#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
DCAF11	80344	broad.mit.edu	37	14	24589052	24589052	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr14:24589052C>T	ENST00000446197.3	+	11	1766	c.1039C>T	c.(1039-1041)Cct>Tct	p.P347S	DCAF11_ENST00000396936.1_Missense_Mutation_p.P247S|DCAF11_ENST00000559115.1_Missense_Mutation_p.P347S|RP11-468E2.6_ENST00000558325.1_5'Flank|DCAF11_ENST00000396941.4_Missense_Mutation_p.P321S	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	347					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)											TGACCCCAAGCCTGTGGGTGC	0.562																																						ENST00000446197.3																			0											c.(1039-1041)Cct>Tct		DDB1 and CUL4 associated factor 11							57.0	48.0	51.0					14																	24589052		2203	4300	6503	SO:0001583	missense	0					CUL4 RING ubiquitin ligase complex	protein binding	g.chr14:24589052C>T	AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20258	protein-coding gene	gene with protein product		613317	"""WD repeat domain 23"""	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.1039C>T	14.37:g.24589052C>T	ENSP00000415556:p.Pro347Ser		Somatic				DCAF11_ENST00000396941.4_Missense_Mutation_p.P321S|DCAF11_ENST00000396936.1_Missense_Mutation_p.P247S|DCAF11_ENST00000559115.1_Missense_Mutation_p.P347S	p.P347S	NM_025230.4	NP_079506.3	WXS	Illumina GAIIx	Phase_I	Q8TEB1	DCA11_HUMAN			11	1766	+			347					B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Missense_Mutation	SNP	ENST00000446197.3	37	c.1039C>T	CCDS9610.1	.	.	.	.	.	.	.	.	.	.	c	31	5.077330	0.94000	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	T;T	0.61158	0.13;0.13	5.97	5.97	0.96955	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.72550	0.3474	M	0.64676	1.99	0.80722	D	1	D;D;P;D;D	0.89917	1.0;0.999;0.926;0.999;1.0	D;D;P;D;D	0.73708	0.981;0.932;0.793;0.974;0.976	T	0.65376	-0.6183	10	0.21014	T	0.42	-14.0051	17.9218	0.88969	0.0:1.0:0.0:0.0	.	270;321;247;347;347	Q59GN6;Q8TEB1-2;Q8TEB1-3;A8K9T2;Q8TEB1	.;.;.;.;DCA11_HUMAN	S	347;321;247;321	ENSP00000380142:P247S;ENSP00000380146:P321S	ENSP00000323680:P347S	P	+	1	0	DCAF11	23658892	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.609000	0.74173	2.837000	0.97791	0.655000	0.94253	CCT		0.562	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4			7	10	0	0	0	1	0	7	10				
FAM63B	54629	broad.mit.edu	37	15	59144134	59144134	+	Silent	SNP	T	T	A			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr15:59144134T>A	ENST00000559228.1	+	8	1789	c.1707T>A	c.(1705-1707)gcT>gcA	p.A569A	FAM63B_ENST00000450403.2_Silent_p.A569A			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	569	Gln-rich.									central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						AAGCAGCAGCTGCTGCTGCTG	0.473																																						ENST00000559228.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1705-1707)gcT>gcA		family with sequence similarity 63, member B							59.0	63.0	61.0					15																	59144134		1853	4080	5933	SO:0001819	synonymous_variant	54629							g.chr15:59144134T>A	AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.1707T>A	15.37:g.59144134T>A			Somatic				FAM63B_ENST00000450403.2_Silent_p.A569A	p.A569A			WXS	Illumina GAIIx	Phase_I	Q8NBR6	FA63B_HUMAN			8	1789	+			569			Gln-rich.		B2RTT8|Q9ULQ6	Silent	SNP	ENST00000559228.1	37	c.1707T>A	CCDS42046.1																																																																																				0.473	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1	NM_019092		3	66	0	0	0	1	0	3	66				
SLC34A2	10568	broad.mit.edu	37	4	25677956	25677956	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr4:25677956G>A	ENST00000382051.3	+	13	1708	c.1658G>A	c.(1657-1659)cGg>cAg	p.R553Q	SLC34A2_ENST00000504570.1_Missense_Mutation_p.R552Q|SLC34A2_ENST00000503434.1_Missense_Mutation_p.R552Q	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	553					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GCCGGCTGGCGGGTGCTGGTT	0.592			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"""solute carrier family 34 (sodium phosphate), member 2"""			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(1657-1659)cGg>cAg		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							117.0	113.0	114.0					4																	25677956		2203	4300	6503	SO:0001583	missense	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25677956G>A	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1658G>A	4.37:g.25677956G>A	ENSP00000371483:p.Arg553Gln		Somatic				SLC34A2_ENST00000503434.1_Missense_Mutation_p.R552Q|SLC34A2_ENST00000504570.1_Missense_Mutation_p.R552Q	p.R553Q	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	WXS	Illumina GAIIx	Phase_I	O95436	NPT2B_HUMAN			13	1708	+		Breast(46;0.0503)	553					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	37	c.1658G>A	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307474	0.23821	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	T;T;T	0.20738	2.05;2.05;2.05	5.18	2.32	0.28847	.	0.480143	0.24359	N	0.039213	T	0.08088	0.0202	N	0.02802	-0.49	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.36383	-0.9750	10	0.18276	T	0.48	-9.584	10.6039	0.45384	0.5138:0.3697:0.1166:0.0	.	552;553	O95436-2;O95436	.;NPT2B_HUMAN	Q	552;553;552	ENSP00000425501:R552Q;ENSP00000371483:R553Q;ENSP00000423021:R552Q	ENSP00000371483:R553Q	R	+	2	0	SLC34A2	25287054	0.004000	0.15560	0.429000	0.26710	0.954000	0.61252	0.134000	0.15932	0.199000	0.20427	-0.234000	0.12200	CGG		0.592	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		4	98	0	0	0	1	0	4	98				
