#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
DNAJB4	11080	broad.mit.edu	37	1	78478968	78478968	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr1:78478968G>T	ENST00000370763.5	+	2	702	c.445G>T	c.(445-447)Gtg>Ttg	p.V149L	GIPC2_ENST00000476882.1_Intron|DNAJB4_ENST00000487931.1_3'UTR	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	149					protein folding (GO:0006457)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						CAGGAATTCTGTGGGGCCATC	0.413																																						ENST00000370763.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(445-447)Gtg>Ttg		DnaJ (Hsp40) homolog, subfamily B, member 4							123.0	123.0	123.0					1																	78478968		2203	4300	6503	SO:0001583	missense	11080				protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding	g.chr1:78478968G>T	U40992	CCDS684.1	1p31.1	2011-09-02			ENSG00000162616	ENSG00000162616		"""Heat shock proteins / DNAJ (HSP40)"""	14886	protein-coding gene	gene with protein product		611327				9546042, 11147971	Standard	NM_007034		Approved	HLJ1	uc001dij.3	Q9UDY4	OTTHUMG00000040905	ENST00000370763.5:c.445G>T	1.37:g.78478968G>T	ENSP00000359799:p.Val149Leu		Somatic				DNAJB4_ENST00000487931.1_3'UTR|GIPC2_ENST00000476882.1_Intron	p.V149L	NM_007034.3	NP_008965.2	WXS	Illumina GAIIx	Phase_I	Q9UDY4	DNJB4_HUMAN			2	702	+			149					B2R824|Q13431	Missense_Mutation	SNP	ENST00000370763.5	37	c.445G>T	CCDS684.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264017	0.39995	.	.	ENSG00000162616	ENST00000426517;ENST00000370763	T;T	0.62941	-0.01;0.39	5.46	5.46	0.80206	.	0.622463	0.17026	N	0.189934	T	0.37999	0.1024	L	0.29908	0.895	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.21245	-1.0251	10	0.19590	T	0.45	.	19.3687	0.94475	0.0:0.0:1.0:0.0	.	149	Q9UDY4	DNJB4_HUMAN	L	149	ENSP00000399494:V149L;ENSP00000359799:V149L	ENSP00000359799:V149L	V	+	1	0	DNAJB4	78251556	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.331000	0.79192	2.546000	0.85860	0.644000	0.83932	GTG		0.413	DNAJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098248.3			20	68	20	68	---	---	---	---
HSD3B1	3283	broad.mit.edu	37	1	120056908	120056908	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr1:120056908C>A	ENST00000369413.3	+	4	907	c.762C>A	c.(760-762)taC>taA	p.Y254*	HSD3B1_ENST00000528909.1_Nonsense_Mutation_p.Y254*|HSD3B1_ENST00000235547.6_Nonsense_Mutation_p.Y256*			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	254					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	GACAGTTCTACTATATCTCAG	0.522																																						ENST00000235547.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32						c.(766-768)taC>taA		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	NADH(DB00157)|Trilostane(DB01108)						69.0	73.0	72.0					1																	120056908		2203	4300	6503	SO:0001587	stop_gained	3283				androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:120056908C>A	S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5217	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 1"""	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.762C>A	1.37:g.120056908C>A	ENSP00000358421:p.Tyr254*		Somatic				HSD3B1_ENST00000369413.3_Nonsense_Mutation_p.Y254*|HSD3B1_ENST00000528909.1_Nonsense_Mutation_p.Y254*	p.Y256*	NM_000862.2	NP_000853.1	WXS	Illumina GAIIx	Phase_I	P14060	3BHS1_HUMAN		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	4	907	+	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)	254					A8K691|Q14545|Q8IV65	Nonsense_Mutation	SNP	ENST00000369413.3	37	c.768C>A	CCDS903.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.716840	0.48622	.	.	ENSG00000203857	ENST00000369413;ENST00000235547;ENST00000528909	.	.	.	3.26	-2.17	0.07059	.	0.059560	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.1299	8.547	0.33429	0.0:0.3017:0.0:0.6983	.	.	.	.	X	254;256;254	.	ENSP00000235547:Y256X	Y	+	3	2	HSD3B1	119858431	0.987000	0.35691	0.990000	0.47175	0.312000	0.27988	0.266000	0.18534	-0.371000	0.08004	-0.657000	0.03884	TAC		0.522	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	NM_000862		18	62	18	62	---	---	---	---
TARS2	80222	broad.mit.edu	37	1	150468986	150468986	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr1:150468986G>T	ENST00000369064.3	+	8	837	c.803G>T	c.(802-804)gGg>gTg	p.G268V	TARS2_ENST00000463555.1_Intron|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000606933.1_Intron|TARS2_ENST00000369054.2_Intron	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	268					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	AGGTCTTCAGGGGCCCCAGAG	0.517																																						ENST00000369064.3																			0				cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35						c.(802-804)gGg>gTg		threonyl-tRNA synthetase 2, mitochondrial (putative)	L-Threonine(DB00156)						115.0	110.0	112.0					1																	150468986		2203	4300	6503	SO:0001583	missense	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150468986G>T	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.803G>T	1.37:g.150468986G>T	ENSP00000358060:p.Gly268Val		Somatic				TARS2_ENST00000369054.2_Intron|TARS2_ENST00000606933.1_Intron|TARS2_ENST00000463555.1_Intron|TARS2_ENST00000438568.2_3'UTR	p.G268V	NM_025150.3	NP_079426.2	WXS	Illumina GAIIx	Phase_I	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		8	837	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		268					Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	ENST00000369064.3	37	c.803G>T	CCDS952.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723472	0.30593	.	.	ENSG00000143374	ENST00000369064	.	.	.	5.02	0.831	0.18860	Threonyl/alanyl tRNA synthetase, SAD (2);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.831895	0.11159	N	0.593226	T	0.04227	0.0117	N	0.05487	-0.04	0.09310	N	0.999992	B	0.34103	0.437	B	0.33846	0.171	T	0.32955	-0.9887	9	0.42905	T	0.14	-3.134	1.7989	0.03067	0.221:0.2524:0.3972:0.1295	.	268	Q9BW92	SYTM_HUMAN	V	268	.	ENSP00000358060:G268V	G	+	2	0	TARS2	148735610	0.668000	0.27493	0.000000	0.03702	0.947000	0.59692	1.230000	0.32612	-0.003000	0.14444	0.655000	0.94253	GGG		0.517	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		7	102	7	102	---	---	---	---
CLK2	1196	broad.mit.edu	37	1	155239353	155239353	+	Missense_Mutation	SNP	G	G	A	rs139555196		TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr1:155239353G>A	ENST00000368361.4	-	3	640	c.325C>T	c.(325-327)Cgc>Tgc	p.R109C	CLK2_ENST00000355560.4_Missense_Mutation_p.R108C|CLK2_ENST00000497188.1_5'Flank|CLK2_ENST00000536801.1_Missense_Mutation_p.R109C|CLK2_ENST00000361168.5_Missense_Mutation_p.R109C			P49760	CLK2_HUMAN	CDC-like kinase 2	109					negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R109S(1)		endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGCTGGCTGCGGTAACTGCTG	0.592								Other conserved DNA damage response genes																														ENST00000368361.4																			1	Substitution - Missense(1)	p.R109S(1)	lung(1)	endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22						c.(325-327)Cgc>Tgc	Other conserved DNA damage response genes	CDC-like kinase 2		G	CYS/ARG	1,4405		0,1,2202	111.0	103.0	106.0		325	4.6	1.0	1	dbSNP_134	106	0,8600		0,0,4300	no	missense	CLK2	NM_003993.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	109/499	155239353	1,13005	2203	4300	6503	SO:0001583	missense	1196					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:155239353G>A	L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.325C>T	1.37:g.155239353G>A	ENSP00000357345:p.Arg109Cys		Somatic				CLK2_ENST00000361168.5_Missense_Mutation_p.R109C|CLK2_ENST00000536801.1_Missense_Mutation_p.R109C|CLK2_ENST00000355560.4_Missense_Mutation_p.R108C	p.R109C			WXS	Illumina GAIIx	Phase_I	P49760	CLK2_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		3	640	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		109					B1AVS9|B5MBX6|Q96CQ0	Missense_Mutation	SNP	ENST00000368361.4	37	c.325C>T		.	.	.	.	.	.	.	.	.	.	.	14.81	2.645084	0.47258	2.27E-4	0.0	ENSG00000176444	ENST00000361168;ENST00000368361;ENST00000355560;ENST00000536801	T;T;T;T	0.56776	0.47;0.46;0.44;0.46	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.50548	0.1622	M	0.70595	2.14	0.58432	D	0.999997	D;D	0.71674	0.997;0.998	B;P	0.50754	0.446;0.649	T	0.59016	-0.7533	10	0.72032	D	0.01	.	11.5254	0.50576	0.0:0.0:0.8209:0.1791	.	109;109	P49760;P49760-3	CLK2_HUMAN;.	C	109;109;108;109	ENSP00000354856:R109C;ENSP00000357345:R109C;ENSP00000347759:R108C;ENSP00000441023:R109C	ENSP00000347759:R108C	R	-	1	0	CLK2	153505977	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	4.893000	0.63199	2.424000	0.82194	0.650000	0.86243	CGC		0.592	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993		4	103	4	103	---	---	---	---
