#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_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
CCL3L1	6349	genome.wustl.edu	37	17	34624285	34624285	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1FR-01A-11D-A13L-09	TCGA-BH-A1FR-11B-42D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a589f5ac-105c-45d6-96e1-55e3080f999c	045b30c4-c077-4bbd-b538-7fcf73440b94	g.chr17:34624285C>T	ENST00000422211.2	-	3	328	c.256G>A	c.(256-258)Gtc>Atc	p.V86I	TBC1D3C_ENST00000451448.2_Intron|TBC1D3H_ENST00000535446.1_Intron|CCL3L1_ENST00000542124.1_Silent_p.T42T|TBC1D3C_ENST00000308078.7_Intron|TBC1D3H_ENST00000400684.4_Intron	NM_021006.4	NP_066286.1	P16619	CL3L1_HUMAN	chemokine (C-C motif) ligand 3-like 1	86					cell chemotaxis (GO:0060326)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)	extracellular region (GO:0005576)|extracellular space (GO:0005615)							Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGGTCACTGACGTATTTCTGG	0.607																																					Melanoma(126;1609 1709 4232 20599 26249)	dbGAP											0													6.0	4.0	4.0					17																	34624285		1963	3429	5392	-	-	-	SO:0001583	missense	0			X52149		17q12	2006-05-24	2002-08-22	2002-08-23	ENSG00000205021			"""Chemokine ligands"""	10628	protein-coding gene	gene with protein product		601395	"""small inducible cytokine A3-like 1"""	D17S1718, SCYA3L, SCYA3L1		1972563, 1296815	Standard	NM_021006		Approved	G0S19-2, LD78BETA	uc002hlf.2	P16619	OTTHUMG00000132996	ENST00000422211.2:c.256G>A	17.37:g.34624285C>T	ENSP00000408984:p.Val86Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGK6|B2RUX4|Q3B7A8|Q53YA5|Q96I68	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.V86I	ENST00000422211.2	37	c.256	CCDS11310.1	17	.	.	.	.	.	.	.	.	.	.	c	0.373	-0.933083	0.02359	.	.	ENSG00000205021	ENST00000422211	T	0.03860	3.78	3.0	-1.83	0.07833	.	0.832417	0.10256	N	0.696568	T	0.01592	0.0051	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.47018	-0.9149	7	0.02654	T	1	.	6.3968	0.21616	0.0:0.3239:0.0:0.6761	.	.	.	.	I	86	ENSP00000408984:V86I	ENSP00000408984:V86I	V	-	1	0	CCL3L1	31648398	0.000000	0.05858	0.376000	0.26042	0.251000	0.25915	-1.182000	0.03082	-0.098000	0.12285	0.194000	0.17425	GTC	CCL3L1	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	ENSG00000205021		0.607	CCL3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCL3L1	HGNC	protein_coding	OTTHUMT00000256572.1	26	0.00	0	C	NM_021006		34624285	34624285	-1	no_errors	ENST00000422211	ensembl	human	known	69_37n	missense	14	46.15	12	SNP	0.001	T
EP400NL	347918	genome.wustl.edu	37	12	132593193	132593193	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A1FR-01A-11D-A13L-09	TCGA-BH-A1FR-11B-42D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a589f5ac-105c-45d6-96e1-55e3080f999c	045b30c4-c077-4bbd-b538-7fcf73440b94	g.chr12:132593193C>G	ENST00000376625.4	+	2	1387	c.1361C>G	c.