LILRB5	10990	broad.mit.edu	37	19	54754843	54754843	+	Intron	SNP	A	A	G			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr19:54754843A>G	ENST00000316219.5	-	13	1734				LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000450632.1_Missense_Mutation_p.S598P|CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000449561.2_Intron	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607																																						ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1792-1794)Tcc>Ccc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							43.0	42.0	42.0					19																	54754843		2191	4270	6461	SO:0001627	intron_variant	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54754843A>G	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1627-47T>C	19.37:g.54754843A>G			Somatic				LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron	p.S598P			WXS	Illumina GAIIx	Phase_I	O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	13	1869	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		423					Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.1792T>C	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	A	10.02	1.237390	0.22711	.	.	ENSG00000105609	ENST00000450632	T	0.00497	6.98	1.74	-0.656	0.11436	.	.	.	.	.	T	0.00328	0.0010	.	.	.	0.09310	N	1	B	0.24576	0.106	B	0.17433	0.018	T	0.45702	-0.9243	8	0.87932	D	0	.	1.6956	0.02861	0.475:0.0:0.2022:0.3228	.	598	C9JMK7	.	P	598	ENSP00000414225:S598P	ENSP00000414225:S598P	S	-	1	0	LILRB5	59446655	0.000000	0.05858	0.043000	0.18650	0.608000	0.37181	-0.873000	0.04214	-0.256000	0.09473	0.332000	0.21555	TCC		0.607	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			4	22	0	0	0	1	0	4	22				
SLCO2B1	11309	broad.mit.edu	37	11	74876892	74876892	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr11:74876892C>G	ENST00000289575.5	+	4	741	c.346C>G	c.(346-348)Cga>Gga	p.R116G	SLCO2B1_ENST00000525650.1_Intron|SLCO2B1_ENST00000532236.1_5'UTR|SLCO2B1_ENST00000454962.2_5'UTR|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000341411.4_5'UTR|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.R94G	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	116					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	GCACCGACCCCGAATGATTGG	0.572																																						ENST00000289575.5																			0				breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39						c.(346-348)Cga>Gga		solute carrier organic anion transporter family, member 2B1	Ergoloid mesylate(DB01049)						159.0	151.0	154.0					11																	74876892		2200	4293	6493	SO:0001583	missense	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74876892C>G	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.346C>G	11.37:g.74876892C>G	ENSP00000289575:p.Arg116Gly		Somatic				SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000341411.4_5'UTR|SLCO2B1_ENST00000525650.1_Intron|SLCO2B1_ENST00000532236.1_5'UTR|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.R94G|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000454962.2_5'UTR	p.R116G	NM_007256.4	NP_009187	WXS	Illumina GAIIx	Phase_I	O94956	SO2B1_HUMAN			4	741	+			116					A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	37	c.346C>G	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095852	0.56075	.	.	ENSG00000137491	ENST00000289575;ENST00000527180;ENST00000534186;ENST00000428359	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	4.24	4.24	0.50183	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.64402	D	0.000001	T	0.74943	0.3783	M	0.93507	3.425	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.82617	-0.0369	9	.	.	.	.	14.1582	0.65430	0.0:1.0:0.0:0.0	.	116	O94956	SO2B1_HUMAN	G	116;94;94;94	ENSP00000289575:R116G;ENSP00000436513:R94G;ENSP00000433872:R94G;ENSP00000388912:R94G	.	R	+	1	2	SLCO2B1	74554540	1.000000	0.71417	0.918000	0.36340	0.145000	0.21501	5.160000	0.64929	2.180000	0.69256	0.563000	0.77884	CGA		0.572	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		9	147	0	0	0	1	0	9	147				