TPR	7175	broad.mit.edu	37	1	186326600	186326600	+	Silent	SNP	T	T	C			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr1:186326600T>C	ENST00000367478.4	-	14	1949	c.1653A>G	c.(1651-1653)caA>caG	p.Q551Q	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	551					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTAAGAGACGTTGATTTTGTT	0.388			T	NTRK1	papillary thyroid																																	ENST00000367478.4				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(1651-1653)caA>caG		translocated promoter region, nuclear basket protein							157.0	143.0	147.0					1																	186326600		1845	4088	5933	SO:0001819	synonymous_variant	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186326600T>C	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.1653A>G	1.37:g.186326600T>C			Somatic				TPR_ENST00000474852.1_5'UTR	p.Q551Q	NM_003292.2	NP_003283.2	WXS	Illumina GAIIx	Phase_I	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	14	1949	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)						Q15655|Q5SWY0|Q99968	Silent	SNP	ENST00000367478.4	37	c.1653A>G	CCDS41446.1																																																																																				0.388	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		11	46	11	46	---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232649718	232649718	+	Silent	SNP	G	G	A			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr1:232649718G>A	ENST00000366630.1	-	2	1726	c.1368C>T	c.(1366-1368)tcC>tcT	p.S456S	SIPA1L2_ENST00000262861.4_Silent_p.S456S			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	456					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.S456S(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTTCCAAGACGGAGACACCTG	0.493																																						ENST00000366630.1																			1	Substitution - coding silent(1)	p.S456S(1)	lung(1)	NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(1366-1368)tcC>tcT		signal-induced proliferation-associated 1 like 2							148.0	144.0	146.0					1																	232649718		1971	4164	6135	SO:0001819	synonymous_variant	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232649718G>A	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1368C>T	1.37:g.232649718G>A			Somatic				SIPA1L2_ENST00000262861.4_Silent_p.S456S	p.S456S			WXS	Illumina GAIIx	Phase_I	Q9P2F8	SI1L2_HUMAN			2	1726	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	456					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	ENST00000366630.1	37	c.1368C>T	CCDS41474.1																																																																																				0.493	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		4	137	4	137	---	---	---	---
OTOF	9381	broad.mit.edu	37	2	26689990	26689990	+	Missense_Mutation	SNP	C	C	T	rs201493014		TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr2:26689990C>T	ENST00000272371.2	-	35	4465	c.4339G>A	c.(4339-4341)Gag>Aag	p.E1447K	OTOF_ENST00000403946.3_Missense_Mutation_p.E1447K|OTOF_ENST00000338581.6_Missense_Mutation_p.E680K|OTOF_ENST00000402415.3_Missense_Mutation_p.E757K|OTOF_ENST00000339598.3_Missense_Mutation_p.E680K	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1447					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAATGCGCTCCTCCTCGGTG	0.627													C|||	1	0.000199681	0.0	0.0014	5008	,	,		14388	0.0		0.0	False		,,,				2504	0.0				GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(4339-4341)Gag>Aag		otoferlin							58.0	53.0	54.0					2																	26689990		2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26689990C>T	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.4339G>A	2.37:g.26689990C>T	ENSP00000272371:p.Glu1447Lys		Somatic				OTOF_ENST00000339598.3_Missense_Mutation_p.E680K|OTOF_ENST00000402415.3_Missense_Mutation_p.E757K|OTOF_ENST00000403946.3_Missense_Mutation_p.E1447K|OTOF_ENST00000338581.6_Missense_Mutation_p.E680K	p.E1447K	NM_194248.2	NP_919224.1	WXS	Illumina GAIIx	Phase_I	Q9HC10	OTOF_HUMAN			35	4465	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1447					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.4339G>A	CCDS1725.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	19.12	3.766700	0.69878	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.79940	-1.06;-1.06;-1.06;-1.32;-1.32	4.42	4.42	0.53409	.	0.047076	0.85682	D	0.000000	T	0.74168	0.3681	L	0.47716	1.5	0.58432	D	0.999998	B;B;B;B	0.19073	0.017;0.014;0.029;0.033	B;B;B;B	0.26614	0.012;0.02;0.027;0.071	T	0.68368	-0.5427	10	0.06757	T	0.87	-33.9162	16.9753	0.86311	0.0:1.0:0.0:0.0	.	1447;680;757;680	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	K	680;680;757;1447;1447	ENSP00000345137:E680K;ENSP00000344521:E680K;ENSP00000383906:E757K;ENSP00000272371:E1447K;ENSP00000385255:E1447K	ENSP00000272371:E1447K	E	-	1	0	OTOF	26543494	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.749000	0.85096	2.167000	0.68274	0.561000	0.74099	GAG		0.627	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			9	29	9	29	---	---	---	---
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C	rs369310197		TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					protein targeting to Golgi (GO:0000042)			p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373																																						ENST00000409886.3																			6	Substitution - Missense(6)	p.N756D(6)	endometrium(6)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2266-2268)Aac>Gac		RANBP2-like and GRIP domain containing 3							164.0	133.0	142.0					2																	107049681		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049681T>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp		Somatic				RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	p.N756D	NM_001144013.1	NP_001137485.1	WXS	Illumina GAIIx	Phase_I	A6NKT7	RGPD3_HUMAN			16	2353	-			756					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2266A>G	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		4	296	4	296	---	---	---	---
TLK1	9874	broad.mit.edu	37	2	171902685	171902685	+	Splice_Site	SNP	G	G	C			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr2:171902685G>C	ENST00000431350.2	-	11	1572	c.1168C>G	c.(1168-1170)Ctg>Gtg	p.L390V	TLK1_ENST00000434911.2_Splice_Site_p.L294V|TLK1_ENST00000521943.1_Splice_Site_p.L342V|TLK1_ENST00000442919.2_Splice_Site_p.L342V|TLK1_ENST00000360843.3_Splice_Site_p.L411V			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	390					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						GAGGCTTACAGTTGTGGTAAA	0.333																																						ENST00000442919.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(1024-1026)Ctg>Gtg		tousled-like kinase 1							159.0	152.0	154.0					2																	171902685		2203	4300	6503	SO:0001630	splice_region_variant	9874				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:171902685G>C	AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.1169+1C>G	2.37:g.171902685G>C			Somatic				TLK1_ENST00000360843.3_Splice_Site_p.L411V|TLK1_ENST00000431350.2_Splice_Site_p.L390V|TLK1_ENST00000434911.2_Splice_Site_p.L294V|TLK1_ENST00000521943.1_Splice_Site_p.L342V	p.L342V	NM_012290.4	NP_036422.3	WXS	Illumina GAIIx	Phase_I	Q9UKI8	TLK1_HUMAN			11	1639	-			390					B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Splice_Site	SNP	ENST00000431350.2	37	c.1024C>G	CCDS2241.1	.	.	.	.	.	.	.	.	.	.	G	8.327	0.825545	0.16749	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943;ENST00000434911	T;T;T;T;T	0.62639	0.03;0.01;0.01;0.03;0.02	5.13	3.29	0.37713	.	0.000000	0.64402	D	0.000001	T	0.60907	0.2305	L	0.41236	1.265	0.50313	D	0.999861	B;D;B	0.62365	0.218;0.991;0.167	B;P;B	0.56751	0.05;0.805;0.024	T	0.55405	-0.8146	10	0.21014	T	0.42	-9.3847	8.9395	0.35720	0.2942:0.0:0.7058:0.0	.	294;411;390	B4DX87;Q9UKI8-2;Q9UKI8	.;.;TLK1_HUMAN	V	342;390;411;342;294	ENSP00000402165:L342V;ENSP00000411099:L390V;ENSP00000354089:L411V;ENSP00000428113:L342V;ENSP00000409222:L294V	ENSP00000354089:L411V	L	-	1	2	TLK1	171610931	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.027000	0.41078	1.295000	0.44724	-0.229000	0.12294	CTG		0.333	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290	Missense_Mutation	4	78	4	78	---	---	---	---
COL4A4	1286	broad.mit.edu	37	2	227924243	227924243	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr2:227924243C>T	ENST00000396625.3	-	28	2468	c.2261G>A	c.(2260-2262)gGt>gAt	p.G754D	COL4A4_ENST00000329662.7_Missense_Mutation_p.G754D	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	754	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCCTTTCTGACCATTCACTCC	0.587																																						ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(2260-2262)gGt>gAt		collagen, type IV, alpha 4							73.0	78.0	77.0					2																	227924243		1829	4076	5905	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227924243C>T		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.2261G>A	2.37:g.227924243C>T	ENSP00000379866:p.Gly754Asp		Somatic				COL4A4_ENST00000329662.7_Missense_Mutation_p.G754D	p.G754D	NM_000092.4	NP_000083.3	WXS	Illumina GAIIx	Phase_I	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	28	2468	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	754			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.2261G>A	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.877527	0.91664	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.99176	-5.52;-5.52	5.99	5.99	0.97316	.	.	.	.	.	D	0.99619	0.9861	H	0.98111	4.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97845	1.0271	9	0.87932	D	0	.	18.2507	0.90002	0.0:1.0:0.0:0.0	.	754	P53420	CO4A4_HUMAN	D	754	ENSP00000379866:G754D;ENSP00000328553:G754D	ENSP00000328553:G754D	G	-	2	0	COL4A4	227632487	1.000000	0.71417	0.981000	0.43875	0.969000	0.65631	5.446000	0.66600	2.840000	0.97914	0.655000	0.94253	GGT		0.587	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		19	39	19	39	---	---	---	---
