#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_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	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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	i_deletion_substructures	i_domain	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	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
AACSP1	729522	genome.wustl.edu	37	5	178203190	178203190	+	RNA	SNP	C	C	G			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr5:178203190C>G	ENST00000503486.2	-	0	734					NR_024035.1				acetoacetyl-CoA synthetase pseudogene 1																		TGGCCATCATCAAAAGCGCAT	0.527																																																	0																																												729522					5q35	2010-09-29	2010-09-29	2010-09-29	ENSG00000250420	ENSG00000250420			18226	pseudogene	pseudogene			"""acetoacetyl-CoA synthetase-like"""	AACSL			Standard	NR_024035		Approved		uc011dgl.2		OTTHUMG00000163584		5.37:g.178203190C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000503486.2	37	NULL		5																																																																																			AACSP1	-	-		0.527	AACSP1-002	KNOWN	basic	processed_transcript	AACSP1	HGNC	pseudogene	OTTHUMT00000374392.2	C	NR_024035		178203190	-1	no_errors	ENST00000503486	ensembl	human	known	70_37	rna	SNP	0.001	G
ABCA1	19	genome.wustl.edu	37	9	107550317	107550317	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr9:107550317G>A	ENST00000374736.3	-	46	6482	c.6088C>T	c.(6088-6090)Cgg>Tgg	p.R2030W		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2030	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CCCAGTTTCCGAATCGCCCAC	0.468																																																	0													158.0	143.0	148.0					9																	107550317		2203	4300	6503	SO:0001583	missense	19			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.6088C>T	9.37:g.107550317G>A	ENSP00000363868:p.Arg2030Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R2030W	ENST00000374736.3	37	c.6088	CCDS6762.1	9	.	.	.	.	.	.	.	.	.	.	G	24.4	4.527709	0.85706	.	.	ENSG00000165029	ENST00000374736	D	0.94046	-3.34	5.84	4.94	0.65067	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.106558	0.64402	N	0.000003	D	0.96027	0.8706	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	D	0.96440	0.9326	10	0.72032	D	0.01	.	15.1914	0.73047	0.0676:0.0:0.9324:0.0	.	2030	O95477	ABCA1_HUMAN	W	2030	ENSP00000363868:R2030W	ENSP00000363868:R2030W	R	-	1	2	ABCA1	106590138	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.764000	0.68826	1.612000	0.50221	0.650000	0.86243	CGG	ABCA1	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.468	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA1	HGNC	protein_coding	OTTHUMT00000053491.1	G	NM_005502		107550317	-1	no_errors	ENST00000374736	ensembl	human	known	70_37	missense	SNP	1.000	A
ABCA1	19	genome.wustl.edu	37	9	107550317	107550317	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr9:107550317G>A	ENST00000374736.3	-	46	6482	c.6088C>T	c.(6088-6090)Cgg>Tgg	p.R2030W		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2030	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CCCAGTTTCCGAATCGCCCAC	0.468																																																	0													158.0	143.0	148.0					9																	107550317		2203	4300	6503	SO:0001583	missense	19			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.6088C>T	9.37:g.107550317G>A	ENSP00000363868:p.Arg2030Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R2030W	ENST00000374736.3	37	c.6088	CCDS6762.1	9	.	.	.	.	.	.	.	.	.	.	G	24.4	4.527709	0.85706	.	.	ENSG00000165029	ENST00000374736	D	0.94046	-3.34	5.84	4.94	0.65067	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.106558	0.64402	N	0.000003	D	0.96027	0.8706	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	D	0.96440	0.9326	10	0.72032	D	0.01	.	15.1914	0.73047	0.0676:0.0:0.9324:0.0	.	2030	O95477	ABCA1_HUMAN	W	2030	ENSP00000363868:R2030W	ENSP00000363868:R2030W	R	-	1	2	ABCA1	106590138	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.764000	0.68826	1.612000	0.50221	0.650000	0.86243	CGG	ABCA1	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.468	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA1	HGNC	protein_coding	OTTHUMT00000053491.1	G	NM_005502		107550317	-1	no_errors	ENST00000374736	ensembl	human	known	70_37	missense	SNP	1.000	A
ABCD1	215	genome.wustl.edu	37	X	152991452	152991452	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chrX:152991452C>T	ENST00000218104.3	+	1	1130	c.731C>T	c.(730-732)tCg>tTg	p.S244L	BCAP31_ENST00000458587.2_5'Flank|BCAP31_ENST00000345046.6_5'Flank|BCAP31_ENST00000441714.1_5'Flank|ABCD1_ENST00000370129.4_Missense_Mutation_p.S59L	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	244	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCTGGCCCTCGGCCATCGCC	0.697																																																	0													25.0	26.0	26.0					X																	152991452		2200	4295	6495	SO:0001583	missense	215			Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"""ATP binding cassette transporters / subfamily D"""	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.731C>T	X.37:g.152991452C>T	ENSP00000218104:p.Ser244Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6GTZ2	Missense_Mutation	SNP	pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter	p.S244L	ENST00000218104.3	37	c.731	CCDS14728.1	X	.	.	.	.	.	.	.	.	.	.	C	1.236	-0.622720	0.03636	.	.	ENSG00000101986	ENST00000218104;ENST00000370129	D;D	0.94184	-3.37;-3.37	5.37	4.51	0.55191	ABC transporter, N-terminal (1);ABC transporter, integral membrane type 1 (1);	0.070450	0.64402	D	0.000018	D	0.83755	0.5323	N	0.05414	-0.055	0.51233	D	0.999911	B	0.25441	0.126	B	0.29176	0.099	T	0.76796	-0.2827	10	0.07990	T	0.79	-15.2968	11.9928	0.53184	0.0:0.9128:0.0:0.0872	.	244	P33897	ABCD1_HUMAN	L	244;59	ENSP00000218104:S244L;ENSP00000359147:S59L	ENSP00000218104:S244L	S	+	2	0	ABCD1	152644646	0.930000	0.31532	0.990000	0.47175	0.103000	0.19146	4.680000	0.61656	1.046000	0.40249	0.529000	0.55759	TCG	ABCD1	-	pfam_ABC_Ald_N,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_FA_transporter		0.697	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD1	HGNC	protein_coding	OTTHUMT00000061041.1	C	NM_000033		152991452	+1	no_errors	ENST00000218104	ensembl	human	known	70_37	missense	SNP	0.952	T
ADAMTS20	80070	genome.wustl.edu	37	12	43945017	43945017	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr12:43945017C>T	ENST00000389420.3	-	2	147	c.148G>A	c.(148-150)Gag>Aag	p.E50K	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.E50K	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	50					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCTCCAAACTCATTGACCCGC	0.592																																																	0													81.0	72.0	75.0					12																	43945017		2203	4300	6503	SO:0001583	missense	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.148G>A	12.37:g.43945017C>T	ENSP00000374071:p.Glu50Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNC9|J3QT00	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.E50K	ENST00000389420.3	37	c.148	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842099	0.91197	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.06068	3.35;3.35	3.23	3.23	0.37069	Peptidase M12B, propeptide (1);	0.000000	0.34652	N	0.003798	T	0.16981	0.0408	L	0.59436	1.845	0.80722	D	1	P	0.51933	0.949	P	0.58620	0.842	T	0.02167	-1.1202	10	0.44086	T	0.13	.	15.3402	0.74290	0.0:1.0:0.0:0.0	.	50	P59510	ATS20_HUMAN	K	50	ENSP00000374071:E50K;ENSP00000448341:E50K	ENSP00000374068:E50K	E	-	1	0	ADAMTS20	42231284	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.122000	0.77169	2.105000	0.64084	0.655000	0.94253	GAG	ADAMTS20	-	pfam_Peptidase_M12B_N		0.592	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	C	NM_025003		43945017	-1	no_errors	ENST00000389420	ensembl	human	known	70_37	missense	SNP	1.000	T
ADAMTS20	80070	genome.wustl.edu	37	12	43945017	43945017	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr12:43945017C>T	ENST00000389420.3	-	2	147	c.148G>A	c.(148-150)Gag>Aag	p.E50K	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.E50K	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	50					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCTCCAAACTCATTGACCCGC	0.592																																																	0													81.0	72.0	75.0					12																	43945017		2203	4300	6503	SO:0001583	missense	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.148G>A	12.37:g.43945017C>T	ENSP00000374071:p.Glu50Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNC9|J3QT00	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.E50K	ENST00000389420.3	37	c.148	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842099	0.91197	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.06068	3.35;3.35	3.23	3.23	0.37069	Peptidase M12B, propeptide (1);	0.000000	0.34652	N	0.003798	T	0.16981	0.0408	L	0.59436	1.845	0.80722	D	1	P	0.51933	0.949	P	0.58620	0.842	T	0.02167	-1.1202	10	0.44086	T	0.13	.	15.3402	0.74290	0.0:1.0:0.0:0.0	.	50	P59510	ATS20_HUMAN	K	50	ENSP00000374071:E50K;ENSP00000448341:E50K	ENSP00000374068:E50K	E	-	1	0	ADAMTS20	42231284	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.122000	0.77169	2.105000	0.64084	0.655000	0.94253	GAG	ADAMTS20	-	pfam_Peptidase_M12B_N		0.592	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	C	NM_025003		43945017	-1	no_errors	ENST00000389420	ensembl	human	known	70_37	missense	SNP	1.000	T
ADCK1	57143	genome.wustl.edu	37	14	78366917	78366917	+	Intron	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr14:78366917G>T	ENST00000238561.5	+	6	840				ADCK1_ENST00000341211.5_Intron	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1							extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		gcaacagagcgagactgcgtc	0.527																																																	0																																										SO:0001627	intron_variant	57143			AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.741+1316G>T	14.37:g.78366917G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KUD5|Q6PD65|Q9UIE6	Nonsense_Mutation	SNP	pfam_UbiB_dom	p.E200*	ENST00000238561.5	37	c.598	CCDS9869.1	14																																																																																			ADCK1	-	NULL		0.527	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK1	HGNC	protein_coding	OTTHUMT00000413864.1	G	NM_020421		78366917	+1	no_errors	ENST00000393639	ensembl	human	known	70_37	nonsense	SNP	0.009	T
AFF3	3899	genome.wustl.edu	37	2	100728975	100728975	+	Intron	SNP	G	G	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr2:100728975G>A	ENST00000317233.4	-	2	92				AFF3_ENST00000483600.1_5'UTR	NM_002285.2	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						gcgacatggtgagaccctgtc	0.522																																																	0																																										SO:0001627	intron_variant	3899			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000317233.4:c.144-6930C>T	2.37:g.100728975G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	RNA	SNP	-	NULL	ENST00000317233.4	37	NULL	CCDS42723.1	2																																																																																			AFF3	-	-		0.522	AFF3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding		G	NM_002285		100728975	-1	no_errors	ENST00000483600	ensembl	human	known	70_37	rna	SNP	0.003	A
ALDH3B2	222	genome.wustl.edu	37	11	67438577	67438577	+	Intron	SNP	C	C	T	rs111820481		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:67438577C>T	ENST00000349015.3	-	1	195				ALDH3B2_ENST00000530069.1_Intron|ALDH3B2_ENST00000531881.1_5'UTR	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2						alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						TGACCGCCTCCGGCCTGAATC	0.607																																																	0																																										SO:0001627	intron_variant	222			U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"""Aldehyde dehydrogenases"""	411	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 8"", ""acetaldehyde dehydrogenase 8"""	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.243+3330G>A	11.37:g.67438577C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53Y98|Q8NAL5|Q96IB2	RNA	SNP	-	NULL	ENST00000349015.3	37	NULL	CCDS31622.1	11																																																																																			ALDH3B2	-	-		0.607	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH3B2	HGNC	protein_coding	OTTHUMT00000394004.1	C	NM_000695		67438577	-1	no_errors	ENST00000531881	ensembl	human	known	70_37	rna	SNP	0.002	T
ALS2CL	259173	genome.wustl.edu	37	3	46722730	46722730	+	Intron	SNP	G	G	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr3:46722730G>A	ENST00000318962.4	-	13	1520				ALS2CL_ENST00000415953.1_Intron	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like						endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GCTGCAGGGCGCTCACCTGTC	0.652																																																	0													86.0	93.0	91.0					3																	46722730		2203	4299	6502	SO:0001627	intron_variant	259173			AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.1436+5C>T	3.37:g.46722730G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	pfam_MORN,superfamily_DH-domain,smart_MORN	p.R473C	ENST00000318962.4	37	c.1417	CCDS2743.1	3																																																																																			ALS2CL	-	NULL		0.652	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2CL	HGNC	protein_coding	OTTHUMT00000250567.3	G	NM_147129		46722730	-1	no_errors	ENST00000431015	ensembl	human	known	70_37	missense	SNP	0.009	A
ANKRD30A	91074	genome.wustl.edu	37	10	37508313	37508313	+	Missense_Mutation	SNP	A	A	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr10:37508313A>T	ENST00000602533.1	+	34	3604	c.3505A>T	c.(3505-3507)Att>Ttt	p.I1169F	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.I1288F|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.I1169F			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1225					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGCTTTCCACATTGCAGGAGA	0.398																																																	0													68.0	63.0	65.0					10																	37508313		1871	4106	5977	SO:0001583	missense	91074			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3505A>T	10.37:g.37508313A>T	ENSP00000473551:p.Ile1169Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5W025	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.I1169F	ENST00000602533.1	37	c.3505		10	.	.	.	.	.	.	.	.	.	.	a	2.739	-0.262614	0.05754	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.13538	2.58;2.58	2.91	-1.15	0.09709	.	.	.	.	.	T	0.05868	0.0153	N	0.08118	0	0.09310	N	1	B	0.19200	0.034	B	0.11329	0.006	T	0.36114	-0.9761	9	0.56958	D	0.05	.	3.8322	0.08879	0.5565:0.1921:0.2515:0.0	.	1225	Q9BXX3	AN30A_HUMAN	F	1169;1288	ENSP00000354432:I1169F;ENSP00000363792:I1288F	ENSP00000354432:I1169F	I	+	1	0	ANKRD30A	37548319	0.998000	0.40836	0.042000	0.18584	0.000000	0.00434	0.587000	0.23909	0.237000	0.21200	-0.661000	0.03856	ATT	ANKRD30A	-	NULL		0.398	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	ANKRD30A	HGNC	protein_coding	OTTHUMT00000047588.2	A	NM_052997		37508313	+1	no_errors	ENST00000361713	ensembl	human	known	70_37	missense	SNP	0.387	T
ANKRD30A	91074	genome.wustl.edu	37	10	37508313	37508313	+	Missense_Mutation	SNP	A	A	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr10:37508313A>T	ENST00000602533.1	+	34	3604	c.3505A>T	c.(3505-3507)Att>Ttt	p.I1169F	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.I1288F|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.I1169F			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1225					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGCTTTCCACATTGCAGGAGA	0.398																																																	0													68.0	63.0	65.0					10																	37508313		1871	4106	5977	SO:0001583	missense	91074			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3505A>T	10.37:g.37508313A>T	ENSP00000473551:p.Ile1169Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5W025	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.I1169F	ENST00000602533.1	37	c.3505		10	.	.	.	.	.	.	.	.	.	.	a	2.739	-0.262614	0.05754	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.13538	2.58;2.58	2.91	-1.15	0.09709	.	.	.	.	.	T	0.05868	0.0153	N	0.08118	0	0.09310	N	1	B	0.19200	0.034	B	0.11329	0.006	T	0.36114	-0.9761	9	0.56958	D	0.05	.	3.8322	0.08879	0.5565:0.1921:0.2515:0.0	.	1225	Q9BXX3	AN30A_HUMAN	F	1169;1288	ENSP00000354432:I1169F;ENSP00000363792:I1288F	ENSP00000354432:I1169F	I	+	1	0	ANKRD30A	37548319	0.998000	0.40836	0.042000	0.18584	0.000000	0.00434	0.587000	0.23909	0.237000	0.21200	-0.661000	0.03856	ATT	ANKRD30A	-	NULL		0.398	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	ANKRD30A	HGNC	protein_coding	OTTHUMT00000047588.2	A	NM_052997		37508313	+1	no_errors	ENST00000361713	ensembl	human	known	70_37	missense	SNP	0.387	T
AP3D1	8943	genome.wustl.edu	37	19	2120979	2120979	+	Missense_Mutation	SNP	C	C	A	rs200459002	byFrequency	TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr19:2120979C>A	ENST00000345016.5	-	14	1594	c.1363G>T	c.(1363-1365)Gcc>Tcc	p.A455S	AP3D1_ENST00000355272.6_Missense_Mutation_p.A455S|AP3D1_ENST00000350812.6_Missense_Mutation_p.A286S|AP3D1_ENST00000590683.1_5'Flank|AP3D1_ENST00000356926.4_Missense_Mutation_p.A364S	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	455					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGACACGGCGAACTTGCGG	0.662																																																	0													55.0	62.0	60.0					19																	2120979		2193	4278	6471	SO:0001583	missense	8943			U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.1363G>T	19.37:g.2120979C>A	ENSP00000344055:p.Ala455Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu	p.A455S	ENST00000345016.5	37	c.1363	CCDS42459.1	19	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691338	0.68271	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.14266	2.52;2.52;2.52;2.52	4.57	4.57	0.56435	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.15262	0.0368	L	0.37750	1.13	0.80722	D	1	P;B;P	0.39116	0.66;0.434;0.553	B;B;B	0.41764	0.327;0.325;0.366	T	0.05099	-1.0906	10	0.33141	T	0.24	-29.5283	16.3169	0.82931	0.0:1.0:0.0:0.0	.	455;455;364	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	S	364;455;455;455;286	ENSP00000349398:A364S;ENSP00000344055:A455S;ENSP00000347416:A455S;ENSP00000342321:A286S	ENSP00000341579:A455S	A	-	1	0	AP3D1	2071979	1.000000	0.71417	0.143000	0.22291	0.729000	0.41735	7.648000	0.83479	2.103000	0.63969	0.462000	0.41574	GCC	AP3D1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu		0.662	AP3D1-002	KNOWN	basic|CCDS	protein_coding	AP3D1	HGNC	protein_coding	OTTHUMT00000450912.1	C			2120979	-1	no_errors	ENST00000355272	ensembl	human	known	70_37	missense	SNP	0.999	A
APOL1	8542	genome.wustl.edu	37	22	36657728	36657728	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr22:36657728G>T	ENST00000397278.3	+	5	503	c.274G>T	c.(274-276)Gag>Tag	p.E92*	APOL1_ENST00000319136.4_Nonsense_Mutation_p.E108*|APOL1_ENST00000397279.4_Nonsense_Mutation_p.E92*|APOL1_ENST00000422706.1_Nonsense_Mutation_p.E92*|APOL1_ENST00000426053.1_Nonsense_Mutation_p.E74*|APOL1_ENST00000347595.7_5'UTR|APOL1_ENST00000440669.2_3'UTR	NM_003661.3	NP_003652.2	O14791	APOL1_HUMAN	apolipoprotein L, 1	92					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cholesterol metabolic process (GO:0008203)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|intrinsic component of membrane (GO:0031224)|very-low-density lipoprotein particle (GO:0034361)	chloride channel activity (GO:0005254)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						GACTGATAATGAGGCCTGGAA	0.507																																																	0													109.0	100.0	103.0					22																	36657728		2203	4300	6503	SO:0001587	stop_gained	8542			AF019225	CCDS13925.1, CCDS13926.1, CCDS46702.1	22q13.1	2014-09-17			ENSG00000100342	ENSG00000100342		"""Apolipoproteins"""	618	protein-coding gene	gene with protein product		603743		APOL		9325276, 11374903, 16020735	Standard	NM_003661		Approved		uc011amp.2	O14791	OTTHUMG00000030427	ENST00000397278.3:c.274G>T	22.37:g.36657728G>T	ENSP00000380448:p.Glu92*	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PLQ4|B4DU12|E9PF24|O60804|Q5R3P7|Q5R3P8|Q96AB8|Q96PM4|Q9BQ03	Nonsense_Mutation	SNP	pfam_ApoL	p.E108*	ENST00000397278.3	37	c.322	CCDS13926.1	22	.	.	.	.	.	.	.	.	.	.	g	12.47	1.947487	0.34377	.	.	ENSG00000100342	ENST00000397278;ENST00000422706;ENST00000426053;ENST00000319136;ENST00000427990;ENST00000397279	.	.	.	2.48	-1.5	0.08691	.	1.759820	0.02771	N	0.119685	.	.	.	.	.	.	0.20563	N	0.999884	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	6.2632	0.20912	0.1252:0.3428:0.532:0.0	.	.	.	.	X	92;92;74;108;92;92	.	ENSP00000317674:E108X	E	+	1	0	APOL1	34987674	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.356000	0.02609	-0.570000	0.06022	-1.579000	0.00862	GAG	APOL1	-	pfam_ApoL		0.507	APOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOL1	HGNC	protein_coding	OTTHUMT00000319100.4	G	NM_145343		36657728	+1	no_errors	ENST00000319136	ensembl	human	known	70_37	nonsense	SNP	0.000	T
APP	351	genome.wustl.edu	37	21	27543063	27543063	+	5'Flank	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr21:27543063C>T	ENST00000346798.3	-	0	0				APP_ENST00000348990.5_5'UTR|APP_ENST00000359726.3_5'UTR|AP001439.2_ENST00000455275.1_RNA|APP_ENST00000358918.3_5'UTR|APP_ENST00000448388.2_Intron|APP_ENST00000354192.3_5'UTR|APP_ENST00000357903.3_5'UTR|APP_ENST00000474136.1_5'UTR|APP_ENST00000439274.2_5'Flank|AP000230.1_ENST00000608591.1_lincRNA	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein						adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CGCGTGCTCTCGCCTACCGCT	0.761																																																	0																																										SO:0001631	upstream_gene_variant	351			M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438		21.37:g.27543063C>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	RNA	SNP	-	NULL	ENST00000346798.3	37	NULL	CCDS13576.1	21																																																																																			APP	-	-		0.761	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APP	HGNC	protein_coding	OTTHUMT00000171340.1	C	NM_000484		27543063	-1	no_errors	ENST00000474136	ensembl	human	known	70_37	rna	SNP	0.293	T
AQP2	359	genome.wustl.edu	37	12	50347951	50347951	+	Missense_Mutation	SNP	C	C	T	rs104894333		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr12:50347951C>T	ENST00000199280.3	+	2	459	c.374C>T	c.(373-375)aCg>aTg	p.T125M	RP11-469H8.8_ENST00000552806.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	125			T -> M (in ANDI). {ECO:0000269|PubMed:12191971, ECO:0000269|PubMed:9550615, ECO:0000269|PubMed:9745427}.		actin filament depolymerization (GO:0030042)|aging (GO:0007568)|apoptotic process (GO:0006915)|cell volume homeostasis (GO:0006884)|cellular response to copper ion (GO:0071280)|cellular response to mercury ion (GO:0071288)|cellular response to water deprivation (GO:0042631)|excretion (GO:0007588)|female pregnancy (GO:0007565)|glycerol transport (GO:0015793)|hyperosmotic response (GO:0006972)|metanephric collecting duct development (GO:0072205)|positive regulation of calcium ion transport (GO:0051928)|renal water transport (GO:0003097)|response to calcium ion (GO:0051592)|response to glucagon (GO:0033762)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to salt stress (GO:0009651)|response to starvation (GO:0042594)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	glycerol transmembrane transporter activity (GO:0015168)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						AGCAACAGCACGACGGCTGGC	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18558	0.0		0.0	False		,,,				2504	0.0																0			GRCh37	CM980100	AQP2	M	rs104894333						69.0	72.0	71.0					12																	50347951		2203	4300	6503	SO:0001583	missense	359				CCDS8792.1	12q12-q13	2014-09-17				ENSG00000167580		"""Ion channels / Aquaporins"""	634	protein-coding gene	gene with protein product		107777				7512890	Standard	NM_000486		Approved		uc001rvn.3	P41181		ENST00000199280.3:c.374C>T	12.37:g.50347951C>T	ENSP00000199280:p.Thr125Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UD68	Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP	p.T125M	ENST00000199280.3	37	c.374	CCDS8792.1	12	.	.	.	.	.	.	.	.	.	.	C	12.49	1.953782	0.34471	.	.	ENSG00000167580	ENST00000199280;ENST00000550862	D;D	0.85411	-1.98;-1.98	4.57	4.57	0.56435	Aquaporin-like (2);	0.446030	0.21028	N	0.081386	D	0.89093	0.6617	L	0.46567	1.45	0.26837	N	0.968468	D	0.63046	0.992	D	0.67548	0.952	T	0.83039	-0.0158	10	0.59425	D	0.04	-3.4821	15.207	0.73186	0.0:1.0:0.0:0.0	.	125	P41181	AQP2_HUMAN	M	125	ENSP00000199280:T125M;ENSP00000450022:T125M	ENSP00000199280:T125M	T	+	2	0	AQP2	48634218	0.894000	0.30519	0.096000	0.21009	0.608000	0.37181	3.692000	0.54727	2.276000	0.75962	0.491000	0.48974	ACG	AQP2	-	pfam_MIP,superfamily_Aquaporin-like,tigrfam_MIP		0.637	AQP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP2	HGNC	protein_coding	OTTHUMT00000405540.1	C	NM_000486		50347951	+1	no_errors	ENST00000199280	ensembl	human	known	70_37	missense	SNP	0.912	T
AQP2	359	genome.wustl.edu	37	12	50347951	50347951	+	Missense_Mutation	SNP	C	C	T	rs104894333		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr12:50347951C>T	ENST00000199280.3	+	2	459	c.374C>T	c.(373-375)aCg>aTg	p.T125M	RP11-469H8.8_ENST00000552806.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	125			T -> M (in ANDI). {ECO:0000269|PubMed:12191971, ECO:0000269|PubMed:9550615, ECO:0000269|PubMed:9745427}.		actin filament depolymerization (GO:0030042)|aging (GO:0007568)|apoptotic process (GO:0006915)|cell volume homeostasis (GO:0006884)|cellular response to copper ion (GO:0071280)|cellular response to mercury ion (GO:0071288)|cellular response to water deprivation (GO:0042631)|excretion (GO:0007588)|female pregnancy (GO:0007565)|glycerol transport (GO:0015793)|hyperosmotic response (GO:0006972)|metanephric collecting duct development (GO:0072205)|positive regulation of calcium ion transport (GO:0051928)|renal water transport (GO:0003097)|response to calcium ion (GO:0051592)|response to glucagon (GO:0033762)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to salt stress (GO:0009651)|response to starvation (GO:0042594)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	glycerol transmembrane transporter activity (GO:0015168)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						AGCAACAGCACGACGGCTGGC	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18558	0.0		0.0	False		,,,				2504	0.0																0			GRCh37	CM980100	AQP2	M	rs104894333						69.0	72.0	71.0					12																	50347951		2203	4300	6503	SO:0001583	missense	359				CCDS8792.1	12q12-q13	2014-09-17				ENSG00000167580		"""Ion channels / Aquaporins"""	634	protein-coding gene	gene with protein product		107777				7512890	Standard	NM_000486		Approved		uc001rvn.3	P41181		ENST00000199280.3:c.374C>T	12.37:g.50347951C>T	ENSP00000199280:p.Thr125Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UD68	Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP	p.T125M	ENST00000199280.3	37	c.374	CCDS8792.1	12	.	.	.	.	.	.	.	.	.	.	C	12.49	1.953782	0.34471	.	.	ENSG00000167580	ENST00000199280;ENST00000550862	D;D	0.85411	-1.98;-1.98	4.57	4.57	0.56435	Aquaporin-like (2);	0.446030	0.21028	N	0.081386	D	0.89093	0.6617	L	0.46567	1.45	0.26837	N	0.968468	D	0.63046	0.992	D	0.67548	0.952	T	0.83039	-0.0158	10	0.59425	D	0.04	-3.4821	15.207	0.73186	0.0:1.0:0.0:0.0	.	125	P41181	AQP2_HUMAN	M	125	ENSP00000199280:T125M;ENSP00000450022:T125M	ENSP00000199280:T125M	T	+	2	0	AQP2	48634218	0.894000	0.30519	0.096000	0.21009	0.608000	0.37181	3.692000	0.54727	2.276000	0.75962	0.491000	0.48974	ACG	AQP2	-	pfam_MIP,superfamily_Aquaporin-like,tigrfam_MIP		0.637	AQP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP2	HGNC	protein_coding	OTTHUMT00000405540.1	C	NM_000486		50347951	+1	no_errors	ENST00000199280	ensembl	human	known	70_37	missense	SNP	0.912	T