CNTN5	53942	broad.mit.edu	37	11	100141958	100141958	+	Missense_Mutation	SNP	C	C	T	rs370172429		TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr11:100141958C>T	ENST00000524871.1	+	18	2589	c.2299C>T	c.(2299-2301)Cgc>Tgc	p.R767C	CNTN5_ENST00000418526.2_Missense_Mutation_p.R693C|CNTN5_ENST00000528682.1_Missense_Mutation_p.R767C|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Missense_Mutation_p.R767C|CNTN5_ENST00000279463.3_Missense_Mutation_p.R767C	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	767	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCGAATGATCCGCACAAATGA	0.443													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16249	0.0		0.0	False		,,,				2504	0.0					ENST00000524871.1																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2299-2301)Cgc>Tgc		contactin 5		C	CYS/ARG,CYS/ARG	1,3835		0,1,1917	87.0	85.0	85.0		2299,2077	5.5	1.0	11		85	0,8262		0,0,4131	no	missense,missense	CNTN5	NM_014361.3,NM_175566.2	180,180	0,1,6048	TT,TC,CC		0.0,0.0261,0.0083	probably-damaging,probably-damaging	767/1101,693/1027	100141958	1,12097	1918	4131	6049	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:100141958C>T	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.2299C>T	11.37:g.100141958C>T	ENSP00000435637:p.Arg767Cys		Somatic				CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.R693C|CNTN5_ENST00000279463.3_Missense_Mutation_p.R767C|CNTN5_ENST00000528682.1_Missense_Mutation_p.R767C|CNTN5_ENST00000527185.1_Missense_Mutation_p.R767C	p.R767C	NM_014361.3	NP_055176.1	WXS	Illumina GAIIx	Phase_I	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	18	2589	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	767					A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.2299C>T	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.408139	0.62399	2.61E-4	0.0	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	5.51	5.51	0.81932	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76140	0.3946	M	0.90705	3.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.80668	-0.1280	10	0.87932	D	0	.	12.1217	0.53895	0.2713:0.7287:0.0:0.0	.	693;767	O94779-2;O94779	.;CNTN5_HUMAN	C	767;767;767;693;767	ENSP00000433575:R767C;ENSP00000436185:R767C;ENSP00000435637:R767C;ENSP00000393229:R693C;ENSP00000279463:R767C	ENSP00000279463:R767C	R	+	1	0	CNTN5	99647168	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.394000	0.44450	2.590000	0.87494	0.467000	0.42956	CGC		0.443	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		12	17	0	0	0	1	0	12	17				
SF3B1	23451	broad.mit.edu	37	2	198267484	198267484	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr2:198267484G>A	ENST00000335508.6	-	14	1964	c.1873C>T	c.(1873-1875)Cgt>Tgt	p.R625C	SF3B1_ENST00000462613.1_5'Flank|SNORA4_ENST00000365564.1_RNA	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	625					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.R625C(5)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTTGTGTTACGGACATACTCA	0.433			Mis		myelodysplastic syndrome																																	ENST00000335508.6				Dom	yes		2	2q33.1	23451	Mis	"""splicing factor 3b, subunit 1, 155kDa"""			L			myelodysplastic syndrome		5	Substitution - Missense(5)	p.R625C(5)	haematopoietic_and_lymphoid_tissue(5)	NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1873-1875)Cgt>Tgt		splicing factor 3b, subunit 1, 155kDa							93.0	90.0	91.0					2																	198267484		2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267484G>A	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.1873C>T	2.37:g.198267484G>A	ENSP00000335321:p.Arg625Cys		Somatic					p.R625C	NM_012433.2	NP_036565.2	WXS	Illumina GAIIx	Phase_I	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	1964	-								E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1873C>T	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873082	0.72180	.	.	ENSG00000115524	ENST00000335508	T	0.74421	-0.84	5.82	4.93	0.64822	Armadillo-like helical (1);Armadillo-type fold (1);	0.053241	0.64402	D	0.000001	D	0.90331	0.6975	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.93337	0.6706	10	0.87932	D	0	.	15.2676	0.73675	0.0:0.0:0.7451:0.2549	.	625	O75533	SF3B1_HUMAN	C	625	ENSP00000335321:R625C	ENSP00000335321:R625C	R	-	1	0	SF3B1	197975729	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.689000	0.61723	1.444000	0.47605	-0.182000	0.12963	CGT		0.433	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			24	34	0	0	0	1	0	24	34				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			0							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G			Somatic								WXS	Illumina GAIIx	Phase_I					0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	31	0	0	0	1	0	3	31				
LILRP2	79166	broad.mit.edu	37	19	55221570	55221570	+	RNA	SNP	A	A	C	rs554223424	byFrequency	TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr19:55221570A>C	ENST00000413439.1	+	0	1350									leukocyte immunoglobulin-like receptor pseudogene 2																		TACAGATGCTACGGTGCACAC	0.677													.|||	5	0.000998403	0.0	0.0014	5008	,	,		16629	0.003		0.001	False		,,,				2504	0.0				Ovarian(107;788 1543 20399 31552 46707)	ENST00000413439.1																			0																																																			0							g.chr19:55221570A>C	AF072100		19q13.4	2010-02-17			ENSG00000240258	ENSG00000170858		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"""	15497	pseudogene	pseudogene						10941842	Standard	NR_003061		Approved	ILT10, CD85m	uc002qgs.1		OTTHUMG00000065886		19.37:g.55221570A>C			Somatic								WXS	Illumina GAIIx	Phase_I					0	1350	+									RNA	SNP	ENST00000413439.1	37																																																																																						0.677	LILRP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000141240.2	NM_024317		3	44	0	0	0	1	0	3	44				