CYP8B1	1582	broad.mit.edu	37	3	42916185	42916185	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr3:42916185A>T	ENST00000316161.4	-	1	1448	c.1124T>A	c.(1123-1125)cTg>cAg	p.L375Q	RP11-141M3.5_ENST00000471537.1_RNA|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.L375Q	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	375					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		ATGGCGGAACAGATACTCCTG	0.582																																						ENST00000316161.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23						c.(1123-1125)cTg>cAg		cytochrome P450, family 8, subfamily B, polypeptide 1							91.0	89.0	89.0					3																	42916185		2203	4300	6503	SO:0001583	missense	1582				bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity	g.chr3:42916185A>T	AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"""Cytochrome P450s"""	2653	protein-coding gene	gene with protein product		602172	"""cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"""			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.1124T>A	3.37:g.42916185A>T	ENSP00000318867:p.Leu375Gln		Somatic				RP11-141M3.5_ENST00000471537.1_RNA|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.L375Q	p.L375Q	NM_004391.2	NP_004382.2	WXS	Illumina GAIIx	Phase_I	Q9UNU6	CP8B1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)	1	1448	-			375					B2RCY3|O75958|Q6NWT2|Q6NWT3	Missense_Mutation	SNP	ENST00000316161.4	37	c.1124T>A	CCDS2707.1	.	.	.	.	.	.	.	.	.	.	A	0.008	-1.889784	0.00527	.	.	ENSG00000180432	ENST00000437102;ENST00000316161	T;T	0.01347	4.99;4.99	4.5	-3.15	0.05233	.	0.868719	0.10039	N	0.723678	T	0.00784	0.0026	N	0.16708	0.43	0.09310	N	1	B;B	0.19583	0.037;0.011	B;B	0.22152	0.038;0.023	T	0.48614	-0.9020	10	0.11182	T	0.66	-3.4574	0.9942	0.01463	0.3681:0.2559:0.2391:0.1369	.	375;375	C9JFR9;Q9UNU6	.;CP8B1_HUMAN	Q	375	ENSP00000404499:L375Q;ENSP00000318867:L375Q	ENSP00000318867:L375Q	L	-	2	0	CYP8B1	42891189	0.004000	0.15560	0.001000	0.08648	0.034000	0.12701	0.004000	0.13106	-0.406000	0.07588	0.459000	0.35465	CTG		0.582	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256653.1	NM_004391		17	45	17	45	---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155205833	155205833	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr3:155205833T>C	ENST00000340059.7	-	20	2566	c.2567A>G	c.(2566-2568)aAt>aGt	p.N856S	PLCH1_ENST00000460012.1_Missense_Mutation_p.N838S|PLCH1_ENST00000414191.1_Missense_Mutation_p.N838S|PLCH1-AS2_ENST00000472913.1_RNA|PLCH1_ENST00000447496.2_Missense_Mutation_p.N856S|PLCH1_ENST00000334686.6_Missense_Mutation_p.N838S|PLCH1_ENST00000494598.1_Missense_Mutation_p.N856S	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	856					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATAGATTTCATTGATGGTTAT	0.338																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(2512-2514)aAt>aGt		phospholipase C, eta 1							129.0	129.0	129.0					3																	155205833		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155205833T>C	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2567A>G	3.37:g.155205833T>C	ENSP00000345988:p.Asn856Ser		Somatic				PLCH1_ENST00000414191.1_Missense_Mutation_p.N838S|PLCH1_ENST00000334686.6_Missense_Mutation_p.N838S|PLCH1_ENST00000340059.7_Missense_Mutation_p.N856S|PLCH1_ENST00000494598.1_Missense_Mutation_p.N856S|PLCH1_ENST00000447496.2_Missense_Mutation_p.N856S	p.N838S			WXS	Illumina GAIIx	Phase_I	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		21	2870	-			856					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.2513A>G	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	T	19.69	3.873844	0.72180	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.29397	2.08;2.0;1.57;2.0;2.0;2.0	5.18	5.18	0.71444	C2 calcium/lipid-binding domain, CaLB (1);	0.642281	0.17446	N	0.173943	T	0.35770	0.0943	L	0.47190	1.495	0.54753	D	0.99998	P;B;B	0.40302	0.712;0.402;0.078	P;B;B	0.46718	0.525;0.171;0.053	T	0.03922	-1.0992	10	0.15499	T	0.54	.	15.0382	0.71767	0.0:0.0:0.0:1.0	.	838;856;856	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	S	856;838;856;856;838;838	ENSP00000419100:N856S;ENSP00000417502:N838S;ENSP00000402759:N856S;ENSP00000345988:N856S;ENSP00000335469:N838S;ENSP00000412977:N838S	ENSP00000335469:N838S	N	-	2	0	PLCH1	156688527	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.498000	0.81546	1.947000	0.56498	0.533000	0.62120	AAT		0.338	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		14	25	14	25	---	---	---	---
G3BP2	9908	broad.mit.edu	37	4	76579226	76579226	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr4:76579226G>A	ENST00000359707.4	-	8	1551	c.766C>T	c.(766-768)Cct>Tct	p.P256S	G3BP2_ENST00000395719.3_Missense_Mutation_p.P256S|G3BP2_ENST00000357854.3_Intron|G3BP2_ENST00000502654.1_5'Flank	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	256					cytoplasmic sequestering of NF-kappaB (GO:0007253)|mRNA transport (GO:0051028)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|receptor signaling complex scaffold activity (GO:0030159)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GTACCACTAGGAGGCAGGTTT	0.443																																						ENST00000359707.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(766-768)Cct>Tct		GTPase activating protein (SH3 domain) binding protein 2							86.0	84.0	85.0					4																	76579226		2203	4300	6503	SO:0001583	missense	9908				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding	g.chr4:76579226G>A	AB014560	CCDS3571.1, CCDS3572.1	4q21.1	2013-02-12	2006-11-01		ENSG00000138757	ENSG00000138757		"""RNA binding motif (RRM) containing"""	30291	protein-coding gene	gene with protein product	"""Ras-GTPase activating protein SH3 domain-binding protein 2"""					9734811, 9575347	Standard	NM_203504		Approved	KIAA0660	uc003his.3	Q9UN86	OTTHUMG00000130097	ENST00000359707.4:c.766C>T	4.37:g.76579226G>A	ENSP00000352738:p.Pro256Ser		Somatic				G3BP2_ENST00000395719.3_Missense_Mutation_p.P256S|G3BP2_ENST00000357854.3_Intron	p.P256S	NM_203505.2	NP_987101.1	WXS	Illumina GAIIx	Phase_I	Q9UN86	G3BP2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		8	1551	-			256					A8K6X1|O60606|O75149|Q9UPA1	Missense_Mutation	SNP	ENST00000359707.4	37	c.766C>T	CCDS3571.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113928	0.77210	.	.	ENSG00000138757	ENST00000395719;ENST00000359707	T;T	0.78816	-1.21;-1.21	5.95	5.95	0.96441	.	0.047834	0.85682	D	0.000000	D	0.82600	0.5072	L	0.60455	1.87	0.80722	D	1	P	0.47910	0.902	P	0.53185	0.72	T	0.76572	-0.2910	10	0.17369	T	0.5	.	20.4024	0.99000	0.0:0.0:1.0:0.0	.	256	Q9UN86	G3BP2_HUMAN	S	256	ENSP00000379069:P256S;ENSP00000352738:P256S	ENSP00000352738:P256S	P	-	1	0	G3BP2	76798250	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.827000	0.97445	0.650000	0.86243	CCT		0.443	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252399.2	NM_012297		3	12	3	12	---	---	---	---
SPARCL1	8404	broad.mit.edu	37	4	88401672	88401672	+	Splice_Site	SNP	C	C	T			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr4:88401672C>T	ENST00000282470.6	-	9	2139	c.1669G>A	c.(1669-1671)Gtc>Atc	p.V557I	SPARCL1_ENST00000418378.1_Splice_Site_p.V557I|SPARCL1_ENST00000503414.1_Splice_Site_p.V432I	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	557					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		ATTTTCTTGACCTGGGATTAG	0.398																																						ENST00000418378.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21						c.(1669-1671)Gtc>Atc		SPARC-like 1 (hevin)							84.0	85.0	85.0					4																	88401672		2203	4300	6503	SO:0001630	splice_region_variant	8404				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	g.chr4:88401672C>T	X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"""EF-hand domain containing"""	11220	protein-coding gene	gene with protein product		606041	"""SPARC-like 1 (mast9, hevin)"""			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.1669-1G>A	4.37:g.88401672C>T			Somatic				SPARCL1_ENST00000282470.6_Splice_Site_p.V557I|SPARCL1_ENST00000503414.1_Splice_Site_p.V432I	p.V557I	NM_001128310.1	NP_001121782.1	WXS	Illumina GAIIx	Phase_I	Q14515	SPRL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00118)	10	2240	-			557					B4E2Z0|E7ESU2|Q14800	Splice_Site	SNP	ENST00000282470.6	37	c.1669G>A	CCDS3622.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789058	0.90367	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	T;T;T	0.31769	2.04;2.04;1.48	4.92	4.92	0.64577	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.62563	0.2438	M	0.87038	2.855	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.69669	-0.5083	10	0.87932	D	0	-12.3112	17.9858	0.89155	0.0:1.0:0.0:0.0	.	557	Q14515	SPRL1_HUMAN	I	557;557;432;432	ENSP00000282470:V557I;ENSP00000414856:V557I;ENSP00000422903:V432I	ENSP00000282470:V557I	V	-	1	0	SPARCL1	88620696	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.248000	0.78268	2.663000	0.90544	0.585000	0.79938	GTC		0.398	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2		Missense_Mutation	20	49	20	49	---	---	---	---
