3;Q7Z5H3-3	.;.;.;RHG22_HUMAN;.	R	215;106;125;125;221;231	ENSP00000249601:K215R;ENSP00000363287:K106R;ENSP00000363285:K125R;ENSP00000410054:K125R;ENSP00000416701:K221R;ENSP00000412461:K231R	ENSP00000249601:K215R	K	-	2	0	ARHGAP22	49337748	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.940000	0.56599	2.074000	0.62210	0.260000	0.18958	AAG	.		0.627	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226	
BBS9	27241	broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	33192380	33192380	+	Silent	SNP	A	A	G			TCGA-BC-A10X-01A-11D-A12Z-10	TCGA-BC-A10X-11A-11D-A12Z-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36938443-c826-4abe-aaf6-dd7217b07f51	4285989b-f8d8-4ced-99a1-894ff2b37cf3	g.chr7:33192380A>G	ENST00000242067.6	+	3	701	c.180A>G	c.(178-180)ggA>ggG	p.G60G	BBS9_ENST00000354265.4_Silent_p.G60G|BBS9_ENST00000396127.2_Silent_p.G60G|BBS9_ENST00000425508.2_Silent_p.G15G|BBS9_ENST00000355070.2_Silent_p.G60G|BBS9_ENST00000350941.3_Silent_p.G60G|BBS9_ENST00000482941.1_3'UTR	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	60					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			CAAAAACAGGAGATGGAGCTC	0.393									Bardet-Biedl syndrome																												p.G60G		.											.	BBS9	230	0			c.A180G						.						78.0	78.0	78.0					7																	33192380		2203	4300	6503	SO:0001819	synonymous_variant	27241	exon3	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AACAGGAGATGGA		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.180A>G	7.37:g.33192380A>G		62.0	0.0		51.0	5.0	NM_014451	E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Silent	SNP	ENST00000242067.6	37	CCDS43566.1																																																																																			.		0.393	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1		
DOK7	285489	broad.mit.edu;bcgsc.ca	37	4	3487277	3487277	+	Missense_Mutation	SNP	T	T	C			TCGA-BC-A10X-01A-11D-A12Z-10	TCGA-BC-A10X-11A-11D-A12Z-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36938443-c826-4abe-aaf6-dd7217b07f51	4285989b-f8d8-4ced-99a1-894ff2b37cf3	g.chr4:3487277T>C	ENST00000340083.5	+	5	609	c.544T>C	c.(544-546)Ttc>Ctc	p.F182L	DOK7_ENST00000507039.1_Missense_Mutation_p.L178P|DOK7_ENST00000389653.2_Missense_Mutation_p.F182L	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	182	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				neuromuscular junction development (GO:0007528)|positive regulation of protein tyrosine kinase activity (GO:0061098)|receptor clustering (GO:0043113)	cell junction (GO:0030054)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGCTGGCGTCTTCTTCCTGTC	0.647																																					p.F182L		.											.	DOK7	91	0			c.T544C						.						49.0	48.0	49.0					4																	3487277		2200	4299	6499	SO:0001583	missense	285489	exon5			GGCGTCTTCTTCC	AK091037	CCDS3370.2, CCDS54717.1	4p16.2	2014-09-17	2006-08-24	2006-08-24	ENSG00000175920	ENSG00000175920			26594	protein-coding gene	gene with protein product		610285	"""chromosome 4 open reading frame 25"""	C4orf25		16794080	Standard	NM_173660		Approved	FLJ33718, FLJ39137, Dok-7	uc003ghd.3	Q18PE1	OTTHUMG00000122087	ENST00000340083.5:c.544T>C	4.37:g.3487277T>C	ENSP00000344432:p.Phe182Leu	197.0	1.0		104.0	8.0	NM_173660	A2A499|A2RRD4|E9PB56|Q6P6A6|Q86XG5|Q8N2J3|Q8NBC1	Missense_Mutation	SNP	ENST00000340083.5	37	CCDS3370.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	13.57|13.57	2.277300|2.277300	0.40294|0.40294	.|.	.|.	