ARL8B	55207	genome.wustl.edu	37	3	5164213	5164213	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr3:5164213G>T	ENST00000256496.3	+	1	309	c.63G>T	c.(61-63)atG>atT	p.M21I	ARL8B_ENST00000419534.2_Missense_Mutation_p.M21I	NM_018184.2	NP_060654.1	Q9NVJ2	ARL8B_HUMAN	ADP-ribosylation factor-like 8B	21					cell cycle (GO:0007049)|cell division (GO:0051301)|chromosome segregation (GO:0007059)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|membrane (GO:0016020)|midbody (GO:0030496)|spindle midzone (GO:0051233)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777)		AGGAAGAGATGGAGCTGACGC	0.667																																																	0													37.0	34.0	35.0					3																	5164213		2203	4300	6503	SO:0001583	missense	55207			AK001564	CCDS2566.1	3p26.1	2014-05-09	2005-11-03	2005-11-03	ENSG00000134108	ENSG00000134108		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25564	protein-coding gene	gene with protein product			"""ADP-ribosylation factor-like 10C"""	ARL10C		12477932	Standard	NM_018184		Approved	FLJ10702, Gie1	uc003bqg.3	Q9NVJ2	OTTHUMG00000090463	ENST00000256496.3:c.63G>T	3.37:g.5164213G>T	ENSP00000256496:p.Met21Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DI85	Nonsense_Mutation	SNP	NULL	p.G79*	ENST00000256496.3	37	c.235	CCDS2566.1	3	.	.	.	.	.	.	.	.	.	.	G	38	6.843401	0.97881	.	.	ENSG00000134108	ENST00000256496;ENST00000438743;ENST00000419534	T;T	0.81163	-1.46;-1.46	3.88	3.88	0.44766	Small GTP-binding protein domain (1);	0.038726	0.85682	D	0.000000	D	0.87771	0.6261	M	0.66378	2.025	0.80722	D	1	D;B;P	0.63046	0.992;0.306;0.854	D;B;P	0.67725	0.953;0.249;0.815	D	0.89747	0.3937	10	0.87932	D	0	-17.045	16.3086	0.82859	0.0:0.0:1.0:0.0	.	21;21;21	B4DI85;B4DQT8;Q9NVJ2	.;.;ARL8B_HUMAN	I	21;73;21	ENSP00000256496:M21I;ENSP00000402996:M21I	ENSP00000256496:M21I	M	+	3	0	ARL8B	5139213	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.506000	0.73712	2.108000	0.64289	0.491000	0.48974	ATG	ARL8B	-	NULL		0.667	ARL8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL8B	HGNC	protein_coding	OTTHUMT00000206910.2	G	NM_018184		5164213	+1	no_errors	ENST00000455168	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ARRB1	408	genome.wustl.edu	37	11	74995312	74995312	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:74995312G>T	ENST00000420843.2	-	4	221	c.124C>A	c.(124-126)Ctg>Atg	p.L42M	ARRB1_ENST00000393505.4_Missense_Mutation_p.L42M|ARRB1_ENST00000360025.3_Missense_Mutation_p.L42M	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	42	Interaction with SRC. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						GGATCCACCAGGACCACACCA	0.607																																																	0													66.0	59.0	62.0					11																	74995312		2200	4293	6493	SO:0001583	missense	408			BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"""arrestin 2"""	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.124C>A	11.37:g.74995312G>T	ENSP00000409581:p.Leu42Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Missense_Mutation	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin	p.L42M	ENST00000420843.2	37	c.124	CCDS44684.1	11	.	.	.	.	.	.	.	.	.	.	G	16.78	3.216954	0.58452	.	.	ENSG00000137486	ENST00000420843;ENST00000393505;ENST00000360025;ENST00000532525	T;T;T;T	0.17691	2.26;2.26;2.26;2.26	5.2	4.28	0.50868	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.000000	0.64402	D	0.000012	T	0.43809	0.1264	M	0.89163	3.01	0.48087	D	0.999585	D;D	0.76494	0.994;0.999	P;D	0.76071	0.81;0.987	T	0.44667	-0.9313	10	0.87932	D	0	-13.7587	7.7254	0.28757	0.1883:0.0:0.8117:0.0	.	42;42	P49407-2;P49407	.;ARRB1_HUMAN	M	42;42;42;37	ENSP00000409581:L42M;ENSP00000377141:L42M;ENSP00000353124:L42M;ENSP00000433171:L37M	ENSP00000353124:L42M	L	-	1	2	ARRB1	74672960	0.998000	0.40836	1.000000	0.80357	0.942000	0.58702	1.734000	0.38166	1.173000	0.42796	0.462000	0.41574	CTG	ARRB1	-	pfam_Arrestin-like_N,superfamily_Ig_E-set,prints_Arrestin		0.607	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARRB1	HGNC	protein_coding	OTTHUMT00000384092.3	G	NM_004041		74995312	-1	no_errors	ENST00000393505	ensembl	human	known	70_37	missense	SNP	1.000	T
ATG2B	55102	genome.wustl.edu	37	14	96752136	96752136	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr14:96752136C>A	ENST00000359933.4	-	42	7086	c.6193G>T	c.(6193-6195)Gtc>Ttc	p.V2065F		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	2065					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TCTTGCCGGACATCTGGCCTA	0.537																																																	0													149.0	113.0	125.0					14																	96752136		2203	4300	6503	SO:0001583	missense	55102			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.6193G>T	14.37:g.96752136C>A	ENSP00000353010:p.Val2065Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.V2065F	ENST00000359933.4	37	c.6193	CCDS9944.2	14	.	.	.	.	.	.	.	.	.	.	C	34	5.403194	0.96030	.	.	ENSG00000066739	ENST00000359933	T	0.10005	2.92	5.76	5.76	0.90799	Autophagy-related, C-terminal (1);	0.058611	0.64402	D	0.000002	T	0.22437	0.0541	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.69142	0.962	T	0.01301	-1.1391	10	0.54805	T	0.06	.	19.976	0.97309	0.0:1.0:0.0:0.0	.	2065	Q96BY7	ATG2B_HUMAN	F	2065	ENSP00000353010:V2065F	ENSP00000353010:V2065F	V	-	1	0	ATG2B	95821889	1.000000	0.71417	0.975000	0.42487	0.922000	0.55478	7.468000	0.80943	2.713000	0.92767	0.655000	0.94253	GTC	ATG2B	-	pfam_Autophagy-rel_C		0.537	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	HGNC	protein_coding	OTTHUMT00000314037.1	C	NM_018036		96752136	-1	no_errors	ENST00000359933	ensembl	human	known	70_37	missense	SNP	1.000	A
AXDND1	126859	genome.wustl.edu	37	1	179363044	179363044	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr1:179363044G>C	ENST00000367618.3	+	10	1257	c.870G>C	c.(868-870)agG>agC	p.R290S	AXDND1_ENST00000457238.2_Missense_Mutation_p.R290S|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	290										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GCAGAGAGAGGTATGTGCAAA	0.383																																																	0													110.0	105.0	107.0					1																	179363044		2203	4300	6503	SO:0001583	missense	126859			BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.870G>C	1.37:g.179363044G>C	ENSP00000356590:p.Arg290Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	pfam_Axonemal_dynein_light_chain	p.R290S	ENST00000367618.3	37	c.870	CCDS30948.1	1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.637955	0.29157	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	T;T;T	0.51325	1.98;0.71;2.0	5.51	1.64	0.23874	.	0.228496	0.45126	D	0.000388	T	0.47414	0.1444	L	0.48642	1.525	0.24765	N	0.992908	D;P;D	0.58268	0.982;0.954;0.972	P;P;P	0.55055	0.767;0.69;0.742	T	0.36625	-0.9740	10	0.59425	D	0.04	-0.6366	4.9002	0.13771	0.3202:0.1448:0.5351:0.0	.	248;290;290	E9PCJ4;Q5T1B0;F5GWM2	.;AXDN1_HUMAN;.	S	290;248;290;224	ENSP00000356590:R290S;ENSP00000416712:R290S;ENSP00000391716:R224S	ENSP00000353471:R248S	R	+	3	2	AXDND1	177629667	0.994000	0.37717	0.980000	0.43619	0.017000	0.09413	0.086000	0.14935	0.058000	0.16222	-0.796000	0.03273	AGG	AXDND1	-	pfam_Axonemal_dynein_light_chain		0.383	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AXDND1	HGNC	protein_coding	OTTHUMT00000085312.1	G	NM_144696		179363044	+1	no_errors	ENST00000367618	ensembl	human	known	70_37	missense	SNP	0.996	C
AXDND1	126859	genome.wustl.edu	37	1	179363044	179363044	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr1:179363044G>C	ENST00000367618.3	+	10	1257	c.870G>C	c.(868-870)agG>agC	p.R290S	AXDND1_ENST00000457238.2_Missense_Mutation_p.R290S|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	290										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GCAGAGAGAGGTATGTGCAAA	0.383																																																	0													110.0	105.0	107.0					1																	179363044		2203	4300	6503	SO:0001583	missense	126859			BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.870G>C	1.37:g.179363044G>C	ENSP00000356590:p.Arg290Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	pfam_Axonemal_dynein_light_chain	p.R290S	ENST00000367618.3	37	c.870	CCDS30948.1	1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.637955	0.29157	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	T;T;T	0.51325	1.98;0.71;2.0	5.51	1.64	0.23874	.	0.228496	0.45126	D	0.000388	T	0.47414	0.1444	L	0.48642	1.525	0.24765	N	0.992908	D;P;D	0.58268	0.982;0.954;0.972	P;P;P	0.55055	0.767;0.69;0.742	T	0.36625	-0.9740	10	0.59425	D	0.04	-0.6366	4.9002	0.13771	0.3202:0.1448:0.5351:0.0	.	248;290;290	E9PCJ4;Q5T1B0;F5GWM2	.;AXDN1_HUMAN;.	S	290;248;290;224	ENSP00000356590:R290S;ENSP00000416712:R290S;ENSP00000391716:R224S	ENSP00000353471:R248S	R	+	3	2	AXDND1	177629667	0.994000	0.37717	0.980000	0.43619	0.017000	0.09413	0.086000	0.14935	0.058000	0.16222	-0.796000	0.03273	AGG	AXDND1	-	pfam_Axonemal_dynein_light_chain		0.383	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AXDND1	HGNC	protein_coding	OTTHUMT00000085312.1	G	NM_144696		179363044	+1	no_errors	ENST00000367618	ensembl	human	known	70_37	missense	SNP	0.996	C
BCL6	604	genome.wustl.edu	37	3	187444680	187444680	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr3:187444680C>T	ENST00000406870.2	-	7	1913	c.1547G>A	c.(1546-1548)gGg>gAg	p.G516E	RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Intron|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.G516E	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	516					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GAAGAAGGCCCCGTTCTCTGT	0.577			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																			Dom	yes		3	3q27	604	B-cell CLL/lymphoma 6		L	0													94.0	83.0	87.0					3																	187444680		2203	4300	6503	SO:0001583	missense	604				CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.1547G>A	3.37:g.187444680C>T	ENSP00000384371:p.Gly516Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.G516E	ENST00000406870.2	37	c.1547	CCDS3289.1	3	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383530	0.82792	.	.	ENSG00000113916	ENST00000406870;ENST00000232014	T;T	0.10477	2.87;2.87	5.74	5.74	0.90152	.	0.092317	0.85682	D	0.000000	T	0.25344	0.0616	L	0.35542	1.07	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00205	-1.1922	10	0.44086	T	0.13	.	19.2995	0.94138	0.0:1.0:0.0:0.0	.	516	P41182	BCL6_HUMAN	E	516	ENSP00000384371:G516E;ENSP00000232014:G516E	ENSP00000232014:G516E	G	-	2	0	BCL6	188927374	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.754000	0.68743	2.884000	0.98904	0.655000	0.94253	GGG	BCL6	-	NULL		0.577	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL6	HGNC	protein_coding	OTTHUMT00000344202.1	C	NM_138931		187444680	-1	no_errors	ENST00000232014	ensembl	human	known	70_37	missense	SNP	1.000	T
C11orf52	91894	genome.wustl.edu	37	11	111795061	111795061	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:111795061C>G	ENST00000278601.5	+	2	140	c.44C>G	c.(43-45)tCa>tGa	p.S15*	CRYAB_ENST00000527950.1_5'Flank|DIXDC1_ENST00000529225.1_5'Flank|C11orf52_ENST00000527286.1_3'UTR|HSPB2-C11orf52_ENST00000534100.1_3'UTR	NM_080659.2	NP_542390.2	Q96A22	CK052_HUMAN	chromosome 11 open reading frame 52	15						extracellular vesicular exosome (GO:0070062)				lung(2)|ovary(1)	3		all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		AGCTGCCCATCAACTTTCCAG	0.468																																																	0													133.0	141.0	138.0					11																	111795061		2201	4297	6498	SO:0001587	stop_gained	91894			AK057948	CCDS8353.1	11q23.1	2006-02-06	2006-02-06		ENSG00000149300	ENSG00000149300			30531	protein-coding gene	gene with protein product							Standard	NM_080659		Approved	MGC14839, FLJ25219		Q96A22	OTTHUMG00000166888	ENST00000278601.5:c.44C>G	11.37:g.111795061C>G	ENSP00000278601:p.Ser15*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	NULL	p.S15*	ENST00000278601.5	37	c.44	CCDS8353.1	11	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298488	0.40694	.	.	ENSG00000149300	ENST00000529342;ENST00000278601	.	.	.	5.2	5.2	0.72013	.	0.184499	0.26642	N	0.023260	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-6.4188	14.4281	0.67230	0.0:1.0:0.0:0.0	.	.	.	.	X	15	.	ENSP00000278601:S15X	S	+	2	0	C11orf52	111300271	0.982000	0.34865	0.265000	0.24526	0.014000	0.08584	3.543000	0.53633	2.861000	0.98227	0.655000	0.94253	TCA	C11orf52	-	NULL		0.468	C11orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf52	HGNC	protein_coding	OTTHUMT00000391673.1	C	NM_080659		111795061	+1	no_errors	ENST00000278601	ensembl	human	known	70_37	nonsense	SNP	0.759	G
C11orf52	91894	genome.wustl.edu	37	11	111795061	111795061	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:111795061C>G	ENST00000278601.5	+	2	140	c.44C>G	c.(43-45)tCa>tGa	p.S15*	CRYAB_ENST00000527950.1_5'Flank|DIXDC1_ENST00000529225.1_5'Flank|C11orf52_ENST00000527286.1_3'UTR|HSPB2-C11orf52_ENST00000534100.1_3'UTR	NM_080659.2	NP_542390.2	Q96A22	CK052_HUMAN	chromosome 11 open reading frame 52	15						extracellular vesicular exosome (GO:0070062)				lung(2)|ovary(1)	3		all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		AGCTGCCCATCAACTTTCCAG	0.468																																																	0													133.0	141.0	138.0					11																	111795061		2201	4297	6498	SO:0001587	stop_gained	91894			AK057948	CCDS8353.1	11q23.1	2006-02-06	2006-02-06		ENSG00000149300	ENSG00000149300			30531	protein-coding gene	gene with protein product							Standard	NM_080659		Approved	MGC14839, FLJ25219		Q96A22	OTTHUMG00000166888	ENST00000278601.5:c.44C>G	11.37:g.111795061C>G	ENSP00000278601:p.Ser15*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	NULL	p.S15*	ENST00000278601.5	37	c.44	CCDS8353.1	11	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298488	0.40694	.	.	ENSG00000149300	ENST00000529342;ENST00000278601	.	.	.	5.2	5.2	0.72013	.	0.184499	0.26642	N	0.023260	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-6.4188	14.4281	0.67230	0.0:1.0:0.0:0.0	.	.	.	.	X	15	.	ENSP00000278601:S15X	S	+	2	0	C11orf52	111300271	0.982000	0.34865	0.265000	0.24526	0.014000	0.08584	3.543000	0.53633	2.861000	0.98227	0.655000	0.94253	TCA	C11orf52	-	NULL		0.468	C11orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf52	HGNC	protein_coding	OTTHUMT00000391673.1	C	NM_080659		111795061	+1	no_errors	ENST00000278601	ensembl	human	known	70_37	nonsense	SNP	0.759	G
C1QTNF6	114904	genome.wustl.edu	37	22	37578265	37578265	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr22:37578265G>T	ENST00000337843.2	-	3	875	c.800C>A	c.(799-801)aCc>aAc	p.T267N	C1QTNF6_ENST00000470655.1_5'UTR|C1QTNF6_ENST00000397110.2_Missense_Mutation_p.T267N|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000255836.6_Missense_Mutation_p.T143N	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	248					protein heterotrimerization (GO:0070208)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						GCCGCTGAAGGTGATGTAGGT	0.662																																																	0													71.0	65.0	67.0					22																	37578265		2203	4300	6503	SO:0001583	missense	114904			AF329842	CCDS13943.1	22q13.1	2014-02-21			ENSG00000133466	ENSG00000133466			14343	protein-coding gene	gene with protein product		614910				12975309	Standard	NM_031910		Approved	CTRP6, ZACRP6	uc003aqy.1	Q9BXI9	OTTHUMG00000150538	ENST00000337843.2:c.800C>A	22.37:g.37578265G>T	ENSP00000338812:p.Thr267Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5H9G8|Q6ZRM7	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.T267N	ENST00000337843.2	37	c.800	CCDS13943.1	22	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018155	0.75275	.	.	ENSG00000133466	ENST00000397110;ENST00000337843;ENST00000255836	T;T;T	0.78481	-1.18;-1.18;-1.18	4.84	4.84	0.62591	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	D	0.90034	0.6888	M	0.93763	3.455	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.91877	0.5512	10	0.87932	D	0	.	11.4743	0.50288	0.0828:0.0:0.9172:0.0	.	267;248	Q9BXI9-2;Q9BXI9	.;C1QT6_HUMAN	N	267;267;143	ENSP00000380299:T267N;ENSP00000338812:T267N;ENSP00000255836:T143N	ENSP00000255836:T143N	T	-	2	0	C1QTNF6	35908211	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	8.048000	0.89442	2.238000	0.73509	0.491000	0.48974	ACC	C1QTNF6	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q		0.662	C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QTNF6	HGNC	protein_coding	OTTHUMT00000318807.1	G	NM_182486		37578265	-1	no_errors	ENST00000337843	ensembl	human	known	70_37	missense	SNP	1.000	T
C2orf49	79074	genome.wustl.edu	37	2	105954074	105954074	+	Silent	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr2:105954074C>T	ENST00000258457.2	+	1	259	c.30C>T	c.(28-30)tgC>tgT	p.C10C	RP11-332H14.2_ENST00000610036.1_lincRNA|C2orf49_ENST00000437250.2_Silent_p.C48C|C2orf49_ENST00000410049.1_Silent_p.C10C			Q9BVC5	ASHWN_HUMAN	chromosome 2 open reading frame 49	10					embryonic morphogenesis (GO:0048598)	tRNA-splicing ligase complex (GO:0072669)				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						GTCGCAGCTGCACGGACTCGG	0.677																																																	0													27.0	29.0	28.0					2																	105954074		2203	4299	6502	SO:0001819	synonymous_variant	79074			BC001310	CCDS2068.1, CCDS74550.1	2q12.2	2009-04-22			ENSG00000135974	ENSG00000135974			28772	protein-coding gene	gene with protein product	"""ashwin"""					12477932	Standard	NM_001286537		Approved	MGC5509, asw	uc002tcs.1	Q9BVC5	OTTHUMG00000130808	ENST00000258457.2:c.30C>T	2.37:g.105954074C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KXN3|B4E2G9	Silent	SNP	NULL	p.C10	ENST00000258457.2	37	c.30	CCDS2068.1	2																																																																																			C2orf49	-	NULL		0.677	C2orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf49	HGNC	protein_coding	OTTHUMT00000253353.2	C	NM_024093		105954074	+1	no_errors	ENST00000258457	ensembl	human	known	70_37	silent	SNP	0.106	T
C2orf49	79074	genome.wustl.edu	37	2	105954074	105954074	+	Silent	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr2:105954074C>T	ENST00000258457.2	+	1	259	c.30C>T	c.(28-30)tgC>tgT	p.C10C	RP11-332H14.2_ENST00000610036.1_lincRNA|C2orf49_ENST00000437250.2_Silent_p.C48C|C2orf49_ENST00000410049.1_Silent_p.C10C			Q9BVC5	ASHWN_HUMAN	chromosome 2 open reading frame 49	10					embryonic morphogenesis (GO:0048598)	tRNA-splicing ligase complex (GO:0072669)				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						GTCGCAGCTGCACGGACTCGG	0.677																																																	0													27.0	29.0	28.0					2																	105954074		2203	4299	6502	SO:0001819	synonymous_variant	79074			BC001310	CCDS2068.1, CCDS74550.1	2q12.2	2009-04-22			ENSG00000135974	ENSG00000135974			28772	protein-coding gene	gene with protein product	"""ashwin"""					12477932	Standard	NM_001286537		Approved	MGC5509, asw	uc002tcs.1	Q9BVC5	OTTHUMG00000130808	ENST00000258457.2:c.30C>T	2.37:g.105954074C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KXN3|B4E2G9	Silent	SNP	NULL	p.C10	ENST00000258457.2	37	c.30	CCDS2068.1	2																																																																																			C2orf49	-	NULL		0.677	C2orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf49	HGNC	protein_coding	OTTHUMT00000253353.2	C	NM_024093		105954074	+1	no_errors	ENST00000258457	ensembl	human	known	70_37	silent	SNP	0.106	T
C3	718	genome.wustl.edu	37	19	6713311	6713311	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr19:6713311C>A	ENST00000245907.6	-	9	984	c.892G>T	c.(892-894)Ggg>Tgg	p.G298W		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	298					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	ACAACCTCCCCCGAGCCATCC	0.632																																																	0													36.0	35.0	36.0					19																	6713311		2203	4300	6503	SO:0001583	missense	718			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.892G>T	19.37:g.6713311C>A	ENSP00000245907:p.Gly298Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E236	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.G298W	ENST00000245907.6	37	c.892	CCDS32883.1	19	.	.	.	.	.	.	.	.	.	.	C	17.67	3.445952	0.63178	.	.	ENSG00000125730	ENST00000245907	T	0.38722	1.12	5.04	4.01	0.46588	.	0.173442	0.49916	D	0.000133	T	0.68860	0.3047	M	0.92604	3.325	0.40213	D	0.977642	D	0.89917	1.0	D	0.91635	0.999	T	0.75587	-0.3266	10	0.66056	D	0.02	.	10.0397	0.42151	0.0:0.9041:0.0:0.0959	.	298	P01024	CO3_HUMAN	W	298	ENSP00000245907:G298W	ENSP00000245907:G298W	G	-	1	0	C3	6664311	0.188000	0.23250	0.224000	0.23877	0.003000	0.03518	2.267000	0.43329	2.352000	0.79861	0.484000	0.47621	GGG	C3	-	NULL		0.632	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2	C	NM_000064		6713311	-1	no_errors	ENST00000245907	ensembl	human	known	70_37	missense	SNP	0.906	A
CBLL1	79872	genome.wustl.edu	37	7	107393876	107393876	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr7:107393876G>C	ENST00000440859.3	+	3	669	c.202G>C	c.(202-204)Gaa>Caa	p.E68Q	CBLL1_ENST00000415884.2_Missense_Mutation_p.E68Q|CBLL1_ENST00000222597.2_Missense_Mutation_p.E67Q	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	68					negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						TTATAATGAAGAAGAACGGTA	0.333																																																	0													60.0	67.0	65.0					7																	107393876		2203	4300	6503	SO:0001583	missense	79872			AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"""RING-type (C3HC4) zinc fingers"""	21225	protein-coding gene	gene with protein product	"""Casitas B-lineage lymphoma-like"""	606872	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"""			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.202G>C	7.37:g.107393876G>C	ENSP00000401277:p.Glu68Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZM03|Q8TAJ4|Q9H5S6	Missense_Mutation	SNP	pfscan_Znf_RING	p.E68Q	ENST00000440859.3	37	c.202	CCDS5747.1	7	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550772	0.86127	.	.	ENSG00000105879	ENST00000440859;ENST00000222597;ENST00000420796;ENST00000415884;ENST00000417616	T;T;T	0.42900	1.03;0.96;1.09	5.67	4.79	0.61399	.	0.114760	0.64402	D	0.000019	T	0.50939	0.1645	L	0.58101	1.795	0.53005	D	0.999969	P;P	0.48162	0.906;0.728	P;B	0.51701	0.677;0.294	T	0.48352	-0.9043	10	0.35671	T	0.21	-2.3813	14.6237	0.68605	0.07:0.0:0.93:0.0	.	67;68	B7ZM03;Q75N03	.;HAKAI_HUMAN	Q	68;67;18;18;14	ENSP00000401277:E68Q;ENSP00000222597:E67Q;ENSP00000410615:E18Q	ENSP00000222597:E67Q	E	+	1	0	CBLL1	107181112	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.235000	0.78143	1.403000	0.46800	0.563000	0.77884	GAA	CBLL1	-	NULL		0.333	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CBLL1	HGNC	protein_coding	OTTHUMT00000337156.2	G	NM_024814		107393876	+1	no_errors	ENST00000440859	ensembl	human	known	70_37	missense	SNP	1.000	C
CBLL1	79872	genome.wustl.edu	37	7	107393876	107393876	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr7:107393876G>C	ENST00000440859.3	+	3	669	c.202G>C	c.(202-204)Gaa>Caa	p.E68Q	CBLL1_ENST00000415884.2_Missense_Mutation_p.E68Q|CBLL1_ENST00000222597.2_Missense_Mutation_p.E67Q	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	68					negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						TTATAATGAAGAAGAACGGTA	0.333																																																	0													60.0	67.0	65.0					7																	107393876		2203	4300	6503	SO:0001583	missense	79872			AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"""RING-type (C3HC4) zinc fingers"""	21225	protein-coding gene	gene with protein product	"""Casitas B-lineage lymphoma-like"""	606872	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"""			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.202G>C	7.37:g.107393876G>C	ENSP00000401277:p.Glu68Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZM03|Q8TAJ4|Q9H5S6	Missense_Mutation	SNP	pfscan_Znf_RING	p.E68Q	ENST00000440859.3	37	c.202	CCDS5747.1	7	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550772	0.86127	.	.	ENSG00000105879	ENST00000440859;ENST00000222597;ENST00000420796;ENST00000415884;ENST00000417616	T;T;T	0.42900	1.03;0.96;1.09	5.67	4.79	0.61399	.	0.114760	0.64402	D	0.000019	T	0.50939	0.1645	L	0.58101	1.795	0.53005	D	0.999969	P;P	0.48162	0.906;0.728	P;B	0.51701	0.677;0.294	T	0.48352	-0.9043	10	0.35671	T	0.21	-2.3813	14.6237	0.68605	0.07:0.0:0.93:0.0	.	67;68	B7ZM03;Q75N03	.;HAKAI_HUMAN	Q	68;67;18;18;14	ENSP00000401277:E68Q;ENSP00000222597:E67Q;ENSP00000410615:E18Q	ENSP00000222597:E67Q	E	+	1	0	CBLL1	107181112	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.235000	0.78143	1.403000	0.46800	0.563000	0.77884	GAA	CBLL1	-	NULL		0.333	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CBLL1	HGNC	protein_coding	OTTHUMT00000337156.2	G	NM_024814		107393876	+1	no_errors	ENST00000440859	ensembl	human	known	70_37	missense	SNP	1.000	C
CCDC12	151903	genome.wustl.edu	37	3	46982549	46982549	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr3:46982549C>A	ENST00000546280.1	-	2	150	c.103G>T	c.(103-105)Gaa>Taa	p.E35*	CCDC12_ENST00000292314.2_Nonsense_Mutation_p.E48*|CCDC12_ENST00000605358.1_5'UTR|CCDC12_ENST00000425441.1_Nonsense_Mutation_p.E48*	NM_144716.3	NP_653317.2	Q8WUD4	CCD12_HUMAN	coiled-coil domain containing 12	35										endometrium(1)|large_intestine(1)|urinary_tract(1)	3		Prostate(884;0.0143)|Ovarian(412;0.0448)|Acute lymphoblastic leukemia(5;0.143)		OV - Ovarian serous cystadenocarcinoma(275;2.2e-56)|BRCA - Breast invasive adenocarcinoma(193;0.00136)|KIRC - Kidney renal clear cell carcinoma(197;0.00703)|Kidney(197;0.00809)		TCCCCATCTTCCTTGTCCTGC	0.537																																																	0													204.0	178.0	187.0					3																	46982549		2203	4300	6503	SO:0001587	stop_gained	151903			BC020830	CCDS2748.1, CCDS2748.2, CCDS2748.3, CCDS63612.1	3p21.31	2006-10-24			ENSG00000160799	ENSG00000160799			28332	protein-coding gene	gene with protein product						12477932	Standard	NM_001277074		Approved	MGC23918	uc003cqo.3	Q8WUD4	OTTHUMG00000133513	ENST00000546280.1:c.103G>T	3.37:g.46982549C>A	ENSP00000441327:p.Glu35*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N8I4	Nonsense_Mutation	SNP	pfam_mRNA_splic_Cwf18	p.E48*	ENST00000546280.1	37	c.142		3	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893027	0.72524	.	.	ENSG00000160799	ENST00000425441;ENST00000292314;ENST00000546280;ENST00000446836	.	.	.	3.8	1.87	0.25490	.	0.493494	0.24415	N	0.038729	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-19.0836	9.7965	0.40737	0.0:0.5884:0.4116:0.0	.	.	.	.	X	48;48;35;48	.	ENSP00000292314:E48X	E	-	1	0	CCDC12	46957553	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.137000	0.31479	0.512000	0.28257	0.555000	0.69702	GAA	CCDC12	-	pfam_mRNA_splic_Cwf18		0.537	CCDC12-202	KNOWN	basic|appris_principal	protein_coding	CCDC12	HGNC	protein_coding		C	NM_144716		46982549	-1	no_errors	ENST00000292314	ensembl	human	known	70_37	nonsense	SNP	1.000	A