USP34	9736	broad.mit.edu	37	2	61633100	61633100	+	Missense_Mutation	SNP	T	T	G			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr2:61633100T>G	ENST00000398571.2	-	3	371	c.295A>C	c.(295-297)Aat>Cat	p.N99H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	99					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCTGCTTGATTACTCTCATCT	0.353																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(295-297)Aat>Cat		ubiquitin specific peptidase 34							189.0	171.0	177.0					2																	61633100		1876	4108	5984	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61633100T>G	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.295A>C	2.37:g.61633100T>G	ENSP00000381577:p.Asn99His		Somatic					p.N99H	NM_014709.3	NP_055524.3	WXS	Illumina GAIIx	Phase_I	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		3	371	-			99					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.295A>C	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	T	13.67	2.307229	0.40795	.	.	ENSG00000115464	ENST00000398571	T	0.14893	2.47	6.17	6.17	0.99709	.	.	.	.	.	T	0.16128	0.0388	L	0.29908	0.895	0.36594	D	0.874275	P	0.50943	0.94	B	0.41723	0.365	T	0.05370	-1.0889	9	0.49607	T	0.09	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	99	Q70CQ2	UBP34_HUMAN	H	99	ENSP00000381577:N99H	ENSP00000381577:N99H	N	-	1	0	USP34	61486604	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.773000	0.38563	2.371000	0.80710	0.533000	0.62120	AAT		0.353	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			3	103	0	0	0	1	0	3	103				
SLC5A12	159963	broad.mit.edu	37	11	26725463	26725463	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr11:26725463G>A	ENST00000396005.3	-	5	866	c.557C>T	c.(556-558)gCa>gTa	p.A186V	SLC5A12_ENST00000280467.6_Missense_Mutation_p.A186V	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	186					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CATCTGAAATGCATCTGTCCA	0.423																																						ENST00000396005.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						c.(556-558)gCa>gTa		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12							216.0	192.0	200.0					11																	26725463		2203	4299	6502	SO:0001583	missense	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26725463G>A	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.557C>T	11.37:g.26725463G>A	ENSP00000379326:p.Ala186Val		Somatic				SLC5A12_ENST00000280467.6_Missense_Mutation_p.A186V	p.A186V	NM_178498.3	NP_848593.2	WXS	Illumina GAIIx	Phase_I	Q1EHB4	SC5AC_HUMAN			5	866	-			186					Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	c.557C>T	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	G	6.034	0.374686	0.11409	.	.	ENSG00000148942	ENST00000396005;ENST00000280467	D;D	0.87103	-2.21;-2.21	5.16	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.65554	0.2702	N	0.00521	-1.4	0.50313	D	0.999869	B;B	0.25609	0.006;0.13	B;B	0.36666	0.023;0.23	T	0.68142	-0.5487	10	0.02654	T	1	.	14.0444	0.64695	0.0748:0.0:0.9252:0.0	.	186;186	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	V	186	ENSP00000379326:A186V;ENSP00000280467:A186V	ENSP00000280467:A186V	A	-	2	0	SLC5A12	26682039	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.859000	0.55987	2.412000	0.81896	0.484000	0.47621	GCA		0.423	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		66	67	0	0	0	1	0	66	67				
ACP2	53	broad.mit.edu	37	11	47261683	47261683	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr11:47261683C>T	ENST00000256997.3	-	11	1372	c.1256G>A	c.(1255-1257)gGg>gAg	p.G419E	ACP2_ENST00000529444.1_Missense_Mutation_p.G356E|ACP2_ENST00000527256.1_Missense_Mutation_p.G387E|ACP2_ENST00000525230.1_5'UTR|ACP2_ENST00000537863.1_Missense_Mutation_p.G232E|ACP2_ENST00000533929.1_Missense_Mutation_p.G391E	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal	419					dephosphorylation (GO:0016311)|lysosome organization (GO:0007040)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)	acid phosphatase activity (GO:0003993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						GTGGTCCTCCCCATCTGCGAC	0.652																																					Melanoma(90;262 1440 11488 44828 48531)	ENST00000256997.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						c.