#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TACSTD2	4070	broad.mit.edu	37	1	59042487	59042487	+	Missense_Mutation	SNP	G	G	T			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr1:59042487G>T	ENST00000371225.2	-	1	679	c.342C>A	c.(340-342)ttC>ttA	p.F114L		NM_002353.2	NP_002344.2	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	114	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell motility (GO:2000146)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of stem cell differentiation (GO:2000738)|regulation of epithelial cell proliferation (GO:0050678)|ureteric bud morphogenesis (GO:0060675)|visual perception (GO:0007601)	basal plasma membrane (GO:0009925)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)					all_cancers(7;6.54e-05)					GGCGCGCCTTGAAGCGGCCCT	0.701																																						ENST00000371225.2																			0											c.(340-342)ttC>ttA		tumor-associated calcium signal transducer 2							19.0	15.0	16.0					1																	59042487		2195	4293	6488	SO:0001583	missense	4070				cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity	g.chr1:59042487G>T	X77753	CCDS609.1	1p32	2008-02-05			ENSG00000184292	ENSG00000184292			11530	protein-coding gene	gene with protein product		137290		M1S1		8382772, 11306819	Standard	NM_002353		Approved	TROP2, GA733-1, EGP-1	uc001cyz.4	P09758	OTTHUMG00000010067	ENST00000371225.2:c.342C>A	1.37:g.59042487G>T	ENSP00000360269:p.Phe114Leu		Somatic					p.F114L	NM_002353.2	NP_002344.2	WXS	Illumina GAIIx	Phase_I	P09758	TACD2_HUMAN			1	679	-	all_cancers(7;6.54e-05)		114			Thyroglobulin type-1.		Q15658|Q6FG48|Q7Z7Q4|Q96QD2	Missense_Mutation	SNP	ENST00000371225.2	37	c.342C>A	CCDS609.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876749	0.91664	.	.	ENSG00000184292	ENST00000371225	T	0.70399	-0.48	4.54	3.62	0.41486	Thyroglobulin type-1 (6);	0.000000	0.85682	D	0.000000	D	0.82875	0.5132	M	0.80332	2.49	0.53688	D	0.999979	D	0.76494	0.999	D	0.87578	0.998	D	0.84454	0.0590	10	0.87932	D	0	-25.0466	11.2316	0.48916	0.0861:0.0:0.9139:0.0	.	114	P09758	TACD2_HUMAN	L	114	ENSP00000360269:F114L	ENSP00000360269:F114L	F	-	3	2	TACSTD2	58815075	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.652000	0.46682	1.112000	0.41740	0.561000	0.74099	TTC		0.701	TACSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027818.1	NM_002353		10	4	10	4	---	---	---	---
OR2G2	81470	broad.mit.edu	37	1	247752563	247752563	+	Missense_Mutation	SNP	A	A	T			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr1:247752563A>T	ENST00000320065.1	+	1	902	c.902A>T	c.(901-903)aAa>aTa	p.K301I	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-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)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AAGGAGGTGAAAGGGGCATTA	0.368																																						ENST00000320065.1																			0				endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(901-903)aAa>aTa		olfactory receptor, family 2, subfamily G, member 2							80.0	85.0	83.0					1																	247752563		2203	4300	6503	SO:0001583	missense	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247752563A>T	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.902A>T	1.37:g.247752563A>T	ENSP00000326349:p.Lys301Ile		Somatic				RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	p.K301I	NM_001001915.1	NP_001001915.1	WXS	Illumina GAIIx	Phase_I	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	902	+	all_cancers(71;3.24e-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)		301					Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	c.902A>T	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	A	12.96	2.094008	0.36952	.	.	ENSG00000177489	ENST00000320065	T	0.40225	1.04	4.05	4.05	0.47172	.	0.000000	0.38837	U	0.001543	T	0.47637	0.1456	L	0.48260	1.515	0.09310	N	1	D	0.58268	0.982	P	0.54460	0.753	T	0.39461	-0.9613	10	0.87932	D	0	.	11.0421	0.47838	1.0:0.0:0.0:0.0	.	301	Q8NGZ5	OR2G2_HUMAN	I	301	ENSP00000326349:K301I	ENSP00000326349:K301I	K	+	2	0	OR2G2	245819186	0.001000	0.12720	0.005000	0.12908	0.107000	0.19398	1.529000	0.35996	1.688000	0.51068	0.477000	0.44152	AAA		0.368	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			6	101	6	101	---	---	---	---