(1360-1362)tCt>tGt	p.S454C	EP400NL_ENST00000443539.2_Missense_Mutation_p.S322C|EP400NL_ENST00000392352.1_Missense_Mutation_p.S322C|EP400NL_ENST00000389560.2_Missense_Mutation_p.S385C|EP400NL_ENST00000361109.5_Missense_Mutation_p.S301C			Q6ZTU2	E400N_HUMAN	EP400 N-terminal like	454										endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						CCGAGGACTTCTGCGGCTTTT	0.567																																						dbGAP											0													30.0	32.0	32.0					12																	132593193		692	1591	2283	-	-	-	SO:0001583	missense	0			AK091234		12q24.33	2013-02-15			ENSG00000185684	ENSG00000185684			26602	protein-coding gene	gene with protein product						12477932	Standard	NR_003290		Approved	FLJ33915	uc009zyq.3	Q6ZTU2	OTTHUMG00000168251	ENST00000376625.4:c.1361C>G	12.37:g.132593193C>G	ENSP00000365812:p.Ser454Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLB7|A8K0Z5|B3KQY2|Q6NXP1|Q8N253|Q8N7S7|Q9UFJ3	Missense_Mutation	SNP	NULL	p.S454C	ENST00000376625.4	37	c.1361		12	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532483	0.45073	.	.	ENSG00000185684	ENST00000389560;ENST00000443539;ENST00000392352;ENST00000361109;ENST00000376625	.	.	.	3.2	3.2	0.36748	.	1.528260	0.05267	U	0.516828	T	0.81123	0.4757	.	.	.	0.40486	D	0.980498	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;P;D	0.87578	0.994;0.982;0.871;0.998	T	0.71948	-0.4438	8	0.72032	D	0.01	.	14.7182	0.69286	0.0:1.0:0.0:0.0	.	301;454;322;454	C9JIE5;Q6ZTU2-6;Q6ZTU2-5;Q6ZTU2	.;.;.;E400N_HUMAN	C	385;322;322;301;454	.	ENSP00000328997:S386C	S	+	2	0	EP400NL	131159146	1.000000	0.71417	0.908000	0.35775	0.001000	0.01503	7.095000	0.76952	1.486000	0.48398	0.455000	0.32223	TCT	EP400NL	-	NULL	ENSG00000185684		0.567	EP400NL-202	KNOWN	basic|appris_candidate_longest	protein_coding	EP400NL	HGNC	protein_coding		32	0.00	0	C	NM_182613		132593193	132593193	+1	no_errors	ENST00000376625	ensembl	human	known	69_37n	missense	21	32.26	10	SNP	1.000	G
GOLGA6L2	283685	genome.wustl.edu	37	15	23685200	23685200	+	Missense_Mutation	SNP	C	C	T	rs149818016		TCGA-BH-A1FR-01A-11D-A13L-09	TCGA-BH-A1FR-11B-42D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a589f5ac-105c-45d6-96e1-55e3080f999c	045b30c4-c077-4bbd-b538-7fcf73440b94	g.chr15:23685200C>T	ENST00000567107.1	-	8	2474	c.2422G>A	c.(2422-2424)Gga>Aga	p.G808R	GOLGA6L2_ENST00000312015.5_Intron|GOLGA6L2_ENST00000345070.5_Intron			Q8N9W4	GG6L2_HUMAN	golgin A6 family-like 2	0										breast(1)|endometrium(7)	8						gcatcttctcctcctgctccc	0.597																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AK093463		15q11.2	2012-10-05	2010-02-12		ENSG00000174450	ENSG00000174450			26695	protein-coding gene	gene with protein product	"""cancer/testis antigen 105"""		"""golgi autoantigen, golgin subfamily a, 6-like 2"""				Standard	XM_002343322		Approved	CT105, FLJ36144	uc021sfy.1	Q8N9W4	OTTHUMG00000176417	ENST00000567107.1:c.2422G>A	15.37:g.23685200C>T	ENSP00000454407:p.Gly808Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L301	Missense_Mutation	SNP	NULL	p.G808R	ENST00000567107.1	37	c.2422		15																																																																																			GOLGA6L2	-	NULL	ENSG00000174450		0.597	GOLGA6L2-002	PUTATIVE	basic|appris_candidate_longest	protein_coding	GOLGA6L2	HGNC	protein_coding	OTTHUMT00000431937.1	32	0.00	0	C	NM_182561		23685200	23685200	-1	no_errors	ENST00000567107	ensembl	human	putative	69_37n	missense	151	14.20	25	SNP	0.004	T