(1255-1257)gGg>gAg		acid phosphatase 2, lysosomal							83.0	62.0	69.0					11																	47261683		2201	4298	6499	SO:0001583	missense	53					integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity	g.chr11:47261683C>T	X15525	CCDS7928.1, CCDS44583.1	11p11.2	2008-02-05			ENSG00000134575	ENSG00000134575	3.1.3.2		123	protein-coding gene	gene with protein product		171650				975882	Standard	NM_001610		Approved		uc001nei.3	P11117	OTTHUMG00000166949	ENST00000256997.3:c.1256G>A	11.37:g.47261683C>T	ENSP00000256997:p.Gly419Glu		Somatic				ACP2_ENST00000533929.1_Missense_Mutation_p.G391E|ACP2_ENST00000529444.1_Missense_Mutation_p.G356E|ACP2_ENST00000537863.1_Missense_Mutation_p.G232E|ACP2_ENST00000527256.1_Missense_Mutation_p.G387E|ACP2_ENST00000525230.1_5'UTR	p.G419E	NM_001610.2	NP_001601.1	WXS	Illumina GAIIx	Phase_I	P11117	PPAL_HUMAN			11	1372	-			419					E9PCI1|Q561W5|Q9BTU7	Missense_Mutation	SNP	ENST00000256997.3	37	c.1256G>A	CCDS7928.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.663225	0.47572	.	.	ENSG00000134575	ENST00000256997;ENST00000529444;ENST00000527256;ENST00000537863;ENST00000540414;ENST00000533929	T;T;T;T;T	0.10960	3.16;3.01;3.18;2.82;3.01	5.97	4.05	0.47172	.	0.156132	0.56097	D	0.000025	T	0.06050	0.0157	N	0.08118	0	0.37141	D	0.901701	B;B;B;B	0.11235	0.003;0.003;0.003;0.004	B;B;B;B	0.13407	0.009;0.009;0.005;0.008	T	0.31503	-0.9941	10	0.30078	T	0.28	.	11.7446	0.51813	0.139:0.7276:0.1334:0.0	.	356;387;391;419	E9PHY0;B7Z7D2;E9PQY3;P11117	.;.;.;PPAL_HUMAN	E	419;356;387;232;409;391	ENSP00000256997:G419E;ENSP00000436658:G356E;ENSP00000432205:G387E;ENSP00000441933:G232E;ENSP00000432439:G391E	ENSP00000256997:G419E	G	-	2	0	ACP2	47218259	1.000000	0.71417	0.977000	0.42913	0.968000	0.65278	2.317000	0.43770	0.802000	0.34089	0.655000	0.94253	GGG		0.652	ACP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392022.2	NM_001610		6	49	0	0	0	1	0	6	49				
KCNK3	3777	broad.mit.edu	37	2	26950643	26950643	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr2:26950643G>A	ENST00000302909.3	+	2	517	c.392G>A	c.(391-393)cGc>cAc	p.R131H		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	131					brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Doxapram(DB00561)|Halothane(DB01159)	CTGGGCGAGCGCATCAACACC	0.652																																					GBM(80;1457 1631 27100 45946)	ENST00000302909.3																			0				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(391-393)cGc>cAc		potassium channel, subfamily K, member 3							86.0	78.0	81.0					2																	26950643		2203	4300	6503	SO:0001583	missense	3777				synaptic transmission	integral to plasma membrane		g.chr2:26950643G>A	AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6278	protein-coding gene	gene with protein product		603220				9312005, 9721223, 16382106	Standard	NM_002246		Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.392G>A	2.37:g.26950643G>A	ENSP00000306275:p.Arg131His		Somatic					p.R131H	NM_002246.2	NP_002237.1	WXS	Illumina GAIIx	Phase_I	O14649	KCNK3_HUMAN			2	517	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		131					Q53SU2	Missense_Mutation	SNP	ENST00000302909.3	37	c.392G>A	CCDS1727.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844252	0.91197	.	.	ENSG00000171303	ENST00000538762;ENST00000302909	T	0.32272	1.46	5.27	5.27	0.74061	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.52141	0.1716	L	0.55017	1.72	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.52510	-0.8566	10	0.87932	D	0	.	16.7393	0.85455	0.0:0.0:1.0:0.0	.	131	O14649	KCNK3_HUMAN	H	8;131	ENSP00000306275:R131H	ENSP00000306275:R131H	R	+	2	0	KCNK3	26804147	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.790000	0.99075	2.619000	0.88677	0.561000	0.74099	CGC		0.652	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	NM_002246		3	59	0	0	0	1	0	3	59				
MAOB	4129	broad.mit.edu	37	X	43703012	43703012	+	Splice_Site	SNP	T	T	A			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chrX:43703012T>A	ENST00000378069.4	-	2	194		c.e2-2		MAOB_ENST00000536181.1_Splice_Site|MAOB_ENST00000487544.1_Splice_Site|MAOB_ENST00000538942.1_Splice_Site	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B						negative regulation of serotonin secretion (GO:0014063)|positive regulation of dopamine metabolic process (GO:0045964)|response to aluminum ion (GO:0010044)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|primary amine oxidase activity (GO:0008131)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Amphetamine(DB00182)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Procaine(DB00721)|Rasagiline(DB01367)|Selegiline(DB01037)|Sertraline(DB01104)|Tranylcypromine(DB00752)|Zonisamide(DB00909)	CTGCCATACCTGGGAGAAAAG	0.502																																						ENST00000378069.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21						c.e2-2		monoamine oxidase B	Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)						67.0	55.0	59.0					X																	43703012		2203	4300	6503	SO:0001630	splice_region_variant	4129				xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity	g.chrX:43703012T>A		CCDS14261.1	Xp11.4-p11.3	2008-02-05			ENSG00000069535	ENSG00000069535	1.4.3.4		6834	protein-coding gene	gene with protein product		309860					Standard	NM_000898		Approved		uc004dfz.4	P27338	OTTHUMG00000021388	ENST00000378069.4:c.47-2A>T	X.37:g.43703012T>A			Somatic				MAOB_ENST00000487544.1_Splice_Site|MAOB_ENST00000538942.1_Splice_Site|MAOB_ENST00000536181.1_Splice_Site		NM_000898.4	NP_000889.3	WXS	Illumina GAIIx	Phase_I	P27338	AOFB_HUMAN			2	194	-								B2R6R3|B7Z5H3|D3DWC3|Q7Z6S2	Splice_Site	SNP	ENST00000378069.4	37		CCDS14261.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.490090	0.84962	.	.	ENSG00000069535	ENST00000378069	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7115	0.69235	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAOB	43587956	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	5.579000	0.67457	1.855000	0.53841	0.486000	0.48141	.		0.502	MAOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056303.1	NM_000898	Intron	11	48	0	0	0	1	0	11	48				