BYSL	705	broad.mit.edu	37	6	41900430	41900430	+	Missense_Mutation	SNP	A	A	T	rs144306191		TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr6:41900430A>T	ENST00000230340.4	+	7	1675	c.1300A>T	c.(1300-1302)Atc>Ttc	p.I434F		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	434					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|female pregnancy (GO:0007565)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|trophectodermal cell differentiation (GO:0001829)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGATGTTCCCATCACCGTGGA	0.557																																						ENST00000230340.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8						c.(1300-1302)Atc>Ttc		bystin-like							51.0	50.0	50.0					6																	41900430		2203	4300	6503	SO:0001583	missense	705				cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus		g.chr6:41900430A>T	L36720	CCDS34450.1	6p21.1	2008-08-29			ENSG00000112578	ENSG00000112578			1157	protein-coding gene	gene with protein product		603871				9925933, 17381424	Standard	NM_004053		Approved		uc003orl.3	Q13895	OTTHUMG00000014687	ENST00000230340.4:c.1300A>T	6.37:g.41900430A>T	ENSP00000230340:p.Ile434Phe		Somatic					p.I434F	NM_004053.3	NP_004044.3	WXS	Illumina GAIIx	Phase_I	Q13895	BYST_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		7	1675	+	Colorectal(47;0.121)		434					Q6P5W4|Q86W44|Q96IP8	Missense_Mutation	SNP	ENST00000230340.4	37	c.1300A>T	CCDS34450.1	.	.	.	.	.	.	.	.	.	.	a	14.43	2.533796	0.45073	.	.	ENSG00000112578	ENST00000230340	T	0.32515	1.45	5.13	-4.96	0.03038	.	1.271460	0.05227	N	0.509666	T	0.05868	0.0153	N	0.22421	0.69	0.09310	N	1	B	0.13145	0.007	B	0.19148	0.024	T	0.28744	-1.0034	10	0.20519	T	0.43	-21.4271	8.82	0.35020	0.5654:0.1014:0.3333:0.0	.	434	Q13895	BYST_HUMAN	F	434	ENSP00000230340:I434F	ENSP00000230340:I434F	I	+	1	0	BYSL	42008408	0.000000	0.05858	0.000000	0.03702	0.095000	0.18619	0.101000	0.15251	-1.377000	0.02123	0.449000	0.29647	ATC		0.557	BYSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040535.2			8	15	8	15	---	---	---	---
VGLL2	245806	broad.mit.edu	37	6	117589488	117589488	+	Silent	SNP	A	A	C			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr6:117589488A>C	ENST00000326274.5	+	2	415	c.225A>C	c.(223-225)ccA>ccC	p.P75P	VGLL2_ENST00000352536.3_Silent_p.P75P	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial-like family member 2	75					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		AAGAGCGCCCACCAGAGGCAG	0.577																																						ENST00000326274.5																			0				central_nervous_system(1)|kidney(1)|lung(3)	5						c.(223-225)ccA>ccC		vestigial like 2 (Drosophila)							103.0	118.0	113.0					6																	117589488		2203	4300	6503	SO:0001819	synonymous_variant	245806				transcription, DNA-dependent	nucleus		g.chr6:117589488A>C	AY056583	CCDS5114.1, CCDS5115.1	6q22.31	2014-03-03	2014-03-03		ENSG00000170162	ENSG00000170162			20232	protein-coding gene	gene with protein product		609979	"""vestigial like 2 (Drosophila)"""			12376544	Standard	NM_153453		Approved		uc003pxn.3	Q8N8G2	OTTHUMG00000015451	ENST00000326274.5:c.225A>C	6.37:g.117589488A>C			Somatic				VGLL2_ENST00000352536.3_Silent_p.P75P	p.P75P	NM_182645.3	NP_872586.1	WXS	Illumina GAIIx	Phase_I	Q8N8G2	VGLL2_HUMAN		GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)	2	415	+			75					Q8WWX1	Silent	SNP	ENST00000326274.5	37	c.225A>C	CCDS5115.1																																																																																				0.577	VGLL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041975.2	NM_153453		13	102	13	102	---	---	---	---
TAAR2	9287	broad.mit.edu	37	6	132939259	132939259	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr6:132939259C>T	ENST00000367931.1	-	2	85	c.86G>A	c.(85-87)gGa>gAa	p.G29E	TAAR2_ENST00000537809.1_5'UTR|TAAR2_ENST00000275191.2_5'UTR			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	29					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		AGATCTATTTCCATATTCAGA	0.308																																						ENST00000367931.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23						c.(85-87)gGa>gAa		trace amine associated receptor 2							57.0	60.0	59.0					6																	132939259		2201	4297	6498	SO:0001583	missense	9287					plasma membrane	G-protein coupled receptor activity	g.chr6:132939259C>T	AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"""GPCR / Class A : Trace amine associated receptors"""	4514	protein-coding gene	gene with protein product		604849	"""G protein-coupled receptor 58"""	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.86G>A	6.37:g.132939259C>T	ENSP00000356908:p.Gly29Glu		Somatic				TAAR2_ENST00000275191.2_5'UTR|TAAR2_ENST00000537809.1_5'UTR	p.G29E			WXS	Illumina GAIIx	Phase_I	Q9P1P5	TAAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)	2	85	-	Breast(56;0.135)		29					Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Missense_Mutation	SNP	ENST00000367931.1	37	c.86G>A	CCDS34541.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784306	0.49997	.	.	ENSG00000146378	ENST00000367931	T	0.36520	1.25	5.5	5.5	0.81552	.	0.080740	0.49305	D	0.000141	T	0.35941	0.0949	N	0.20986	0.625	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.17167	-1.0378	10	0.51188	T	0.08	-14.2529	14.5843	0.68312	0.1461:0.8539:0.0:0.0	.	29	Q9P1P5	TAAR2_HUMAN	E	29	ENSP00000356908:G29E	ENSP00000356908:G29E	G	-	2	0	TAAR2	132980952	0.033000	0.19621	1.000000	0.80357	0.992000	0.81027	0.182000	0.16900	2.740000	0.93945	0.650000	0.86243	GGA		0.308	TAAR2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390735.1	NM_014626		4	70	4	70	---	---	---	---
EPM2A	7957	broad.mit.edu	37	6	145956563	145956563	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr6:145956563T>A	ENST00000367519.3	-	3	1061	c.536A>T	c.(535-537)aAa>aTa	p.K179I	EPM2A_ENST00000496228.1_5'UTR	NM_005670.3	NP_005661.1	O95278	EPM2A_HUMAN	epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)	179					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|habituation (GO:0046959)|inositol phosphate dephosphorylation (GO:0046855)|nervous system development (GO:0007399)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polysome (GO:0005844)	carbohydrate phosphatase activity (GO:0019203)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|starch binding (GO:2001070)			kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	7		Ovarian(120;0.162)		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)		ATGCTTCAGTTTGATGGTTAC	0.438																																						ENST00000367519.3																			0				kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	7						c.(535-537)aAa>aTa		epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)							127.0	112.0	117.0					6																	145956563		2203	4300	6503	SO:0001583	missense	7957				glycogen metabolic process	cytosol|endoplasmic reticulum|nucleus|plasma membrane|polysome	carbohydrate binding|identical protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:145956563T>A	AF284580	CCDS5206.1	6q24	2011-06-09			ENSG00000112425	ENSG00000112425		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	3413	protein-coding gene	gene with protein product		607566	"""epilepsy, progressive myoclonus type 2, Lafora disease (laforin)"""			9222970, 7485240	Standard	XM_006715564		Approved	LDE, LD	uc003qkw.3	B3EWF7	OTTHUMG00000015747	ENST00000367519.3:c.536A>T	6.37:g.145956563T>A	ENSP00000356489:p.Lys179Ile		Somatic				EPM2A_ENST00000496228.1_5'UTR	p.K179I	NM_005670.3	NP_005661.1	WXS	Illumina GAIIx	Phase_I	O95278	EPM2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)	3	1061	-		Ovarian(120;0.162)	179					B3KMU5|B4DRZ2|O95483|Q5T3F5|Q6IS15|Q8IU96|Q8IX24|Q8IX25|Q9BS66|Q9UEN2	Missense_Mutation	SNP	ENST00000367519.3	37	c.536A>T	CCDS5206.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.9|25.9	4.680428|4.680428	0.88542|0.88542	.|.	.|.	ENSG00000112425|ENSG00000112425	ENST00000535403;ENST00000367519;ENST00000392304;ENST00000324857|ENST00000450221;ENST00000435470	T|.	0.61274|.	0.12|.	5.91|5.91	4.76|4.76	0.60689|0.60689	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (1);|.	0.043038|.	0.85682|.	D|.	0.000000|.	T|T	0.47040|0.47040	0.1424|0.1424	L|L	0.49350|0.49350	1.555|1.555	0.58432|0.58432	D|D	0.999992|0.999992	D;D;D|.	0.71674|.	0.998;0.998;0.998|.	D;D;D|.	0.68943|.	0.961;0.929;0.942|.	T|T	0.45556|0.45556	-0.9253|-0.9253	10|5	0.59425|.	D|.	0.04|.	-20.7379|-20.7379	11.6928|11.6928	0.51525|0.51525	0.0:0.0687:0.0:0.9313|0.0:0.0687:0.0:0.9313	.|.	179;179;41|.	O95278;O95278-2;E1P599|.	EPM2A_HUMAN;.;.|.	I|Y	179|79;99	ENSP00000356489:K179I|.	ENSP00000320279:K179I|.	K|N	-|-	2|1	0|0	EPM2A|EPM2A	145998256|145998256	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.975000|5.975000	0.70475|0.70475	1.073000|1.073000	0.40885|0.40885	0.533000|0.533000	0.62120|0.62120	AAA|AAC		0.438	EPM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042564.1			33	71	33	71	---	---	---	---
AEBP1	165	broad.mit.edu	37	7	44152662	44152662	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr7:44152662C>A	ENST00000223357.3	+	19	2947	c.2642C>A	c.(2641-2643)cCt>cAt	p.P881H	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_Missense_Mutation_p.P456H	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	881	Interaction with PTEN. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GACAAGTTCCCTCATGAGAGT	0.577																																						ENST00000223357.3																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(2641-2643)cCt>cAt		AE binding protein 1							139.0	150.0	147.0					7																	44152662		2203	4300	6503	SO:0001583	missense	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44152662C>A	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.2642C>A	7.37:g.44152662C>A	ENSP00000223357:p.Pro881His		Somatic				AEBP1_ENST00000450684.2_Missense_Mutation_p.P456H	p.P881H	NM_001129.3	NP_001120.3	WXS	Illumina GAIIx	Phase_I	Q8IUX7	AEBP1_HUMAN			19	2947	+			881			Interaction with PTEN (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	c.2642C>A	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897975	0.91962	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	T;T	0.14516	2.5;2.5	5.27	5.27	0.74061	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.50616	0.1626	M	0.93150	3.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.64153	-0.6474	10	0.87932	D	0	-17.9528	18.8544	0.92246	0.0:1.0:0.0:0.0	.	456;881	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	H	881;456	ENSP00000223357:P881H;ENSP00000398878:P456H	ENSP00000223357:P881H	P	+	2	0	AEBP1	44119187	1.000000	0.71417	0.969000	0.41365	0.997000	0.91878	7.725000	0.84808	2.621000	0.88768	0.591000	0.81541	CCT		0.577	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		6	238	6	238	---	---	---	---