CCDC108	255101	broad.mit.edu	37	2	219892592	219892592	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr2:219892592G>A	ENST00000341552.5	-	13	2074	c.1991C>T	c.(1990-1992)cCa>cTa	p.P664L	CCDC108_ENST00000441968.1_Missense_Mutation_p.P664L|CCDC108_ENST00000409865.3_Missense_Mutation_p.P653L|CCDC108_ENST00000453220.1_Missense_Mutation_p.P664L|CCDC108_ENST00000410037.1_Missense_Mutation_p.P599L	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	664						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCAGGCCCTGGGCAGGCACC	0.617																																						ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(1990-1992)cCa>cTa		coiled-coil domain containing 108							48.0	48.0	48.0					2																	219892592		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219892592G>A	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.1991C>T	2.37:g.219892592G>A	ENSP00000340776:p.Pro664Leu		Somatic				CCDC108_ENST00000410037.1_Missense_Mutation_p.P599L|CCDC108_ENST00000453220.1_Missense_Mutation_p.P664L|CCDC108_ENST00000441968.1_Missense_Mutation_p.P664L|CCDC108_ENST00000409865.3_Missense_Mutation_p.P653L	p.P664L	NM_194302.2	NP_919278.2	WXS	Illumina GAIIx	Phase_I	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	13	2074	-		Renal(207;0.0915)	664					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.1991C>T	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	G	15.52	2.859139	0.51376	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000545086;ENST00000409865;ENST00000410037;ENST00000441164	T;T;T;T;T	0.07327	3.51;3.51;3.51;3.2;3.22	5.18	5.18	0.71444	.	0.642064	0.13847	N	0.358653	T	0.09555	0.0235	L	0.60455	1.87	0.80722	D	1	P;P;B	0.34977	0.478;0.478;0.274	B;B;B	0.33960	0.173;0.173;0.112	T	0.08166	-1.0735	10	0.07644	T	0.81	-8.0752	12.6407	0.56709	0.0855:0.0:0.9145:0.0	.	653;598;664	E9PG25;B4DYZ8;Q6ZU64	.;.;CC108_HUMAN	L	664;664;664;140;653;599;598	ENSP00000340776:P664L;ENSP00000413377:P664L;ENSP00000409117:P664L;ENSP00000386945:P653L;ENSP00000386258:P599L	ENSP00000340776:P664L	P	-	2	0	CCDC108	219600836	0.981000	0.34729	0.404000	0.26397	0.868000	0.49771	5.304000	0.65744	2.688000	0.91661	0.655000	0.94253	CCA		0.617	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		16	24	16	24	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100682353	100682353	+	Silent	SNP	C	C	A			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr7:100682353C>A	ENST00000306151.4	+	3	7720	c.7656C>A	c.(7654-7656)atC>atA	p.I2552I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2552	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTACTGAAATCAGTTCATCTG	0.502																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(7654-7656)atC>atA		mucin 17, cell surface associated							252.0	252.0	252.0					7																	100682353		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100682353C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.7656C>A	7.37:g.100682353C>A			Somatic					p.I2552I	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			3	7720	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2552			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.7656C>A	CCDS34711.1																																																																																				0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		74	197	74	197	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110452985	110452985	+	Missense_Mutation	SNP	A	A	C	rs531943427		TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr8:110452985A>C	ENST00000378402.5	+	33	4107	c.4003A>C	c.(4003-4005)Atg>Ctg	p.M1335L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1335	IPT/TIG 7.