CCDC90B	60492	genome.wustl.edu	37	11	82996675	82996675	+	Intron	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:82996675G>T	ENST00000529689.1	-	1	535				CCDC90B_ENST00000529073.1_Intron|RP11-727A23.10_ENST00000530045.1_RNA|CCDC90B_ENST00000529611.1_5'UTR|RP11-727A23.10_ENST00000534572.1_RNA|CCDC90B_ENST00000455220.2_Intron|CCDC90B_ENST00000525503.1_5'UTR			Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B							integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				AGCCGGGCGCGAAGCCCAGGC	0.552																																																	0																																										SO:0001627	intron_variant	60492			BC048795	CCDS8266.1, CCDS66190.1, CCDS66191.1	11q14.1	2006-10-23			ENSG00000137500	ENSG00000137500			28108	protein-coding gene	gene with protein product						11230166	Standard	XM_005274154		Approved	MDS025, MDS011	uc001pae.3	Q9GZT6	OTTHUMG00000167078	ENST00000529689.1:c.100+240C>A	11.37:g.82996675G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8I4|B3KP87|B4E3L2|Q3B781|Q9GZU6	RNA	SNP	-	NULL	ENST00000529689.1	37	NULL	CCDS8266.1	11																																																																																			CCDC90B	-	-		0.552	CCDC90B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC90B	HGNC	protein_coding	OTTHUMT00000392940.2	G	NM_021825		82996675	-1	no_errors	ENST00000525916	ensembl	human	known	70_37	rna	SNP	0.002	T
CCT3	7203	genome.wustl.edu	37	1	156308088	156308088	+	5'UTR	SNP	C	C	G	rs550124233	byFrequency	TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr1:156308088C>G	ENST00000295688.3	-	0	168				TSACC_ENST00000368254.1_5'Flank|TSACC_ENST00000466306.1_5'Flank|CCT3_ENST00000368261.3_5'Flank|TSACC_ENST00000368255.3_Intron|TSACC_ENST00000368253.2_5'Flank|TSACC_ENST00000481479.1_5'Flank|TSACC_ENST00000368252.1_5'Flank|TSACC_ENST00000368251.1_5'Flank|TSACC_ENST00000470342.1_5'Flank|CCT3_ENST00000368256.3_5'UTR|CCT3_ENST00000368259.2_5'Flank|CCT3_ENST00000472765.2_5'Flank	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)						'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GCTTACACCTCAACCCGCTAC	0.572																																																	0																																										SO:0001623	5_prime_UTR_variant	7203			BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"""Heat Shock Proteins / Chaperonins"""	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.-113G>C	1.37:g.156308088C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NE14|Q5SZY1|Q9BR64	RNA	SNP	-	NULL	ENST00000295688.3	37	NULL	CCDS1140.2	1																																																																																			CCT3	-	-		0.572	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT3	HGNC	protein_coding	OTTHUMT00000060602.3	C	NM_005998		156308088	-1	no_errors	ENST00000368256	ensembl	human	known	70_37	rna	SNP	0.076	G
CD3D	915	genome.wustl.edu	37	11	118213300	118213300	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:118213300G>T	ENST00000300692.4	-	1	159	c.23C>A	c.(22-24)tCt>tAt	p.S8Y	CD3G_ENST00000532917.1_5'Flank|CD3G_ENST00000392883.2_5'Flank|CD3D_ENST00000392884.2_Missense_Mutation_p.S8Y|CD3D_ENST00000529594.1_Missense_Mutation_p.S8Y	NM_000732.4	NP_000723.1	P04234	CD3D_HUMAN	CD3d molecule, delta (CD3-TCR complex)	8					cell surface receptor signaling pathway (GO:0007166)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive thymic T cell selection (GO:0045059)|regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	alpha-beta T cell receptor complex (GO:0042105)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	Muromonab(DB00075)	TACCAGGCCAGAGAGAAACGT	0.572																																																	0													159.0	114.0	129.0					11																	118213300		2200	4296	6496	SO:0001583	missense	915			X01451	CCDS8394.1, CCDS41724.1	11q23	2014-09-17	2006-03-28		ENSG00000167286	ENSG00000167286		"""CD molecules"""	1673	protein-coding gene	gene with protein product		186790	"""CD3d antigen, delta polypeptide (TiT3 complex)"""	T3D			Standard	NM_000732		Approved		uc001pss.1	P04234	OTTHUMG00000166970	ENST00000300692.4:c.23C>A	11.37:g.118213300G>T	ENSP00000300692:p.Ser8Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MVP6	Missense_Mutation	SNP	pfam_Phos_immunorcpt_sig_ITAM,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM	p.S8Y	ENST00000300692.4	37	c.23	CCDS8394.1	11	.	.	.	.	.	.	.	.	.	.	G	8.259	0.810645	0.16537	.	.	ENSG00000167286	ENST00000300692;ENST00000529594;ENST00000392884	T;T;T	0.70986	-0.17;-0.53;0.8	4.88	0.824	0.18818	.	0.853589	0.10690	N	0.645339	T	0.66015	0.2747	L	0.51422	1.61	0.09310	N	1	P;P	0.51653	0.947;0.947	P;B	0.47744	0.556;0.254	T	0.56141	-0.8028	10	0.66056	D	0.02	-0.2608	4.7837	0.13215	0.2576:0.1585:0.5839:0.0	.	8;8	A8MVP6;P04234	.;CD3D_HUMAN	Y	8	ENSP00000300692:S8Y;ENSP00000437335:S8Y;ENSP00000376622:S8Y	ENSP00000300692:S8Y	S	-	2	0	CD3D	117718510	0.000000	0.05858	0.003000	0.11579	0.032000	0.12392	0.222000	0.17699	0.068000	0.16574	0.655000	0.94253	TCT	CD3D	-	NULL		0.572	CD3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD3D	HGNC	protein_coding	OTTHUMT00000392128.1	G	NM_000732		118213300	-1	no_errors	ENST00000300692	ensembl	human	known	70_37	missense	SNP	0.007	T
CD3D	915	genome.wustl.edu	37	11	118213309	118213309	+	Missense_Mutation	SNP	G	G	T	rs200390025		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:118213309G>T	ENST00000300692.4	-	1	150	c.14C>A	c.(13-15)aCg>aAg	p.T5K	CD3G_ENST00000532917.1_5'Flank|CD3G_ENST00000392883.2_5'Flank|CD3D_ENST00000392884.2_Missense_Mutation_p.T5K|CD3D_ENST00000529594.1_Missense_Mutation_p.T5K	NM_000732.4	NP_000723.1	P04234	CD3D_HUMAN	CD3d molecule, delta (CD3-TCR complex)	5					cell surface receptor signaling pathway (GO:0007166)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive thymic T cell selection (GO:0045059)|regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	alpha-beta T cell receptor complex (GO:0042105)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	Muromonab(DB00075)	AGAGAGAAACGTGCTATGTTC	0.562																																																	0													159.0	113.0	129.0					11																	118213309		2200	4296	6496	SO:0001583	missense	915			X01451	CCDS8394.1, CCDS41724.1	11q23	2014-09-17	2006-03-28		ENSG00000167286	ENSG00000167286		"""CD molecules"""	1673	protein-coding gene	gene with protein product		186790	"""CD3d antigen, delta polypeptide (TiT3 complex)"""	T3D			Standard	NM_000732		Approved		uc001pss.1	P04234	OTTHUMG00000166970	ENST00000300692.4:c.14C>A	11.37:g.118213309G>T	ENSP00000300692:p.Thr5Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MVP6	Missense_Mutation	SNP	pfam_Phos_immunorcpt_sig_ITAM,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM	p.T5K	ENST00000300692.4	37	c.14	CCDS8394.1	11	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782114	0.31502	.	.	ENSG00000167286	ENST00000300692;ENST00000529594;ENST00000392884	T;T;T	0.63744	0.03;-0.06;1.01	4.88	0.678	0.17969	.	0.815377	0.11539	N	0.553986	T	0.20820	0.0501	N	0.00841	-1.15	0.09310	N	1	B;B	0.19073	0.023;0.033	B;B	0.15484	0.008;0.013	T	0.33854	-0.9852	10	0.02654	T	1	-0.0053	2.6409	0.04971	0.326:0.4159:0.1652:0.0929	.	5;5	A8MVP6;P04234	.;CD3D_HUMAN	K	5	ENSP00000300692:T5K;ENSP00000437335:T5K;ENSP00000376622:T5K	ENSP00000300692:T5K	T	-	2	0	CD3D	117718519	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.028000	0.12350	0.361000	0.24292	-0.823000	0.03104	ACG	CD3D	-	NULL		0.562	CD3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD3D	HGNC	protein_coding	OTTHUMT00000392128.1	G	NM_000732		118213309	-1	no_errors	ENST00000300692	ensembl	human	known	70_37	missense	SNP	0.000	T
CEP135	9662	genome.wustl.edu	37	4	56831889	56831889	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr4:56831889C>G	ENST00000257287.4	+	8	1032	c.908C>G	c.(907-909)tCt>tGt	p.S303C		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	303					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					ACAGTGACATCTGAAGTCGTT	0.353																																																	0													64.0	63.0	64.0					4																	56831889		2203	4300	6503	SO:0001583	missense	9662			AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.908C>G	4.37:g.56831889C>G	ENSP00000257287:p.Ser303Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	superfamily_Prefoldin	p.S303C	ENST00000257287.4	37	c.908	CCDS33986.1	4	.	.	.	.	.	.	.	.	.	.	C	16.10	3.028385	0.54790	.	.	ENSG00000174799	ENST00000257287	T	0.49432	0.78	5.67	1.18	0.20946	.	0.429582	0.27901	N	0.017382	T	0.45357	0.1338	L	0.43152	1.355	0.09310	N	0.999992	P	0.49696	0.927	P	0.49276	0.605	T	0.40646	-0.9552	10	0.66056	D	0.02	.	11.1426	0.48411	0.1776:0.238:0.5844:0.0	.	303	Q66GS9	CP135_HUMAN	C	303	ENSP00000257287:S303C	ENSP00000257287:S303C	S	+	2	0	CEP135	56526646	1.000000	0.71417	0.124000	0.21820	0.911000	0.54048	1.039000	0.30266	0.685000	0.31468	0.460000	0.39030	TCT	CEP135	-	NULL		0.353	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP135	HGNC	protein_coding	OTTHUMT00000362092.2	C	NM_025009		56831889	+1	no_errors	ENST00000257287	ensembl	human	known	70_37	missense	SNP	0.276	G
CEP135	9662	genome.wustl.edu	37	4	56831889	56831889	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr4:56831889C>G	ENST00000257287.4	+	8	1032	c.908C>G	c.(907-909)tCt>tGt	p.S303C		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	303					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					ACAGTGACATCTGAAGTCGTT	0.353																																																	0													64.0	63.0	64.0					4																	56831889		2203	4300	6503	SO:0001583	missense	9662			AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.908C>G	4.37:g.56831889C>G	ENSP00000257287:p.Ser303Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	superfamily_Prefoldin	p.S303C	ENST00000257287.4	37	c.908	CCDS33986.1	4	.	.	.	.	.	.	.	.	.	.	C	16.10	3.028385	0.54790	.	.	ENSG00000174799	ENST00000257287	T	0.49432	0.78	5.67	1.18	0.20946	.	0.429582	0.27901	N	0.017382	T	0.45357	0.1338	L	0.43152	1.355	0.09310	N	0.999992	P	0.49696	0.927	P	0.49276	0.605	T	0.40646	-0.9552	10	0.66056	D	0.02	.	11.1426	0.48411	0.1776:0.238:0.5844:0.0	.	303	Q66GS9	CP135_HUMAN	C	303	ENSP00000257287:S303C	ENSP00000257287:S303C	S	+	2	0	CEP135	56526646	1.000000	0.71417	0.124000	0.21820	0.911000	0.54048	1.039000	0.30266	0.685000	0.31468	0.460000	0.39030	TCT	CEP135	-	NULL		0.353	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP135	HGNC	protein_coding	OTTHUMT00000362092.2	C	NM_025009		56831889	+1	no_errors	ENST00000257287	ensembl	human	known	70_37	missense	SNP	0.276	G
CGA	1081	genome.wustl.edu	37	6	87795485	87795485	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr6:87795485G>C	ENST00000369582.2	-	4	440	c.340C>G	c.(340-342)Cac>Gac	p.H114D	RN7SKP209_ENST00000516888.1_RNA	NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN	glycoprotein hormones, alpha polypeptide	114					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|cellular response to hormone stimulus (GO:0032870)|developmental growth (GO:0048589)|follicle-stimulating hormone secretion (GO:0046884)|gonad development (GO:0008406)|luteinizing hormone secretion (GO:0032275)|negative regulation of organ growth (GO:0046621)|peptide hormone processing (GO:0016486)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.H114N(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		TAAGATTTGTGATAATAACAA	0.368																																																	1	Substitution - Missense(1)	lung(1)											81.0	77.0	78.0					6																	87795485		2203	4300	6503	SO:0001583	missense	1081			V00518	CCDS5007.1, CCDS75492.1	6q14-q21	2013-02-26			ENSG00000135346	ENSG00000135346		"""Endogenous ligands"""	1885	protein-coding gene	gene with protein product	"""follicle-stimulating hormone alpha subunit"", ""chorionic gonadotropin, alpha polypeptide"", ""luteinizing hormone alpha chain"", ""lutropin alpha chain"", ""thyroid-stimulating hormone alpha chain"", ""glycoprotein hormones alpha chain"""	118850				6286817	Standard	NM_000735		Approved	HCG, GPHa, GPHA1, FSHA, LHA, TSHA	uc021zci.1	P01215	OTTHUMG00000015161	ENST00000369582.2:c.340C>G	6.37:g.87795485G>C	ENSP00000358595:p.His114Asp	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Glyco_hormone,smart_Glyco_hormone,pfscan_Glyco_hormone,prints_Glyco_hormone	p.H114D	ENST00000369582.2	37	c.340	CCDS5007.1	6	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558310	0.65538	.	.	ENSG00000135346	ENST00000369582	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.76730	0.4028	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78089	-0.2340	9	0.87932	D	0	-0.9765	19.9155	0.97058	0.0:0.0:1.0:0.0	.	114	P01215	GLHA_HUMAN	D	114	.	ENSP00000358595:H114D	H	-	1	0	CGA	87852204	1.000000	0.71417	1.000000	0.80357	0.197000	0.23852	9.097000	0.94193	2.699000	0.92147	0.650000	0.86243	CAC	CGA	-	pfam_Glyco_hormone,smart_Glyco_hormone,pfscan_Glyco_hormone,prints_Glyco_hormone		0.368	CGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGA	HGNC	protein_coding	OTTHUMT00000041425.1	G	NM_000735		87795485	-1	no_errors	ENST00000369582	ensembl	human	known	70_37	missense	SNP	1.000	C
CHERP	10523	genome.wustl.edu	37	19	16643447	16643447	+	Silent	SNP	C	C	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr19:16643447C>A	ENST00000198939.6	-	5	672	c.636G>T	c.(634-636)ctG>ctT	p.L212L	CHERP_ENST00000546361.2_Silent_p.L212L|CTD-3222D19.2_ENST00000409035.1_Intron					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						AGATGAGGTGCAGCCGCAGCT	0.652																																																	0													51.0	60.0	57.0					19																	16643447		2173	4274	6447	SO:0001819	synonymous_variant	10523			U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.636G>T	19.37:g.16643447C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom	p.L212	ENST00000198939.6	37	c.636		19																																																																																			CHERP	-	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS		0.652	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	CHERP	HGNC	protein_coding	OTTHUMT00000403372.1	C	NM_006387		16643447	-1	no_errors	ENST00000546361	ensembl	human	known	70_37	silent	SNP	1.000	A
CHST15	51363	genome.wustl.edu	37	10	125804148	125804148	+	Missense_Mutation	SNP	C	C	A	rs146440479	byFrequency	TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr10:125804148C>A	ENST00000346248.5	-	3	1476	c.834G>T	c.(832-834)gaG>gaT	p.E278D	CHST15_ENST00000462406.1_5'Flank|CHST15_ENST00000435907.1_Missense_Mutation_p.E278D|CHST15_ENST00000421115.1_Missense_Mutation_p.E278D	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	278					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						AGAACTTGACCTCAGGGTGCA	0.622																																																	0													33.0	36.0	35.0					10																	125804148		2203	4300	6503	SO:0001583	missense	51363			AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.834G>T	10.37:g.125804148C>A	ENSP00000333947:p.Glu278Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	O60338|O60474|Q86VM4	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.E278D	ENST00000346248.5	37	c.834	CCDS7638.1	10	.	.	.	.	.	.	.	.	.	.	C	9.476	1.096789	0.20552	.	.	ENSG00000182022	ENST00000346248;ENST00000435907;ENST00000546346;ENST00000421115	T;T;T	0.49720	0.77;0.77;0.77	5.65	-9.42	0.00610	Sulfotransferase domain (1);	0.056401	0.64402	D	0.000002	T	0.11281	0.0275	N	0.03608	-0.345	0.32349	N	0.55875	B;B	0.20261	0.043;0.001	B;B	0.22152	0.038;0.007	T	0.39165	-0.9627	10	0.02654	T	1	-26.257	2.897	0.05693	0.2593:0.4643:0.1593:0.1172	.	278;278	Q7LFX5-2;Q7LFX5	.;CHSTF_HUMAN	D	278	ENSP00000333947:E278D;ENSP00000402394:E278D;ENSP00000412477:E278D	ENSP00000333947:E278D	E	-	3	2	CHST15	125794138	0.057000	0.20700	0.573000	0.28510	0.967000	0.64934	-0.686000	0.05161	-1.180000	0.02734	0.655000	0.94253	GAG	CHST15	-	pfam_Sulfotransferase_dom		0.622	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST15	HGNC	protein_coding	OTTHUMT00000050856.1	C	NM_015892		125804148	-1	no_errors	ENST00000346248	ensembl	human	known	70_37	missense	SNP	0.580	A
FNTB	2342	genome.wustl.edu	37	14	65494288	65494288	+	Silent	SNP	C	C	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr14:65494288C>A	ENST00000246166.2	+	5	726	c.492C>A	c.(490-492)ggC>ggA	p.G164G	FNTB_ENST00000555742.1_3'UTR|FNTB_ENST00000542227.1_Silent_p.G118G|FNTB_ENST00000447296.2_Silent_p.G198G|MAX_ENST00000341653.2_Intron|CHURC1-FNTB_ENST00000549987.1_Silent_p.G199G	NM_002028.3	NP_002019.1	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	164					negative regulation of cell proliferation (GO:0008285)|phototransduction, visible light (GO:0007603)|positive regulation of cell cycle (GO:0045787)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|protein farnesylation (GO:0018343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to cytokine (GO:0034097)|response to inorganic substance (GO:0010035)|response to organic cyclic compound (GO:0014070)|rhodopsin mediated signaling pathway (GO:0016056)|wound healing (GO:0042060)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	farnesyltranstransferase activity (GO:0004311)|protein farnesyltransferase activity (GO:0004660)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GCATCATTGGCACCGAGGAGG	0.542																																																	0													143.0	118.0	126.0					14																	65494288		2203	4300	6503	SO:0001819	synonymous_variant	100529261				CCDS9769.1	14q23.3	2011-09-28			ENSG00000257365	ENSG00000257365			3785	protein-coding gene	gene with protein product		134636				8276393	Standard	NM_002028		Approved	FPTB		P49356	OTTHUMG00000142811	ENST00000246166.2:c.492C>A	14.37:g.65494288C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDX6|B4E1A0	Silent	SNP	pfam_Prenyltrans,pfam_Transcrpt_activator_Churchill,superfamily_Terpenoid_cyclase/PrenylTrfase	p.G198	ENST00000246166.2	37	c.594	CCDS9769.1	14																																																																																			CHURC1-FNTB	-	pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase		0.542	FNTB-001	KNOWN	basic|CCDS	protein_coding	CHURC1-FNTB	HGNC	protein_coding	OTTHUMT00000286392.1	C	NM_002028		65494288	+1	no_errors	ENST00000447296	ensembl	human	known	70_37	silent	SNP	1.000	A
CLCN1	1180	genome.wustl.edu	37	7	143039071	143039071	+	Silent	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr7:143039071G>T	ENST00000343257.2	+	15	1719	c.1632G>T	c.(1630-1632)gtG>gtT	p.V544V		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	544					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CCACAGCTGTGATTTGCTTCG	0.537																																																	0													186.0	136.0	153.0					7																	143039071		2203	4300	6503	SO:0001819	synonymous_variant	1180			Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.1632G>T	7.37:g.143039071G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2H5|Q2M202	Silent	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl_channel-1	p.V544	ENST00000343257.2	37	c.1632	CCDS5881.1	7																																																																																			CLCN1	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated		0.537	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN1	HGNC	protein_coding	OTTHUMT00000327420.1	G	NM_000083		143039071	+1	no_errors	ENST00000343257	ensembl	human	known	70_37	silent	SNP	1.000	T
CLCN1	1180	genome.wustl.edu	37	7	143039071	143039071	+	Silent	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr7:143039071G>T	ENST00000343257.2	+	15	1719	c.1632G>T	c.(1630-1632)gtG>gtT	p.V544V		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	544					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CCACAGCTGTGATTTGCTTCG	0.537																																																	0													186.0	136.0	153.0					7																	143039071		2203	4300	6503	SO:0001819	synonymous_variant	1180			Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.1632G>T	7.37:g.143039071G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2H5|Q2M202	Silent	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl_channel-1	p.V544	ENST00000343257.2	37	c.1632	CCDS5881.1	7																																																																																			CLCN1	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated		0.537	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN1	HGNC	protein_coding	OTTHUMT00000327420.1	G	NM_000083		143039071	+1	no_errors	ENST00000343257	ensembl	human	known	70_37	silent	SNP	1.000	T
CLEC3B	7123	genome.wustl.edu	37	3	45067904	45067904	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr3:45067904C>G	ENST00000296130.4	+	1	230	c.50C>G	c.(49-51)aCc>aGc	p.T17S	CLEC3B_ENST00000490386.1_Intron	NM_003278.2	NP_003269.2	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	17					bone mineralization (GO:0030282)|cellular response to organic substance (GO:0071310)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ossification (GO:0001503)|positive regulation of plasminogen activation (GO:0010756)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)|kringle domain binding (GO:0036143)			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Tenecteplase(DB00031)	TCCCTCCTGACCCAGGTCACC	0.637																																					GBM(139;1487 3263 30871)												0													51.0	46.0	47.0					3																	45067904		2203	4300	6503	SO:0001583	missense	7123				CCDS2726.1	3p22-p21.3	2010-04-27	2005-02-09	2005-02-09	ENSG00000163815	ENSG00000163815		"""C-type lectin domain containing"""	11891	protein-coding gene	gene with protein product		187520	"""tetranectin (plasminogen binding protein)"""	TNA			Standard	NM_003278		Approved	TN	uc003cok.4	P05452	OTTHUMG00000133087	ENST00000296130.4:c.50C>G	3.37:g.45067904C>G	ENSP00000296130:p.Thr17Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6FGX6	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.T17S	ENST00000296130.4	37	c.50	CCDS2726.1	3	.	.	.	.	.	.	.	.	.	.	C	7.983	0.751616	0.15778	.	.	ENSG00000163815	ENST00000296130	T	0.06068	3.35	4.38	4.38	0.52667	.	0.923786	0.09176	N	0.838193	T	0.05868	0.0153	L	0.27053	0.805	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26710	-1.0095	10	0.09084	T	0.74	-16.63	14.1322	0.65263	0.0:1.0:0.0:0.0	.	17	P05452	TETN_HUMAN	S	17	ENSP00000296130:T17S	ENSP00000296130:T17S	T	+	2	0	CLEC3B	45042908	0.990000	0.36364	0.983000	0.44433	0.870000	0.49936	1.374000	0.34283	2.432000	0.82394	0.585000	0.79938	ACC	CLEC3B	-	NULL		0.637	CLEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC3B	HGNC	protein_coding	OTTHUMT00000256745.1	C	NM_003278		45067904	+1	no_errors	ENST00000296130	ensembl	human	known	70_37	missense	SNP	0.997	G
CLVS1	157807	genome.wustl.edu	37	8	62377357	62377357	+	Intron	SNP	G	G	A	rs555689650		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr8:62377357G>A	ENST00000519846.1	+	6	1449				CLVS1_ENST00000518858.1_3'UTR|CLVS1_ENST00000325897.4_Intron|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1						lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ACGCTTGTCCGGAGATTTCAG	0.547																																																	0																																										SO:0001627	intron_variant	157807			AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.977+6256G>A	8.37:g.62377357G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7M5|C8UZT3|Q8NB32	RNA	SNP	-	NULL	ENST00000519846.1	37	NULL	CCDS6176.1	8																																																																																			CLVS1	-	-		0.547	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLVS1	HGNC	protein_coding	OTTHUMT00000378323.1	G	NM_173519		62377357	+1	no_errors	ENST00000518858	ensembl	human	known	70_37	rna	SNP	0.004	A
CNNM1	26507	genome.wustl.edu	37	10	101090617	101090617	+	Silent	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr10:101090617C>T	ENST00000356713.4	+	1	1762	c.1473C>T	c.(1471-1473)gaC>gaT	p.D491D	CNNM1_ENST00000370534.4_Silent_p.D126D|CNNM1_ENST00000370528.3_Silent_p.D420D|CNNM1_ENST00000446890.1_Silent_p.D420D	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	491	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		ACCCCGACGACTGCACCCCGC	0.562																																																	0													82.0	73.0	76.0					10																	101090617		2203	4300	6503	SO:0001819	synonymous_variant	26507			AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"""cyclin M1"""	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.1473C>T	10.37:g.101090617C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Silent	SNP	pfam_DUF21,pfam_Cysta_beta_synth_core	p.D491	ENST00000356713.4	37	c.1473	CCDS7478.2	10																																																																																			CNNM1	-	NULL		0.562	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNNM1	HGNC	protein_coding	OTTHUMT00000049792.2	C	NM_020348		101090617	+1	no_errors	ENST00000356713	ensembl	human	known	70_37	silent	SNP	1.000	T
CNNM1	26507	genome.wustl.edu	37	10	101090617	101090617	+	Silent	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr10:101090617C>T	ENST00000356713.4	+	1	1762	c.1473C>T	c.(1471-1473)gaC>gaT	p.D491D	CNNM1_ENST00000370534.4_Silent_p.D126D|CNNM1_ENST00000370528.3_Silent_p.D420D|CNNM1_ENST00000446890.1_Silent_p.D420D	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	491	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		ACCCCGACGACTGCACCCCGC	0.562																																																	0													82.0	73.0	76.0					10																	101090617		2203	4300	6503	SO:0001819	synonymous_variant	26507			AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"""cyclin M1"""	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.1473C>T	10.37:g.101090617C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Silent	SNP	pfam_DUF21,pfam_Cysta_beta_synth_core	p.D491	ENST00000356713.4	37	c.1473	CCDS7478.2	10																																																																																			CNNM1	-	NULL		0.562	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNNM1	HGNC	protein_coding	OTTHUMT00000049792.2	C	NM_020348		101090617	+1	no_errors	ENST00000356713	ensembl	human	known	70_37	silent	SNP	1.000	T
COL4A3BP	10087	genome.wustl.edu	37	5	74677813	74677813	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr5:74677813C>T	ENST00000405807.4	-	15	1999	c.1578G>A	c.(1576-1578)tgG>tgA	p.W526*	COL4A3BP_ENST00000261415.7_Nonsense_Mutation_p.W500*|COL4A3BP_ENST00000380494.5_Nonsense_Mutation_p.W654*|COL4A3BP_ENST00000508692.1_5'UTR	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	526	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		TACAAACTATCCAAGTTTCAG	0.383																																																	0													75.0	74.0	74.0					5																	74677813		2203	4300	6503	SO:0001587	stop_gained	10087			AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"""StAR-related lipid transfer (START) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2205	protein-coding gene	gene with protein product	"""ceramide transporter"", ""StAR-related lipid transfer (START) domain containing 11"""	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.1578G>A	5.37:g.74677813C>T	ENSP00000383996:p.Trp526*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Nonsense_Mutation	SNP	pfam_START_lipid-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_START_lipid-bd,pfscan_Pleckstrin_homology,pfscan_START_lipid-bd	p.W654*	ENST00000405807.4	37	c.1962	CCDS4028.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.143815|6.143815	0.97320|0.97320	.|.	.|.	ENSG00000113163|ENSG00000113163	ENST00000508809|ENST00000357457;ENST00000405807;ENST00000380494;ENST00000261415	.|.	.|.	.|.	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	.|0.050458	.|0.85682	.|D	.|0.000000	T|.	0.50120|.	0.1597|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37934|.	-0.9684|.	3|.	.|0.02654	.|T	.|1	-8.6675|-8.6675	20.6396|20.6396	0.99537|0.99537	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	N|X	28|131;526;654;500	.|.	.|ENSP00000261415:W500X	D|W	-|-	1|3	0|0	COL4A3BP|COL4A3BP	74713569|74713569	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.766000|7.766000	0.85320|0.85320	2.881000|2.881000	0.98747|0.98747	0.650000|0.650000	0.86243|0.86243	GAT|TGG	COL4A3BP	-	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd		0.383	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3BP	HGNC	protein_coding	OTTHUMT00000219875.2	C	NM_005713		74677813	-1	no_errors	ENST00000380494	ensembl	human	known	70_37	nonsense	SNP	1.000	T