CCT6P3	643180	broad.mit.edu	37	7	64525465	64525465	+	RNA	SNP	T	T	G			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr7:64525465T>G	ENST00000426828.1	+	0	295				SNORA22_ENST00000384614.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		TCCAACGTCCTAATCATTGGA	0.398																																						ENST00000426828.1																			0																																																			643180							g.chr7:64525465T>G			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64525465T>G			Somatic						NR_033416.1		WXS	Illumina GAIIx	Phase_I					0	295	+									RNA	SNP	ENST00000426828.1	37																																																																																						0.398	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			39	80	39	80	---	---	---	---
RAD21	5885	broad.mit.edu	37	8	117859877	117859877	+	Silent	SNP	T	T	G			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr8:117859877T>G	ENST00000297338.2	-	14	2045	c.1758A>C	c.(1756-1758)cgA>cgC	p.R586R	RAD21_ENST00000523986.1_Silent_p.R90R|RAD21_ENST00000518055.1_Silent_p.R131R|UTP23_ENST00000517820.1_Intron|UTP23_ENST00000520733.1_Intron|RAD21_ENST00000517749.1_Silent_p.R24R	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	586					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TGTTCGTATTTCGACATAACT	0.388																																						ENST00000297338.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32						c.(1756-1758)cgA>cgC		RAD21 homolog (S. pombe)							88.0	81.0	83.0					8																	117859877		2203	4300	6503	SO:0001819	synonymous_variant	5885				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	g.chr8:117859877T>G	BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"""sister chromatid cohesion 1"""	606462	"""RAD21 (S. pombe) homolog"""			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.1758A>C	8.37:g.117859877T>G			Somatic				RAD21_ENST00000523986.1_Silent_p.R90R|RAD21_ENST00000517749.1_Silent_p.R24R|UTP23_ENST00000520733.1_Intron|UTP23_ENST00000517820.1_Intron|RAD21_ENST00000518055.1_Silent_p.R131R	p.R586R	NM_006265.2	NP_006256.1	WXS	Illumina GAIIx	Phase_I	O60216	RAD21_HUMAN			14	2045	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		586					A8K0E0|Q15001|Q99568	Silent	SNP	ENST00000297338.2	37	c.1758A>C	CCDS6321.1																																																																																				0.388	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	NM_006265		9	62	9	62	---	---	---	---
NOL6	65083	broad.mit.edu	37	9	33468419	33468419	+	Splice_Site	SNP	G	G	A	rs201544071	byFrequency	TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr9:33468419G>A	ENST00000379471.2	-	10	1295	c.1208C>T	c.(1207-1209)cCg>cTg	p.P403L	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Splice_Site_p.P343L			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	403					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AGCCAGGGCCGGCTTGGGGGG	0.577													G|||	3	0.000599042	0.0	0.0	5008	,	,		19071	0.003		0.0	False		,,,				2504	0.0					ENST00000379471.2																			0				endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27						c.(1207-1209)cCg>cTg		nucleolar protein 6 (RNA-associated)		G	LEU/PRO,LEU/PRO	0,4406		0,0,2203	60.0	62.0	61.0		1208,1208	5.3	1.0	9		61	1,8599	1.2+/-3.3	0,1,4299	yes	missense-near-splice,missense-near-splice	NOL6	NM_022917.4,NM_139235.3	98,98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	403/1147,403/700	33468419	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33468419G>A	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.1207-1C>T	9.37:g.33468419G>A			Somatic				NOL6_ENST00000455041.2_Splice_Site_p.P343L|NOL6_ENST00000464829.1_Intron	p.P403L			WXS	Illumina GAIIx	Phase_I	Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	10	1295	-			403					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Splice_Site	SNP	ENST00000379471.2	37	c.1208C>T		.	.	.	.	.	.	.	.	.	.	G	23.1	4.374148	0.82573	0.0	1.16E-4	ENSG00000165271	ENST00000353159;ENST00000297990;ENST00000379471;ENST00000325914;ENST00000455041	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.65144	0.2663	M	0.71206	2.165	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.996;1.0	D;D;D;P;D	0.97110	0.999;0.999;0.997;0.781;1.0	T	0.63950	-0.6521	10	0.41790	T	0.15	.	18.6286	0.91350	0.0:0.0:1.0:0.0	.	343;400;403;403;403	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4-3;Q9H6R4	.;.;.;.;NOL6_HUMAN	L	403;403;403;403;343	ENSP00000313978:P403L;ENSP00000297990:P403L;ENSP00000368784:P403L;ENSP00000395915:P343L	ENSP00000297990:P403L	P	-	2	0	NOL6	33458419	1.000000	0.71417	0.999000	0.59377	0.852000	0.48524	9.059000	0.93902	2.506000	0.84524	0.462000	0.41574	CCG		0.577	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917	Missense_Mutation	6	17	6	17	---	---	---	---
CLEC4C	170482	broad.mit.edu	37	12	7882195	7882195	+	Missense_Mutation	SNP	T	T	C	rs147980423		TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr12:7882195T>C	ENST00000542353.1	-	7	1129	c.639A>G	c.(637-639)atA>atG	p.I213M	CLEC4C_ENST00000360345.3_Missense_Mutation_p.I213M|CLEC4C_ENST00000354629.5_Missense_Mutation_p.I182M|CLEC4C_ENST00000540085.1_Missense_Mutation_p.I182M	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	213					innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.I213M(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		ATTTCATTTATATGTAGATCT	0.353																																						ENST00000542353.1																			1	Substitution - Missense(1)	p.I213M(1)	lung(1)	autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(637-639)atA>atG		C-type lectin domain family 4, member C		T	MET/ILE,MET/ILE	1,4405	2.1+/-5.4	0,1,2202	102.0	95.0	97.0		639,546	0.4	0.8	12	dbSNP_134	97	0,8600		0,0,4300	no	missense,missense	CLEC4C	NM_130441.2,NM_203503.1	10,10	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	213/214,182/183	7882195	1,13005	2203	4300	6503	SO:0001583	missense	170482				innate immune response	integral to membrane	sugar binding	g.chr12:7882195T>C	AF325460	CCDS8583.1, CCDS8584.1	12p13.2-p12.3	2008-02-05	2004-02-13	2005-02-11	ENSG00000198178	ENSG00000198178		"""C-type lectin domain containing"", ""CD molecules"""	13258	protein-coding gene	gene with protein product		606677	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7"""	CLECSF11, CLECSF7		11031109, 11536172	Standard	NM_130441		Approved	HECL, DLEC, BDCA2, CD303	uc001qth.1	Q8WTT0	OTTHUMG00000168441	ENST00000542353.1:c.639A>G	12.37:g.7882195T>C	ENSP00000440428:p.Ile213Met		Somatic				CLEC4C_ENST00000354629.5_Missense_Mutation_p.I182M|CLEC4C_ENST00000360345.3_Missense_Mutation_p.I213M|CLEC4C_ENST00000540085.1_Missense_Mutation_p.I182M	p.I213M	NM_130441.2	NP_569708.1	WXS	Illumina GAIIx	Phase_I	Q8WTT0	CLC4C_HUMAN		Kidney(36;0.0915)	7	1129	-			213					D3DUU3|Q3T1C3|Q6UXS8|Q8WXX8	Missense_Mutation	SNP	ENST00000542353.1	37	c.639A>G	CCDS8583.1	.	.	.	.	.	.	.	.	.	.	T	8.930	0.963293	0.18583	2.27E-4	0.0	ENSG00000198178	ENST00000542353;ENST00000354629;ENST00000540085;ENST00000360345	T;T;T;T	0.02579	4.31;4.24;4.24;4.31	1.66	0.398	0.16319	.	.	.	.	.	T	0.03178	0.0093	N	0.22421	0.69	0.20074	N	0.999931	B;D	0.53312	0.399;0.959	B;P	0.49301	0.057;0.606	T	0.45934	-0.9227	9	0.72032	D	0.01	.	4.4536	0.11633	0.0:0.0:0.3502:0.6498	.	182;213	Q8WTT0-2;Q8WTT0	.;CLC4C_HUMAN	M	213;182;182;213	ENSP00000440428:I213M;ENSP00000346648:I182M;ENSP00000445338:I182M;ENSP00000353500:I213M	ENSP00000346648:I182M	I	-	3	3	CLEC4C	7773462	0.182000	0.23173	0.766000	0.31476	0.049000	0.14656	-0.112000	0.10791	0.101000	0.17610	0.418000	0.28097	ATA		0.353	CLEC4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399750.1	NM_203503		5	38	5	38	---	---	---	---
CCNA1	8900	broad.mit.edu	37	13	37014263	37014263	+	Silent	SNP	T	T	C			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr13:37014263T>C	ENST00000255465.4	+	6	1305	c.1041T>C	c.(1039-1041)ttT>ttC	p.F347F	CCNA1_ENST00000418263.1_Silent_p.F346F|CCNA1_ENST00000449823.1_Silent_p.F303F|CCNA1_ENST00000440264.1_Silent_p.F303F			P78396	CCNA1_HUMAN	cyclin A1	347					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CCAACCAGTTTCTCCTTCAGT	0.458																																						ENST00000418263.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35						c.(1036-1038)ttT>ttC		cyclin A1							158.0	156.0	157.0					13																	37014263		2203	4300	6503	SO:0001819	synonymous_variant	8900				cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	g.chr13:37014263T>C	U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.1041T>C	13.37:g.37014263T>C			Somatic				CCNA1_ENST00000255465.4_Silent_p.F347F|CCNA1_ENST00000440264.1_Silent_p.F303F|CCNA1_ENST00000449823.1_Silent_p.F303F	p.F346F	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	WXS	Illumina GAIIx	Phase_I	P78396	CCNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)	6	1388	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	347					B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Silent	SNP	ENST00000255465.4	37	c.1038T>C	CCDS9357.1																																																																																				0.458	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914		28	86	28	86	---	---	---	---