ENSG00000175920|ENSG00000175920	ENST00000389653;ENST00000340083|ENST00000507039	T;T|D	0.76968|0.92149	-1.06;-1.06|-2.98	4.7|4.7	4.7|4.7	0.59300|0.59300	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.94331|0.94331	0.8178|0.8178	M|M	0.73962|0.73962	2.25|2.25	0.48762|0.48762	D|D	0.999703|0.999703	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.83275|.	0.99;0.996|.	D|D	0.94475|0.94475	0.7688|0.7688	10|7	0.66056|0.56958	D|D	0.02|0.05	-20.9433|-20.9433	13.3503|13.3503	0.60597|0.60597	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	44;182|.	Q18PE1-2;Q18PE1|.	.;DOK7_HUMAN|.	L|P	182|178	ENSP00000374304:F182L;ENSP00000344432:F182L|ENSP00000423614:L178P	ENSP00000344432:F182L|ENSP00000423614:L178P	F|L	+|+	1|2	0|0	DOK7|DOK7	3457075|3457075	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.649000|0.649000	0.38597|0.38597	7.264000|7.264000	0.78432|0.78432	1.734000|1.734000	0.51633|0.51633	0.454000|0.454000	0.30748|0.30748	TTC|CTT	.		0.647	DOK7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313538.1	NM_173660	
ERBB4	2066	broad.mit.edu;bcgsc.ca	37	2	212251837	212251837	+	Silent	SNP	T	T	C			TCGA-BC-A10X-01A-11D-A12Z-10	TCGA-BC-A10X-11A-11D-A12Z-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36938443-c826-4abe-aaf6-dd7217b07f51	4285989b-f8d8-4ced-99a1-894ff2b37cf3	g.chr2:212251837T>C	ENST00000342788.4	-	27	3532	c.3222A>G	c.(3220-3222)gaA>gaG	p.E1074E	ERBB4_ENST00000436443.1_Silent_p.E1058E|ERBB4_ENST00000402597.1_Silent_p.E1064E	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1074					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E1074E(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	ACACTCCTTGTTCAGCAGCAA	0.438										TSP Lung(8;0.080)																											p.E1074E		.											.	ERBB4	1461	1	Substitution - coding silent(1)	large_intestine(1)	c.A3222G						.						136.0	136.0	136.0					2																	212251837		2203	4300	6503	SO:0001819	synonymous_variant	2066	exon27			TCCTTGTTCAGCA	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3222A>G	2.37:g.212251837T>C		330.0	2.0		247.0	11.0	NM_005235	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Silent	SNP	ENST00000342788.4	37	CCDS2394.1																																																																																			.		0.438	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599	
FCGBP	8857	ucsc.edu;bcgsc.ca	37	19	40424149	40424149	+	Missense_Mutation	SNP	G	G	A			TCGA-BC-A10X-01A-11D-A12Z-10	TCGA-BC-A10X-11A-11D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	36938443-c826-4abe-aaf6-dd7217b07f51	4285989b-f8d8-4ced-99a1-894ff2b37cf3	g.chr19:40424149G>A	ENST00000221347.6	-	4	2061	c.2054C>T	c.(2053-2055)gCt>gTt	p.A685V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	685	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ATGGCAGACAGCGAAGGGGCC	0.647																																					p.A685V		.											.	FCGBP	98	0			c.C2054T						.						173.0	159.0	164.0					19																	40424149		2203	4300	6503	SO:0001583	missense	8857	exon4			CAGACAGCGAAGG	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.2054C>T	19.37:g.40424149G>A	ENSP00000221347:p.Ala685Val	81.0	1.0		66.0	6.0	NM_003890	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.410690	0.25465	.	.	ENSG00000090920	ENST00000221347	T	0.78595	-1.19	5.43	3.13	0.36017	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	0.909660	0.09200	N	0.834765	D	0.86973	0.6062	M	0.73598	2.24	0.09310	N	1	D	0.63880	0.993	D	0.66602	0.945	T	0.75351	-0.3348	10	0.49607	T	0.09	.	13.7646	0.62988	0.0:0.5069:0.4931:0.0	.	685	Q9Y6R7	FCGBP_HUMAN	V	685	ENSP00000221347:A685V	ENSP00000221347:A685V	A	-	2	0	FCGBP	45115989	0.000000	0.05858	0.068000	0.19968	0.003000	0.03518	0.086000	0.14935	1.256000	0.44068	0.650000	0.86243	GCT	.		0.647	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890	