GLCE	26035	genome.wustl.edu	37	15	69553426	69553426	+	Splice_Site	SNP	G	G	T			TCGA-BH-A1FR-01A-11D-A13L-09	TCGA-BH-A1FR-11B-42D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a589f5ac-105c-45d6-96e1-55e3080f999c	045b30c4-c077-4bbd-b538-7fcf73440b94	g.chr15:69553426G>T	ENST00000261858.2	+	4	815	c.587G>T	c.(586-588)gGt>gTt	p.G196V	GLCE_ENST00000559500.1_3'UTR|GLCE_ENST00000559420.2_Splice_Site_p.G132V	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	196					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						TATTTTATAGGTGTGCCATTA	0.373																																						dbGAP											0													73.0	70.0	71.0					15																	69553426		2200	4298	6498	-	-	-	SO:0001630	splice_region_variant	0			AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"""heparan sulfate epimerase"""	612134	"""D-glucuronyl C5-epimerase"", ""UDP-glucuronic acid epimerase"""			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.587-1G>T	15.37:g.69553426G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6GUQ2	Missense_Mutation	SNP	pfam_C5-epim	p.G196V	ENST00000261858.2	37	c.587	CCDS32277.1	15	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078068	0.76528	.	.	ENSG00000138604	ENST00000261858	T	0.44482	0.92	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.68467	0.3004	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.70392	-0.4884	9	.	.	.	.	18.4461	0.90685	0.0:0.0:1.0:0.0	.	196	O94923	GLCE_HUMAN	V	196	ENSP00000261858:G196V	.	G	+	2	0	GLCE	67340480	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	9.719000	0.98760	2.693000	0.91896	0.585000	0.79938	GGT	GLCE	-	NULL	ENSG00000138604		0.373	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GLCE	HGNC	protein_coding		26	0.00	0	G	NM_015554	Missense_Mutation	69553426	69553426	+1	no_errors	ENST00000261858	ensembl	human	known	69_37n	missense	40	27.27	15	SNP	1.000	T
HIPK4	147746	genome.wustl.edu	37	19	40889792	40889792	+	Silent	SNP	G	G	A			TCGA-BH-A1FR-01A-11D-A13L-09	TCGA-BH-A1FR-11B-42D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a589f5ac-105c-45d6-96e1-55e3080f999c	045b30c4-c077-4bbd-b538-7fcf73440b94	g.chr19:40889792G>A	ENST00000291823.2	-	2	1004	c.720C>T	c.(718-720)caC>caT	p.H240H		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	240	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			TGCAGGCGGCGTGCAACAGGT	0.647																																						dbGAP											0													71.0	71.0	71.0					19																	40889792		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.720C>T	19.37:g.40889792G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K863|Q96M54	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.H240	ENST00000291823.2	37	c.720	CCDS12555.1	19																																																																																			HIPK4	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000160396		0.647	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIPK4	HGNC	protein_coding	OTTHUMT00000462593.1	79	0.00	0	G	NM_144685		40889792	40889792	-1	no_errors	ENST00000291823	ensembl	human	known	69_37n	silent	43	36.76	25	SNP	0.098	A
IDH1	3417	genome.wustl.