TRMT61A	115708	broad.mit.edu	37	14	104000981	104000981	+	Silent	SNP	G	G	A			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr14:104000981G>A	ENST00000389749.4	+	4	800	c.693G>A	c.(691-693)ctG>ctA	p.L231L		NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN	tRNA methyltransferase 61 homolog A (S. cerevisiae)	231						nucleus (GO:0005634)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			skin(1)	1						TGAGCACCCTGGAGGTGCTGC	0.682																																						ENST00000389749.4																			0				skin(1)	1						c.(691-693)ctG>ctA		tRNA methyltransferase 61 homolog A (S. cerevisiae)							16.0	22.0	20.0					14																	104000981		2102	4197	6299	SO:0001819	synonymous_variant	115708					nucleus	protein binding|tRNA (adenine-N1-)-methyltransferase activity	g.chr14:104000981G>A	AK097771	CCDS41994.1	14q32	2009-01-09	2009-01-09	2009-01-09		ENSG00000166166			23790	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 172"""	C14orf172		16043508	Standard	NM_152307		Approved	FLJ40452, GCD14, Gcd14p, hTRM61	uc010aws.3	Q96FX7		ENST00000389749.4:c.693G>A	14.37:g.104000981G>A			Somatic					p.L231L	NM_152307.2	NP_689520.2	WXS	Illumina GAIIx	Phase_I	Q96FX7	TRM61_HUMAN			4	800	+			231					A6NN78|Q8N7Q9	Silent	SNP	ENST00000389749.4	37	c.693G>A	CCDS41994.1	.	.	.	.	.	.	.	.	.	.	G	4.554	0.102945	0.08731	.	.	ENSG00000166166	ENST00000299202	.	.	.	4.67	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-27.1472	7.9809	0.30183	0.0857:0.1624:0.752:0.0	.	.	.	.	X	133	.	.	W	+	2	0	TRMT61A	103070734	1.000000	0.71417	1.000000	0.80357	0.388000	0.30384	3.304000	0.51866	2.140000	0.66376	0.313000	0.20887	TGG		0.682	TRMT61A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414988.1	NM_152307		13	11	13	11	---	---	---	---
IGHG2	3501	broad.mit.edu	37	14	106110960	106110960	+	RNA	SNP	G	G	A			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr14:106110960G>A	ENST00000390545.2	-	0	167							P01859	IGHG2_HUMAN	immunoglobulin heavy constant gamma 2 (G2m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										AGGACTGTAGGACAGCCGGGA	0.632																																						ENST00000390545.2																			0																				63.0	69.0	67.0					14																	106110960		2106	4236	6342			3501							g.chr14:106110960G>A	J00230		14q32.33	2012-10-02			ENSG00000211893	ENSG00000211893		"""Immunoglobulins / IGH locus"""	5526	other	immunoglobulin gene		147110					Standard	NG_001019		Approved			P01859	OTTHUMG00000152482		14.37:g.106110960G>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	167	-								A6NE66	RNA	SNP	ENST00000390545.2	37																																																																																						0.632	IGHG2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326391.1	NG_001019		11	45	11	45	---	---	---	---
GRIN2A	2903	broad.mit.edu	37	16	9857616	9857616	+	Missense_Mutation	SNP	G	G	C	rs587780351		TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr16:9857616G>C	ENST00000396573.2	-	14	4094	c.3785C>G	c.(3784-3786)aCc>aGc	p.T1262S	GRIN2A_ENST00000330684.3_Missense_Mutation_p.T1262S|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T1262S|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000404927.2_Intron	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1262					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTGCTCCCCGGTGGCTGGGTT	0.522																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(3784-3786)aCc>aGc		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						103.0	93.0	97.0					16																	9857616		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9857616G>C		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3785C>G	16.37:g.9857616G>C	ENSP00000379818:p.Thr1262Ser		Somatic				GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000330684.3_Missense_Mutation_p.T1262S|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T1262S|GRIN2A_ENST00000562109.1_Intron	p.T1262S	NM_000833.3	NP_000824.1	WXS	Illumina GAIIx	Phase_I	Q12879	NMDE1_HUMAN			14	4094	-			1262					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3785C>G	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	2.639	-0.284593	0.05605	.	.	ENSG00000183454	ENST00000396573;ENST00000330684;ENST00000396575	T;T;T	0.09911	2.93;2.93;2.93	5.11	1.55	0.23275	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.764422	0.13289	N	0.399108	T	0.05640	0.0148	N	0.22421	0.69	0.22280	N	0.999235	B	0.06786	0.001	B	0.09377	0.004	T	0.40440	-0.9563	9	.	.	.	.	1.996	0.03456	0.1799:0.1217:0.4535:0.2448	.	1262	Q12879	NMDE1_HUMAN	S	1262	ENSP00000379818:T1262S;ENSP00000332549:T1262S;ENSP00000379820:T1262S	.	T	-	2	0	GRIN2A	9765117	0.028000	0.19301	0.355000	0.25773	0.997000	0.91878	0.453000	0.21811	0.515000	0.28320	0.655000	0.94253	ACC		0.522	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			3	81	3	81	---	---	---	---
OR1D2	4991	broad.mit.edu	37	17	2995484	2995484	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr17:2995484C>A	ENST00000331459.1	-	1	806	c.807G>T	c.(805-807)aaG>aaT	p.K269N		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	269					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						CTACTGAGTCCTTCACAGAGT	0.512																																						ENST00000331459.1																			0				kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						c.(805-807)aaG>aaT		olfactory receptor, family 1, subfamily D, member 2							110.0	104.0	106.0					17																	2995484		2203	4300	6503	SO:0001583	missense	4991				cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr17:2995484C>A	U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"""GPCR / Class A : Olfactory receptors"""	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.807G>T	17.37:g.2995484C>A	ENSP00000327585:p.Lys269Asn		Somatic					p.K269N	NM_002548.2	NP_002539.2	WXS	Illumina GAIIx	Phase_I	P34982	OR1D2_HUMAN			1	806	-			269					Q6IFL8|Q96RA4|Q9UM78	Missense_Mutation	SNP	ENST00000331459.1	37	c.807G>T	CCDS11019.1	.	.	.	.	.	.	.	.	.	.	c	12.81	2.049341	0.36181	.	.	ENSG00000184166	ENST00000331459	T	0.00107	8.72	3.21	-0.214	0.13161	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00178	0.0005	L	0.46885	1.475	0.09310	N	0.999999	P	0.46912	0.886	P	0.49361	0.608	T	0.39722	-0.9600	9	0.66056	D	0.02	.	3.4795	0.07597	0.1745:0.4799:0.0:0.3456	.	269	P34982	OR1D2_HUMAN	N	269	ENSP00000327585:K269N	ENSP00000327585:K269N	K	-	3	2	OR1D2	2942234	0.000000	0.05858	0.959000	0.39883	0.721000	0.41392	-1.650000	0.01991	0.077000	0.16863	0.543000	0.68304	AAG		0.512	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207207.1	NM_002548		4	62	4	62	---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7680790	7680790	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr17:7680790A>C	ENST00000572933.1	+	33	6545	c.5085A>C	c.(5083-5085)gaA>gaC	p.E1695D	DNAH2_ENST00000389173.2_Missense_Mutation_p.E1695D			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1695	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGTATTCAGAAGCCATCAGGG	0.498																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(5083-5085)gaA>gaC		dynein, axonemal, heavy chain 2							273.0	270.0	271.0					17																	7680790		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7680790A>C	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.5085A>C	17.37:g.7680790A>C	ENSP00000458355:p.Glu1695Asp		Somatic				DNAH2_ENST00000389173.2_Missense_Mutation_p.E1695D	p.E1695D			WXS	Illumina GAIIx	Phase_I	Q9P225	DYH2_HUMAN			33	6545	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1695			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.5085A>C	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.843483	0.32606	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.22336	1.96	5.51	0.222	0.15288	.	0.126125	0.52532	D	0.000080	T	0.11153	0.0272	L	0.31120	0.905	0.80722	D	1	B	0.14805	0.011	B	0.17979	0.02	T	0.21930	-1.0231	10	0.11485	T	0.65	.	6.4479	0.21887	0.5362:0.1288:0.335:0.0	.	1695	Q9P225	DYH2_HUMAN	D	1695	ENSP00000373825:E1695D	ENSP00000353818:E1695D	E	+	3	2	DNAH2	7621515	0.987000	0.35691	0.998000	0.56505	0.982000	0.71751	0.257000	0.18369	0.073000	0.16731	0.477000	0.44152	GAA		0.498	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		18	322	18	322	---	---	---	---