GDAP2	54834	broad.mit.edu;bcgsc.ca	37	1	118441791	118441791	+	Silent	SNP	T	T	C			TCGA-BC-A10X-01A-11D-A12Z-10	TCGA-BC-A10X-11A-11D-A12Z-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36938443-c826-4abe-aaf6-dd7217b07f51	4285989b-f8d8-4ced-99a1-894ff2b37cf3	g.chr1:118441791T>C	ENST00000369443.5	-	7	933	c.684A>G	c.(682-684)aaA>aaG	p.K228K	GDAP2_ENST00000464026.1_5'Flank|GDAP2_ENST00000369442.3_Silent_p.K228K	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	228					response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		GATTCTCCTCTTTTAATGACC	0.423																																					p.K228K		.											.	GDAP2	92	0			c.A684G						.						152.0	135.0	141.0					1																	118441791		2203	4300	6503	SO:0001819	synonymous_variant	54834	exon7			CTCCTCTTTTAAT	AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505			18010	protein-coding gene	gene with protein product						1021725	Standard	NM_017686		Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.684A>G	1.37:g.118441791T>C		183.0	0.0		147.0	6.0	NM_017686	Q96DZ0	Silent	SNP	ENST00000369443.5	37	CCDS897.1																																																																																			.		0.423	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033732.2	NM_017686	
KIAA0195	9772	broad.mit.edu;bcgsc.ca	37	17	73488633	73488633	+	Missense_Mutation	SNP	T	T	C			TCGA-BC-A10X-01A-11D-A12Z-10	TCGA-BC-A10X-11A-11D-A12Z-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36938443-c826-4abe-aaf6-dd7217b07f51	4285989b-f8d8-4ced-99a1-894ff2b37cf3	g.chr17:73488633T>C	ENST00000314256.7	+	15	2069	c.1675T>C	c.(1675-1677)Tcc>Ccc	p.S559P	KIAA0195_ENST00000375248.5_Missense_Mutation_p.S569P|KIAA0195_ENST00000579208.1_Missense_Mutation_p.S210P	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	559						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTGAGCCTGTCCCAGGACCA	0.587																																					p.S559P		.											.	KIAA0195	91	0			c.T1675C						.						110.0	97.0	102.0					17																	73488633		2203	4300	6503	SO:0001583	missense	9772	exon15			AGCCTGTCCCAGG		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.1675T>C	17.37:g.73488633T>C	ENSP00000313885:p.Ser559Pro	91.0	0.0		84.0	8.0	NM_014738	O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	37	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	T	15.23	2.771177	0.49680	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.89485	-2.52;-2.52	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.93848	0.8032	M	0.71581	2.175	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.83275	0.991;0.996;0.991	D	0.94335	0.7565	10	0.66056	D	0.02	-27.2523	15.7802	0.78255	0.0:0.0:0.0:1.0	.	569;569;559	B4DGC6;C9JL75;Q12767	.;.;K0195_HUMAN	P	559;569	ENSP00000313885:S559P;ENSP00000364397:S569P	ENSP00000313885:S559P	S	+	1	0	KIAA0195	71000228	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.183000	0.72002	2.141000	0.66446	0.459000	0.35465	TCC	.		0.587	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738	