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-BH-A1FR-01A-11D-A13L-09	TCGA-BH-A1FR-11B-42D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a589f5ac-105c-45d6-96e1-55e3080f999c	045b30c4-c077-4bbd-b538-7fcf73440b94	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	dbGAP		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	679	Substitution - Missense(678)|Complex - compound substitution(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)											81.0	74.0	76.0					2																	209113113		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP_euk-typ,tigrfam_Isocitrate_DH_NADP_euk-typ	p.R132C	ENST00000415913.1	37	c.394	CCDS2381.1	2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT	IDH1	-	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP_euk-typ,tigrfam_Isocitrate_DH_NADP_euk-typ	ENSG00000138413		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IDH1	HGNC	protein_coding	OTTHUMT00000336672.1	50	0.00	0	G			209113113	209113113	-1	no_errors	ENST00000345146	ensembl	human	known	69_37n	missense	48	28.57	20	SNP	1.000	A
POSTN	10631	genome.wustl.edu	37	13	38154780	38154780	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1FR-01A-11D-A13L-09	TCGA-BH-A1FR-11B-42D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a589f5ac-105c-45d6-96e1-55e3080f999c	045b30c4-c077-4bbd-b538-7fcf73440b94	g.chr13:38154780C>T	ENST00000379747.4	-	11	1564	c.1447G>A	c.(1447-1449)Ggt>Agt	p.G483S	POSTN_ENST00000541481.1_Missense_Mutation_p.G483S|POSTN_ENST00000379743.4_Missense_Mutation_p.G483S|POSTN_ENST00000541179.1_Missense_Mutation_p.G483S|POSTN_ENST00000379749.4_Missense_Mutation_p.G483S|POSTN_ENST00000379742.4_Missense_Mutation_p.G483S	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	483	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)	p.G483C(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TGAATCGCACCGTTTCTCCCT	0.433																																						dbGAP											1	Substitution - Missense(1)	lung(1)											291.0	267.0	275.0					13																	38154780		2203	4300	6503	-	-	-	SO:0001583	missense	0			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.1447G>A	13.37:g.38154780C>T	ENSP00000369071:p.Gly483Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain	p.G483S	ENST00000379747.4	37	c.1447	CCDS9364.1	13	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099349	0.56183	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	D;D;D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41;-3.41;-3.41	5.03	5.03	0.67393	FAS1 domain (6);	0.000000	0.85682	D	0.000000	D	0.95887	0.8661	L	0.60904	1.88	0.52501	D	0.999956	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.988;1.0;1.0;0.999;0.988	D;D;P;D;D;P;P	0.97110	1.0;1.0;0.832;1.0;0.998;0.88;0.832	D	0.95317	0.8417	10	0.42905	T	0.14	-13.0064	18.7184	0.91685	0.0:1.0:0.0:0.0	.	483;483;483;483;483;483;483	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	S	483	ENSP00000437959:G483S;ENSP00000369073:G483S;ENSP00000369071:G483S;ENSP00000369067:G483S;ENSP00000369066:G483S;ENSP00000437953:G483S	ENSP00000369066:G483S	G	-	1	0	POSTN	37052780	1.000000	0.71417	0.953000	0.39169	0.102000	0.19082	4.386000	0.59620	2.477000	0.83638	0.563000	0.77884	GGT	POSTN	-	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain	ENSG00000133110		0.433	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POSTN	HGNC	protein_coding	OTTHUMT00000044566.2	169	0.00	0	C	NM_006475		38154780	38154780	-1	no_errors	ENST00000379747	ensembl	human	known	69_37n	missense	268	24.08	85	SNP	1.000	T