SPOP	8405	broad.mit.edu	37	17	47696432	47696432	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr17:47696432A>C	ENST00000393328.2	-	6	756	c.391T>G	c.(391-393)Tgg>Ggg	p.W131G	SPOP_ENST00000393331.3_Missense_Mutation_p.W131G|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G|SPOP_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000503676.1_Missense_Mutation_p.W131G	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.W131G(2)|p.W131R(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTGAATCCCCAGTCTTTGCCT	0.458										Prostate(2;0.17)																												ENST00000393331.3																			3	Substitution - Missense(3)	p.W131G(2)|p.W131R(1)	prostate(3)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(391-393)Tgg>Ggg		speckle-type POZ protein							121.0	124.0	123.0					17																	47696432		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696432A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.391T>G	17.37:g.47696432A>C	ENSP00000377001:p.Trp131Gly	Prostate(2;0.17)	Somatic				SPOP_ENST00000503676.1_Missense_Mutation_p.W131G|SPOP_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000393328.2_Missense_Mutation_p.W131G|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G	p.W131G	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	WXS	Illumina GAIIx	Phase_I	O43791	SPOP_HUMAN			7	861	-			131			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.391T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.058244	0.76074	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.81851	0.4910	H	0.95402	3.665	0.80722	D	1	P	0.43024	0.798	P	0.47786	0.557	D	0.87031	0.2135	10	0.72032	D	0.01	0.1404	15.258	0.73599	1.0:0.0:0.0:0.0	.	131	O43791	SPOP_HUMAN	G	131;131;131;131;15;131;84;131;131;131;131	ENSP00000377001:W131G;ENSP00000377004:W131G;ENSP00000240327:W131G;ENSP00000425905:W131G;ENSP00000420908:W131G;ENSP00000426986:W131G;ENSP00000420960:W131G;ENSP00000426262:W131G;ENSP00000424119:W131G	ENSP00000240327:W131G	W	-	1	0	SPOP	45051431	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.056000	0.93881	2.261000	0.74972	0.460000	0.39030	TGG		0.458	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		39	85	39	85	---	---	---	---
ACTG1	71	broad.mit.edu	37	17	79478956	79478956	+	Silent	SNP	G	G	A	rs532725688		TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr17:79478956G>A	ENST00000575842.1	-	2	762	c.336C>T	c.(334-336)ccC>ccT	p.P112P	ACTG1_ENST00000575087.1_Silent_p.P112P|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000573283.1_Silent_p.P112P|RP13-766D20.2_ENST00000430912.1_RNA|ACTG1_ENST00000331925.2_Silent_p.P112P			P63261	ACTG_HUMAN	actin, gamma 1	112					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			TGTTGGCCTTGGGGTTCAGGG	0.622																																						ENST00000575842.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29						c.(334-336)ccC>ccT		actin, gamma 1							44.0	55.0	51.0					17																	79478956		2203	4298	6501	SO:0001819	synonymous_variant	71				adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding	g.chr17:79478956G>A		CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"""deafness, autosomal dominant 20; deafness, autosomal dominant 26"""	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.336C>T	17.37:g.79478956G>A			Somatic				ACTG1_ENST00000573283.1_Silent_p.P112P|ACTG1_ENST00000575087.1_Silent_p.P112P|ACTG1_ENST00000331925.2_Silent_p.P112P	p.P112P			WXS	Illumina GAIIx	Phase_I	P63261	ACTG_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)		2	762	-	all_neural(118;0.0878)|Melanoma(429;0.242)		112					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Silent	SNP	ENST00000575842.1	37	c.336C>T	CCDS11782.1																																																																																				0.622	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439935.2	NM_001614		19	38	19	38	---	---	---	---
CATSPERD	257062	broad.mit.edu	37	19	5751816	5751816	+	Silent	SNP	C	C	G			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr19:5751816C>G	ENST00000381624.3	+	12	1207	c.1146C>G	c.(1144-1146)ctC>ctG	p.L382L	CATSPERD_ENST00000381614.2_Silent_p.L40L	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	382					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											ACCCTGAACTCCACGTTGGAA	0.468																																						ENST00000381624.3																			0											c.(1144-1146)ctC>ctG		catsper channel auxiliary subunit delta							68.0	63.0	64.0					19																	5751816		1919	4126	6045	SO:0001819	synonymous_variant	257062					integral to membrane		g.chr19:5751816C>G	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.1146C>G	19.37:g.5751816C>G			Somatic				CATSPERD_ENST00000381614.2_Silent_p.L40L	p.L382L	NM_152784.3	NP_689997.3	WXS	Illumina GAIIx	Phase_I	Q86XM0	TM146_HUMAN			12	1207	+			382					Q6ZRP1	Silent	SNP	ENST00000381624.3	37	c.1146C>G	CCDS12149.2																																																																																				0.468	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		9	57	9	57	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9086501	9086501	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr19:9086501C>T	ENST00000397910.4	-	1	5517	c.5314G>A	c.(5314-5316)Gag>Aag	p.E1772K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1772	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGTGACCTCCTTGGTCCAA	0.493																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(5314-5316)Gag>Aag		mucin 16, cell surface associated							120.0	113.0	115.0					19																	9086501		1970	4143	6113	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9086501C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.5314G>A	19.37:g.9086501C>T	ENSP00000381008:p.Glu1772Lys		Somatic					p.E1772K	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			1	5517	-			1772			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.5314G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	4.903	0.167778	0.09339	.	.	ENSG00000181143	ENST00000397910	T	0.02682	4.2	1.32	-2.12	0.07165	.	.	.	.	.	T	0.01320	0.0043	N	0.08118	0	.	.	.	P	0.34977	0.478	B	0.23716	0.048	T	0.45056	-0.9287	8	0.87932	D	0	.	4.9511	0.14015	0.0:0.509:0.0:0.491	.	1772	B5ME49	.	K	1772	ENSP00000381008:E1772K	ENSP00000381008:E1772K	E	-	1	0	MUC16	8947501	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-1.474000	0.02337	-0.700000	0.05070	0.305000	0.20034	GAG		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		25	57	25	57	---	---	---	---
SIPA1L3	23094	broad.mit.edu	37	19	38610375	38610375	+	Silent	SNP	G	G	A			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr19:38610375G>A	ENST00000222345.6	+	9	3230	c.2721G>A	c.(2719-2721)gtG>gtA	p.V907V		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	907					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCAAGGAGGTGGTGTTCAACT	0.542																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(2719-2721)gtG>gtA		signal-induced proliferation-associated 1 like 3							111.0	123.0	119.0					19																	38610375		2202	4300	6502	SO:0001819	synonymous_variant	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38610375G>A	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2721G>A	19.37:g.38610375G>A			Somatic					p.V907V	NM_015073.1	NP_055888.1	WXS	Illumina GAIIx	Phase_I	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		9	3230	+			907					Q2TV87	Silent	SNP	ENST00000222345.6	37	c.2721G>A	CCDS33007.1																																																																																				0.542	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		6	98	6	98	---	---	---	---
ZNF836	162962	broad.mit.edu	37	19	52658800	52658800	+	Silent	SNP	A	A	G			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr19:52658800A>G	ENST00000322146.8	-	5	2657	c.2136T>C	c.(2134-2136)taT>taC	p.Y712Y	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Silent_p.Y712Y	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	712					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)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GATTTCTGTGATATCTTGCAA	0.398																																						ENST00000322146.8																			0				endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(2134-2136)taT>taC		zinc finger protein 836							67.0	67.0	67.0					19																	52658800		1976	4174	6150	SO:0001819	synonymous_variant	162962				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52658800A>G	BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.2136T>C	19.37:g.52658800A>G			Somatic				CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Silent_p.Y712Y	p.Y712Y	NM_001102657.1	NP_001096127.1	WXS	Illumina GAIIx	Phase_I	Q6ZNA1	ZN836_HUMAN			5	2657	-			712						Silent	SNP	ENST00000322146.8	37	c.2136T>C	CCDS46162.1																																																																																				0.398	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		7	56	7	56	---	---	---	---