OR10K1	391109	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	158435869	158435869	+	Missense_Mutation	SNP	A	A	G			TCGA-BC-A10X-01A-11D-A12Z-10	TCGA-BC-A10X-11A-11D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36938443-c826-4abe-aaf6-dd7217b07f51	4285989b-f8d8-4ced-99a1-894ff2b37cf3	g.chr1:158435869A>G	ENST00000289451.2	+	1	598	c.518A>G	c.(517-519)cAg>cGg	p.Q173R		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TCCTCCAACCAGCTCCATCAC	0.527																																					p.Q173R		.											.	OR10K1	69	0			c.A518G						.						213.0	210.0	211.0					1																	158435869		2203	4300	6503	SO:0001583	missense	391109	exon1			CCAACCAGCTCCA	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.518A>G	1.37:g.158435869A>G	ENSP00000289451:p.Gln173Arg	538.0	0.0		447.0	18.0	NM_001004473	Q6IFS2	Missense_Mutation	SNP	ENST00000289451.2	37	CCDS30897.1	.	.	.	.	.	.	.	.	.	.	a	0.048	-1.260420	0.01445	.	.	ENSG00000173285	ENST00000289451	T	0.00099	8.73	4.24	3.1	0.35709	GPCR, rhodopsin-like superfamily (1);	0.371038	0.19467	N	0.113545	T	0.00039	0.0001	N	0.25789	0.76	0.09310	N	1	B	0.12013	0.005	B	0.13407	0.009	T	0.36261	-0.9755	10	0.22109	T	0.4	.	4.4059	0.11409	0.7292:0.0:0.0972:0.1736	.	173	Q8NGX5	O10K1_HUMAN	R	173	ENSP00000289451:Q173R	ENSP00000289451:Q173R	Q	+	2	0	OR10K1	156702493	0.000000	0.05858	0.091000	0.20842	0.665000	0.39181	-0.476000	0.06591	0.651000	0.30788	0.455000	0.32223	CAG	.		0.527	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1		
OR2C3	81472	hgsc.bcm.edu;broad.mit.edu	37	1	247694952	247694952	+	Missense_Mutation	SNP	G	G	T	rs201468915		TCGA-BC-A10X-01A-11D-A12Z-10	TCGA-BC-A10X-11A-11D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36938443-c826-4abe-aaf6-dd7217b07f51	4285989b-f8d8-4ced-99a1-894ff2b37cf3	g.chr1:247694952G>T	ENST00000366487.3	-	2	1223	c.862C>A	c.(862-864)Cca>Aca	p.P288T	GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527541.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TAAATAAGTGGGTTCAGCGCA	0.532																																					p.P288T		.											.	OR2C3	70	0			c.C862A						.						98.0	85.0	89.0					1																	247694952		2203	4300	6503	SO:0001583	missense	81472	exon2			TAAGTGGGTTCAG	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.862C>A	1.37:g.247694952G>T	ENSP00000355443:p.Pro288Thr	145.0	0.0		147.0	7.0	NM_198074	Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	ENST00000366487.3	37	CCDS1634.2	.	.	.	.	.	.	.	.	.	.	G	13.89	2.373063	0.42105	.	.	ENSG00000196242	ENST00000366487	T	0.63913	-0.07	3.91	3.91	0.45181	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35585	U	0.003103	T	0.76601	0.4010	M	0.83012	2.62	0.33934	D	0.642374	D	0.67145	0.996	P	0.59643	0.861	D	0.86056	0.1529	10	0.87932	D	0	.	13.8211	0.63320	0.0:0.0:1.0:0.0	.	288	Q8N628	OR2C3_HUMAN	T	288	ENSP00000355443:P288T	ENSP00000355443:P288T	P	-	1	0	OR2C3	245761575	1.000000	0.71417	0.196000	0.23383	0.007000	0.05969	6.081000	0.71309	2.157000	0.67596	0.655000	0.94253	CCA	G|0.999;A|0.000		0.532	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074	
OR2M3	127062	broad.mit.edu;bcgsc.ca	37	1	248366692	248366692	+	Missense_Mutation	SNP	T	T	C			TCGA-BC-A10X-01A-11D-A12Z-10	TCGA-BC-A10X-11A-11D-A12Z-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36938443-c826-4abe-aaf6-dd7217b07f51	4285989b-f8d8-4ced-99a1-894ff2b37cf3	g.chr1:248366692T>C	ENST00000456743.1	+	1	361	c.323T>C	c.(322-324)cTt>cCt	p.L108P		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACATCACTGCTTGGCTCTGAG	0.463																																					p.L108P		.											.	OR2M3	70	0			c.T323C						.						