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGTGACCAGCATGTTTCCACA	0.368										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(4003-4005)Atg>Ctg		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							163.0	154.0	156.0					8																	110452985		1814	4080	5894	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110452985A>C	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.4003A>C	8.37:g.110452985A>C	ENSP00000367655:p.Met1335Leu	HNSCC(38;0.096)	Somatic					p.M1335L	NM_177531.4	NP_803875.2	WXS	Illumina GAIIx	Phase_I	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		33	4107	+			1335			IPT/TIG 7.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.4003A>C	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	A	6.504	0.461280	0.12342	.	.	ENSG00000205038	ENST00000378402	T	0.74002	-0.8	6.17	2.49	0.30216	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.259820	0.38897	N	0.001534	T	0.51975	0.1706	N	0.14661	0.345	0.19575	N	0.999961	B	0.10296	0.003	B	0.08055	0.003	T	0.36648	-0.9739	10	0.38643	T	0.18	.	5.2283	0.15408	0.7216:0.0:0.1457:0.1327	.	1335	Q86WI1	PKHL1_HUMAN	L	1335	ENSP00000367655:M1335L	ENSP00000367655:M1335L	M	+	1	0	PKHD1L1	110522161	0.243000	0.23878	0.452000	0.26994	0.935000	0.57460	0.612000	0.24283	0.197000	0.20387	-0.333000	0.08304	ATG		0.368	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		14	111	14	111	---	---	---	---
SLC17A6	57084	broad.mit.edu	37	11	22382484	22382484	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr11:22382484G>A	ENST00000263160.3	+	5	1052	c.615G>A	c.(613-615)tgG>tgA	p.W205*	CTD-2140G10.4_ENST00000534543.1_RNA	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	205					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GGAGCAAATGGGCCCCACCTC	0.478																																						ENST00000263160.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						c.(613-615)tgG>tgA		solute carrier family 17 (vesicular glutamate transporter), member 6							154.0	114.0	128.0					11																	22382484		2203	4300	6503	SO:0001587	stop_gained	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22382484G>A	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.615G>A	11.37:g.22382484G>A	ENSP00000263160:p.Trp205*		Somatic					p.W205*	NM_020346.2	NP_065079.1	WXS	Illumina GAIIx	Phase_I	Q9P2U8	VGLU2_HUMAN			5	1052	+			205					A6NKS2	Nonsense_Mutation	SNP	ENST00000263160.3	37	c.615G>A	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	G	41	8.734002	0.98933	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7347	0.96198	0.0:0.0:1.0:0.0	.	.	.	.	X	205;93	.	ENSP00000263160:W205X	W	+	3	0	SLC17A6	22339060	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.768000	0.98965	2.746000	0.94184	0.655000	0.94253	TGG		0.478	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		3	33	3	33	---	---	---	---
MYO7A	4647	broad.mit.edu	37	11	76873971	76873971	+	Missense_Mutation	SNP	A	A	T			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr11:76873971A>T	ENST00000409709.3	+	14	1899	c.1627A>T	c.(1627-1629)Aac>Tac	p.N543Y	MYO7A_ENST00000458637.2_Missense_Mutation_p.N543Y|MYO7A_ENST00000409893.1_Missense_Mutation_p.N543Y|MYO7A_ENST00000409619.2_Missense_Mutation_p.N532Y	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	543	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCCCCCCAAGAACAACCATGA	0.572																																						ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1627-1629)Aac>Tac		myosin VIIA							213.0	235.0	228.0					11																	76873971		2099	4215	6314	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76873971A>T	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.1627A>T	11.37:g.76873971A>T	ENSP00000386331:p.Asn543Tyr		Somatic				MYO7A_ENST00000458637.2_Missense_Mutation_p.N543Y|MYO7A_ENST00000409893.1_Missense_Mutation_p.N543Y|MYO7A_ENST00000409619.2_Missense_Mutation_p.N532Y	p.N543Y	NM_000260.3	NP_000251.3	WXS	Illumina GAIIx	Phase_I	Q13402	MYO7A_HUMAN			14	1899	+			543			Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.1627A>T	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	A	18.34	3.602687	0.66445	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000343419	D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27	5.02	5.02	0.67125	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.88691	0.6505	M	0.66506	2.035	0.58432	D	0.999999	B;B;P	0.40794	0.1;0.2;0.729	B;B;P	0.47470	0.088;0.139;0.548	D	0.87125	0.2193	10	0.29301	T	0.29	.	14.8886	0.70590	1.0:0.0:0.0:0.0	.	543;543;543	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	Y	543;543;543;532;542;542;542	ENSP00000386331:N543Y;ENSP00000386689:N543Y;ENSP00000392185:N543Y;ENSP00000386635:N532Y	ENSP00000340325:N542Y	N	+	1	0	MYO7A	76551619	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.608000	0.67654	2.107000	0.64212	0.402000	0.26972	AAC		0.572	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		8	153	8	153	---	---	---	---