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4				Dom	yes		9	9q21	2776	Mis	"""guanine nucleotide binding protein (G protein), q polypeptide"""			E			uveal melanoma		153	Substitution - Missense(153)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa		guanine nucleotide binding protein (G protein), q polypeptide							108.0	105.0	106.0					9																	80409488		2203	4300	6503	SO:0001583	missense	2776				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G		CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		Somatic				GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	WXS	Illumina GAIIx	Phase_I	P50148	GNAQ_HUMAN			5	848	-			209					O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	GNAQ	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1	NM_002072		30	45	0	0	0	1	0	30	45				
RUNDC1	146923	broad.mit.edu	37	17	41143307	41143307	+	Silent	SNP	G	G	A			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr17:41143307G>A	ENST00000361677.1	+	5	1428	c.1416G>A	c.(1414-1416)ccG>ccA	p.P472P		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	472	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.									breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		CCATGCACCCGTGGGAGCTCT	0.577																																						ENST00000361677.1																			0				breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						c.(1414-1416)ccG>ccA		RUN domain containing 1							60.0	60.0	60.0					17																	41143307		2203	4300	6503	SO:0001819	synonymous_variant	146923							g.chr17:41143307G>A	AL831813	CCDS11448.1	17q21.31	2004-02-27				ENSG00000198863			25418	protein-coding gene	gene with protein product						12477932	Standard	NM_173079		Approved	DKFZp761H0421	uc002ici.1	Q96C34		ENST00000361677.1:c.1416G>A	17.37:g.41143307G>A			Somatic					p.P472P	NM_173079.2	NP_775102	WXS	Illumina GAIIx	Phase_I	Q96C34	RUND1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	5	1428	+		Breast(137;0.00499)	472			RUN.		Q6Y2K8|Q8IXT9|Q8N3W1	Silent	SNP	ENST00000361677.1	37	c.1416G>A	CCDS11448.1																																																																																				0.577	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452464.1	NM_173079		11	56	0	0	0	1	0	11	56				
G6PD	2539	broad.mit.edu	37	X	153761236	153761236	+	Silent	SNP	G	G	A			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chrX:153761236G>A	ENST00000393564.2	-	9	1084	c.972C>T	c.(970-972)gaC>gaT	p.D324D	G6PD_ENST00000393562.2_Silent_p.D354D|G6PD_ENST00000369620.2_Silent_p.D370D|G6PD_ENST00000497281.1_5'Flank	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	324					carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.D354D(1)|p.D324D(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCGTGGGGTCGTCCAGGTACC	0.617																																						ENST00000393562.2																			2	Substitution - coding silent(2)	p.D354D(1)|p.D324D(1)	endometrium(2)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18						c.(1060-1062)gaC>gaT		glucose-6-phosphate dehydrogenase							81.0	65.0	71.0					X																	153761236		2203	4300	6503	SO:0001819	synonymous_variant	2539				cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity	g.chrX:153761236G>A	X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.972C>T	X.37:g.153761236G>A			Somatic				G6PD_ENST00000393564.2_Silent_p.D324D|G6PD_ENST00000369620.2_Silent_p.D370D	p.D354D	NM_000402.3	NP_000393.4	WXS	Illumina GAIIx	Phase_I	P11413	G6PD_HUMAN			9	1445	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		324					D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Silent	SNP	ENST00000393564.2	37	c.1062C>T	CCDS44023.1																																																																																				0.617	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3	NM_000402		4	82	0	0	0	1	0	4	82				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G			Somatic						NR_003086.1		WXS	Illumina GAIIx	Phase_I					0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	61	0	0	0	1	0	3	61				