RNA5-8SP6	100873336	genome.wustl.edu	37	Y	10037843	10037843	+	RNA	SNP	C	C	T			TCGA-BH-A1FR-01A-11D-A13L-09	TCGA-BH-A1FR-11B-42D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a589f5ac-105c-45d6-96e1-55e3080f999c	045b30c4-c077-4bbd-b538-7fcf73440b94	g.chrY:10037843C>T	ENST00000515896.1	+	0	80									RNA, 5.8S ribosomal pseudogene 6																		AATTGCAGGACACATTGATCA	0.512																																						dbGAP											0																																										-	-	-			0					Yp11.2	2012-08-07	2012-08-07	2012-08-07	ENSG00000251705	ENSG00000251705			41960	pseudogene	RNA, pseudogene			"""RNA, 5.8S ribosomal 6"""	RN5-8S6			Standard	NG_033474		Approved						Y.37:g.10037843C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000515896.1	37	NULL		Y																																																																																			RNA5-8SP6	-	-	ENSG00000251705		0.512	RNA5-8SP6-201	KNOWN	basic	rRNA	RNA5-8SP6	HGNC	rRNA		25	0.00	0	C			10037843	10037843	+1	no_errors	ENST00000515896	ensembl	human	known	69_37n	rna	22	18.52	5	SNP	1.000	T
CAPN15	6650	genome.wustl.edu	37	16	602903	602903	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A1FR-01A-11D-A13L-09	TCGA-BH-A1FR-11B-42D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a589f5ac-105c-45d6-96e1-55e3080f999c	045b30c4-c077-4bbd-b538-7fcf73440b94	g.chr16:602903G>T	ENST00000219611.2	+	13	3308	c.2945G>T	c.(2944-2946)tGg>tTg	p.W982L	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	982					proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										ACACACGGTTGGGCGGGGCTC	0.652																																						dbGAP											0													78.0	72.0	74.0					16																	602903		2198	4295	6493	-	-	-	SO:0001583	missense	0			U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"""small optic lobes (Drosophila) homolog"", ""small optic lobes homolog (Drosophila)"""	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.2945G>T	16.37:g.602903G>T	ENSP00000219611:p.Trp982Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.W982L	ENST00000219611.2	37	c.2945	CCDS10410.1	16	.	.	.	.	.	.	.	.	.	.	g	22.5	4.304455	0.81136	.	.	ENSG00000103326	ENST00000219611	D	0.88664	-2.41	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.94062	0.8097	M	0.72118	2.19	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.94325	0.7557	10	0.87932	D	0	.	18.213	0.89877	0.0:0.0:1.0:0.0	.	982	O75808	CAN15_HUMAN	L	982	ENSP00000219611:W982L	ENSP00000219611:W982L	W	+	2	0	SOLH	542904	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.404000	0.97306	2.720000	0.93068	0.556000	0.70494	TGG	SOLH	-	NULL	ENSG00000103326		0.652	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOLH	HGNC	protein_coding	OTTHUMT00000239271.1	14	0.00	0	G	NM_005632		602903	602903	+1	no_errors	ENST00000219611	ensembl	human	known	69_37n	missense	13	38.10	8	SNP	1.000	T
SSTR3	6753	genome.wustl.edu	37	22	37603605	37603605	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A1FR-01A-11D-A13L-09	TCGA-BH-A1FR-11B-42D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a589f5ac-105c-45d6-96e1-55e3080f999c	045b30c4-c077-4bbd-b538-7fcf73440b94	g.chr22:37603605T>A	ENST00000328544.3	-	2	771	c.238A>T	c.