OR8G5	219865	broad.mit.edu	37	11	124135393	124135393	+	Missense_Mutation	SNP	G	G	C			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr11:124135393G>C	ENST00000524943.2	+	1	671	c.671G>C	c.(670-672)tGt>tCt	p.C224S	OR8G1_ENST00000341493.2_RNA	NM_001005198.1	NP_001005198.1	Q8NG78	OR8G5_HUMAN	olfactory receptor, family 8, subfamily G, member 5	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0523)		AAGCTCTCCTGTTCTAGTACT	0.368																																					Ovarian(169;523 1969 8640 31295 51256)	ENST00000524943.2																			0											c.(670-672)tGt>tCt		olfactory receptor, family 8, subfamily G, member 5							188.0	185.0	186.0					11																	124135393		1933	4154	6087	SO:0001583	missense	219865							g.chr11:124135393G>C	BK004516	CCDS66256.1	11q24.1	2014-04-17		2004-03-10	ENSG00000255298	ENSG00000255298		"""GPCR / Class A : Olfactory receptors"""	19622	protein-coding gene	gene with protein product				OR8G5P, OR8G6			Standard	NM_001005198		Approved			Q8NG78	OTTHUMG00000186059	ENST00000524943.2:c.671G>C	11.37:g.124135393G>C	ENSP00000477014:p.Cys224Ser		Somatic				OR8G1_ENST00000341493.2_RNA	p.C224S	NM_001005198.1	NP_001005198.1	WXS	Illumina GAIIx	Phase_I				BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0523)	1	671	+		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)						B2RND3|Q6IEU6	Missense_Mutation	SNP	ENST00000524943.2	37	c.671G>C																																																																																					0.368	OR8G5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387283.2	NM_001005198		18	120	18	120	---	---	---	---
TUBGCP3	10426	broad.mit.edu	37	13	113223466	113223466	+	Splice_Site	SNP	G	G	A			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr13:113223466G>A	ENST00000261965.3	-	2	370	c.184C>T	c.(184-186)Ctt>Ttt	p.L62F	TUBGCP3_ENST00000375669.3_Splice_Site_p.L62F	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	62					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					AAATACGTACGCTCTTTCTTG	0.413																																						ENST00000261965.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25						c.(184-186)Ctt>Ttt		tubulin, gamma complex associated protein 3							111.0	101.0	104.0					13																	113223466		2203	4300	6503	SO:0001630	splice_region_variant	10426				G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	g.chr13:113223466G>A	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.184+1C>T	13.37:g.113223466G>A			Somatic				TUBGCP3_ENST00000375669.3_Splice_Site_p.L62F	p.L62F	NM_006322.4	NP_006313.1	WXS	Illumina GAIIx	Phase_I	Q96CW5	GCP3_HUMAN			2	370	-	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		62					O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Splice_Site	SNP	ENST00000261965.3	37	c.184C>T	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256452	0.39896	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.60299	0.26;0.2	4.98	4.14	0.48551	.	0.066112	0.64402	D	0.000014	T	0.47875	0.1469	L	0.52905	1.665	0.50313	D	0.999865	B;P;B;B	0.42941	0.063;0.794;0.306;0.1	B;B;B;B	0.36959	0.011;0.237;0.058;0.011	T	0.43702	-0.9375	9	.	.	.	-16.4444	9.4703	0.38837	0.1632:0.0:0.8368:0.0	.	62;62;62;62	B4DYP7;Q96CW5-3;Q96CW5-2;Q96CW5	.;.;.;GCP3_HUMAN	F	62	ENSP00000261965:L62F;ENSP00000364821:L62F	.	L	-	1	0	TUBGCP3	112271467	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.066000	0.30604	1.120000	0.41904	0.536000	0.68110	CTT		0.413	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322	Missense_Mutation	9	31	9	31	---	---	---	---