WDFY3	23001	broad.mit.edu	37	4	85715780	85715780	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr4:85715780G>A	ENST00000295888.4	-	21	3786	c.3379C>T	c.(3379-3381)Cgc>Tgc	p.R1127C	WDFY3_ENST00000322366.6_Missense_Mutation_p.R1127C	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1127					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTTGCTCGGCGCACAACAGTA	0.448																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(3379-3381)Cgc>Tgc		WD repeat and FYVE domain containing 3							131.0	132.0	132.0					4																	85715780		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85715780G>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.3379C>T	4.37:g.85715780G>A	ENSP00000295888:p.Arg1127Cys		Somatic				WDFY3_ENST00000295888.4_Missense_Mutation_p.R1127C	p.R1127C			WXS	Illumina GAIIx	Phase_I	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	21	3786	-		Hepatocellular(203;0.114)	1127					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.3379C>T	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133401	0.56828	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.58940	0.3;0.3	5.16	5.16	0.70880	Concanavalin A-like lectin/glucanase (1);	0.000000	0.85682	D	0.000000	T	0.74137	0.3677	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.75013	-0.3467	10	0.46703	T	0.11	.	12.6981	0.57016	0.0:0.0:0.7124:0.2876	.	1127	Q8IZQ1	WDFY3_HUMAN	C	1127	ENSP00000318466:R1127C;ENSP00000295888:R1127C	ENSP00000295888:R1127C	R	-	1	0	WDFY3	85934804	1.000000	0.71417	0.965000	0.40720	0.278000	0.26855	5.903000	0.69877	2.563000	0.86464	0.650000	0.86243	CGC		0.448	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		4	124	0	0	0	1	0	4	124				
LCAT	3931	broad.mit.edu	37	16	67976291	67976291	+	Silent	SNP	G	G	A			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr16:67976291G>A	ENST00000264005.5	-	5	752	c.723C>T	c.(721-723)atC>atT	p.I241I	CTC-479C5.17_ENST00000590594.1_lincRNA	NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	241					cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of high-density lipoprotein particle assembly (GO:0090107)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	apolipoprotein A-I binding (GO:0034186)|phosphatidylcholine-sterol O-acyltransferase activity (GO:0004607)			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		GCATGGGCTTGATGGAGCCAC	0.587																																						ENST00000264005.5																			0				cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16						c.(721-723)atC>atT		lecithin-cholesterol acyltransferase							49.0	54.0	53.0					16																	67976291		2198	4300	6498	SO:0001819	synonymous_variant	3931				cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity	g.chr16:67976291G>A		CCDS10854.1	16q22.1	2012-10-02			ENSG00000213398	ENSG00000213398	2.3.1.43		6522	protein-coding gene	gene with protein product		606967					Standard	NM_000229		Approved		uc002euy.1	P04180	OTTHUMG00000137551	ENST00000264005.5:c.723C>T	16.37:g.67976291G>A			Somatic					p.I241I	NM_000229.1	NP_000220.1	WXS	Illumina GAIIx	Phase_I	P04180	LCAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)	5	752	-		Ovarian(137;0.0563)	241					Q53XQ3	Silent	SNP	ENST00000264005.5	37	c.723C>T	CCDS10854.1																																																																																				0.587	LCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268885.3			4	24	0	0	0	1	0	4	24				
CNST	163882	broad.mit.edu	37	1	246823587	246823587	+	Silent	SNP	A	A	G			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr1:246823587A>G	ENST00000366513.4	+	10	2192	c.1923A>G	c.(1921-1923)ccA>ccG	p.P641P		NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	641					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						AACACAAACCATCTAAGCGAA	0.428																																						ENST00000366513.4																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						c.(1921-1923)ccA>ccG		consortin, connexin sorting protein							181.0	164.0	170.0					1																	246823587		2203	4300	6503	SO:0001819	synonymous_variant	163882				positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	g.chr1:246823587A>G	AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26486	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 64"""	613439	"""chromosome 1 open reading frame 71"""	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.1923A>G	1.37:g.246823587A>G			Somatic					p.P641P	NM_152609.2	NP_689822.2	WXS	Illumina GAIIx	Phase_I	Q6PJW8	CNST_HUMAN			10	2192	+			641					Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Silent	SNP	ENST00000366513.4	37	c.1923A>G	CCDS1628.1																																																																																				0.428	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609		47	85	0	0	0	1	0	47	85				