PLCB4	5332	broad.mit.edu	37	20	9388600	9388600	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr20:9388600G>T	ENST00000378493.1	+	18	1663	c.1648G>T	c.(1648-1650)Gca>Tca	p.A550S	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.A550S|PLCB4_ENST00000334005.3_Missense_Mutation_p.A550S|PLCB4_ENST00000414679.2_Missense_Mutation_p.A562S|PLCB4_ENST00000378473.3_Missense_Mutation_p.A562S|PLCB4_ENST00000378501.2_Missense_Mutation_p.A550S			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	550					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GGCGTGGATGGCATCTTATAA	0.448																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(1648-1650)Gca>Tca		phospholipase C, beta 4							168.0	153.0	158.0					20																	9388600		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9388600G>T		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.1648G>T	20.37:g.9388600G>T	ENSP00000367754:p.Ala550Ser		Somatic				PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.A550S|PLCB4_ENST00000414679.2_Missense_Mutation_p.A562S|PLCB4_ENST00000334005.3_Missense_Mutation_p.A550S|PLCB4_ENST00000278655.4_Missense_Mutation_p.A550S|PLCB4_ENST00000378473.3_Missense_Mutation_p.A562S	p.A550S	NM_000933.3	NP_000924.3	WXS	Illumina GAIIx	Phase_I	Q15147	PLCB4_HUMAN			18	1663	+			550					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.1648G>T	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609500	0.66558	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64	5.56	5.56	0.83823	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.121669	0.56097	D	0.000037	T	0.57095	0.2030	L	0.48642	1.525	0.80722	D	1	P;P;B;P	0.49358	0.923;0.481;0.141;0.716	P;B;B;B	0.54100	0.742;0.164;0.064;0.407	T	0.49485	-0.8935	10	0.32370	T	0.25	.	19.5275	0.95212	0.0:0.0:1.0:0.0	.	562;397;550;550	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	S	550;562;550;550;550;398	ENSP00000334105:A550S;ENSP00000367734:A562S;ENSP00000278655:A550S;ENSP00000367754:A550S;ENSP00000367762:A550S;ENSP00000390616:A398S	ENSP00000278655:A550S	A	+	1	0	PLCB4	9336600	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.486000	0.66856	2.616000	0.88540	0.563000	0.77884	GCA		0.448	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			26	96	26	96	---	---	---	---
SSX5	6758	broad.mit.edu	37	X	48053626	48053626	+	Silent	SNP	A	A	G			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chrX:48053626A>G	ENST00000376923.1	-	3	218	c.219T>C	c.(217-219)aaT>aaC	p.N73N	SSX5_ENST00000347757.1_Silent_p.N73N|SSX5_ENST00000311798.1_Silent_p.N114N			O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	73	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						CGACCCGTTTATTACGCATGA	0.483																																						ENST00000311798.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						c.(340-342)aaT>aaC		synovial sarcoma, X breakpoint 5							151.0	133.0	139.0					X																	48053626		2203	4299	6502	SO:0001819	synonymous_variant	6758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48053626A>G	BC016640	CCDS14288.1, CCDS14289.1	Xp11.23	2008-02-05			ENSG00000165583	ENSG00000165583			11339	protein-coding gene	gene with protein product		300327					Standard	NM_021015		Approved		uc004diz.1	O60225	OTTHUMG00000021471	ENST00000376923.1:c.219T>C	X.37:g.48053626A>G			Somatic				SSX5_ENST00000347757.1_Silent_p.N73N|SSX5_ENST00000376923.1_Silent_p.N73N	p.N114N	NM_021015.3	NP_066295.3	WXS	Illumina GAIIx	Phase_I	O60225	SSX5_HUMAN			5	394	-			73					Q5JQ59|Q5JQ60|Q96AW3	Silent	SNP	ENST00000376923.1	37	c.342T>C	CCDS14289.1																																																																																				0.483	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056466.1	NM_021015		27	25	27	25	---	---	---	---
ATP7A	538	broad.mit.edu	37	X	77264645	77264645	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chrX:77264645G>A	ENST00000341514.6	+	7	1909	c.1754G>A	c.(1753-1755)aGt>aAt	p.S585N	ATP7A_ENST00000343533.5_Missense_Mutation_p.S585N|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	585	HMA 6. {ECO:0000255|PROSITE- ProRule:PRU00280}.				blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ATAGAGTCTAGTCTCACAAAA	0.408																																						ENST00000341514.6																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(1753-1755)aGt>aAt		ATPase, Cu++ transporting, alpha polypeptide							208.0	204.0	205.0					X																	77264645		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77264645G>A	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.1754G>A	X.37:g.77264645G>A	ENSP00000345728:p.Ser585Asn		Somatic				ATP7A_ENST00000343533.5_Missense_Mutation_p.S585N|ATP7A_ENST00000350425.4_Intron	p.S585N	NM_000052.5	NP_000043.4	WXS	Illumina GAIIx	Phase_I	Q04656	ATP7A_HUMAN			7	1909	+			585			HMA 6.		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.1754G>A	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	G	0.209	-1.038069	0.02013	.	.	ENSG00000165240	ENST00000343533;ENST00000341514;ENST00000355691	D;D	0.86164	-2.08;-2.08	5.1	2.27	0.28462	Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1);Heavy-metal-associated, conserved site (1);	0.247613	0.39615	N	0.001310	T	0.68366	0.2993	N	0.05510	-0.035	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.15052	0.001;0.012	T	0.49418	-0.8942	10	0.16896	T	0.51	-3.37	4.7722	0.13162	0.1393:0.5084:0.2721:0.0801	.	585;595	Q04656;Q59HD1	ATP7A_HUMAN;.	N	585;585;595	ENSP00000343026:S585N;ENSP00000345728:S585N	ENSP00000345728:S585N	S	+	2	0	ATP7A	77151301	0.338000	0.24775	0.716000	0.30569	0.032000	0.12392	0.419000	0.21247	0.053000	0.16036	-2.164000	0.00325	AGT		0.408	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		5	142	5	142	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135426829	135426829	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chrX:135426829T>A	ENST00000394143.1	+	6	1255	c.964T>A	c.(964-966)Tca>Aca	p.S322T	GPR112_ENST00000412101.1_Missense_Mutation_p.S117T|GPR112_ENST00000287534.4_Missense_Mutation_p.S259T|GPR112_ENST00000394141.1_Missense_Mutation_p.S117T|GPR112_ENST00000370652.1_Missense_Mutation_p.S322T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	322					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATCAACTTCATCAGCCATCTC	0.383																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(964-966)Tca>Aca		G protein-coupled receptor 112							122.0	104.0	111.0					X																	135426829		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135426829T>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.964T>A	X.37:g.135426829T>A	ENSP00000377699:p.Ser322Thr		Somatic				GPR112_ENST00000412101.1_Missense_Mutation_p.S117T|GPR112_ENST00000287534.4_Missense_Mutation_p.S259T|GPR112_ENST00000370652.1_Missense_Mutation_p.S322T|GPR112_ENST00000394141.1_Missense_Mutation_p.S117T	p.S322T	NM_153834.3	NP_722576.3	WXS	Illumina GAIIx	Phase_I	Q8IZF6	GP112_HUMAN			6	1255	+	Acute lymphoblastic leukemia(192;0.000127)		322					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.964T>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	t	0.157	-1.085486	0.01873	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.27720	1.69;1.69;1.65;1.81;1.65	4.27	1.9	0.25705	.	.	.	.	.	T	0.08891	0.0220	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.36625	-0.9740	9	0.02654	T	1	.	3.8811	0.09079	0.1734:0.0:0.6081:0.2185	.	259;117;322	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	T	322;322;117;259;117	ENSP00000377699:S322T;ENSP00000359686:S322T;ENSP00000416526:S117T;ENSP00000287534:S259T;ENSP00000377697:S117T	ENSP00000287534:S259T	S	+	1	0	GPR112	135254495	0.856000	0.29760	0.078000	0.20375	0.010000	0.07245	0.342000	0.19926	0.168000	0.19655	-0.365000	0.07479	TCA		0.383	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			23	22	23	22	---	---	---	---
ANK3	288	broad.mit.edu	37	10	61834099	61834099	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr10:61834099delA	ENST00000280772.2	-	37	6731	c.6540delT	c.(6538-6540)gctfs	p.A2180fs	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2180					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GAACATCCCCAGCTGAGGGAT	0.463																																						ENST00000280772.2																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(6538-6540)gctfs		ankyrin 3, node of Ranvier (ankyrin G)							110.0	109.0	109.0					10																	61834099		2203	4300	6503	SO:0001589	frameshift_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61834099delA	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.6540delT	10.37:g.61834099delA	ENSP00000280772:p.Ala2180fs		Somatic				ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	p.A2180fs	NM_020987.3	NP_066267.2	WXS	Illumina GAIIx	Phase_I	Q12955	ANK3_HUMAN			37	6731	-								B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Frame_Shift_Del	DEL	ENST00000280772.2	37	c.6540delT	CCDS7258.1																																																																																				0.463	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		10	134	10	134	---	---	---	---
KMT2A	4297	broad.mit.edu	37	11	118374348	118374348	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr11:118374348delA	ENST00000389506.5	+	27	7732	c.7732delA	c.(7732-7734)accfs	p.T2578fs	KMT2A_ENST00000354520.4_Frame_Shift_Del_p.T2540fs|KMT2A_ENST00000534358.1_Frame_Shift_Del_p.T2581fs			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2578					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CCCCAATAATACCTCATGCCA	0.478																																						ENST00000534358.1																			0											c.(7741-7743)accfs		lysine (K)-specific methyltransferase 2A							62.0	63.0	63.0					11																	118374348		2200	4296	6496	SO:0001589	frameshift_variant	4297							g.chr11:118374348delA	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.7732delA	11.37:g.118374348delA	ENSP00000374157:p.Thr2578fs		Somatic				KMT2A_ENST00000389506.5_Frame_Shift_Del_p.T2578fs|KMT2A_ENST00000354520.4_Frame_Shift_Del_p.T2540fs	p.T2581fs	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2	WXS	Illumina GAIIx	Phase_I					27	7764	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Frame_Shift_Del	DEL	ENST00000389506.5	37	c.7741delA	CCDS31686.1																																																																																				0.478	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		11	35	11	35	---	---	---	---