COL4A3BP	10087	genome.wustl.edu	37	5	74677813	74677813	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr5:74677813C>T	ENST00000405807.4	-	15	1999	c.1578G>A	c.(1576-1578)tgG>tgA	p.W526*	COL4A3BP_ENST00000261415.7_Nonsense_Mutation_p.W500*|COL4A3BP_ENST00000380494.5_Nonsense_Mutation_p.W654*|COL4A3BP_ENST00000508692.1_5'UTR	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	526	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		TACAAACTATCCAAGTTTCAG	0.383																																																	0													75.0	74.0	74.0					5																	74677813		2203	4300	6503	SO:0001587	stop_gained	10087			AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"""StAR-related lipid transfer (START) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2205	protein-coding gene	gene with protein product	"""ceramide transporter"", ""StAR-related lipid transfer (START) domain containing 11"""	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.1578G>A	5.37:g.74677813C>T	ENSP00000383996:p.Trp526*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Nonsense_Mutation	SNP	pfam_START_lipid-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_START_lipid-bd,pfscan_Pleckstrin_homology,pfscan_START_lipid-bd	p.W654*	ENST00000405807.4	37	c.1962	CCDS4028.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.143815|6.143815	0.97320|0.97320	.|.	.|.	ENSG00000113163|ENSG00000113163	ENST00000508809|ENST00000357457;ENST00000405807;ENST00000380494;ENST00000261415	.|.	.|.	.|.	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	.|0.050458	.|0.85682	.|D	.|0.000000	T|.	0.50120|.	0.1597|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37934|.	-0.9684|.	3|.	.|0.02654	.|T	.|1	-8.6675|-8.6675	20.6396|20.6396	0.99537|0.99537	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	N|X	28|131;526;654;500	.|.	.|ENSP00000261415:W500X	D|W	-|-	1|3	0|0	COL4A3BP|COL4A3BP	74713569|74713569	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.766000|7.766000	0.85320|0.85320	2.881000|2.881000	0.98747|0.98747	0.650000|0.650000	0.86243|0.86243	GAT|TGG	COL4A3BP	-	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd		0.383	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3BP	HGNC	protein_coding	OTTHUMT00000219875.2	C	NM_005713		74677813	-1	no_errors	ENST00000380494	ensembl	human	known	70_37	nonsense	SNP	1.000	T
CREB5	9586	genome.wustl.edu	37	7	28843972	28843972	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr7:28843972C>A	ENST00000357727.2	+	8	1249	c.859C>A	c.(859-861)Cat>Aat	p.H287N	CREB5_ENST00000396298.2_Missense_Mutation_p.H148N|CREB5_ENST00000396300.2_Missense_Mutation_p.H280N|CREB5_ENST00000396299.2_Missense_Mutation_p.H254N|CREB5_ENST00000409603.1_Missense_Mutation_p.H254N	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	287					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						actgccaccccatcaccctta	0.602																																																	0													603.0	357.0	440.0					7																	28843972		2203	4300	6503	SO:0001583	missense	9586			L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.859C>A	7.37:g.28843972C>A	ENSP00000350359:p.His287Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Missense_Mutation	SNP	pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP	p.H287N	ENST00000357727.2	37	c.859	CCDS5417.1	7	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073055	0.55646	.	.	ENSG00000146592	ENST00000396299;ENST00000357727;ENST00000396300;ENST00000409603;ENST00000426500;ENST00000396298	T;T;T;T;T	0.64085	-0.05;-0.07;-0.05;-0.05;-0.08	5.48	5.48	0.80851	.	0.058374	0.64402	D	0.000003	T	0.47857	0.1468	N	0.19112	0.55	0.51233	D	0.999915	B;B	0.33266	0.404;0.396	B;B	0.26202	0.067;0.067	T	0.42849	-0.9427	10	0.29301	T	0.29	-13.3514	19.4108	0.94671	0.0:1.0:0.0:0.0	.	148;287	B4DU13;Q02930	.;CREB5_HUMAN	N	254;287;280;254;113;148	ENSP00000379593:H254N;ENSP00000350359:H287N;ENSP00000379594:H280N;ENSP00000387197:H254N;ENSP00000379592:H148N	ENSP00000350359:H287N	H	+	1	0	CREB5	28810497	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.458000	0.80787	2.611000	0.88343	0.478000	0.44815	CAT	CREB5	-	pirsf_TF_cAMP-dep		0.602	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CREB5	HGNC	protein_coding	OTTHUMT00000214204.4	C	NM_004904		28843972	+1	no_errors	ENST00000357727	ensembl	human	known	70_37	missense	SNP	1.000	A
CSPG4	1464	genome.wustl.edu	37	15	75982058	75982058	+	Missense_Mutation	SNP	T	T	A	rs147116973	byFrequency	TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr15:75982058T>A	ENST00000308508.5	-	3	1440	c.1348A>T	c.(1348-1350)Agg>Tgg	p.R450W		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	450	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TGCACATGCCTCCACTCAAGC	0.647																																																	0													53.0	52.0	53.0					15																	75982058		2197	4293	6490	SO:0001583	missense	1464			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1348A>T	15.37:g.75982058T>A	ENSP00000312506:p.Arg450Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DW77|Q92675	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	p.R450W	ENST00000308508.5	37	c.1348	CCDS10284.1	15	.	.	.	.	.	.	.	.	.	.	.	10.03	1.238374	0.22711	.	.	ENSG00000173546	ENST00000308508	T	0.20332	2.08	5.26	3.18	0.36537	.	0.318723	0.26328	N	0.025018	T	0.24044	0.0582	M	0.65498	2.005	0.22330	N	0.999195	D	0.55800	0.973	B	0.43754	0.43	T	0.16541	-1.0399	10	0.87932	D	0	.	9.1439	0.36921	0.0:0.1134:0.5474:0.3393	.	450	Q6UVK1	CSPG4_HUMAN	W	450	ENSP00000312506:R450W	ENSP00000312506:R450W	R	-	1	2	CSPG4	73769113	0.968000	0.33430	0.998000	0.56505	0.385000	0.30292	1.547000	0.36190	1.229000	0.43630	-0.238000	0.12139	AGG	CSPG4	-	NULL		0.647	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG4	HGNC	protein_coding	OTTHUMT00000286472.1	T	NM_001897		75982058	-1	no_errors	ENST00000308508	ensembl	human	known	70_37	missense	SNP	0.228	A
CT47B1	643311	genome.wustl.edu	37	X	120009217	120009217	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chrX:120009217G>A	ENST00000371311.3	-	1	562	c.308C>T	c.(307-309)gCg>gTg	p.A103V		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	103										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GAAGTTGGCCGcctcgttccc	0.687																																																	0													63.0	70.0	68.0					X																	120009217		692	1590	2282	SO:0001583	missense	643311				CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.308C>T	X.37:g.120009217G>A	ENSP00000360360:p.Ala103Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NM97	Missense_Mutation	SNP	NULL	p.A103V	ENST00000371311.3	37	c.308	CCDS48161.1	X	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987553	0.35036	.	.	ENSG00000236446	ENST00000371311	.	.	.	1.17	-1.7	0.08159	.	.	.	.	.	T	0.31451	0.0797	L	0.27053	0.805	0.09310	N	1	D	0.65815	0.995	P	0.56612	0.802	T	0.16217	-1.0410	8	0.72032	D	0.01	.	1.8115	0.03091	0.2573:0.0:0.3762:0.3664	.	103	P0C2W7	CT47B_HUMAN	V	103	.	ENSP00000360360:A103V	A	-	2	0	CT47B1	119893245	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.774000	0.04684	-0.613000	0.05694	0.171000	0.16805	GCG	CT47B1	-	NULL		0.687	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CT47B1	HGNC	protein_coding	OTTHUMT00000058121.1	G	NM_001145718		120009217	-1	no_errors	ENST00000371311	ensembl	human	known	70_37	missense	SNP	0.000	A
DEPDC4	120863	genome.wustl.edu	37	12	100649885	100649885	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr12:100649885G>C	ENST00000416321.1	-	4	822	c.820C>G	c.(820-822)Ctt>Gtt	p.L274V	Y_RNA_ENST00000384063.1_RNA	NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	274					intracellular signal transduction (GO:0035556)					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						GTGATAACAAGATCTTCCTCT	0.323																																																	0													173.0	154.0	160.0					12																	100649885		2203	4298	6501	SO:0001583	missense	120863			AK090824	CCDS9075.1	12q23	2006-03-30				ENSG00000166153			22952	protein-coding gene	gene with protein product						12477932	Standard	XM_005268628		Approved	DEP.4, FLJ33505	uc001thi.3	Q8N2C3		ENST00000416321.1:c.820C>G	12.37:g.100649885G>C	ENSP00000396234:p.Leu274Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q496C8|Q96BW0	Missense_Mutation	SNP	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.L274V	ENST00000416321.1	37	c.820	CCDS9075.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.76|12.76	2.034899|2.034899	0.35893|0.35893	.|.	.|.	ENSG00000166153|ENSG00000166153	ENST00000548313|ENST00000422147;ENST00000378250;ENST00000416321;ENST00000550587;ENST00000549249;ENST00000551642	.|T;T;T;T	.|0.44482	.|0.92;1.26;1.08;0.94	4.82|4.82	2.96|2.96	0.34315|0.34315	.|.	.|0.334869	.|0.27735	.|U	.|0.018068	T|T	0.49372|0.49372	0.1553|0.1553	M|M	0.61703|0.61703	1.905|1.905	0.25595|0.25595	N|N	0.986658|0.986658	.|D;D;B;B	.|0.67145	.|0.996;0.996;0.416;0.416	.|P;P;B;B	.|0.57283	.|0.817;0.817;0.147;0.147	T|T	0.41502|0.41502	-0.9505|-0.9505	5|10	.|0.66056	.|D	.|0.02	.|.	5.1197|5.1197	0.14854|0.14854	0.0838:0.1445:0.6229:0.1489|0.0838:0.1445:0.6229:0.1489	.|.	.|274;274;220;274	.|E9PGM3;A4FU15;Q3ZCN8;Q8N2C3	.|.;.;.;DEPD4_HUMAN	M|V	84|274;220;274;274;220;267	.|ENSP00000396234:L274V;ENSP00000448385:L274V;ENSP00000448338:L220V;ENSP00000449590:L267V	.|ENSP00000367490:L274V	I|L	-|-	3|1	3|0	DEPDC4|DEPDC4	99174016|99174016	0.602000|0.602000	0.26916|0.26916	0.008000|0.008000	0.14137|0.14137	0.496000|0.496000	0.33645|0.33645	0.357000|0.357000	0.20199|0.20199	0.411000|0.411000	0.25702|0.25702	0.514000|0.514000	0.50259|0.50259	ATC|CTT	DEPDC4	-	NULL		0.323	DEPDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEPDC4	HGNC	protein_coding	OTTHUMT00000408482.1	G	NM_152317		100649885	-1	no_errors	ENST00000378244	ensembl	human	known	70_37	missense	SNP	0.952	C
DEPDC4	120863	genome.wustl.edu	37	12	100649885	100649885	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr12:100649885G>C	ENST00000416321.1	-	4	822	c.820C>G	c.(820-822)Ctt>Gtt	p.L274V	Y_RNA_ENST00000384063.1_RNA	NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	274					intracellular signal transduction (GO:0035556)					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						GTGATAACAAGATCTTCCTCT	0.323																																																	0													173.0	154.0	160.0					12																	100649885		2203	4298	6501	SO:0001583	missense	120863			AK090824	CCDS9075.1	12q23	2006-03-30				ENSG00000166153			22952	protein-coding gene	gene with protein product						12477932	Standard	XM_005268628		Approved	DEP.4, FLJ33505	uc001thi.3	Q8N2C3		ENST00000416321.1:c.820C>G	12.37:g.100649885G>C	ENSP00000396234:p.Leu274Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q496C8|Q96BW0	Missense_Mutation	SNP	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.L274V	ENST00000416321.1	37	c.820	CCDS9075.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.76|12.76	2.034899|2.034899	0.35893|0.35893	.|.	.|.	ENSG00000166153|ENSG00000166153	ENST00000548313|ENST00000422147;ENST00000378250;ENST00000416321;ENST00000550587;ENST00000549249;ENST00000551642	.|T;T;T;T	.|0.44482	.|0.92;1.26;1.08;0.94	4.82|4.82	2.96|2.96	0.34315|0.34315	.|.	.|0.334869	.|0.27735	.|U	.|0.018068	T|T	0.49372|0.49372	0.1553|0.1553	M|M	0.61703|0.61703	1.905|1.905	0.25595|0.25595	N|N	0.986658|0.986658	.|D;D;B;B	.|0.67145	.|0.996;0.996;0.416;0.416	.|P;P;B;B	.|0.57283	.|0.817;0.817;0.147;0.147	T|T	0.41502|0.41502	-0.9505|-0.9505	5|10	.|0.66056	.|D	.|0.02	.|.	5.1197|5.1197	0.14854|0.14854	0.0838:0.1445:0.6229:0.1489|0.0838:0.1445:0.6229:0.1489	.|.	.|274;274;220;274	.|E9PGM3;A4FU15;Q3ZCN8;Q8N2C3	.|.;.;.;DEPD4_HUMAN	M|V	84|274;220;274;274;220;267	.|ENSP00000396234:L274V;ENSP00000448385:L274V;ENSP00000448338:L220V;ENSP00000449590:L267V	.|ENSP00000367490:L274V	I|L	-|-	3|1	3|0	DEPDC4|DEPDC4	99174016|99174016	0.602000|0.602000	0.26916|0.26916	0.008000|0.008000	0.14137|0.14137	0.496000|0.496000	0.33645|0.33645	0.357000|0.357000	0.20199|0.20199	0.411000|0.411000	0.25702|0.25702	0.514000|0.514000	0.50259|0.50259	ATC|CTT	DEPDC4	-	NULL		0.323	DEPDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEPDC4	HGNC	protein_coding	OTTHUMT00000408482.1	G	NM_152317		100649885	-1	no_errors	ENST00000378244	ensembl	human	known	70_37	missense	SNP	0.952	C
DESI1	27351	genome.wustl.edu	37	22	41999299	41999299	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr22:41999299G>T	ENST00000263256.6	-	5	633	c.377C>A	c.(376-378)tCt>tAt	p.S126Y	DESI1_ENST00000463886.1_5'UTR	NM_015704.2	NP_056519.1	Q6ICB0	DESI1_HUMAN	desumoylating isopeptidase 1	126	PPPDE peptidase.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)										TGTGATGTAAGAAGGAATCTT	0.512																																																	0													201.0	161.0	175.0					22																	41999299		2203	4300	6503	SO:0001583	missense	27351			AF038183	CCDS33652.1	22q13.2	2012-05-16	2012-05-16	2012-05-16	ENSG00000100418	ENSG00000100418			24577	protein-coding gene	gene with protein product		614637	"""family with sequence similarity 152, member B"", ""PPPDE peptidase domain containing 2"""	FAM152B, PPPDE2		8619474, 9110174, 22370726	Standard	NM_015704		Approved	D15Wsu75e	uc003bam.2	Q6ICB0	OTTHUMG00000044632	ENST00000263256.6:c.377C>A	22.37:g.41999299G>T	ENSP00000263256:p.Ser126Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_DUF862_euk	p.S126Y	ENST00000263256.6	37	c.377	CCDS33652.1	22	.	.	.	.	.	.	.	.	.	.	G	33	5.261842	0.95368	.	.	ENSG00000100418	ENST00000263256	.	.	.	5.8	5.8	0.92144	Domain of unknown function DUF862, eukaryotic (1);	0.048483	0.85682	D	0.000000	D	0.84142	0.5407	M	0.85777	2.775	0.80722	D	1	D	0.65815	0.995	D	0.67103	0.949	D	0.85591	0.1246	9	0.72032	D	0.01	-23.8376	20.0467	0.97609	0.0:0.0:1.0:0.0	.	126	Q6ICB0	PPDE2_HUMAN	Y	126	.	ENSP00000263256:S126Y	S	-	2	0	PPPDE2	40329245	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.903000	0.87398	2.749000	0.94314	0.655000	0.94253	TCT	DESI1	-	pfam_DUF862_euk		0.512	DESI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	DESI1	HGNC	protein_coding	OTTHUMT00000104124.3	G	NM_015704		41999299	-1	no_errors	ENST00000263256	ensembl	human	novel	70_37	missense	SNP	1.000	T
DLG2	1740	genome.wustl.edu	37	11	83252886	83252886	+	Nonsense_Mutation	SNP	G	G	T	rs183726641		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:83252886G>T	ENST00000532653.1	-	15	1943	c.1641C>A	c.(1639-1641)taC>taA	p.Y547*	DLG2_ENST00000398304.1_Nonsense_Mutation_p.Y29*|DLG2_ENST00000404783.3_Nonsense_Mutation_p.Y29*|DLG2_ENST00000330014.6_Nonsense_Mutation_p.Y486*|DLG2_ENST00000531015.1_Nonsense_Mutation_p.Y514*|DLG2_ENST00000524982.1_Nonsense_Mutation_p.Y547*|DLG2_ENST00000376104.2_Nonsense_Mutation_p.Y652*|DLG2_ENST00000418306.2_Nonsense_Mutation_p.Y444*|DLG2_ENST00000376106.3_Nonsense_Mutation_p.Y29*|DLG2_ENST00000543673.1_Nonsense_Mutation_p.Y652*|DLG2_ENST00000537455.1_Nonsense_Mutation_p.Y301*|DLG2_ENST00000280241.8_Nonsense_Mutation_p.Y586*|DLG2_ENST00000426717.2_Nonsense_Mutation_p.Y29*|DLG2_ENST00000530800.1_Nonsense_Mutation_p.Y56*|DLG2_ENST00000398309.2_Nonsense_Mutation_p.Y547*			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	260	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TGCTCTTGTCGTAGTCGAACA	0.438																																																	0													81.0	77.0	78.0					11																	83252886		1957	4183	6140	SO:0001587	stop_gained	1740			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.1641C>A	11.37:g.83252886G>T	ENSP00000435849:p.Tyr547*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Nonsense_Mutation	SNP	pfam_PDZ,pfam_Guanylate_kin,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.Y652*	ENST00000532653.1	37	c.1956		11	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221549	0.79464	.	.	ENSG00000150672	ENST00000398309;ENST00000426717;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000404783;ENST00000330014;ENST00000537455;ENST00000376106;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000420775;ENST00000524601;ENST00000398304;ENST00000530800;ENST00000529399;ENST00000434967	.	.	.	5.43	-1.3	0.09259	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0837	0.48074	0.7342:0.0:0.2658:0.0	.	.	.	.	X	547;29;652;444;652;586;29;486;301;29;547;547;652;514;29;29;29;56;29;58	.	.	Y	-	3	2	DLG2	82930534	0.999000	0.42202	0.992000	0.48379	0.958000	0.62258	0.985000	0.29578	-0.382000	0.07870	-1.044000	0.02363	TAC	DLG2	-	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pirsf_M-assoc_guanylate_kinase,pfscan_SH3_domain		0.438	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	DLG2	HGNC	protein_coding	OTTHUMT00000259253.2	G	NM_001364		83252886	-1	no_errors	ENST00000376104	ensembl	human	known	70_37	nonsense	SNP	0.998	T
DNAH3	55567	genome.wustl.edu	37	16	20996705	20996705	+	Silent	SNP	G	G	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr16:20996705G>A	ENST00000261383.3	-	48	7358	c.7359C>T	c.(7357-7359)taC>taT	p.Y2453Y	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2453	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.Y2453Y(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGTATAGCTCGTATGCGTTCA	0.552																																																	2	Substitution - coding silent(2)	lung(2)											63.0	46.0	52.0					16																	20996705		2201	4300	6501	SO:0001819	synonymous_variant	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.7359C>T	16.37:g.20996705G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.Y2453	ENST00000261383.3	37	c.7359	CCDS10594.1	16																																																																																			DNAH3	-	NULL		0.552	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	G	NM_017539		20996705	-1	no_errors	ENST00000261383	ensembl	human	known	70_37	silent	SNP	0.000	A
DNAH3	55567	genome.wustl.edu	37	16	20996705	20996705	+	Silent	SNP	G	G	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr16:20996705G>A	ENST00000261383.3	-	48	7358	c.7359C>T	c.(7357-7359)taC>taT	p.Y2453Y	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2453	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.Y2453Y(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGTATAGCTCGTATGCGTTCA	0.552																																																	2	Substitution - coding silent(2)	lung(2)											63.0	46.0	52.0					16																	20996705		2201	4300	6501	SO:0001819	synonymous_variant	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.7359C>T	16.37:g.20996705G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.Y2453	ENST00000261383.3	37	c.7359	CCDS10594.1	16																																																																																			DNAH3	-	NULL		0.552	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	G	NM_017539		20996705	-1	no_errors	ENST00000261383	ensembl	human	known	70_37	silent	SNP	0.000	A
DNAH9	1770	genome.wustl.edu	37	17	11593113	11593113	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr17:11593113G>T	ENST00000262442.4	+	20	4042	c.3974G>T	c.(3973-3975)aGg>aTg	p.R1325M	DNAH9_ENST00000454412.2_Missense_Mutation_p.R1325M	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1325	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACACCCTGGAGGAATATCAAC	0.572																																																	0													49.0	43.0	45.0					17																	11593113		2203	4300	6503	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.3974G>T	17.37:g.11593113G>T	ENSP00000262442:p.Arg1325Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.R1325M	ENST00000262442.4	37	c.3974	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408423	0.42715	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.61274	0.12;0.12	5.73	-7.61	0.01299	Dynein heavy chain, domain-2 (1);	0.692596	0.13927	N	0.353171	T	0.61974	0.2390	M	0.77406	2.37	0.26559	N	0.973776	P	0.41947	0.766	P	0.53912	0.737	T	0.61217	-0.7107	10	0.52906	T	0.07	.	7.4696	0.27340	0.5247:0.0:0.2135:0.2619	.	1325	Q9NYC9	DYH9_HUMAN	M	1325	ENSP00000262442:R1325M;ENSP00000414874:R1325M	ENSP00000262442:R1325M	R	+	2	0	DNAH9	11533838	0.102000	0.21896	0.001000	0.08648	0.570000	0.35934	-0.255000	0.08769	-1.621000	0.01562	0.655000	0.94253	AGG	DNAH9	-	pfam_Dynein_heavy_dom-2		0.572	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	G	NM_001372		11593113	+1	no_errors	ENST00000262442	ensembl	human	known	70_37	missense	SNP	0.005	T
DOCK10	55619	genome.wustl.edu	37	2	225637916	225637916	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr2:225637916C>G	ENST00000258390.7	-	53	6229	c.6162G>C	c.(6160-6162)atG>atC	p.M2054I	DOCK10_ENST00000409592.3_Missense_Mutation_p.M2048I	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2054	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GCAGTCTGATCATGTCCACTT	0.458																																																	0													106.0	102.0	104.0					2																	225637916		2179	4277	6456	SO:0001583	missense	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.6162G>C	2.37:g.225637916C>G	ENSP00000258390:p.Met2054Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.M2054I	ENST00000258390.7	37	c.6162	CCDS46528.1	2	.	.	.	.	.	.	.	.	.	.	C	28.1	4.886759	0.91814	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.15372	2.43;2.43	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.36635	0.0974	L	0.53780	1.695	0.58432	D	0.999998	B;P;P	0.46706	0.37;0.785;0.883	B;P;P	0.57548	0.437;0.823;0.771	T	0.01720	-1.1288	10	0.66056	D	0.02	.	19.7096	0.96089	0.0:1.0:0.0:0.0	.	2054;2048;716	Q96BY6;B3FL70;B4DEY4	DOC10_HUMAN;.;.	I	2048;2054;561	ENSP00000386694:M2048I;ENSP00000258390:M2054I	ENSP00000258390:M2054I	M	-	3	0	DOCK10	225346160	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.652000	0.90054	0.655000	0.94253	ATG	DOCK10	-	pfam_DOCK_C,superfamily_ARM-type_fold		0.458	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	HGNC	protein_coding	OTTHUMT00000331246.1	C			225637916	-1	no_errors	ENST00000258390	ensembl	human	known	70_37	missense	SNP	1.000	G
DOCK10	55619	genome.wustl.edu	37	2	225637916	225637916	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr2:225637916C>G	ENST00000258390.7	-	53	6229	c.6162G>C	c.(6160-6162)atG>atC	p.M2054I	DOCK10_ENST00000409592.3_Missense_Mutation_p.M2048I	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2054	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GCAGTCTGATCATGTCCACTT	0.458																																																	0													106.0	102.0	104.0					2																	225637916		2179	4277	6456	SO:0001583	missense	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.6162G>C	2.37:g.225637916C>G	ENSP00000258390:p.Met2054Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.M2054I	ENST00000258390.7	37	c.6162	CCDS46528.1	2	.	.	.	.	.	.	.	.	.	.	C	28.1	4.886759	0.91814	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.15372	2.43;2.43	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.36635	0.0974	L	0.53780	1.695	0.58432	D	0.999998	B;P;P	0.46706	0.37;0.785;0.883	B;P;P	0.57548	0.437;0.823;0.771	T	0.01720	-1.1288	10	0.66056	D	0.02	.	19.7096	0.96089	0.0:1.0:0.0:0.0	.	2054;2048;716	Q96BY6;B3FL70;B4DEY4	DOC10_HUMAN;.;.	I	2048;2054;561	ENSP00000386694:M2048I;ENSP00000258390:M2054I	ENSP00000258390:M2054I	M	-	3	0	DOCK10	225346160	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.652000	0.90054	0.655000	0.94253	ATG	DOCK10	-	pfam_DOCK_C,superfamily_ARM-type_fold		0.458	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	HGNC	protein_coding	OTTHUMT00000331246.1	C			225637916	-1	no_errors	ENST00000258390	ensembl	human	known	70_37	missense	SNP	1.000	G
DOPEY2	9980	genome.wustl.edu	37	21	37664501	37664501	+	Missense_Mutation	SNP	G	G	C	rs9978057	byFrequency	TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr21:37664501G>C	ENST00000399151.3	+	36	6700	c.6615G>C	c.(6613-6615)agG>agC	p.R2205S		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	2205					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)		p.R2205R(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ACACTGTCAGGATTCTAGAAC	0.428																																																	1	Substitution - coding silent(1)	stomach(1)											86.0	86.0	86.0					21																	37664501		2203	4300	6503	SO:0001583	missense	9980			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.6615G>C	21.37:g.37664501G>C	ENSP00000382104:p.Arg2205Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	pfam_Dopey_N	p.R2205S	ENST00000399151.3	37	c.6615	CCDS13643.1	21	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484591	0.63962	.	.	ENSG00000142197	ENST00000399151	T	0.44881	0.91	4.75	3.85	0.44370	.	0.173042	0.50627	D	0.000111	T	0.52289	0.1725	M	0.85041	2.73	0.43761	D	0.996277	P;P	0.44521	0.837;0.749	P;B	0.49999	0.628;0.424	T	0.58629	-0.7603	10	0.66056	D	0.02	.	5.0181	0.14347	0.3054:0.0:0.6946:0.0	.	2198;2205	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	S	2205	ENSP00000382104:R2205S	ENSP00000382104:R2205S	R	+	3	2	DOPEY2	36586371	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	1.953000	0.40352	2.356000	0.79943	0.655000	0.94253	AGG	DOPEY2	-	NULL		0.428	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	HGNC	protein_coding	OTTHUMT00000194636.1	G	NM_005128		37664501	+1	no_errors	ENST00000399151	ensembl	human	known	70_37	missense	SNP	0.999	C
DOPEY2	9980	genome.wustl.edu	37	21	37664501	37664501	+	Missense_Mutation	SNP	G	G	C	rs9978057	byFrequency	TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr21:37664501G>C	ENST00000399151.3	+	36	6700	c.6615G>C	c.(6613-6615)agG>agC	p.R2205S		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	2205					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)		p.R2205R(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ACACTGTCAGGATTCTAGAAC	0.428																																																	1	Substitution - coding silent(1)	stomach(1)											86.0	86.0	86.0					21																	37664501		2203	4300	6503	SO:0001583	missense	9980			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.6615G>C	21.37:g.37664501G>C	ENSP00000382104:p.Arg2205Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	pfam_Dopey_N	p.R2205S	ENST00000399151.3	37	c.6615	CCDS13643.1	21	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484591	0.63962	.	.	ENSG00000142197	ENST00000399151	T	0.44881	0.91	4.75	3.85	0.44370	.	0.173042	0.50627	D	0.000111	T	0.52289	0.1725	M	0.85041	2.73	0.43761	D	0.996277	P;P	0.44521	0.837;0.749	P;B	0.49999	0.628;0.424	T	0.58629	-0.7603	10	0.66056	D	0.02	.	5.0181	0.14347	0.3054:0.0:0.6946:0.0	.	2198;2205	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	S	2205	ENSP00000382104:R2205S	ENSP00000382104:R2205S	R	+	3	2	DOPEY2	36586371	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	1.953000	0.40352	2.356000	0.79943	0.655000	0.94253	AGG	DOPEY2	-	NULL		0.428	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	HGNC	protein_coding	OTTHUMT00000194636.1	G	NM_005128		37664501	+1	no_errors	ENST00000399151	ensembl	human	known	70_37	missense	SNP	0.999	C