(238-240)Aac>Tac	p.N80Y	SSTR3_ENST00000402501.1_Missense_Mutation_p.N80Y	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	80					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	ATGTAGACGTTGGTGACTGAA	0.647																																						dbGAP											0													82.0	77.0	79.0					22																	37603605		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"""GPCR / Class A : Somatostatin receptors"""	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.238A>T	22.37:g.37603605T>A	ENSP00000330138:p.Asn80Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K550|Q53ZR7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_Somatstn_rcpt_3,prints_7TM_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Somatstn_rcpt_5,prints_Neuropept_W_rcpt	p.N80Y	ENST00000328544.3	37	c.238	CCDS13944.1	22	.	.	.	.	.	.	.	.	.	.	T	18.86	3.713013	0.68730	.	.	ENSG00000183473	ENST00000328544;ENST00000402501	T;T	0.37058	1.22;1.22	5.61	5.61	0.85477	GPCR, rhodopsin-like superfamily (1);	0.161221	0.53938	D	0.000057	T	0.59622	0.2207	H	0.94658	3.565	0.51012	D	0.999905	B	0.29341	0.242	B	0.42916	0.402	T	0.66760	-0.5842	10	0.87932	D	0	.	10.196	0.43054	0.0:0.0743:0.0:0.9257	.	80	P32745	SSR3_HUMAN	Y	80	ENSP00000330138:N80Y;ENSP00000384904:N80Y	ENSP00000330138:N80Y	N	-	1	0	SSTR3	35933551	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	6.292000	0.72725	2.138000	0.66242	0.455000	0.32223	AAC	SSTR3	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000183473		0.647	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR3	HGNC	protein_coding	OTTHUMT00000318802.1	24	0.00	0	T			37603605	37603605	-1	no_errors	ENST00000328544	ensembl	human	known	69_37n	missense	27	43.75	21	SNP	1.000	A
SULT1C2	6819	genome.wustl.edu	37	2	108921678	108921678	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1FR-01A-11D-A13L-09	TCGA-BH-A1FR-11B-42D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a589f5ac-105c-45d6-96e1-55e3080f999c	045b30c4-c077-4bbd-b538-7fcf73440b94	g.chr2:108921678G>A	ENST00000437390.2	+	6	772	c.595G>A	c.(595-597)Gac>Aac	p.D199N	SULT1C2_ENST00000326853.5_Missense_Mutation_p.D196N|SULT1C2_ENST00000251481.6_Missense_Mutation_p.D185N|SULT1C2_ENST00000409880.1_Missense_Mutation_p.D148N			O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	191					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GGAGATGAAAGACAGACACCA	0.443																																						dbGAP											0													224.0	210.0	215.0					2																	108921678		2203	4300	6503	-	-	-	SO:0001583	missense	0			U66036, AF186255	CCDS2075.1, CCDS2076.1	2q12.3	2010-09-30	2007-03-16	2007-03-16	ENSG00000198203	ENSG00000198203		"""Sulfotransferases, cytosolic"""	11456	protein-coding gene	gene with protein product		602385	"""sulfotransferase family, cytosolic, 1C, member 1"""	SULT1C1		9169148, 10783263	Standard	NM_001056		Approved	ST1C1	uc002tdx.3	O00338	OTTHUMG00000153215	ENST00000437390.2:c.595G>A	2.37:g.108921678G>A	ENSP00000399651:p.Asp199Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q069I8|Q08AS5|Q53S63	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.D196N	ENST00000437390.2	37	c.586		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.52|14.52	2.559918|2.559918	0.45590|0.45590	.|.	.|.	ENSG00000198203|ENSG00000198203	ENST00000251481;ENST00000326853;ENST00000409880;ENST00000437390|ENST00000409067	T;T;T;T|.	0.01804|.	4.63;4.63;4.63;4.63|.	4.64|4.64	3.75|3.75	0.43078|0.43078	Sulfotransferase domain (1);|.	0.249853|.	0.32987|.	N|.	0.005405|.	T|T	0.63236|0.63236	0.2494|0.2494	L|L	0.53249|0.53249	1.67|1.67	0.41149|0.41149	D|D	0.986017|0.986017	B;B;B;B|.	0.18310|.	0.001;0.027;0.002;0.011|.	B;B;B;B|.	0.28465|.	0.09;0.01;0.054;0.078|.	