ZFYVE19	84936	broad.mit.edu	37	15	41099958	41099958	+	Silent	SNP	A	A	G			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr15:41099958A>G	ENST00000355341.4	+	1	672	c.171A>G	c.(169-171)ccA>ccG	p.P57P	ZFYVE19_ENST00000336455.5_Intron|ZFYVE19_ENST00000564258.1_Intron|ZFYVE19_ENST00000299173.10_Silent_p.P57P|ZFYVE19_ENST00000570108.1_Intron|ZFYVE19_ENST00000563530.1_3'UTR|DNAJC17_ENST00000220496.4_5'Flank	NM_001077268.1	NP_001070736.1	Q96K21	ANCHR_HUMAN	zinc finger, FYVE domain containing 19	57					abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis checkpoint (GO:0031565)|negative regulation of cytokinesis (GO:0032466)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|midbody (GO:0030496)	phosphatidylinositol-3-phosphate binding (GO:0032266)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CAAGGGGCCCAGGACTTGGCC	0.677																																						ENST00000355341.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9						c.(169-171)ccA>ccG		zinc finger, FYVE domain containing 19							33.0	43.0	40.0					15																	41099958		2032	4192	6224	SO:0001819	synonymous_variant	84936						zinc ion binding	g.chr15:41099958A>G	AK027746	CCDS42025.1, CCDS58353.1, CCDS58354.1, CCDS58355.1	15q14	2008-05-02				ENSG00000166140		"""Zinc fingers, FYVE domain containing"""	20758	protein-coding gene	gene with protein product							Standard	NM_001077268		Approved	FLJ14840	uc031qrk.1	Q96K21		ENST00000355341.4:c.171A>G	15.37:g.41099958A>G			Somatic				ZFYVE19_ENST00000564258.1_Intron|ZFYVE19_ENST00000299173.10_Silent_p.P57P|ZFYVE19_ENST00000563530.1_3'UTR|ZFYVE19_ENST00000570108.1_Intron|ZFYVE19_ENST00000336455.5_Intron	p.P57P	NM_001077268.1	NP_001070736.1	WXS	Illumina GAIIx	Phase_I	Q96K21	ZFY19_HUMAN		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)	1	672	+		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	57					B3KVB2|C9JNF4|H3BUF9|Q86WC2|Q8WU96	Silent	SNP	ENST00000355341.4	37	c.171A>G	CCDS42025.1																																																																																				0.677	ZFYVE19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418996.1	NM_032850		10	18	0	0	0	1	0	10	18				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A41T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(121-123)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29625877G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr		Somatic				FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T	p.A41T			WXS	Illumina GAIIx	Phase_I					5	501	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.121G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	72	0	0	0	1	0	5	72				
PKHD1L1	93035	broad.mit.edu	37	8	110503272	110503286	+	In_Frame_Del	DEL	ATTTGGGACAGATGG	ATTTGGGACAGATGG	-	rs182303219	byFrequency	TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr8:110503272_110503286delATTTGGGACAGATGG	ENST00000378402.5	+	61	10160_10174	c.10056_10070delATTTGGGACAGATGG	c.(10054-10071)gtatttgggacagatgga>gta	p.FGTDG3353del		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3353					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.D3358H(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAATTGGTGTATTTGGGACAGATGGATTGGACATA	0.381										HNSCC(38;0.096)																												ENST00000378402.5																			1	Substitution - Missense(1)	p.D3358H(1)	upper_aerodigestive_tract(1)	NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(10054-10071)gtatttgggacagatgga>gta		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1																																				SO:0001651	inframe_deletion	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110503272_110503286delATTTGGGACAGATGG	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.10056_10070delATTTGGGACAGATGG	8.37:g.110503272_110503286delATTTGGGACAGATGG	ENSP00000367655:p.Phe3353_Gly3357del	HNSCC(38;0.096)	Somatic					p.FGTDG3353del	NM_177531.4	NP_803875.2	WXS	Illumina GAIIx	Phase_I	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		61	10160_10174	+			3353					Q567P2|Q9UF27	In_Frame_Del	DEL	ENST00000378402.5	37	c.10056_10070delATTTGGGACAGATGG	CCDS47911.1																																																																																				0.381	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		8	62						8	62	---	---	---	---
FRG1B	284802	broad.mit.edu	37	20	29625899	29625900	+	Frame_Shift_Ins	INS	-	-	AT	rs201509828		TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr20:29625899_29625900insAT	ENST00000278882.3	+	5	523_524	c.143_144insAT	c.(142-147)aaatatfs	p.KY48fs	FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.KY48fs|FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.KY53fs			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	48										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTATGGAAAATATCTTGGTA	0.342																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(142-147)aaatatfs																																						SO:0001589	frameshift_variant	0							g.chr20:29625899_29625900insAT			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.146_147dupAT	20.37:g.29625902_29625903dupAT	ENSP00000278882:p.Lys48fs		Somatic				FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.KY48fs|FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.KY53fs	p.KY48fs			WXS	Illumina GAIIx	Phase_I					5	523_524	+								C4AME5	Frame_Shift_Ins	INS	ENST00000278882.3	37	c.143_144insAT																																																																																					0.342	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	109						7	109	---	---	---	---