DST	667	genome.wustl.edu	37	6	56458919	56458919	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr6:56458919C>G	ENST00000361203.3	-	44	11642	c.11635G>C	c.(11635-11637)Gag>Cag	p.E3879Q	DST_ENST00000421834.2_Missense_Mutation_p.E1793Q|DST_ENST00000244364.6_Missense_Mutation_p.E1467Q|DST_ENST00000370754.5_Missense_Mutation_p.E4059Q|DST_ENST00000370769.4_Missense_Mutation_p.E3881Q|DST_ENST00000446842.2_Missense_Mutation_p.E3555Q|DST_ENST00000312431.6_Missense_Mutation_p.E3879Q|DST_ENST00000370788.2_Missense_Mutation_p.E1793Q			Q03001	DYST_HUMAN	dystonin	3879					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCCTGTTTCTCAAGCAACACT	0.423																																																	0													149.0	137.0	141.0					6																	56458919		1951	4150	6101	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.11635G>C	6.37:g.56458919C>G	ENSP00000354508:p.Glu3879Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.E4059Q	ENST00000361203.3	37	c.12175		6	.	.	.	.	.	.	.	.	.	.	C	16.55	3.155825	0.57259	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203	T;T;T;T;T;D;T;T	0.82619	1.34;1.34;1.34;1.34;1.34;-1.63;1.34;1.34	5.55	5.55	0.83447	.	0.000000	0.56097	D	0.000036	D	0.85809	0.5783	M	0.63428	1.95	0.26527	N	0.974326	P;D;P;P;P	0.53312	0.813;0.959;0.933;0.487;0.904	B;P;P;B;P	0.61003	0.398;0.756;0.882;0.193;0.733	T	0.80828	-0.1208	9	0.17832	T	0.49	.	19.8703	0.96847	0.0:1.0:0.0:0.0	.	1793;3881;4059;3879;1467	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	Q	1467;4059;3881;1793;3555;3879;1793;3879	ENSP00000244364:E1467Q;ENSP00000359790:E4059Q;ENSP00000359805:E3881Q;ENSP00000400883:E1793Q;ENSP00000393645:E3555Q;ENSP00000307959:E3879Q;ENSP00000359824:E1793Q;ENSP00000354508:E3879Q	ENSP00000244364:E1467Q	E	-	1	0	DST	56566878	1.000000	0.71417	0.968000	0.41197	0.430000	0.31655	7.416000	0.80143	2.770000	0.95276	0.650000	0.86243	GAG	DST	-	superfamily_ABC_transptrTM_dom_typ1		0.423	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	C	NM_001723		56458919	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	missense	SNP	1.000	G
DST	667	genome.wustl.edu	37	6	56458919	56458919	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr6:56458919C>G	ENST00000361203.3	-	44	11642	c.11635G>C	c.(11635-11637)Gag>Cag	p.E3879Q	DST_ENST00000421834.2_Missense_Mutation_p.E1793Q|DST_ENST00000244364.6_Missense_Mutation_p.E1467Q|DST_ENST00000370754.5_Missense_Mutation_p.E4059Q|DST_ENST00000370769.4_Missense_Mutation_p.E3881Q|DST_ENST00000446842.2_Missense_Mutation_p.E3555Q|DST_ENST00000312431.6_Missense_Mutation_p.E3879Q|DST_ENST00000370788.2_Missense_Mutation_p.E1793Q			Q03001	DYST_HUMAN	dystonin	3879					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCCTGTTTCTCAAGCAACACT	0.423																																																	0													149.0	137.0	141.0					6																	56458919		1951	4150	6101	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.11635G>C	6.37:g.56458919C>G	ENSP00000354508:p.Glu3879Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.E4059Q	ENST00000361203.3	37	c.12175		6	.	.	.	.	.	.	.	.	.	.	C	16.55	3.155825	0.57259	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203	T;T;T;T;T;D;T;T	0.82619	1.34;1.34;1.34;1.34;1.34;-1.63;1.34;1.34	5.55	5.55	0.83447	.	0.000000	0.56097	D	0.000036	D	0.85809	0.5783	M	0.63428	1.95	0.26527	N	0.974326	P;D;P;P;P	0.53312	0.813;0.959;0.933;0.487;0.904	B;P;P;B;P	0.61003	0.398;0.756;0.882;0.193;0.733	T	0.80828	-0.1208	9	0.17832	T	0.49	.	19.8703	0.96847	0.0:1.0:0.0:0.0	.	1793;3881;4059;3879;1467	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	Q	1467;4059;3881;1793;3555;3879;1793;3879	ENSP00000244364:E1467Q;ENSP00000359790:E4059Q;ENSP00000359805:E3881Q;ENSP00000400883:E1793Q;ENSP00000393645:E3555Q;ENSP00000307959:E3879Q;ENSP00000359824:E1793Q;ENSP00000354508:E3879Q	ENSP00000244364:E1467Q	E	-	1	0	DST	56566878	1.000000	0.71417	0.968000	0.41197	0.430000	0.31655	7.416000	0.80143	2.770000	0.95276	0.650000	0.86243	GAG	DST	-	superfamily_ABC_transptrTM_dom_typ1		0.423	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	C	NM_001723		56458919	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	missense	SNP	1.000	G
E2F5	1875	genome.wustl.edu	37	8	86127981	86127981	+	IGR	SNP	G	G	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr8:86127981G>A	ENST00000416274.2	+	0	1728				C8orf59_ENST00000431163.2_Intron|E2F5_ENST00000519128.1_3'UTR|C8orf59_ENST00000458398.2_Intron|C8orf59_ENST00000421308.2_Intron|C8orf59_ENST00000524353.1_Intron|C8orf59_ENST00000518562.1_Intron|C8orf59_ENST00000417663.2_Intron|C8orf59_ENST00000518091.1_Intron	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding						gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						ataataaactggtaaaagtat	0.458																																																	0																																										SO:0001628	intergenic_variant	1875			X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785		8.37:g.86127981G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PBN9|Q16601|Q92756	RNA	SNP	-	NULL	ENST00000416274.2	37	NULL	CCDS47885.1	8																																																																																			E2F5	-	-		0.458	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	E2F5	HGNC	protein_coding	OTTHUMT00000380274.1	G	NM_001951		86127981	+1	no_errors	ENST00000519128	ensembl	human	known	70_37	rna	SNP	0.151	A
EIF4ENIF1	56478	genome.wustl.edu	37	22	31859712	31859712	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr22:31859712C>G	ENST00000397525.1	-	5	763	c.540G>C	c.(538-540)ttG>ttC	p.L180F	RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000344710.5_Intron|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.L180F|RP11-247I13.8_ENST00000439588.1_RNA|RP11-247I13.11_ENST00000483736.1_RNA|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.L180F	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	180	Arg-rich.					cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTCTGTCTCTCAAGTCCCGCA	0.463																																																	0													67.0	68.0	67.0					22																	31859712		2203	4300	6503	SO:0001583	missense	56478			AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.540G>C	22.37:g.31859712C>G	ENSP00000380659:p.Leu180Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	pfam_eIF4E_transporter	p.L180F	ENST00000397525.1	37	c.540	CCDS13898.1	22	.	.	.	.	.	.	.	.	.	.	C	13.29	2.193654	0.38707	.	.	ENSG00000184708	ENST00000397525;ENST00000330125;ENST00000397523;ENST00000420671;ENST00000423097	.	.	.	5.33	3.03	0.35002	.	0.421858	0.20159	N	0.098000	T	0.36908	0.0984	L	0.29908	0.895	0.80722	D	1	B	0.33919	0.432	B	0.39119	0.291	T	0.06716	-1.0811	9	0.12103	T	0.63	-3.3595	6.4112	0.21692	0.0:0.6077:0.207:0.1853	.	180	Q9NRA8	4ET_HUMAN	F	180	.	ENSP00000328103:L180F	L	-	3	2	EIF4ENIF1	30189712	0.048000	0.20356	1.000000	0.80357	0.983000	0.72400	-0.310000	0.08135	1.399000	0.46721	0.557000	0.71058	TTG	EIF4ENIF1	-	pfam_eIF4E_transporter		0.463	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4ENIF1	HGNC	protein_coding	OTTHUMT00000127926.1	C	NM_019843		31859712	-1	no_errors	ENST00000330125	ensembl	human	known	70_37	missense	SNP	0.998	G
EIF4ENIF1	56478	genome.wustl.edu	37	22	31859712	31859712	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr22:31859712C>G	ENST00000397525.1	-	5	763	c.540G>C	c.(538-540)ttG>ttC	p.L180F	RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000344710.5_Intron|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.L180F|RP11-247I13.8_ENST00000439588.1_RNA|RP11-247I13.11_ENST00000483736.1_RNA|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.L180F	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	180	Arg-rich.					cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTCTGTCTCTCAAGTCCCGCA	0.463																																																	0													67.0	68.0	67.0					22																	31859712		2203	4300	6503	SO:0001583	missense	56478			AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.540G>C	22.37:g.31859712C>G	ENSP00000380659:p.Leu180Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	pfam_eIF4E_transporter	p.L180F	ENST00000397525.1	37	c.540	CCDS13898.1	22	.	.	.	.	.	.	.	.	.	.	C	13.29	2.193654	0.38707	.	.	ENSG00000184708	ENST00000397525;ENST00000330125;ENST00000397523;ENST00000420671;ENST00000423097	.	.	.	5.33	3.03	0.35002	.	0.421858	0.20159	N	0.098000	T	0.36908	0.0984	L	0.29908	0.895	0.80722	D	1	B	0.33919	0.432	B	0.39119	0.291	T	0.06716	-1.0811	9	0.12103	T	0.63	-3.3595	6.4112	0.21692	0.0:0.6077:0.207:0.1853	.	180	Q9NRA8	4ET_HUMAN	F	180	.	ENSP00000328103:L180F	L	-	3	2	EIF4ENIF1	30189712	0.048000	0.20356	1.000000	0.80357	0.983000	0.72400	-0.310000	0.08135	1.399000	0.46721	0.557000	0.71058	TTG	EIF4ENIF1	-	pfam_eIF4E_transporter		0.463	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4ENIF1	HGNC	protein_coding	OTTHUMT00000127926.1	C	NM_019843		31859712	-1	no_errors	ENST00000330125	ensembl	human	known	70_37	missense	SNP	0.998	G
LINC00943	100507206	genome.wustl.edu	37	12	127211217	127211217	+	IGR	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr12:127211217C>T								RP11-407A16.7 (30839 upstream) : LINC00944 (3115 downstream)																							CGGAGTCGGACGGCGACGGTG	0.706																																																	0																																										SO:0001628	intergenic_variant	0																															12.37:g.127211217C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		12																																																																																			RP11-173C20.1	-	-	0	0.706					ENSG00000189238	Clone_based_vega_gene			C			127211217	+1	no_errors	ENST00000539315	ensembl	human	known	70_37	rna	SNP	0.002	T
PSMD11	5717	genome.wustl.edu	37	17	30790491	30790491	+	Intron	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr17:30790491C>T	ENST00000261712.3	+	4	581				PSMD11_ENST00000457654.2_Intron|Y_RNA_ENST00000365230.1_RNA	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome assembly (GO:0043248)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stem cell differentiation (GO:0048863)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			tcattaccttcagaccagcTT	0.393																																					Ovarian(130;1038 1716 9294 11987 19279)												0																																										SO:0001627	intron_variant	0			AB003102	CCDS11272.1	17q12	2008-05-22			ENSG00000108671	ENSG00000108671		"""Proteasome (prosome, macropain) subunits"""	9556	protein-coding gene	gene with protein product		604449				9426256, 9119060	Standard	NM_001270482		Approved	S9, p44.5, MGC3844, Rpn6	uc010cta.2	O00231	OTTHUMG00000132811	ENST00000261712.3:c.319-576C>T	17.37:g.30790491C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3I7|E1P663|O00495|Q53FT5	RNA	SNP	-	NULL	ENST00000261712.3	37	NULL	CCDS11272.1	17																																																																																			Y_RNA	-	-		0.393	PSMD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000202100	RFAM	protein_coding	OTTHUMT00000256252.2	C	NM_002815		30790491	-1	no_errors	ENST00000365230	ensembl	human	novel	70_37	rna	SNP	0.000	T
RP11-247A12.2	0	genome.wustl.edu	37	9	131971882	131971882	+	RNA	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr9:131971882G>T	ENST00000372490.3	+	0	1102				RP11-247A12.2_ENST00000451229.1_RNA																							ctcacactatggagtccacag	0.532																																																	0																																												0																															9.37:g.131971882G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000372490.3	37	NULL		9																																																																																			RP11-247A12.2	-	-		0.532	RP11-247A12.2-001	KNOWN	basic	antisense	ENSG00000204055	Clone_based_vega_gene	antisense	OTTHUMT00000106416.1	G			131971882	+1	no_errors	ENST00000372490	ensembl	human	known	70_37	rna	SNP	0.000	T
FLJ35934	400579	genome.wustl.edu	37	17	18319135	18319135	+	lincRNA	SNP	C	C	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr17:18319135C>A	ENST00000577684.1	+	0	3742																											GATTGTATCCCCTTCCAATTA	0.343																																																	0																																												0																															17.37:g.18319135C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000577684.1	37	NULL		17																																																																																			AL353997.3	-	-		0.343	RP1-37N7.3-001	KNOWN	basic	lincRNA	ENSG00000205266	Clone_based_vega_gene	lincRNA	OTTHUMT00000447480.1	C			18319135	+1	no_errors	ENST00000445433	ensembl	human	known	70_37	rna	SNP	0.000	A
AP000525.9	0	genome.wustl.edu	37	22	16149692	16149692	+	RNA	SNP	G	G	T	rs111579785		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr22:16149692G>T	ENST00000447898.1	-	0	2422																											aggctggagtgcagtagcacg	0.438																																																	0																																												0																															22.37:g.16149692G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000447898.1	37	NULL		22																																																																																			AP000525.8	-	-		0.438	AP000525.9-002	KNOWN	basic	lincRNA	ENSG00000206195	Clone_based_vega_gene	processed_transcript	OTTHUMT00000276780.1	G			16149692	-1	no_errors	ENST00000447898	ensembl	human	known	70_37	rna	SNP	0.144	T
U3	0	genome.wustl.edu	37	10	43912788	43912788	+	RNA	SNP	C	C	G			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr10:43912788C>G	ENST00000408473.1	-	0	100																											gcttcacactcaggagaaaac	0.507																																																	0																																												0																															10.37:g.43912788C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000408473.1	37	NULL		10																																																																																			U3	-	-		0.507	U3.46-201	NOVEL	basic	snoRNA	ENSG00000221400	RFAM	snoRNA		C			43912788	-1	no_errors	ENST00000408473	ensembl	human	novel	70_37	rna	SNP	0.162	G
RORB	6096	genome.wustl.edu	37	9	77113233	77113233	+	Intron	SNP	G	G	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr9:77113233G>A	ENST00000376896.3	+	1	619				RP11-171A24.3_ENST00000417576.2_RNA	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B						amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	GGAGAAAGCCGAAAGAGGGAT	0.652																																																	0																																										SO:0001627	intron_variant	0			Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"""Nuclear hormone receptors"""	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000376896.3:c.7+334G>A	9.37:g.77113233G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WX73	RNA	SNP	-	NULL	ENST00000376896.3	37	NULL	CCDS6646.1	9																																																																																			RP11-171A24.3	-	-		0.652	RORB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000224825	Clone_based_vega_gene	protein_coding	OTTHUMT00000052692.2	G			77113233	-1	no_errors	ENST00000417576	ensembl	human	known	70_37	rna	SNP	0.000	A
AC012354.6	0	genome.wustl.edu	37	2	45193950	45193950	+	lincRNA	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr2:45193950C>T	ENST00000425325.2	+	0	734																											ACTATCAAGGCGGAGTGCTTT	0.403																																																	0																																												0																															2.37:g.45193950C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000425325.2	37	NULL		2																																																																																			AC012354.6	-	-		0.403	AC012354.6-001	KNOWN	basic	lincRNA	ENSG00000225156	Clone_based_vega_gene	lincRNA	OTTHUMT00000326189.2	C			45193950	+1	no_errors	ENST00000425325	ensembl	human	known	70_37	rna	SNP	0.000	T
LINC01537	101928555	genome.wustl.edu	37	11	72283564	72283564	+	lincRNA	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:72283564G>T	ENST00000450804.3	+	0	1741																											atttggttcagaaaggcagaa	0.388																																																	0																																												0																															11.37:g.72283564G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000450804.3	37	NULL		11																																																																																			RP11-169D4.1	-	-		0.388	RP11-169D4.1-001	KNOWN	basic	lincRNA	ENSG00000227467	Clone_based_vega_gene	lincRNA	OTTHUMT00000397107.1	G			72283564	+1	no_errors	ENST00000450804	ensembl	human	known	70_37	rna	SNP	0.057	T
GS1-124K5.11	493754	genome.wustl.edu	37	7	66006483	66006483	+	lincRNA	SNP	T	T	C			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr7:66006483T>C	ENST00000449307.3	-	0	1053																											AAGGGTGACCTTGATCCTTCC	0.562																																																	0																																												0																															7.37:g.66006483T>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000449307.3	37	NULL		7																																																																																			GS1-124K5.11	-	-		0.562	GS1-124K5.11-001	KNOWN	basic	lincRNA	ENSG00000229180	Clone_based_vega_gene	lincRNA	OTTHUMT00000345605.3	T			66006483	-1	no_errors	ENST00000449307	ensembl	human	known	70_37	rna	SNP	0.001	C
LINC01362	103283057	genome.wustl.edu	37	1	83369386	83369386	+	lincRNA	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr1:83369386G>T	ENST00000452901.1	+	0	521																											ATTTAAATGAGGTTTAAAATT	0.333																																																	0																																												0																															1.37:g.83369386G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000452901.1	37	NULL		1																																																																																			RP4-601K24.1	-	-		0.333	RP4-601K24.1-001	KNOWN	non_canonical_polymorphism|basic	lincRNA	ENSG00000230817	Clone_based_vega_gene	lincRNA	OTTHUMT00000026937.1	G			83369386	+1	no_errors	ENST00000452901	ensembl	human	known	70_37	rna	SNP	0.000	T
MIRLET7BHG	400931	genome.wustl.edu	37	22	46453727	46453727	+	Intron	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr22:46453727G>T	ENST00000381051.2	+	1	52				RP6-109B7.2_ENST00000439423.1_lincRNA|RP6-109B7.3_ENST00000416202.1_RNA|RP6-109B7.3_ENST00000451166.1_RNA|RP6-109B7.3_ENST00000445441.1_RNA																							TTTCTTCCAAGGAGAAGGAGT	0.522																																																	0																																										SO:0001627	intron_variant	0																														ENST00000381051.2:c.-2+3927G>T	22.37:g.46453727G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000381051.2	37	NULL		22																																																																																			RP6-109B7.2	-	-		0.522	FLJ27365-003	PUTATIVE	basic|appris_candidate_longest	protein_coding	ENSG00000231010	Clone_based_vega_gene	protein_coding	OTTHUMT00000316783.1	G			46453727	-1	no_errors	ENST00000439423	ensembl	human	known	70_37	rna	SNP	0.057	T
ARHGAP29	9411	genome.wustl.edu	37	1	94713493	94713493	+	lincRNA	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr1:94713493G>T	ENST00000413103.1	+	0	30																											TCGCCCTTTTGACTTGCAGCA	0.617																																																	0																																												0																															1.37:g.94713493G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000413103.1	37	NULL		1																																																																																			RP11-148B18.1	-	-		0.617	RP11-148B18.1-001	KNOWN	basic|exp_conf	lincRNA	ENSG00000231363	Clone_based_vega_gene	lincRNA	OTTHUMT00000029383.1	G			94713493	+1	no_errors	ENST00000413103	ensembl	human	known	70_37	rna	SNP	0.001	T
AC020743.3	0	genome.wustl.edu	37	7	50242183	50242183	+	lincRNA	SNP	G	G	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr7:50242183G>A	ENST00000457592.1	-	0	459																											gTTCCCTGAAGAGTGTGGCCT	0.522																																																	0																																												0																															7.37:g.50242183G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000457592.1	37	NULL		7																																																																																			AC020743.3	-	-		0.522	AC020743.3-001	KNOWN	basic	lincRNA	ENSG00000231681	Clone_based_vega_gene	lincRNA	OTTHUMT00000342123.1	G			50242183	-1	no_errors	ENST00000457592	ensembl	human	known	70_37	rna	SNP	0.000	A
LINC01198	101929344	genome.wustl.edu	37	13	47032630	47032630	+	lincRNA	SNP	C	C	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr13:47032630C>A	ENST00000595532.1	-	0	690																											cttagcacgactggcacttaa	0.328																																																	0																																												0																															13.37:g.47032630C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000595532.1	37	NULL		13																																																																																			RP11-189B4.6	-	-		0.328	RP11-189B4.6-005	KNOWN	basic	lincRNA	ENSG00000231817	Clone_based_vega_gene	lincRNA	OTTHUMT00000462212.1	C			47032630	-1	no_errors	ENST00000595532	ensembl	human	known	70_37	rna	SNP	0.036	A
LINC01198	101929344	genome.wustl.edu	37	13	47032640	47032640	+	lincRNA	SNP	A	A	C			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr13:47032640A>C	ENST00000595532.1	-	0	680																											ctggcacttaaagggctgaaa	0.328																																																	0																																												0																															13.37:g.47032640A>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000595532.1	37	NULL		13																																																																																			RP11-189B4.6	-	-		0.328	RP11-189B4.6-005	KNOWN	basic	lincRNA	ENSG00000231817	Clone_based_vega_gene	lincRNA	OTTHUMT00000462212.1	A			47032640	-1	no_errors	ENST00000595532	ensembl	human	known	70_37	rna	SNP	0.026	C
LOC101929297	101929297	genome.wustl.edu	37	6	166656415	166656415	+	lincRNA	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr6:166656415C>T	ENST00000444219.1	+	0	198																											AAGTCCTCCTCAAGGTGTCCA	0.473																																																	0																																												0																															6.37:g.166656415C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000444219.1	37	NULL		6																																																																																			RP4-655C5.4	-	-		0.473	RP4-655C5.4-001	KNOWN	basic	lincRNA	ENSG00000233365	Clone_based_vega_gene	lincRNA	OTTHUMT00000043045.1	C			166656415	+1	no_errors	ENST00000444219	ensembl	human	known	70_37	rna	SNP	0.001	T
LOC100133286	100133286	genome.wustl.edu	37	21	37480191	37480191	+	lincRNA	SNP	T	T	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr21:37480191T>A	ENST00000422473.1	+	0	539				AP000688.14_ENST00000535199.1_RNA																							CCAGTGCTTATATCCATTACT	0.433																																																	0																																												0																															21.37:g.37480191T>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000422473.1	37	NULL		21																																																																																			AP000688.29	-	-		0.433	AP000688.29-001	KNOWN	basic	lincRNA	ENSG00000233393	Clone_based_vega_gene	lincRNA	OTTHUMT00000331385.1	T			37480191	+1	no_errors	ENST00000422473	ensembl	human	known	70_37	rna	SNP	0.351	A
CTA-929C8.5	0	genome.wustl.edu	37	22	27678528	27678528	+	lincRNA	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr22:27678528G>T	ENST00000449126.1	+	0	219																											GCCCACAACAGGTCAGGAAAC	0.458																																																	0																																												0																															22.37:g.27678528G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000449126.1	37	NULL		22																																																																																			CTA-929C8.5	-	-		0.458	CTA-929C8.5-001	KNOWN	basic|exp_conf	lincRNA	ENSG00000233574	Clone_based_vega_gene	lincRNA	OTTHUMT00000320632.1	G			27678528	+1	no_errors	ENST00000449126	ensembl	human	known	70_37	rna	SNP	0.001	T
RP11-466L17.1	0	genome.wustl.edu	37	1	56197604	56197604	+	lincRNA	SNP	G	G	C			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr1:56197604G>C	ENST00000422374.1	+	0	992																											tgccagttttgagtggggtcc	0.527																																																	0													58.0	58.0	58.0					1																	56197604		692	1591	2283			0																															1.37:g.56197604G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000422374.1	37	NULL		1																																																																																			RP11-466L17.1	-	-		0.527	RP11-466L17.1-001	KNOWN	basic	lincRNA	ENSG00000234810	Clone_based_vega_gene	lincRNA	OTTHUMT00000022603.1	G			56197604	+1	no_errors	ENST00000422374	ensembl	human	known	70_37	rna	SNP	0.050	C
LOC101929374	101929374	genome.wustl.edu	37	22	23776135	23776135	+	lincRNA	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr22:23776135G>T	ENST00000449711.1	+	0	385																											TGTGACGGCTGAGCCCGGGCT	0.697																																																	0																																												0																															22.37:g.23776135G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000449711.1	37	NULL		22																																																																																			AP000344.3	-	-		0.697	AP000344.3-001	KNOWN	mRNA_end_NF|basic|exp_conf	lincRNA	ENSG00000234928	Clone_based_vega_gene	lincRNA	OTTHUMT00000319542.1	G			23776135	+1	no_errors	ENST00000449711	ensembl	human	known	70_37	rna	SNP	0.002	T
AF127577.8	0	genome.wustl.edu	37	21	16290862	16290862	+	RNA	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr21:16290862G>T	ENST00000430391.1	+	0	8																											AGGGTTACTGGACCTCAGATA	0.363																																																	0																																												0																															21.37:g.16290862G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000430391.1	37	NULL		21																																																																																			AF127577.8	-	-		0.363	AF127577.8-001	KNOWN	basic	antisense	ENSG00000235277	Clone_based_vega_gene	antisense	OTTHUMT00000157918.1	G			16290862	+1	no_errors	ENST00000430391	ensembl	human	known	70_37	rna	SNP	0.933	T
LOC101927476	101927476	genome.wustl.edu	37	X	40122191	40122191	+	lincRNA	SNP	G	G	C			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chrX:40122191G>C	ENST00000452690.1	+	0	22																											GGGAGAGTCTGAGATGGGACC	0.557																																																	0																																												0																															X.37:g.40122191G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000452690.1	37	NULL		X																																																																																			RP11-320G24.1	-	-		0.557	RP11-320G24.1-001	KNOWN	basic	lincRNA	ENSG00000236393	Clone_based_vega_gene	lincRNA	OTTHUMT00000080721.1	G			40122191	+1	no_errors	ENST00000452690	ensembl	human	known	70_37	rna	SNP	0.002	C