CEP152	22995	broad.mit.edu	37	15	49059645	49059645	+	Nonsense_Mutation	SNP	A	A	C	rs182018947	byFrequency	TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr15:49059645A>C	ENST00000380950.2	-	16	2221	c.2034T>G	c.(2032-2034)taT>taG	p.Y678*	CEP152_ENST00000399334.3_Nonsense_Mutation_p.Y678*|CEP152_ENST00000559398.1_5'Flank|CEP152_ENST00000325747.5_Nonsense_Mutation_p.Y585*	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	678					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GGTGCTGCTGATAAGTCCTTT	0.458													a|||	3	0.000599042	0.0015	0.0	5008	,	,		18866	0.0		0.0	False		,,,				2504	0.001					ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(2032-2034)taT>taG		centrosomal protein 152kDa		G	stop/TYR,stop/TYR	7,3969		0,7,1981	133.0	127.0	129.0		2034,2034	0.0	1.0	15		129	2,8364		0,2,4181	yes	stop-gained,stop-gained	CEP152	NM_001194998.1,NM_014985.3	,	0,9,6162	CC,CA,AA		0.0239,0.1761,0.0729	,	678/1711,678/1655	49059645	9,12333	1988	4183	6171	SO:0001587	stop_gained	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49059645A>C	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.2034T>G	15.37:g.49059645A>C	ENSP00000370337:p.Tyr678*		Somatic				CEP152_ENST00000325747.5_Nonsense_Mutation_p.Y585*|CEP152_ENST00000399334.3_Nonsense_Mutation_p.Y678*	p.Y678*	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	WXS	Illumina GAIIx	Phase_I	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	16	2221	-		all_lung(180;0.0428)	678					E7ER66|Q17RV1|Q6NTA0	Nonsense_Mutation	SNP	ENST00000380950.2	37	c.2034T>G	CCDS58361.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	a	39	7.802631	0.98498	0.001761	2.39E-4	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	.	.	.	5.66	0.03	0.14165	.	0.207502	0.42682	D	0.000680	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.1793	12.2854	0.54789	0.3429:0.0:0.657:0.0	.	.	.	.	X	678;585;678	.	ENSP00000321000:Y585X	Y	-	3	2	CEP152	46846937	0.042000	0.20092	0.998000	0.56505	0.904000	0.53231	-1.025000	0.03600	0.091000	0.17302	-1.626000	0.00786	TAT		0.458	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		21	33	21	33	---	---	---	---
ZNF568	374900	broad.mit.edu	37	19	37440962	37440962	+	Missense_Mutation	SNP	G	G	C			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr19:37440962G>C	ENST00000333987.7	+	7	1413	c.907G>C	c.(907-909)Gag>Cag	p.E303Q	ZNF568_ENST00000415168.1_Missense_Mutation_p.E239Q|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	303					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCATACTGGGGAGAAACCTTA	0.378																																						ENST00000415168.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29						c.(715-717)Gag>Cag		zinc finger protein 568							36.0	40.0	39.0					19																	37440962		2169	4283	6452	SO:0001583	missense	374900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37440962G>C	BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.907G>C	19.37:g.37440962G>C	ENSP00000334685:p.Glu303Gln		Somatic				ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.E303Q|ZNF568_ENST00000427117.1_Intron	p.E239Q	NM_001204837.1	NP_001191766.1	WXS	Illumina GAIIx	Phase_I	Q3ZCX4	ZN568_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1091	+	Esophageal squamous(110;0.183)		303					B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	ENST00000333987.7	37	c.715G>C	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352791	0.61293	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	T;T	0.25912	1.77;1.77	3.95	2.87	0.33458	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37437	N	0.002095	T	0.35158	0.0922	L	0.31207	0.915	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.10337	-1.0634	10	0.72032	D	0.01	.	10.0237	0.42059	0.1042:0.0:0.8958:0.0	.	303	Q3ZCX4	ZN568_HUMAN	Q	303;239	ENSP00000334685:E303Q;ENSP00000394514:E239Q	ENSP00000334685:E303Q	E	+	1	0	ZNF568	42132802	1.000000	0.71417	0.079000	0.20413	0.994000	0.84299	3.549000	0.53681	0.956000	0.37904	0.655000	0.94253	GAG		0.378	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539		4	40	4	40	---	---	---	---