T|T	0.62642|0.62642	-0.6811|-0.6811	10|5	0.24483|.	T|.	0.36|.	.|.	14.2938|14.2938	0.66298|0.66298	0.0:0.2813:0.7187:0.0|0.0:0.2813:0.7187:0.0	.|.	199;100;185;196|.	B4DLP0;B4DPE8;O00338;O00338-2|.	.;.;ST1C2_HUMAN;.|.	N|K	185;196;148;199|181	ENSP00000251481:D185N;ENSP00000319622:D196N;ENSP00000387054:D148N;ENSP00000399651:D199N|.	ENSP00000251481:D185N|.	D|R	+|+	1|2	0|0	SULT1C2|SULT1C2	108288110|108288110	0.000000|0.000000	0.05858|0.05858	0.015000|0.015000	0.15790|0.15790	0.983000|0.983000	0.72400|0.72400	0.112000|0.112000	0.15479|0.15479	1.281000|1.281000	0.44480|0.44480	0.561000|0.561000	0.74099|0.74099	GAC|AGA	SULT1C2	-	pfam_Sulfotransferase_dom	ENSG00000198203		0.443	SULT1C2-007	NOVEL	basic|exp_conf	protein_coding	SULT1C2	HGNC	protein_coding	OTTHUMT00000329969.2	157	0.00	0	G	NM_176825		108921678	108921678	+1	no_errors	ENST00000326853	ensembl	human	known	69_37n	missense	229	31.75	107	SNP	0.934	A
VPS52	6293	genome.wustl.edu	37	6	33231274	33231274	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A1FR-01A-11D-A13L-09	TCGA-BH-A1FR-11B-42D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a589f5ac-105c-45d6-96e1-55e3080f999c	045b30c4-c077-4bbd-b538-7fcf73440b94	g.chr6:33231274T>C	ENST00000445902.2	-	17	1999	c.1781A>G	c.(1780-1782)aAt>aGt	p.N594S	VPS52_ENST00000436044.2_Missense_Mutation_p.N469S|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	594					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TGTCCGAGCATTGAGCAGCTG	0.522																																						dbGAP											0													139.0	117.0	124.0					6																	33231274		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.1781A>G	6.37:g.33231274T>C	ENSP00000409952:p.Asn594Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Missense_Mutation	SNP	pfam_Vps52,pfam_Exocyst_Exoc1	p.N594S	ENST00000445902.2	37	c.1781	CCDS4770.2	6	.	.	.	.	.	.	.	.	.	.	T	11.31	1.600201	0.28534	.	.	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	5.02	5.02	0.67125	.	0.178524	0.50627	D	0.000105	T	0.19046	0.0457	N	0.25647	0.755	0.32989	D	0.524665	B;B	0.32862	0.387;0.044	B;B	0.39068	0.289;0.046	T	0.10314	-1.0635	9	0.15952	T	0.53	-20.1875	9.1629	0.37035	0.0:0.0:0.1836:0.8164	.	405;594	B3KMF7;Q8N1B4	.;VPS52_HUMAN	S	594;572;469	.	ENSP00000414785:N572S	N	-	2	0	VPS52	33339252	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.822000	0.55708	2.243000	0.73865	0.467000	0.42956	AAT	VPS52	-	pfam_Vps52	ENSG00000223501		0.522	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS52	HGNC	protein_coding	OTTHUMT00000076598.2	100	0.00	0	T	NM_022553		33231274	33231274	-1	no_errors	ENST00000445902	ensembl	human	known	69_37n	missense	72	36.28	41	SNP	1.000	C
VWF	7450	genome.wustl.edu	37	12	6167090	6167090	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1FR-01A-11D-A13L-09	TCGA-BH-A1FR-11B-42D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a589f5ac-105c-45d6-96e1-55e3080f999c	045b30c4-c077-4bbd-b538-7fcf73440b94	g.chr12:6167090C>T	ENST00000261405.5	-	14	1908	c.1654G>A	c.(1654-1656)Gcc>Acc	p.A552T		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	552	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGCTTCCAGGCGTTCCCGAAG	0.652																																						dbGAP											0													64.0	65.0	65.0					12																	6167090		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.1654G>A	12.37:g.6167090C>T	ENSP00000261405:p.Ala552Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TCE8|Q99806	Missense_Mutation	SNP	pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.A552T	ENST00000261405.5	37	c.1654	CCDS8539.1	12	.	