EIF4ENIF1	56478	genome.wustl.edu	37	22	31833158	31833158	+	IGR	SNP	G	G	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr22:31833158G>A	ENST00000397525.1	-	0	3695				EIF4ENIF1_ENST00000441289.1_5'UTR	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1							cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCTTTGGGAGGGACTATTCTT	0.463																																																	0																																										SO:0001628	intergenic_variant	0			AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793		22.37:g.31833158G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	RNA	SNP	-	NULL	ENST00000397525.1	37	NULL	CCDS13898.1	22																																																																																			RP11-247I13.7	-	-		0.463	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000240529	Clone_based_vega_gene	protein_coding	OTTHUMT00000127926.1	G	NM_019843		31833158	-1	no_errors	ENST00000441289	ensembl	human	putative	70_37	rna	SNP	0.001	A
ATR	545	genome.wustl.edu	37	3	142184164	142184164	+	Intron	DEL	A	A	-	rs78538255		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr3:142184164delA	ENST00000350721.4	-	41	7019				RP11-383G6.3_ENST00000460977.1_RNA|ATR_ENST00000383101.3_Intron	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase						cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TGAGTTATGTAAAAAAAAAAA	0.244								Other conserved DNA damage response genes																																									0																																										SO:0001627	intron_variant	0			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.6898-82T>-	3.37:g.142184164delA		Somatic		WXS	Illumina HiSeq	Phase_IV	Q59HB2|Q7KYL3|Q93051|Q9BXK4	RNA	DEL	-	NULL	ENST00000350721.4	37	NULL	CCDS3124.1	3																																																																																			RP11-383G6.3	-	-		0.244	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000244327	Clone_based_vega_gene	protein_coding	OTTHUMT00000353995.2	A	NM_001184		142184164	-1	no_errors	ENST00000460977	ensembl	human	putative	70_37	rna	DEL	0.001	-
EOGT	285203	genome.wustl.edu	37	3	69066043	69066043	+	5'Flank	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr3:69066043G>T	ENST00000383701.3	-	0	0				CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596659.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA	NM_001278689.1	NP_001265618.1	Q5NDL2	EOGT_HUMAN	EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase						protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)	protein N-acetylglucosaminyltransferase activity (GO:0016262)										CTTTGAAGCTGAAATTTTTGA	0.348																																																	0																																										SO:0001631	upstream_gene_variant	0			AK091089	CCDS2908.1, CCDS63684.1	3p14.1	2013-10-11	2012-05-21	2012-05-21	ENSG00000163378	ENSG00000163378	2.4.1.255		28526	protein-coding gene	gene with protein product	"""AER61 glycosyltransferase"""	614789	"""chromosome 3 open reading frame 64"""	C3orf64		22310717	Standard	NM_001278689		Approved	AER61, FLJ33770	uc003dnk.3	Q5NDL2	OTTHUMG00000156279		3.37:g.69066043G>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2U1|B4DFH5|L7X1M5|Q6MZY0|Q6P985|Q6ZTV0	RNA	SNP	-	NULL	ENST00000383701.3	37	NULL		3																																																																																			CTD-2013N24.2	-	-		0.348	EOGT-002	KNOWN	basic|appris_principal	protein_coding	ENSG00000244513	Clone_based_vega_gene	protein_coding	OTTHUMT00000343722.1	G	NM_173654		69066043	+1	no_errors	ENST00000596659	ensembl	human	known	70_37	rna	SNP	0.000	T
LOC101928288	101928288	genome.wustl.edu	37	4	172214950	172214950	+	lincRNA	SNP	G	G	C			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr4:172214950G>C	ENST00000512241.1	-	0	624																											aatttcaatagagtatttgca	0.303																																																	0																																												0																															4.37:g.172214950G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000512241.1	37	NULL		4																																																																																			RP11-717H13.1	-	-		0.303	RP11-717H13.1-001	KNOWN	basic	lincRNA	ENSG00000248339	Clone_based_vega_gene	lincRNA	OTTHUMT00000366141.2	G			172214950	-1	no_errors	ENST00000512241	ensembl	human	known	70_37	rna	SNP	0.000	C
LOC101928509	101928509	genome.wustl.edu	37	4	175018830	175018830	+	lincRNA	SNP	G	G	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr4:175018830G>A	ENST00000515444.1	-	0	425																											cccagatgaagaagacaggct	0.567																																																	0																																												0																															4.37:g.175018830G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000515444.1	37	NULL		4																																																																																			RP11-148L24.1	-	-		0.567	RP11-148L24.1-001	KNOWN	basic	lincRNA	ENSG00000248174	Clone_based_vega_gene	lincRNA	OTTHUMT00000362083.1	G			175018830	-1	no_errors	ENST00000515444	ensembl	human	known	70_37	rna	SNP	0.311	A
LOC101928858	101928858	genome.wustl.edu	37	5	67093330	67093330	+	lincRNA	SNP	C	C	G			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr5:67093330C>G	ENST00000513234.1	+	0	79				RP11-83M16.6_ENST00000506819.1_lincRNA														p.0?(1)									AGTTACATATCAAGATGTGCG	0.373																																																	1	Whole gene deletion(1)	large_intestine(1)																																										0																															5.37:g.67093330C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000513234.1	37	NULL		5																																																																																			RP11-434D9.1	-	-		0.373	RP11-434D9.1-004	KNOWN	basic	lincRNA	ENSG00000249364	Clone_based_vega_gene	lincRNA	OTTHUMT00000368618.1	C			67093330	+1	no_errors	ENST00000514368	ensembl	human	known	70_37	rna	SNP	0.000	G
RP11-422J15.1	0	genome.wustl.edu	37	4	130710090	130710090	+	lincRNA	SNP	C	C	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr4:130710090C>A	ENST00000513875.1	+	0	119																											CTGATCCTCTCATAATTTACC	0.343																																																	0																																												0																															4.37:g.130710090C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000513875.1	37	NULL		4																																																																																			RP11-422J15.1	-	-		0.343	RP11-422J15.1-001	KNOWN	basic	lincRNA	ENSG00000249618	Clone_based_vega_gene	lincRNA	OTTHUMT00000364127.1	C			130710090	+1	no_errors	ENST00000508724	ensembl	human	known	70_37	rna	SNP	0.994	A
LOC283140	283140	genome.wustl.edu	37	11	112163036	112163037	+	RNA	INS	-	-	TTCC	rs369858232|rs58229261|rs111363840		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:112163036_112163037insTTCC	ENST00000504610.2	+	0	35																											tccttccttctttccttccttc	0.416																																																	0																																												0																															11.37:g.112163041_112163044dupTTCC		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	INS	-	NULL	ENST00000504610.2	37	NULL		11																																																																																			RP11-356J5.12	-	-		0.416	RP11-356J5.12-005	PUTATIVE	basic	processed_transcript	ENSG00000250303	Clone_based_vega_gene	processed_transcript	OTTHUMT00000393660.1	-			112163037	+1	no_errors	ENST00000419895	ensembl	human	putative	70_37	rna	INS	0.000:0.000	TTCC
LOC102724776	102724776	genome.wustl.edu	37	4	156250918	156250918	+	RNA	SNP	G	G	A	rs545408566		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr4:156250918G>A	ENST00000599555.2	+	0	126				AC097467.2_ENST00000595229.1_RNA|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000597955.1_RNA|AC097467.2_ENST00000508191.1_RNA|AC097467.2_ENST00000595760.1_RNA|AC097467.2_ENST00000593387.2_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000597939.1_RNA|AC097467.2_ENST00000512269.1_RNA|AC097467.2_ENST00000610249.1_RNA|AC097467.2_ENST00000609486.1_RNA|AC097467.2_ENST00000602249.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000593486.1_RNA																							GTATTTCACCGAAAAGGCAGA	0.383													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17739	0.0		0.0	False		,,,				2504	0.0																0																																												0																															4.37:g.156250918G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000599555.2	37	NULL		4																																																																																			AC097467.2	-	-		0.383	AC097467.2-013	KNOWN	basic	antisense	ENSG00000250910	Clone_based_vega_gene	antisense	OTTHUMT00000461396.2	G			156250918	+1	no_errors	ENST00000508191	ensembl	human	known	70_37	rna	SNP	0.000	A
ATHL1	80162	genome.wustl.edu	37	11	288797	288797	+	5'Flank	SNP	G	G	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:288797G>A	ENST00000409548.2	+	0	0				ATHL1_ENST00000409655.1_5'Flank|RP11-326C3.2_ENST00000533924.1_RNA|RP11-326C3.2_ENST00000534742.1_RNA|ATHL1_ENST00000409479.1_5'Flank|RP11-326C3.2_ENST00000525217.1_RNA	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)						carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		gggcgacaGCGAGGCGAGGAC	0.791																																																	0																																										SO:0001631	upstream_gene_variant	0			AK090428	CCDS31322.2	11p15.5	2005-10-27			ENSG00000142102	ENSG00000142102			26210	protein-coding gene	gene with protein product							Standard	NM_025092		Approved	FLJ22635	uc010qvu.2	Q32M88	OTTHUMG00000153218		11.37:g.288797G>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	Q658X8|Q8TEG9|Q9H635	RNA	SNP	-	NULL	ENST00000409548.2	37	NULL	CCDS31322.2	11																																																																																			RP11-326C3.2	-	-		0.791	ATHL1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000255026	Clone_based_vega_gene	protein_coding	OTTHUMT00000330164.3	G	NM_025092		288797	+1	no_errors	ENST00000525217	ensembl	human	known	70_37	rna	SNP	0.069	A
LOC101927120	101927120	genome.wustl.edu	37	11	56638636	56638636	+	lincRNA	SNP	C	C	G			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:56638636C>G	ENST00000526436.1	+	0	118																											tttaaggaatcaaacttgact	0.418																																																	0																																												0																															11.37:g.56638636C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000526436.1	37	NULL		11																																																																																			AP000479.1	-	-		0.418	AP000479.1-001	KNOWN	basic	lincRNA	ENSG00000255433	Clone_based_vega_gene	lincRNA	OTTHUMT00000391947.1	C			56638636	+1	no_errors	ENST00000526436	ensembl	human	known	70_37	rna	SNP	0.063	G
KLHL42	57542	genome.wustl.edu	37	12	27953641	27953642	+	3'UTR	INS	-	-	A	rs556688047|rs56800275		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr12:27953641_27953642insA	ENST00000381271.2	+	0	4371_4372				RP11-860B13.3_ENST00000543527.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42						mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											actctgtctccaaaaaaaaaaa	0.45																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"""Kelch-like"""	29252	protein-coding gene	gene with protein product			"""kelch domain containing 5"""	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.*2543->A	12.37:g.27953652_27953652dupA		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2VPK1|Q8N334	RNA	INS	-	NULL	ENST00000381271.2	37	NULL	CCDS31763.1	12																																																																																			RP11-860B13.3	-	-		0.450	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000256512	Clone_based_vega_gene	protein_coding	OTTHUMT00000402904.1	-	NM_020782		27953642	-1	no_errors	ENST00000543527	ensembl	human	known	70_37	rna	INS	0.002:0.003	A
OTX2-AS1	100309464	genome.wustl.edu	37	14	57284369	57284369	+	RNA	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr14:57284369G>T	ENST00000534909.2	+	0	287				OTX2-AS1_ENST00000554428.1_RNA|OTX2-AS1_ENST00000554725.1_RNA|OTX2-AS1_ENST00000554358.1_RNA	NR_029385.1				OTX2 antisense RNA 1 (head to head)																		CCCAGCTAAGGCTCAGACAGC	0.657																																																	0																																												0			BC041486		14q22.3	2012-10-19	2012-10-17		ENSG00000248550	ENSG00000248550		"""Long non-coding RNAs"", ""-"""	43906	non-coding RNA	RNA, long non-coding			"""OTX2 antisense RNA 1 (non-protein coding)"", ""OTX2 antisense RNA 1"""			15703187	Standard	NR_029385		Approved	OTX2OS1	uc001xcr.3		OTTHUMG00000171304		14.37:g.57284369G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000534909.2	37	NULL		14																																																																																			RP11-1085N6.5	-	-		0.657	OTX2-AS1-001	KNOWN	basic	antisense	ENSG00000258776	Clone_based_vega_gene	antisense	OTTHUMT00000412893.1	G	NR_029385		57284369	-1	no_errors	ENST00000554149	ensembl	human	known	70_37	rna	SNP	0.011	T
CTD-2644I21.1	0	genome.wustl.edu	37	14	101054163	101054163	+	RNA	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr14:101054163C>T	ENST00000554540.1	-	0	414																											tattagacacctagtgtgtac	0.507																																																	0																																												0																															14.37:g.101054163C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000554540.1	37	NULL		14																																																																																			CTD-2644I21.1	-	-		0.507	CTD-2644I21.1-001	KNOWN	basic	sense_overlapping	ENSG00000258576	Clone_based_vega_gene	sense_overlapping	OTTHUMT00000414339.1	C			101054163	-1	no_errors	ENST00000554540	ensembl	human	known	70_37	rna	SNP	0.023	T
LOC101927650	101927650	genome.wustl.edu	37	16	65210098	65210098	+	lincRNA	SNP	C	C	G			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr16:65210098C>G	ENST00000563754.1	-	0	124																											tgtgccatctcttcatctgta	0.418																																																	0																																												0																															16.37:g.65210098C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000563754.1	37	NULL		16																																																																																			RP11-95H3.1	-	-		0.418	RP11-95H3.1-001	KNOWN	basic	lincRNA	ENSG00000259847	Clone_based_vega_gene	lincRNA	OTTHUMT00000420596.2	C			65210098	-1	no_errors	ENST00000562742	ensembl	human	known	70_37	rna	SNP	0.000	G
RP11-95H11.1	0	genome.wustl.edu	37	2	207686885	207686885	+	lincRNA	SNP	C	C	A	rs535036042		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr2:207686885C>A	ENST00000561915.1	-	0	133																											gctttgatgccgatgctgtca	0.443																																																	0																																												0																															2.37:g.207686885C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000561915.1	37	NULL		2																																																																																			RP11-95H11.1	-	-		0.443	RP11-95H11.1-001	KNOWN	basic	lincRNA	ENSG00000260171	Clone_based_vega_gene	lincRNA	OTTHUMT00000431722.1	C			207686885	-1	no_errors	ENST00000561915	ensembl	human	known	70_37	rna	SNP	0.000	A
RP11-416I2.1	0	genome.wustl.edu	37	17	16917055	16917055	+	lincRNA	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr17:16917055G>T	ENST00000562897.1	-	0	1249																											AGCAATCCTCGCTGGGCCTCa	0.527																																																	0																																												0																															17.37:g.16917055G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000562897.1	37	NULL		17																																																																																			RP11-416I2.1	-	-		0.527	RP11-416I2.1-001	KNOWN	basic	lincRNA	ENSG00000260328	Clone_based_vega_gene	lincRNA	OTTHUMT00000431329.1	G			16917055	-1	no_errors	ENST00000562897	ensembl	human	known	70_37	rna	SNP	0.000	T
RP11-1081M5.2	0	genome.wustl.edu	37	8	54301384	54301384	+	lincRNA	SNP	G	G	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr8:54301384G>A	ENST00000566892.1	-	0	2048																											GCAATTTGCTGAACGATTTGG	0.398																																																	0																																												0																															8.37:g.54301384G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000566892.1	37	NULL		8																																																																																			RP11-1081M5.2	-	-		0.398	RP11-1081M5.2-001	KNOWN	basic	lincRNA	ENSG00000260484	Clone_based_vega_gene	lincRNA	OTTHUMT00000426660.1	G			54301384	-1	no_errors	ENST00000566892	ensembl	human	known	70_37	rna	SNP	0.001	A
HERC2P4	100289574	genome.wustl.edu	37	16	32144020	32144020	+	IGR	SNP	T	T	C	rs368772438		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr16:32144020T>C								RP11-1166P10.6 (47914 upstream) : HERC2P4 (37284 downstream)																							tacacacacatacatgcatac	0.279																																																	0																																										SO:0001628	intergenic_variant	0																															16.37:g.32144020T>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		16																																																																																			RP11-1166P10.9	-	-	0	0.279					ENSG00000260544	Clone_based_vega_gene			T			32144020	+1	no_errors	ENST00000568083	ensembl	human	known	70_37	rna	SNP	0.003	C
RP11-744D14.2	0	genome.wustl.edu	37	16	64189636	64189636	+	lincRNA	SNP	C	C	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr16:64189636C>A	ENST00000565257.1	+	0	564																											GCACAAAACTCTTCCAATTCC	0.388																																																	0																																												0																															16.37:g.64189636C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000565257.1	37	NULL		16																																																																																			RP11-744D14.2	-	-		0.388	RP11-744D14.2-001	KNOWN	basic	lincRNA	ENSG00000260715	Clone_based_vega_gene	lincRNA	OTTHUMT00000431042.1	C			64189636	+1	no_errors	ENST00000565257	ensembl	human	known	70_37	rna	SNP	0.000	A
RP11-394I13.1	0	genome.wustl.edu	37	2	174891563	174891563	+	lincRNA	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr2:174891563G>T	ENST00000563759.1	+	0	1556																											CGCACCTGGAGAAATTCACTG	0.552																																																	0																																												0																															2.37:g.174891563G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000563759.1	37	NULL		2																																																																																			RP11-394I13.1	-	-		0.552	RP11-394I13.1-001	KNOWN	basic	lincRNA	ENSG00000260868	Clone_based_vega_gene	lincRNA	OTTHUMT00000431692.1	G			174891563	+1	no_errors	ENST00000563759	ensembl	human	known	70_37	rna	SNP	0.001	T
CLEC18B	497190	genome.wustl.edu	37	16	74456050	74456050	+	5'Flank	SNP	C	C	T	rs371462069		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr16:74456050C>T	ENST00000339953.5	-	0	0				RP11-252A24.5_ENST00000566506.1_RNA|RP11-252A24.5_ENST00000567148.1_RNA	NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B							extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GTGGGCAGCACGTTGCCATGA	0.617																																																	0																																										SO:0001631	upstream_gene_variant	0			AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"""C-type lectin domain containing"""	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7			16.37:g.74456050C>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DF90	RNA	SNP	-	NULL	ENST00000339953.5	37	NULL	CCDS32484.1	16																																																																																			RP11-252A24.5	-	-		0.617	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000261170	Clone_based_vega_gene	protein_coding	OTTHUMT00000434697.1	C	NM_001011880		74456050	+1	no_errors	ENST00000566506	ensembl	human	putative	70_37	rna	SNP	0.000	T
RP4-714D9.5	0	genome.wustl.edu	37	1	100497373	100497373	+	RNA	SNP	C	C	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr1:100497373C>A	ENST00000564623.1	+	0	1252																											ctcctttggtctTGAAGTCCC	0.388																																																	0																																												0																															1.37:g.100497373C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000564623.1	37	NULL		1																																																																																			RP4-714D9.5	-	-		0.388	RP4-714D9.5-001	KNOWN	basic	sense_overlapping	ENSG00000261254	Clone_based_vega_gene	sense_overlapping	OTTHUMT00000431239.1	C			100497373	+1	no_errors	ENST00000564623	ensembl	human	known	70_37	rna	SNP	0.149	A
NTN1	9423	genome.wustl.edu	37	17	9077214	9077214	+	Intron	SNP	G	G	C			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr17:9077214G>C	ENST00000173229.2	+	4	1314				NTN1_ENST00000538852.1_Intron|RP11-85B7.2_ENST00000574307.2_RNA|NTN1_ENST00000546090.1_Intron	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1						anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|establishment of nucleus localization (GO:0040023)|inner ear morphogenesis (GO:0042472)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of axon extension (GO:0030517)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of cell proliferation (GO:0008284)|regulation of cell migration (GO:0030334)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)			NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						TTTCCCATCAGACTTTGGGAG	0.552																																																	0																																										SO:0001627	intron_variant	0			U75586	CCDS11148.1	17p13-p12	2013-03-01			ENSG00000065320	ENSG00000065320		"""Netrins"""	8029	protein-coding gene	gene with protein product	"""Netrin-1"""	601614				9950216	Standard	NM_004822		Approved	NTN1L	uc002glw.4	O95631	OTTHUMG00000130257	ENST00000173229.2:c.1208-5910G>C	17.37:g.9077214G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	E9KL51	RNA	SNP	-	NULL	ENST00000173229.2	37	NULL	CCDS11148.1	17																																																																																			RP11-85B7.2	-	-		0.552	NTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000262966	Clone_based_vega_gene	protein_coding	OTTHUMT00000252583.1	G			9077214	-1	no_errors	ENST00000574307	ensembl	human	known	70_37	rna	SNP	0.000	C
LOC105371919	105371919	genome.wustl.edu	37	17	77801173	77801173	+	lincRNA	SNP	C	C	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr17:77801173C>A	ENST00000576963.1	+	0	1458																											tgcatgcatacatgcacacac	0.532																																																	0																																												0																															17.37:g.77801173C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000576963.1	37	NULL		17																																																																																			RP11-353N14.2	-	-		0.532	RP11-353N14.2-001	KNOWN	basic	lincRNA	ENSG00000262772	Clone_based_vega_gene	lincRNA	OTTHUMT00000437044.1	C			77801173	+1	no_errors	ENST00000576963	ensembl	human	known	70_37	rna	SNP	0.000	A
RP11-1055B8.2	0	genome.wustl.edu	37	17	79347579	79347579	+	lincRNA	SNP	C	C	T	rs375822185	byFrequency	TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr17:79347579C>T	ENST00000574472.1	+	0	230																											TCTGGAGCGCCGAGGCCTGCC	0.652													C|||	2	0.000399361	0.0015	0.0	5008	,	,		14927	0.0		0.0	False		,,,				2504	0.0																0																																												0																															17.37:g.79347579C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000574472.1	37	NULL		17																																																																																			RP11-1055B8.2	-	-		0.652	RP11-1055B8.2-001	KNOWN	basic|exp_conf	lincRNA	ENSG00000263154	Clone_based_vega_gene	lincRNA	OTTHUMT00000439894.1	C			79347579	+1	no_errors	ENST00000574472	ensembl	human	putative	70_37	rna	SNP	0.000	T
IGLV2-18	28814	genome.wustl.edu	37	22	23077093	23077093	+	RNA	SNP	C	C	G			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr22:23077093C>G	ENST00000390310.2	+	0	0				D87007.1_ENST00000579613.1_RNA					immunoglobulin lambda variable 2-18																		GCAGCTCTCTCGGAATATCTC	0.637																																																	0																																												0			Z73642		22q11.2	2012-02-08			ENSG00000211664	ENSG00000211664		"""Immunoglobulins / IGL locus"""	5889	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151232		22.37:g.23077093C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000390310.2	37	NULL		22																																																																																			D87007.1	-	-		0.637	IGLV2-18-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	ENSG00000264629	Clone_based_ensembl_gene	IG_V_gene	OTTHUMT00000321836.1	C	NG_000002		23077093	+1	no_errors	ENST00000579613	ensembl	human	novel	70_37	rna	SNP	0.000	G
IGLV2-18	28814	genome.wustl.edu	37	22	23077103	23077103	+	RNA	SNP	C	C	G			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr22:23077103C>G	ENST00000390310.2	+	0	9				D87007.1_ENST00000579613.1_RNA					immunoglobulin lambda variable 2-18																		CGGAATATCTCCACCATGGCC	0.632																																																	0																																												0			Z73642		22q11.2	2012-02-08			ENSG00000211664	ENSG00000211664		"""Immunoglobulins / IGL locus"""	5889	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151232		22.37:g.23077103C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000390310.2	37	NULL		22																																																																																			D87007.1	-	-		0.632	IGLV2-18-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	ENSG00000264629	Clone_based_ensembl_gene	IG_V_gene	OTTHUMT00000321836.1	C	NG_000002		23077103	+1	no_errors	ENST00000579613	ensembl	human	novel	70_37	rna	SNP	0.348	G
PTPRM	5797	genome.wustl.edu	37	18	8403574	8403575	+	Intron	INS	-	-	A	rs534859528|rs78694378		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr18:8403574_8403575insA	ENST00000332175.8	+	31	5342				PTPRM_ENST00000580170.1_Intron|PTPRM_ENST00000400060.4_Intron|PTPRM_ENST00000400053.4_Intron|PTPRM_ENST00000444013.1_Intron|RP11-789C17.1_ENST00000578897.1_RNA	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M						homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				gtaccccaaataaaaaaaaatc	0.381																																																	0																																										SO:0001627	intron_variant	0			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.4306-2532->A	18.37:g.8403583_8403583dupA		Somatic		WXS	Illumina HiSeq	Phase_IV	A7MBN1|D3DUH8|J3QL11	RNA	INS	-	NULL	ENST00000332175.8	37	NULL	CCDS11840.1	18																																																																																			RP11-789C17.1	-	-		0.381	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000265413	Clone_based_vega_gene	protein_coding	OTTHUMT00000254456.1	-			8403575	+1	no_errors	ENST00000578897	ensembl	human	known	70_37	rna	INS	0.002:0.000	A