256.0	260.0	259.0					1																	248366692		2203	4300	6503	SO:0001583	missense	127062	exon1			CACTGCTTGGCTC		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.323T>C	1.37:g.248366692T>C	ENSP00000389625:p.Leu108Pro	453.0	2.0		372.0	23.0	NM_001004689	B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	T	8.346	0.829787	0.16749	.	.	ENSG00000228198	ENST00000456743	T	0.00397	7.57	2.44	-0.359	0.12571	GPCR, rhodopsin-like superfamily (1);	1.616520	0.04559	U	0.391288	T	0.00412	0.0013	L	0.60455	1.87	0.09310	N	1	B	0.32507	0.373	B	0.42692	0.395	T	0.36866	-0.9730	10	0.35671	T	0.21	.	2.7702	0.05332	0.1904:0.2307:0.0:0.579	.	108	Q8NG83	OR2M3_HUMAN	P	108	ENSP00000389625:L108P	ENSP00000389625:L108P	L	+	2	0	OR2M3	246433315	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.483000	0.00456	-0.216000	0.10048	-0.722000	0.03604	CTT	.		0.463	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689	
TTBK1	84630	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	43223474	43223474	+	Silent	SNP	G	G	A			TCGA-BC-A10X-01A-11D-A12Z-10	TCGA-BC-A10X-11A-11D-A12Z-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36938443-c826-4abe-aaf6-dd7217b07f51	4285989b-f8d8-4ced-99a1-894ff2b37cf3	g.chr6:43223474G>A	ENST00000259750.4	+	9	824	c.741G>A	c.(739-741)caG>caA	p.Q247Q	TTBK1_ENST00000304139.5_Silent_p.Q196Q	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	247	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TCCAGGAACAGGTAGGGATGA	0.582																																					p.Q247Q		.											.	TTBK1	353	0			c.G741A						.						138.0	110.0	120.0					6																	43223474		2203	4300	6503	SO:0001819	synonymous_variant	84630	exon9			GGAACAGGTAGGG	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.741G>A	6.37:g.43223474G>A		78.0	0.0		53.0	6.0	NM_032538	A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Silent	SNP	ENST00000259750.4	37	CCDS34455.1																																																																																			.		0.582	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3		
WDFY3	23001	broad.mit.edu;bcgsc.ca	37	4	85687056	85687056	+	Missense_Mutation	SNP	A	A	G			TCGA-BC-A10X-01A-11D-A12Z-10	TCGA-BC-A10X-11A-11D-A12Z-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36938443-c826-4abe-aaf6-dd7217b07f51	4285989b-f8d8-4ced-99a1-894ff2b37cf3	g.chr4:85687056A>G	ENST00000295888.4	-	32	5502	c.5095T>C	c.(5095-5097)Tct>Cct	p.S1699P	WDFY3_ENST00000322366.6_Missense_Mutation_p.S1699P	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1699					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ATGAGAATAGACTGATTACTT	0.403																																					p.S1699P		.											.	WDFY3	93	0			c.T5095C						.						143.0	137.0	139.0					4																	85687056		2203	4300	6503	SO:0001583	missense	23001	exon32			GAATAGACTGATT	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.5095T>C	4.37:g.85687056A>G	ENSP00000295888:p.Ser1699Pro	149.0	1.0		124.0	6.0	NM_014991	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	A	14.90	2.672907	0.47781	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.45668	0.89;0.89	5.81	4.64	0.57946	.	0.101154	0.64402	D	0.000001	T	0.36771	0.0979	L	0.49455	1.56	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.21245	-1.0251	10	0.45353	T	0.12	.	11.2722	0.49147	0.9291:0.0:0.0709:0.0	.	1699	Q8IZQ1	WDFY3_HUMAN	P	1699	ENSP00000318466:S1699P;ENSP00000295888:S1699P	ENSP00000295888:S1699P	S	-	1	0	WDFY3	85906080	0.999000	0.42202	1.000000	0.80357	0.936000	0.57629	1.005000	0.29834	2.219000	0.72066	0.533000	0.62120	TCT	.		0.403	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	