.	.	.	.	.	.	.	.	.	C	8.090	0.774265	0.16051	.	.	ENSG00000110799	ENST00000261405	T	0.35973	1.28	4.94	-2.22	0.06952	von Willebrand factor, type D domain (1);	0.588914	0.14219	N	0.333531	T	0.18923	0.0454	L	0.37466	1.105	0.25105	N	0.990753	P;P	0.47350	0.894;0.858	B;B	0.32864	0.154;0.146	T	0.34304	-0.9834	10	0.16420	T	0.52	.	11.6131	0.51072	0.7522:0.1751:0.0:0.0727	.	552;552	B4DNX0;P04275	.;VWF_HUMAN	T	552	ENSP00000261405:A552T	ENSP00000261405:A552T	A	-	1	0	VWF	6037351	0.001000	0.12720	0.942000	0.38095	0.009000	0.06853	-0.842000	0.04354	-0.041000	0.13558	0.491000	0.48974	GCC	VWF	-	pirsf_VWF	ENSG00000110799		0.652	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	12	0.00	0	C	NM_000552		6167090	6167090	-1	no_errors	ENST00000261405	ensembl	human	known	69_37n	missense	7	36.36	4	SNP	0.143	T
ZNF24	7572	genome.wustl.edu	37	18	32919834	32919834	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A1FR-01A-11D-A13L-09	TCGA-BH-A1FR-11B-42D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a589f5ac-105c-45d6-96e1-55e3080f999c	045b30c4-c077-4bbd-b538-7fcf73440b94	g.chr18:32919834A>C	ENST00000261332.6	-	3	706	c.527T>G	c.(526-528)cTc>cGc	p.L176R	ZNF24_ENST00000589881.1_Missense_Mutation_p.L176R|ZNF24_ENST00000399061.3_Missense_Mutation_p.L176R	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	176					myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						TGCCCACTTGAGCTGGTTCTC	0.502																																					Colon(42;769 913 8916 19469 46270)	dbGAP											0													121.0	114.0	116.0					18																	32919834		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF016052	CCDS11912.1	18q12	2013-01-09	2006-05-10		ENSG00000172466	ENSG00000172466		"""-"", ""Zinc fingers, C2H2-type"""	13032	protein-coding gene	gene with protein product		194534	"""zinc finger protein 24 (KOX 17)"""	ZNF191			Standard	NM_006965		Approved	ZSCAN3, Zfp191, KOX17	uc002kys.2	P17028	OTTHUMG00000132565	ENST00000261332.6:c.527T>G	18.37:g.32919834A>C	ENSP00000261332:p.Leu176Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	O14754|Q53YE4|Q6ICR5|Q8IZN4	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.L176R	ENST00000261332.6	37	c.527	CCDS11912.1	18	.	.	.	.	.	.	.	.	.	.	A	16.92	3.256047	0.59321	.	.	ENSG00000172466	ENST00000261332;ENST00000399061	T;T	0.05649	3.41;3.41	5.22	5.22	0.72569	.	0.000000	0.50627	D	0.000110	T	0.14743	0.0356	L	0.39898	1.24	0.39164	D	0.962467	D;D	0.65815	0.995;0.992	D;P	0.74023	0.982;0.879	T	0.10222	-1.0639	10	0.25106	T	0.35	.	11.6948	0.51538	1.0:0.0:0.0:0.0	.	176;176	P17028-2;P17028	.;ZNF24_HUMAN	R	176	ENSP00000261332:L176R;ENSP00000382015:L176R	ENSP00000261332:L176R	L	-	2	0	ZNF24	31173832	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.877000	0.48506	2.333000	0.79357	0.533000	0.62120	CTC	ZNF24	-	NULL	ENSG00000172466		0.502	ZNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF24	HGNC	protein_coding	OTTHUMT00000255769.1	61	0.00	0	A	NM_006965		32919834	32919834	-1	no_errors	ENST00000261332	ensembl	human	known	69_37n	missense	35	44.44	28	SNP	1.000	C