DSC1	1823	genome.wustl.edu	37	18	28742592	28742592	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr18:28742592G>T	ENST00000257198.5	-	0	227				RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_De_novo_Start_OutOfFrame	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1						homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ACGGTGGCCAGATAACAGGGC	0.577																																																	0													42.0	40.0	40.0					18																	28742592		2203	4300	6503			0			AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.-35C>A	18.37:g.28742592G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9HB01	RNA	SNP	-	NULL	ENST00000257198.5	37	NULL	CCDS11894.1	18																																																																																			RP11-408H20.2	-	-		0.577	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000265888	Clone_based_vega_gene	protein_coding	OTTHUMT00000254946.1	G	NM_004948, NM_024421		28742592	+1	no_errors	ENST00000581836	ensembl	human	known	70_37	rna	SNP	0.015	T
DSC1	1823	genome.wustl.edu	37	18	28742592	28742592	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr18:28742592G>T	ENST00000257198.5	-	0	227				RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_De_novo_Start_OutOfFrame	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1						homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ACGGTGGCCAGATAACAGGGC	0.577																																																	0													42.0	40.0	40.0					18																	28742592		2203	4300	6503			0			AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.-35C>A	18.37:g.28742592G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9HB01	RNA	SNP	-	NULL	ENST00000257198.5	37	NULL	CCDS11894.1	18																																																																																			RP11-408H20.2	-	-		0.577	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000265888	Clone_based_vega_gene	protein_coding	OTTHUMT00000254946.1	G	NM_004948, NM_024421		28742592	+1	no_errors	ENST00000581836	ensembl	human	known	70_37	rna	SNP	0.015	T
RN7SL625P	106479450	genome.wustl.edu	37	7	72312102	72312102	+	RNA	SNP	G	G	C			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr7:72312102G>C	ENST00000488637.2	-	0	203									RNA, 7SL, cytoplasmic 625, pseudogene																		tgggagttttgacctgctcag	0.512																																																	0																																												0					7q11.23	2013-04-02			ENSG00000266135			"""ncRNAs / Small cytoplasmic RNAs"""	46641	pseudogene	RNA, pseudogene							Standard			Approved						7.37:g.72312102G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000488637.2	37	NULL		7																																																																																			Metazoa_SRP	-	-		0.512	RN7SL625P-202	KNOWN	basic	misc_RNA	ENSG00000266135	RFAM	misc_RNA		G			72312102	-1	no_errors	ENST00000488637	ensembl	human	novel	70_37	rna	SNP	0.015	C
PCSK4	54760	genome.wustl.edu	37	19	1485072	1485072	+	Intron	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr19:1485072G>T	ENST00000300954.5	-	9	1130				PCSK4_ENST00000587784.1_5'Flank|CTB-25B13.6_ENST00000585643.1_RNA	NM_017573.3	NP_060043.2			proprotein convertase subtilisin/kexin type 4											cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		gcttgagcctgggaggtagag	0.483																																																	0																																										SO:0001627	intron_variant	0			AK057235	CCDS12069.2	19p13.3	2008-02-05			ENSG00000115257	ENSG00000115257			8746	protein-coding gene	gene with protein product		600487				7782070	Standard	XM_005259586		Approved	PC4, SPC5, DKFZp434B217, MGC34749	uc002ltb.1	Q6UW60	OTTHUMG00000128541	ENST00000300954.5:c.1069-946C>A	19.37:g.1485072G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000300954.5	37	NULL	CCDS12069.2	19																																																																																			CTB-25B13.6	-	-		0.483	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000267715	Clone_based_vega_gene	protein_coding	OTTHUMT00000449703.1	G	NM_017573		1485072	+1	no_errors	ENST00000585643	ensembl	human	known	70_37	rna	SNP	0.139	T
GNG7	2788	genome.wustl.edu	37	19	2611473	2611473	+	Intron	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr19:2611473G>T	ENST00000382159.3	-	2	121				CTC-265F19.2_ENST00000590491.1_RNA	NM_052847.2	NP_443079.1	O60262	GBG7_HUMAN	guanine nucleotide binding protein (G protein), gamma 7						behavioral fear response (GO:0001662)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of adenylate cyclase activity (GO:0045761)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			central_nervous_system(2)|large_intestine(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGGGGCTTGAAGGCAGGTG	0.567																																																	0																																										SO:0001627	intron_variant	0			AB010414	CCDS12091.1	19p13.3	2010-02-17			ENSG00000176533	ENSG00000176533			4410	protein-coding gene	gene with protein product		604430				9600093	Standard	NM_052847		Approved	FLJ00058	uc002lwd.2	O60262		ENST00000382159.3:c.76+34748C>A	19.37:g.2611473G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R496	RNA	SNP	-	NULL	ENST00000382159.3	37	NULL	CCDS12091.1	19																																																																																			CTC-265F19.2	-	-		0.567	GNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000267412	Clone_based_vega_gene	protein_coding	OTTHUMT00000451345.1	G	NM_052847		2611473	-1	no_errors	ENST00000590491	ensembl	human	known	70_37	rna	SNP	0.003	T
DPH5	51611	genome.wustl.edu	37	1	101456269	101456269	+	Intron	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr1:101456269G>T	ENST00000370109.3	-	8	747				DPH5_ENST00000370105.3_Intron|AC093157.1_ENST00000593496.1_Missense_Mutation_p.S88I|DPH5_ENST00000488176.1_Intron|DPH5_ENST00000342173.7_Intron|DPH5_ENST00000427040.2_Intron	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5						peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		diphthine synthase activity (GO:0004164)			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		AGTACCACAAGTACATTTCAA	0.338																																																	0																																										SO:0001627	intron_variant	0			AF132964	CCDS41358.1, CCDS41359.1	1p21.2	2013-05-02	2013-05-02		ENSG00000117543	ENSG00000117543			24270	protein-coding gene	gene with protein product		611075	"""DPH5 homolog (S. cerevisiae)"""			15485916, 23486472	Standard	NM_015958		Approved	CGI-30	uc001dtt.2	Q9H2P9	OTTHUMG00000010829	ENST00000370109.3:c.635-82C>A	1.37:g.101456269G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8JZY6|D3DT62|Q9P017|Q9P0I4|Q9Y319	Missense_Mutation	SNP	NULL	p.S88I	ENST00000370109.3	37	c.263	CCDS41358.1	1																																																																																			AC093157.1	-	NULL		0.338	DPH5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000269175	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000029881.1	G	NM_015958		101456269	+1	no_errors	ENST00000593496	ensembl	human	known	70_37	missense	SNP	0.004	T
EVI5L	115704	genome.wustl.edu	37	19	7911452	7911452	+	Silent	SNP	C	C	A	rs201270758		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr19:7911452C>A	ENST00000270530.4	+	2	220	c.24C>A	c.(22-24)ccC>ccA	p.P8P	EVI5L_ENST00000538904.2_Silent_p.P8P	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	8					negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						CTCTGAGCCCCGACTCCTCAT	0.662																																																	0													46.0	47.0	47.0					19																	7911452		2203	4299	6502	SO:0001819	synonymous_variant	115704			BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.24C>A	19.37:g.7911452C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B9A6I9	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.P8	ENST00000270530.4	37	c.24	CCDS12188.1	19																																																																																			EVI5L	-	NULL		0.662	EVI5L-001	KNOWN	basic|CCDS	protein_coding	EVI5L	HGNC	protein_coding	OTTHUMT00000461347.1	C	NM_145245		7911452	+1	no_errors	ENST00000538904	ensembl	human	known	70_37	silent	SNP	0.433	A
FAT1	2195	genome.wustl.edu	37	4	187540216	187540217	+	Frame_Shift_Ins	INS	-	-	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr4:187540216_187540217insT	ENST00000441802.2	-	10	7732_7733	c.7523_7524insA	c.(7522-7524)catfs	p.H2508fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2508	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCACCAGGGTATGTAGGGGAGC	0.426										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0																																										SO:0001589	frameshift_variant	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7524dupA	4.37:g.187540217_187540217dupT	ENSP00000406229:p.His2508fs	Somatic		WXS	Illumina HiSeq	Phase_IV		Frame_Shift_Ins	INS	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.H2508fs	ENST00000441802.2	37	c.7524_7523	CCDS47177.1	4																																																																																			FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.426	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	-	NM_005245		187540217	-1	no_errors	ENST00000441802	ensembl	human	known	70_37	frame_shift_ins	INS	0.226:0.788	T
FAT1	2195	genome.wustl.edu	37	4	187540216	187540217	+	Frame_Shift_Ins	INS	-	-	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr4:187540216_187540217insT	ENST00000441802.2	-	10	7732_7733	c.7523_7524insA	c.(7522-7524)catfs	p.H2508fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2508	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCACCAGGGTATGTAGGGGAGC	0.426										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0																																										SO:0001589	frameshift_variant	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7524dupA	4.37:g.187540217_187540217dupT	ENSP00000406229:p.His2508fs	Somatic		WXS	Illumina HiSeq	Phase_IV		Frame_Shift_Ins	INS	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.H2508fs	ENST00000441802.2	37	c.7524_7523	CCDS47177.1	4																																																																																			FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.426	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	-	NM_005245		187540217	-1	no_errors	ENST00000441802	ensembl	human	known	70_37	frame_shift_ins	INS	0.226:0.788	T
FAT1	2195	genome.wustl.edu	37	4	187629360	187629360	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr4:187629360G>C	ENST00000441802.2	-	2	1831	c.1622C>G	c.(1621-1623)tCa>tGa	p.S541*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	541	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCCCCAGTCTGATGCACGAAT	0.468										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0													78.0	75.0	76.0					4																	187629360		1934	4126	6060	SO:0001587	stop_gained	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1622C>G	4.37:g.187629360G>C	ENSP00000406229:p.Ser541*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S541*	ENST00000441802.2	37	c.1622	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	G	36	5.638732	0.96693	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	19.769	0.96353	0.0:0.0:1.0:0.0	.	.	.	.	X	541	.	ENSP00000260147:S541X	S	-	2	0	FAT1	187866354	1.000000	0.71417	0.123000	0.21794	0.240000	0.25518	9.657000	0.98554	2.906000	0.99361	0.655000	0.94253	TCA	FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.468	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	G	NM_005245		187629360	-1	no_errors	ENST00000441802	ensembl	human	known	70_37	nonsense	SNP	0.999	C
FAT1	2195	genome.wustl.edu	37	4	187629360	187629360	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr4:187629360G>C	ENST00000441802.2	-	2	1831	c.1622C>G	c.(1621-1623)tCa>tGa	p.S541*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	541	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCCCCAGTCTGATGCACGAAT	0.468										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0													78.0	75.0	76.0					4																	187629360		1934	4126	6060	SO:0001587	stop_gained	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1622C>G	4.37:g.187629360G>C	ENSP00000406229:p.Ser541*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S541*	ENST00000441802.2	37	c.1622	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	G	36	5.638732	0.96693	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	19.769	0.96353	0.0:0.0:1.0:0.0	.	.	.	.	X	541	.	ENSP00000260147:S541X	S	-	2	0	FAT1	187866354	1.000000	0.71417	0.123000	0.21794	0.240000	0.25518	9.657000	0.98554	2.906000	0.99361	0.655000	0.94253	TCA	FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.468	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	G	NM_005245		187629360	-1	no_errors	ENST00000441802	ensembl	human	known	70_37	nonsense	SNP	0.999	C
FGD5	152273	genome.wustl.edu	37	3	14861478	14861478	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr3:14861478G>T	ENST00000285046.5	+	1	1010	c.900G>T	c.(898-900)gaG>gaT	p.E300D	FGD5_ENST00000543601.1_Missense_Mutation_p.E59D	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	300	Glu-rich.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CTGACCACGAGAAGAAAACCA	0.567																																																	0													48.0	55.0	53.0					3																	14861478		2061	4210	6271	SO:0001583	missense	152273			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.900G>T	3.37:g.14861478G>T	ENSP00000285046:p.Glu300Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.E300D	ENST00000285046.5	37	c.900	CCDS46767.1	3	.	.	.	.	.	.	.	.	.	.	G	9.085	1.000164	0.19121	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.77358	-1.09;-0.96	4.83	-9.65	0.00537	.	2.530940	0.01202	N	0.007606	T	0.50769	0.1635	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.49771	-0.8904	10	0.14252	T	0.57	6.4918	5.2789	0.15665	0.2848:0.1373:0.4821:0.0958	.	59;300	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	D	300;59	ENSP00000285046:E300D;ENSP00000445949:E59D	ENSP00000285046:E300D	E	+	3	2	FGD5	14836482	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.600000	0.02083	-3.185000	0.00221	-0.467000	0.05162	GAG	FGD5	-	NULL		0.567	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD5	HGNC	protein_coding	OTTHUMT00000340628.1	G	NM_152536		14861478	+1	no_errors	ENST00000285046	ensembl	human	known	70_37	missense	SNP	0.000	T
FGF3	2248	genome.wustl.edu	37	11	69625367	69625367	+	Silent	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:69625367C>T	ENST00000334134.2	-	3	516	c.426G>A	c.(424-426)ggG>ggA	p.G142G		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	142					anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cardiac muscle tissue development (GO:0055026)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|post-anal tail morphogenesis (GO:0036342)|semicircular canal morphogenesis (GO:0048752)|signal transduction (GO:0007165)|thymus development (GO:0048538)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	growth factor activity (GO:0008083)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			GCCGGCGGGCCCCAGGCGTAC	0.652																																																	0													26.0	33.0	31.0					11																	69625367		2197	4287	6484	SO:0001819	synonymous_variant	2248				CCDS8195.1	11q13	2010-06-25	2010-06-25		ENSG00000186895	ENSG00000186895			3681	protein-coding gene	gene with protein product	"""INT-2 proto-oncogene protein"", ""oncogene INT2"", ""V-INT2 murine mammary tumor virus integration site oncogene homolog"", ""murine mammary tumor virus integration site 2, mouse"""	164950	"""fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog)"""	INT2			Standard	NM_005247		Approved	HBGF-3	uc001oph.3	P11487	OTTHUMG00000167888	ENST00000334134.2:c.426G>A	11.37:g.69625367C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VG69	Silent	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF	p.G142	ENST00000334134.2	37	c.426	CCDS8195.1	11																																																																																			FGF3	-	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF		0.652	FGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF3	HGNC	protein_coding	OTTHUMT00000396835.1	C	NM_005247		69625367	-1	no_errors	ENST00000334134	ensembl	human	known	70_37	silent	SNP	1.000	T
FLJ33360	401172	genome.wustl.edu	37	5	6312144	6312144	+	lincRNA	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr5:6312144G>T	ENST00000507444.1	-	0	828					NR_028351.1																						AGCACTGTCTGGGAGGATGGA	0.463																																																	0																																												401172																															5.37:g.6312144G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000507444.1	37	NULL		5																																																																																			CTD-2324F15.2	-	-		0.463	CTD-2324F15.2-001	KNOWN	basic|exp_conf	lincRNA	FLJ33360	Clone_based_vega_gene	lincRNA	OTTHUMT00000365707.1	G			6312144	-1	no_errors	ENST00000507444	ensembl	human	known	70_37	rna	SNP	0.000	T
FOXD2	2306	genome.wustl.edu	37	1	47904449	47904449	+	Silent	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr1:47904449C>T	ENST00000334793.5	+	1	2761	c.642C>T	c.(640-642)ggC>ggT	p.G214G		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	214					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		TCGACAACGGCAGCTTCCTGC	0.706																																																	0													32.0	40.0	37.0					1																	47904449		2202	4299	6501	SO:0001819	synonymous_variant	2306			AF042832	CCDS30708.1	1p34-p32	2008-02-05			ENSG00000186564	ENSG00000186564		"""Forkhead boxes"""	3803	protein-coding gene	gene with protein product		602211		FKHL17		9403061, 12621056	Standard	NM_004474		Approved	FREAC9	uc001crm.3	O60548	OTTHUMG00000007950	ENST00000334793.5:c.642C>T	1.37:g.47904449C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SVZ3	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.G214	ENST00000334793.5	37	c.642	CCDS30708.1	1																																																																																			FOXD2	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head		0.706	FOXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD2	HGNC	protein_coding	OTTHUMT00000021831.1	C	NM_004474		47904449	+1	no_errors	ENST00000334793	ensembl	human	known	70_37	silent	SNP	1.000	T
GABARAPL1	23710	genome.wustl.edu	37	12	10373281	10373281	+	Intron	SNP	C	C	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr12:10373281C>A	ENST00000266458.5	+	3	613				GABARAPL1_ENST00000546017.1_Intron|GABARAPL1_ENST00000539170.1_Intron|GABARAPL1_ENST00000535576.1_Intron|GABARAPL1_ENST00000545887.1_Intron|GABARAPL1_ENST00000421801.2_Missense_Mutation_p.P138T|GABARAPL1_ENST00000543602.1_Missense_Mutation_p.P138T|GABARAPL1_ENST00000544284.1_Intron	NM_031412.2	NP_113600.1	Q9H0R8	GBRL1_HUMAN	GABA(A) receptor-associated protein like 1						autophagy (GO:0006914)	autophagic vacuole (GO:0005776)|cell body (GO:0044297)|cytoplasmic vesicle (GO:0031410)|dendrite cytoplasm (GO:0032839)|dendrite membrane (GO:0032590)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|microtubule (GO:0005874)	beta-tubulin binding (GO:0048487)|GABA receptor binding (GO:0050811)			NS(1)|lung(1)	2						TTATCCGGATCCTCTTACATA	0.443																																					Melanoma(3;46 76 4652 22680 42285)												0																																										SO:0001627	intron_variant	23710			AF087847	CCDS8620.1	12p13.31	2014-02-12			ENSG00000139112	ENSG00000139112			4068	protein-coding gene	gene with protein product		607420				11414770, 11374880	Standard	NM_031412		Approved	gec1, APG8L, ATG8L, ATG8B	uc001qxs.3	Q9H0R8	OTTHUMG00000168411	ENST00000266458.5:c.288+124C>A	12.37:g.10373281C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4E0Y7|Q6FIE6	Missense_Mutation	SNP	pfam_Atg8_ubiquitin-like,pfam_Autophagy-rel_prot_12	p.P138T	ENST00000266458.5	37	c.412	CCDS8620.1	12	.	.	.	.	.	.	.	.	.	.	C	16.27	3.074743	0.55646	.	.	ENSG00000139112	ENST00000421801;ENST00000543602	T;T	0.54866	0.55;0.55	4.45	2.59	0.31030	.	.	.	.	.	T	0.34308	0.0893	.	.	.	0.80722	D	1	B	0.26935	0.164	B	0.25405	0.06	T	0.06075	-1.0847	7	.	.	.	.	6.0159	0.19603	0.0:0.7021:0.1936:0.1043	.	138	B4E0Y7	.	T	138	ENSP00000411256:P138T;ENSP00000445857:P138T	.	P	+	1	0	GABARAPL1	10264548	0.988000	0.35896	0.976000	0.42696	0.885000	0.51271	1.584000	0.36589	0.608000	0.30000	0.563000	0.77884	CCT	GABARAPL1	-	NULL		0.443	GABARAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABARAPL1	HGNC	protein_coding	OTTHUMT00000399651.1	C			10373281	+1	no_errors	ENST00000421801	ensembl	human	putative	70_37	missense	SNP	0.990	A
GAL3ST2	64090	genome.wustl.edu	37	2	242743053	242743053	+	Silent	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr2:242743053G>T	ENST00000192314.6	+	4	800	c.669G>T	c.(667-669)ctG>ctT	p.L223L	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	223	Arg-rich.				biosynthetic process (GO:0009058)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GCTTCCGGCTGGTGCTCATCG	0.692																																																	0													17.0	14.0	15.0					2																	242743053		2132	4184	6316	SO:0001819	synonymous_variant	64090			AB040610	CCDS33427.1	2q37.2	2014-05-19			ENSG00000154252	ENSG00000154252		"""Sulfotransferases, membrane-bound"""	24869	protein-coding gene	gene with protein product		608237				11029462	Standard	NM_022134		Approved	GP3ST	uc002wcj.1	Q9H3Q3	OTTHUMG00000151473	ENST00000192314.6:c.669G>T	2.37:g.242743053G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q17RK0|Q57Z52	Silent	SNP	pfam_Gal-3-0_sulfotransfrase	p.L223	ENST00000192314.6	37	c.669	CCDS33427.1	2																																																																																			GAL3ST2	-	pfam_Gal-3-0_sulfotransfrase		0.692	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAL3ST2	HGNC	protein_coding	OTTHUMT00000322792.1	G	NM_022134		242743053	+1	no_errors	ENST00000192314	ensembl	human	known	70_37	silent	SNP	0.994	T
GALNTL6	442117	genome.wustl.edu	37	4	172735776	172735776	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr4:172735776C>G	ENST00000506823.1	+	2	702	c.45C>G	c.(43-45)ttC>ttG	p.F15L	GALNTL6_ENST00000511251.1_Missense_Mutation_p.F15L	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	15					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						CTTTGTTGTTCACGGTGGCTT	0.473																																																	0													128.0	129.0	128.0					4																	172735776		2203	4300	6503	SO:0001583	missense	442117				CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.45C>G	4.37:g.172735776C>G	ENSP00000423313:p.Phe15Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2L4S6	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.F15L	ENST00000506823.1	37	c.45	CCDS34104.1	4	.	.	.	.	.	.	.	.	.	.	C	9.998	1.232687	0.22626	.	.	ENSG00000174473	ENST00000511251;ENST00000506823;ENST00000404275	T	0.53206	0.63	5.7	3.66	0.41972	.	0.407010	0.18987	N	0.125713	T	0.27629	0.0679	N	0.11927	0.2	0.36440	D	0.865426	B	0.02656	0.0	B	0.01281	0.0	T	0.16305	-1.0407	10	0.13108	T	0.6	.	12.8064	0.57616	0.0:0.8446:0.0:0.1554	.	15	Q49A17	GLTL6_HUMAN	L	15	ENSP00000423313:F15L	ENSP00000385382:F15L	F	+	3	2	GALNTL6	172972351	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.367000	0.52350	1.409000	0.46915	0.563000	0.77884	TTC	GALNTL6	-	NULL		0.473	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL6	HGNC	protein_coding	OTTHUMT00000362395.1	C	NM_001034845		172735776	+1	no_errors	ENST00000506823	ensembl	human	known	70_37	missense	SNP	1.000	G
GALNTL6	442117	genome.wustl.edu	37	4	172735776	172735776	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr4:172735776C>G	ENST00000506823.1	+	2	702	c.45C>G	c.(43-45)ttC>ttG	p.F15L	GALNTL6_ENST00000511251.1_Missense_Mutation_p.F15L	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	15					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						CTTTGTTGTTCACGGTGGCTT	0.473																																																	0													128.0	129.0	128.0					4																	172735776		2203	4300	6503	SO:0001583	missense	442117				CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.45C>G	4.37:g.172735776C>G	ENSP00000423313:p.Phe15Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2L4S6	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.F15L	ENST00000506823.1	37	c.45	CCDS34104.1	4	.	.	.	.	.	.	.	.	.	.	C	9.998	1.232687	0.22626	.	.	ENSG00000174473	ENST00000511251;ENST00000506823;ENST00000404275	T	0.53206	0.63	5.7	3.66	0.41972	.	0.407010	0.18987	N	0.125713	T	0.27629	0.0679	N	0.11927	0.2	0.36440	D	0.865426	B	0.02656	0.0	B	0.01281	0.0	T	0.16305	-1.0407	10	0.13108	T	0.6	.	12.8064	0.57616	0.0:0.8446:0.0:0.1554	.	15	Q49A17	GLTL6_HUMAN	L	15	ENSP00000423313:F15L	ENSP00000385382:F15L	F	+	3	2	GALNTL6	172972351	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.367000	0.52350	1.409000	0.46915	0.563000	0.77884	TTC	GALNTL6	-	NULL		0.473	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL6	HGNC	protein_coding	OTTHUMT00000362395.1	C	NM_001034845		172735776	+1	no_errors	ENST00000506823	ensembl	human	known	70_37	missense	SNP	1.000	G
GLI3	2737	genome.wustl.edu	37	7	42004984	42004984	+	Missense_Mutation	SNP	C	C	G	rs200382337		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr7:42004984C>G	ENST00000395925.3	-	15	3771	c.3687G>C	c.(3685-3687)ttG>ttC	p.L1229F	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1229					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TGTGGAGCATCAAGTGCTCTG	0.627									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																								0													66.0	74.0	71.0					7																	42004984		2203	4300	6503	SO:0001583	missense	2737	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3687G>C	7.37:g.42004984C>G	ENSP00000379258:p.Leu1229Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L1229F	ENST00000395925.3	37	c.3687	CCDS5465.1	7	.	.	.	.	.	.	.	.	.	.	C	9.326	1.059414	0.19987	.	.	ENSG00000106571	ENST00000395925	T	0.15017	2.46	5.7	2.83	0.33086	.	0.522456	0.19078	N	0.123322	T	0.09818	0.0241	N	0.22421	0.69	0.80722	D	1	B	0.12013	0.005	B	0.08055	0.003	T	0.16335	-1.0406	10	0.14656	T	0.56	.	8.506	0.33188	0.1273:0.7381:0.0:0.1346	.	1229	P10071	GLI3_HUMAN	F	1229	ENSP00000379258:L1229F	ENSP00000379258:L1229F	L	-	3	2	GLI3	41971509	0.002000	0.14202	0.793000	0.32043	0.278000	0.26855	0.455000	0.21843	0.710000	0.31997	0.655000	0.94253	TTG	GLI3	-	NULL		0.627	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI3	HGNC	protein_coding	OTTHUMT00000250806.3	C	NM_000168		42004984	-1	no_errors	ENST00000395925	ensembl	human	known	70_37	missense	SNP	0.923	G
GLI3	2737	genome.wustl.edu	37	7	42004984	42004984	+	Missense_Mutation	SNP	C	C	G	rs200382337		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr7:42004984C>G	ENST00000395925.3	-	15	3771	c.3687G>C	c.(3685-3687)ttG>ttC	p.L1229F	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1229					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TGTGGAGCATCAAGTGCTCTG	0.627									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																								0													66.0	74.0	71.0					7																	42004984		2203	4300	6503	SO:0001583	missense	2737	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3687G>C	7.37:g.42004984C>G	ENSP00000379258:p.Leu1229Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L1229F	ENST00000395925.3	37	c.3687	CCDS5465.1	7	.	.	.	.	.	.	.	.	.	.	C	9.326	1.059414	0.19987	.	.	ENSG00000106571	ENST00000395925	T	0.15017	2.46	5.7	2.83	0.33086	.	0.522456	0.19078	N	0.123322	T	0.09818	0.0241	N	0.22421	0.69	0.80722	D	1	B	0.12013	0.005	B	0.08055	0.003	T	0.16335	-1.0406	10	0.14656	T	0.56	.	8.506	0.33188	0.1273:0.7381:0.0:0.1346	.	1229	P10071	GLI3_HUMAN	F	1229	ENSP00000379258:L1229F	ENSP00000379258:L1229F	L	-	3	2	GLI3	41971509	0.002000	0.14202	0.793000	0.32043	0.278000	0.26855	0.455000	0.21843	0.710000	0.31997	0.655000	0.94253	TTG	GLI3	-	NULL		0.627	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI3	HGNC	protein_coding	OTTHUMT00000250806.3	C	NM_000168		42004984	-1	no_errors	ENST00000395925	ensembl	human	known	70_37	missense	SNP	0.923	G
GLRA3	8001	genome.wustl.edu	37	4	175564951	175564951	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr4:175564951G>C	ENST00000274093.3	-	10	1883	c.1381C>G	c.(1381-1383)Cag>Gag	p.Q461E	GLRA3_ENST00000340217.5_Missense_Mutation_p.Q446E	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	461					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	TCTTGCTGCTGATGAATATCC	0.398																																																	0													101.0	109.0	106.0					4																	175564951		2203	4300	6503	SO:0001583	missense	8001			AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"""Ligand-gated ion channels / Glycine receptors"""	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.1381C>G	4.37:g.175564951G>C	ENSP00000274093:p.Gln461Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DP44|O75816|Q5D0E3	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A3,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel	p.Q461E	ENST00000274093.3	37	c.1381	CCDS3822.1	4	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066242	0.55539	.	.	ENSG00000145451	ENST00000274093;ENST00000340217	T;T	0.67523	-0.15;-0.27	5.87	5.87	0.94306	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.098521	0.64402	D	0.000001	T	0.65291	0.2677	L	0.42245	1.32	0.46981	D	0.999273	B;B	0.16396	0.012;0.017	B;B	0.25506	0.061;0.028	T	0.60652	-0.7221	10	0.66056	D	0.02	.	20.1935	0.98237	0.0:0.0:1.0:0.0	.	446;461	O75311-2;O75311	.;GLRA3_HUMAN	E	461;446	ENSP00000274093:Q461E;ENSP00000345284:Q446E	ENSP00000274093:Q461E	Q	-	1	0	GLRA3	175801526	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.274000	0.51631	2.779000	0.95612	0.591000	0.81541	CAG	GLRA3	-	superfamily_Neurotrans-gated_channel_TM		0.398	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	GLRA3	HGNC	protein_coding	OTTHUMT00000313427.1	G			175564951	-1	no_errors	ENST00000274093	ensembl	human	known	70_37	missense	SNP	1.000	C
GLRA3	8001	genome.wustl.edu	37	4	175564951	175564951	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr4:175564951G>C	ENST00000274093.3	-	10	1883	c.1381C>G	c.(1381-1383)Cag>Gag	p.Q461E	GLRA3_ENST00000340217.5_Missense_Mutation_p.Q446E	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	461					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	TCTTGCTGCTGATGAATATCC	0.398																																																	0													101.0	109.0	106.0					4																	175564951		2203	4300	6503	SO:0001583	missense	8001			AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"""Ligand-gated ion channels / Glycine receptors"""	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.1381C>G	4.37:g.175564951G>C	ENSP00000274093:p.Gln461Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DP44|O75816|Q5D0E3	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A3,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel	p.Q461E	ENST00000274093.3	37	c.1381	CCDS3822.1	4	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066242	0.55539	.	.	ENSG00000145451	ENST00000274093;ENST00000340217	T;T	0.67523	-0.15;-0.27	5.87	5.87	0.94306	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.098521	0.64402	D	0.000001	T	0.65291	0.2677	L	0.42245	1.32	0.46981	D	0.999273	B;B	0.16396	0.012;0.017	B;B	0.25506	0.061;0.028	T	0.60652	-0.7221	10	0.66056	D	0.02	.	20.1935	0.98237	0.0:0.0:1.0:0.0	.	446;461	O75311-2;O75311	.;GLRA3_HUMAN	E	461;446	ENSP00000274093:Q461E;ENSP00000345284:Q446E	ENSP00000274093:Q461E	Q	-	1	0	GLRA3	175801526	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.274000	0.51631	2.779000	0.95612	0.591000	0.81541	CAG	GLRA3	-	superfamily_Neurotrans-gated_channel_TM		0.398	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	GLRA3	HGNC	protein_coding	OTTHUMT00000313427.1	G			175564951	-1	no_errors	ENST00000274093	ensembl	human	known	70_37	missense	SNP	1.000	C
GPC1	2817	genome.wustl.edu	37	2	241405038	241405038	+	Missense_Mutation	SNP	G	G	T	rs151028466		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr2:241405038G>T	ENST00000264039.2	+	8	1665	c.1417G>T	c.(1417-1419)Ggc>Tgc	p.G473C	GPC1_ENST00000466624.1_3'UTR	NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	473					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|myelin assembly (GO:0032288)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|phototransduction, visible light (GO:0007603)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|retinoid metabolic process (GO:0001523)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|fibroblast growth factor binding (GO:0017134)|laminin binding (GO:0043236)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		CGCCTACAACGGCAACGACGT	0.667																																																	0													62.0	55.0	58.0					2																	241405038		2202	4300	6502	SO:0001583	missense	2817			AK095397	CCDS2534.1	2q35-q37	2008-02-05			ENSG00000063660	ENSG00000063660		"""Proteoglycans / Cell Surface : Glypicans"""	4449	protein-coding gene	gene with protein product	"""glypican proteoglycan 1"""	600395				7774946	Standard	NM_002081		Approved	glypican	uc002vyw.4	P35052	OTTHUMG00000133349	ENST00000264039.2:c.1417G>T	2.37:g.241405038G>T	ENSP00000264039:p.Gly473Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KTD1|Q53QM4	Missense_Mutation	SNP	pfam_Glypican	p.G473C	ENST00000264039.2	37	c.1417	CCDS2534.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.40|16.40	3.112604|3.112604	0.56398|0.56398	.|.	.|.	ENSG00000063660|ENSG00000063660	ENST00000264039|ENST00000420138;ENST00000455111	D|.	0.81996|.	-1.56|.	3.56|3.56	3.56|3.56	0.40772|0.40772	.|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.81039|0.81039	0.4740|0.4740	M|M	0.92077|0.92077	3.27|3.27	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.85723|0.85723	0.1326|0.1326	10|5	0.87932|.	D|.	0|.	-4.8299|-4.8299	12.9948|12.9948	0.58640|0.58640	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	473|.	P35052|.	GPC1_HUMAN|.	C|L	473|512;224	ENSP00000264039:G473C|.	ENSP00000264039:G473C|.	G|R	+|+	1|2	0|0	GPC1|GPC1	241053711|241053711	1.000000|1.000000	0.71417|0.71417	0.067000|0.067000	0.19924|0.19924	0.445000|0.445000	0.32107|0.32107	5.296000|5.296000	0.65698|0.65698	1.704000|1.704000	0.51252|0.51252	0.551000|0.551000	0.68910|0.68910	GGC|CGG	GPC1	-	pfam_Glypican		0.667	GPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC1	HGNC	protein_coding	OTTHUMT00000257179.3	G	NM_002081		241405038	+1	no_errors	ENST00000264039	ensembl	human	known	70_37	missense	SNP	0.999	T
GPR98	84059	genome.wustl.edu	37	5	90074397	90074397	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr5:90074397G>C	ENST00000405460.2	+	63	12916	c.12820G>C	c.(12820-12822)Gag>Cag	p.E4274Q	GPR98_ENST00000425867.2_5'Flank	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4274	Calx-beta 29. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTTTTCACATGAGCAACTTCG	0.418																																																	0													49.0	48.0	49.0					5																	90074397		1974	4170	6144	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.12820G>C	5.37:g.90074397G>C	ENSP00000384582:p.Glu4274Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.E4274Q	ENST00000405460.2	37	c.12820	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	11.87	1.766871	0.31320	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.31769	1.48	5.69	4.63	0.57726	Na-Ca exchanger/integrin-beta4 (2);	0.610381	0.18338	N	0.144264	T	0.26955	0.0660	L	0.58969	1.84	0.09310	N	0.999996	B	0.18610	0.029	B	0.15870	0.014	T	0.08330	-1.0727	10	0.21540	T	0.41	.	8.4475	0.32852	0.1435:0.1412:0.7154:0.0	.	4274	Q8WXG9	GPR98_HUMAN	Q	4274	ENSP00000384582:E4274Q	ENSP00000296619:E4274Q	E	+	1	0	GPR98	90110153	0.997000	0.39634	0.558000	0.28319	0.409000	0.31022	2.982000	0.49337	2.658000	0.90341	0.655000	0.94253	GAG	GPR98	-	pfam_Calx_beta,smart_Calx_beta		0.418	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	G	NM_032119		90074397	+1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	0.004	C
GPR98	84059	genome.wustl.edu	37	5	90074397	90074397	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr5:90074397G>C	ENST00000405460.2	+	63	12916	c.12820G>C	c.(12820-12822)Gag>Cag	p.E4274Q	GPR98_ENST00000425867.2_5'Flank	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4274	Calx-beta 29. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTTTTCACATGAGCAACTTCG	0.418																																																	0													49.0	48.0	49.0					5																	90074397		1974	4170	6144	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.12820G>C	5.37:g.90074397G>C	ENSP00000384582:p.Glu4274Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.E4274Q	ENST00000405460.2	37	c.12820	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	11.87	1.766871	0.31320	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.31769	1.48	5.69	4.63	0.57726	Na-Ca exchanger/integrin-beta4 (2);	0.610381	0.18338	N	0.144264	T	0.26955	0.0660	L	0.58969	1.84	0.09310	N	0.999996	B	0.18610	0.029	B	0.15870	0.014	T	0.08330	-1.0727	10	0.21540	T	0.41	.	8.4475	0.32852	0.1435:0.1412:0.7154:0.0	.	4274	Q8WXG9	GPR98_HUMAN	Q	4274	ENSP00000384582:E4274Q	ENSP00000296619:E4274Q	E	+	1	0	GPR98	90110153	0.997000	0.39634	0.558000	0.28319	0.409000	0.31022	2.982000	0.49337	2.658000	0.90341	0.655000	0.94253	GAG	GPR98	-	pfam_Calx_beta,smart_Calx_beta		0.418	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	G	NM_032119		90074397	+1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	0.004	C
GRIN3B	116444	genome.wustl.edu	37	19	1008188	1008188	+	Silent	SNP	C	C	T	rs571283387		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr19:1008188C>T	ENST00000234389.3	+	6	2383	c.2364C>T	c.(2362-2364)tcC>tcT	p.S788S		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	788					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCAACCTGTCCGAGTTCATCA	0.647													-|||	1	0.000199681	0.0	0.0014	5008	,	,		6873	0.0		0.0	False		,,,				2504	0.0																0													54.0	38.0	44.0					19																	1008188		2198	4297	6495	SO:0001819	synonymous_variant	116444				CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.2364C>T	19.37:g.1008188C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5EAK7|Q7RTW9	Silent	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.S788	ENST00000234389.3	37	c.2364	CCDS32861.1	19																																																																																			GRIN3B	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.647	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3B	HGNC	protein_coding	OTTHUMT00000103923.2	C			1008188	+1	no_errors	ENST00000234389	ensembl	human	known	70_37	silent	SNP	0.791	T
GRIN3B	116444	genome.wustl.edu	37	19	1008188	1008188	+	Silent	SNP	C	C	T	rs571283387		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr19:1008188C>T	ENST00000234389.3	+	6	2383	c.2364C>T	c.(2362-2364)tcC>tcT	p.S788S		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	788					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCAACCTGTCCGAGTTCATCA	0.647													-|||	1	0.000199681	0.0	0.0014	5008	,	,		6873	0.0		0.0	False		,,,				2504	0.0																0													54.0	38.0	44.0					19																	1008188		2198	4297	6495	SO:0001819	synonymous_variant	116444				CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.2364C>T	19.37:g.1008188C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5EAK7|Q7RTW9	Silent	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.S788	ENST00000234389.3	37	c.2364	CCDS32861.1	19																																																																																			GRIN3B	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.647	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3B	HGNC	protein_coding	OTTHUMT00000103923.2	C			1008188	+1	no_errors	ENST00000234389	ensembl	human	known	70_37	silent	SNP	0.791	T
SLC6A6	6533	genome.wustl.edu	37	3	14533758	14533758	+	IGR	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr3:14533758G>T	ENST00000454876.2	+	0	6534				GRIP2_ENST00000273083.3_RNA			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6						amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						tccctcAAATGGAAGAGCACT	0.577																																																	0																																										SO:0001628	intergenic_variant	80852				CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"""Solute carriers"""	11052	protein-coding gene	gene with protein product	"""taurine transporter"""	186854	"""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"""			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525		3.37:g.14533758G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNU7|Q9BRI2|Q9BXB0	RNA	SNP	-	NULL	ENST00000454876.2	37	NULL	CCDS33705.1	3																																																																																			GRIP2	-	-		0.577	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIP2	HGNC	protein_coding	OTTHUMT00000340507.1	G	NM_003043		14533758	-1	no_errors	ENST00000273083	ensembl	human	known	70_37	rna	SNP	0.001	T
HDC	3067	genome.wustl.edu	37	15	50546436	50546436	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr15:50546436G>C	ENST00000267845.3	-	6	1013	c.611C>G	c.(610-612)tCc>tGc	p.S204C	HDC_ENST00000543581.1_Missense_Mutation_p.S204C	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		CTTCACAAGGGAAATCAAACC	0.517																																					GBM(95;1627 1936 6910 9570)												0													68.0	70.0	69.0					15																	50546436		2196	4295	6491	SO:0001583	missense	3067				CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.611C>G	15.37:g.50546436G>C	ENSP00000267845:p.Ser204Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Aromatic_deC	p.S204C	ENST00000267845.3	37	c.611	CCDS10134.1	15	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635055	0.67130	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.37752	1.18;1.18	5.17	5.17	0.71159	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.070613	0.64402	D	0.000003	T	0.52741	0.1753	L	0.39566	1.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.47471	-0.9115	10	0.44086	T	0.13	-26.8806	18.8759	0.92334	0.0:0.0:1.0:0.0	.	204;204	B7ZM01;P19113	.;DCHS_HUMAN	C	204	ENSP00000267845:S204C;ENSP00000440252:S204C	ENSP00000267845:S204C	S	-	2	0	HDC	48333728	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	9.411000	0.97342	2.683000	0.91414	0.655000	0.94253	TCC	HDC	-	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom		0.517	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDC	HGNC	protein_coding	OTTHUMT00000254540.1	G			50546436	-1	no_errors	ENST00000267845	ensembl	human	known	70_37	missense	SNP	1.000	C
HDC	3067	genome.wustl.edu	37	15	50546436	50546436	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr15:50546436G>C	ENST00000267845.3	-	6	1013	c.611C>G	c.(610-612)tCc>tGc	p.S204C	HDC_ENST00000543581.1_Missense_Mutation_p.S204C	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		CTTCACAAGGGAAATCAAACC	0.517																																					GBM(95;1627 1936 6910 9570)												0													68.0	70.0	69.0					15																	50546436		2196	4295	6491	SO:0001583	missense	3067				CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.611C>G	15.37:g.50546436G>C	ENSP00000267845:p.Ser204Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Aromatic_deC	p.S204C	ENST00000267845.3	37	c.611	CCDS10134.1	15	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635055	0.67130	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.37752	1.18;1.18	5.17	5.17	0.71159	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.070613	0.64402	D	0.000003	T	0.52741	0.1753	L	0.39566	1.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.47471	-0.9115	10	0.44086	T	0.13	-26.8806	18.8759	0.92334	0.0:0.0:1.0:0.0	.	204;204	B7ZM01;P19113	.;DCHS_HUMAN	C	204	ENSP00000267845:S204C;ENSP00000440252:S204C	ENSP00000267845:S204C	S	-	2	0	HDC	48333728	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	9.411000	0.97342	2.683000	0.91414	0.655000	0.94253	TCC	HDC	-	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom		0.517	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDC	HGNC	protein_coding	OTTHUMT00000254540.1	G			50546436	-1	no_errors	ENST00000267845	ensembl	human	known	70_37	missense	SNP	1.000	C
HFM1	164045	genome.wustl.edu	37	1	91731634	91731634	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr1:91731634C>A	ENST00000370425.3	-	36	4012	c.3914G>T	c.(3913-3915)aGg>aTg	p.R1305M	HFM1_ENST00000462405.1_Intron|HFM1_ENST00000370424.3_Missense_Mutation_p.R984M|HFM1_ENST00000294696.5_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1305					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CTTACTTCCCCTGGTACTTGA	0.353																																																	0													164.0	148.0	153.0					1																	91731634		1845	4078	5923	SO:0001583	missense	164045			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3914G>T	1.37:g.91731634C>A	ENSP00000359454:p.Arg1305Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B1B0B6|Q8N9Q0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R1305M	ENST00000370425.3	37	c.3914	CCDS30769.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.28|10.28	1.307381|1.307381	0.23821|0.23821	.|.	.|.	ENSG00000162669|ENSG00000162669	ENST00000430465|ENST00000370425;ENST00000370424	.|T;T	.|0.64991	.|0.27;-0.13	5.18|5.18	-0.402|-0.402	0.12404|0.12404	.|.	.|0.605324	.|0.15860	.|N	.|0.241081	T|T	0.16085|0.16085	0.0387|0.0387	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B;B	.|0.14012	.|0.009;0.004	.|B;B	.|0.12156	.|0.007;0.002	T|T	0.12372|0.12372	-1.0550|-1.0550	5|10	.|0.42905	.|T	.|0.14	.|.	0.9759|0.9759	0.01426|0.01426	0.3145:0.3519:0.1535:0.1802|0.3145:0.3519:0.1535:0.1802	.|.	.|516;1305	.|B1B0B5;A2PYH4	.|.;HFM1_HUMAN	W|M	517|1305;984	.|ENSP00000359454:R1305M;ENSP00000359453:R984M	.|ENSP00000359453:R984M	G|R	-|-	1|2	0|0	HFM1|HFM1	91504222|91504222	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.865000|0.865000	0.49528|0.49528	-0.569000|-0.569000	0.05902|0.05902	0.259000|0.259000	0.21709|0.21709	0.655000|0.655000	0.94253|0.94253	GGG|AGG	HFM1	-	NULL		0.353	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HFM1	HGNC	protein_coding	OTTHUMT00000316716.2	C	NM_001017975		91731634	-1	no_errors	ENST00000370425	ensembl	human	known	70_37	missense	SNP	0.000	A
HLA-A	3105	genome.wustl.edu	37	6	29910797	29910797	+	Nonsense_Mutation	SNP	G	G	T	rs41559912		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr6:29910797G>T	ENST00000396634.1	+	4	678	c.337G>T	c.(337-339)Gag>Tag	p.E113*	HLA-A_ENST00000376809.5_Nonsense_Mutation_p.E113*|HLA-A_ENST00000376806.5_Nonsense_Mutation_p.E113*|HLA-A_ENST00000376802.2_Nonsense_Mutation_p.E113*			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	113	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CAACCAGAGCGAGGCCGGTGA	0.692									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																																							0													40.0	43.0	42.0					6																	29910797		2200	4292	6492	SO:0001587	stop_gained	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.337G>T	6.37:g.29910797G>T	ENSP00000379873:p.Glu113*	Somatic		WXS	Illumina HiSeq	Phase_IV	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Nonsense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.E113*	ENST00000396634.1	37	c.337	CCDS34373.1	6	.	.	.	.	.	.	.	.	.	.	.	35	5.433768	0.96150	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	.	.	.	3.57	2.6	0.31112	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.375	0.32438	0.0:0.2432:0.7568:0.0	.	.	.	.	X	113	.	ENSP00000348012:E113X	E	+	1	0	HLA-A	30018776	0.032000	0.19561	0.853000	0.33588	0.049000	0.14656	0.398000	0.20899	2.030000	0.59900	0.478000	0.44815	GAG	HLA-A	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.692	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1	G	NM_002116		29910797	+1	no_errors	ENST00000376806	ensembl	human	known	70_37	nonsense	SNP	0.722	T
HP09025	100652929	genome.wustl.edu	37	17	77683255	77683255	+	lincRNA	SNP	A	A	G	rs112569384		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr17:77683255A>G	ENST00000397549.2	+	0	1366				MIR4739_ENST00000577633.1_RNA																							aaaaaaaaaaaaaagaaagaa	0.438																																																	0																																												100652929																															17.37:g.77683255A>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000397549.2	37	NULL		17																																																																																			CTD-2116F7.1	-	-		0.438	CTD-2116F7.1-001	KNOWN	basic	lincRNA	HP09025	Clone_based_vega_gene	lincRNA	OTTHUMT00000437037.1	A			77683255	+1	no_errors	ENST00000397549	ensembl	human	known	70_37	rna	SNP	0.010	G
HSD17B4	3295	genome.wustl.edu	37	5	118866973	118866973	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr5:118866973C>T	ENST00000256216.6	+	22	2000	c.1867C>T	c.(1867-1869)Cag>Tag	p.Q623*	HSD17B4_ENST00000504811.1_Nonsense_Mutation_p.Q648*|HSD17B4_ENST00000509514.1_Nonsense_Mutation_p.Q361*|HSD17B4_ENST00000513628.1_Nonsense_Mutation_p.Q486*|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000515320.1_Nonsense_Mutation_p.Q605*|HSD17B4_ENST00000510025.1_Nonsense_Mutation_p.Q599*|HSD17B4_ENST00000414835.2_Nonsense_Mutation_p.Q483*	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	623					alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		CGGGAAGCTTCAGAGTACCTT	0.363																																					Colon(35;490 801 34689 41394 43344)												0													89.0	89.0	89.0					5																	118866973		2202	4300	6502	SO:0001587	stop_gained	3295				CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.1867C>T	5.37:g.118866973C>T	ENSP00000256216:p.Gln623*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DNV1|B4DVS5|E9PB82|F5HE57	Nonsense_Mutation	SNP	pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.Q623*	ENST00000256216.6	37	c.1867	CCDS4126.1	5	.	.	.	.	.	.	.	.	.	.	C	41	8.911123	0.99000	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-12.9224	18.1517	0.89676	0.0:1.0:0.0:0.0	.	.	.	.	X	623;605;599;648;483;486;361	.	ENSP00000256216:Q623X	Q	+	1	0	HSD17B4	118894872	1.000000	0.71417	0.998000	0.56505	0.509000	0.34042	5.074000	0.64401	2.582000	0.87167	0.650000	0.86243	CAG	HSD17B4	-	superfamily_SCP2_sterol-bd_dom		0.363	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B4	HGNC	protein_coding	OTTHUMT00000250863.3	C	NM_000414		118866973	+1	no_errors	ENST00000256216	ensembl	human	known	70_37	nonsense	SNP	1.000	T
HSD17B4	3295	genome.wustl.edu	37	5	118866973	118866973	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr5:118866973C>T	ENST00000256216.6	+	22	2000	c.1867C>T	c.(1867-1869)Cag>Tag	p.Q623*	HSD17B4_ENST00000504811.1_Nonsense_Mutation_p.Q648*|HSD17B4_ENST00000509514.1_Nonsense_Mutation_p.Q361*|HSD17B4_ENST00000513628.1_Nonsense_Mutation_p.Q486*|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000515320.1_Nonsense_Mutation_p.Q605*|HSD17B4_ENST00000510025.1_Nonsense_Mutation_p.Q599*|HSD17B4_ENST00000414835.2_Nonsense_Mutation_p.Q483*	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	623					alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		CGGGAAGCTTCAGAGTACCTT	0.363																																					Colon(35;490 801 34689 41394 43344)												0													89.0	89.0	89.0					5																	118866973		2202	4300	6502	SO:0001587	stop_gained	3295				CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.1867C>T	5.37:g.118866973C>T	ENSP00000256216:p.Gln623*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DNV1|B4DVS5|E9PB82|F5HE57	Nonsense_Mutation	SNP	pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.Q623*	ENST00000256216.6	37	c.1867	CCDS4126.1	5	.	.	.	.	.	.	.	.	.	.	C	41	8.911123	0.99000	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-12.9224	18.1517	0.89676	0.0:1.0:0.0:0.0	.	.	.	.	X	623;605;599;648;483;486;361	.	ENSP00000256216:Q623X	Q	+	1	0	HSD17B4	118894872	1.000000	0.71417	0.998000	0.56505	0.509000	0.34042	5.074000	0.64401	2.582000	0.87167	0.650000	0.86243	CAG	HSD17B4	-	superfamily_SCP2_sterol-bd_dom		0.363	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B4	HGNC	protein_coding	OTTHUMT00000250863.3	C	NM_000414		118866973	+1	no_errors	ENST00000256216	ensembl	human	known	70_37	nonsense	SNP	1.000	T
IFNLR1	163702	genome.wustl.edu	37	1	24483816	24483816	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr1:24483816G>A	ENST00000327535.1	-	7	1379	c.1367C>T	c.(1366-1368)cCg>cTg	p.P456L	IFNLR1_ENST00000327575.2_3'UTR|IFNLR1_ENST00000374421.3_Missense_Mutation_p.P427L	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1	456					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342)	integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)											ATTCGGCTCCGGTGGTAAGGT	0.587																																																	0													67.0	78.0	74.0					1																	24483816		2203	4300	6503	SO:0001583	missense	163702			AY129153	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436		"""Interferons"""	18584	protein-coding gene	gene with protein product	"""interferon lambda receptor 1"""	607404	"""interleukin 28 receptor, alpha"", ""interleukin 28 receptor, alpha (interferon, lambda receptor)"""	IL28RA			Standard	NM_173064		Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	Q8IU57	OTTHUMG00000003036	ENST00000327535.1:c.1367C>T	1.37:g.24483816G>A	ENSP00000327824:p.Pro456Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.P456L	ENST00000327535.1	37	c.1367	CCDS248.1	1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319931	0.60634	.	.	ENSG00000185436	ENST00000327535;ENST00000374421	.	.	.	5.62	4.7	0.59300	.	0.765168	0.12399	N	0.472258	T	0.53045	0.1772	L	0.59436	1.845	0.27399	N	0.954914	D;D	0.76494	0.997;0.999	P;P	0.55011	0.588;0.766	T	0.44436	-0.9328	9	0.39692	T	0.17	-1.9298	12.2595	0.54642	0.0:0.0:0.8302:0.1698	.	456;427	Q8IU57;Q8IU57-2	I28RA_HUMAN;.	L	456;427	.	ENSP00000327824:P456L	P	-	2	0	IL28RA	24356403	0.052000	0.20516	0.003000	0.11579	0.002000	0.02628	0.874000	0.28065	1.492000	0.48499	0.655000	0.94253	CCG	IL28RA	-	NULL		0.587	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL28RA	HGNC	protein_coding	OTTHUMT00000008402.1	G	NM_170743		24483816	-1	no_errors	ENST00000327535	ensembl	human	known	70_37	missense	SNP	0.009	A
IFNLR1	163702	genome.wustl.edu	37	1	24483816	24483816	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr1:24483816G>A	ENST00000327535.1	-	7	1379	c.1367C>T	c.(1366-1368)cCg>cTg	p.P456L	IFNLR1_ENST00000327575.2_3'UTR|IFNLR1_ENST00000374421.3_Missense_Mutation_p.P427L	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1	456					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342)	integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)											ATTCGGCTCCGGTGGTAAGGT	0.587																																																	0													67.0	78.0	74.0					1																	24483816		2203	4300	6503	SO:0001583	missense	163702			AY129153	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436		"""Interferons"""	18584	protein-coding gene	gene with protein product	"""interferon lambda receptor 1"""	607404	"""interleukin 28 receptor, alpha"", ""interleukin 28 receptor, alpha (interferon, lambda receptor)"""	IL28RA			Standard	NM_173064		Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	Q8IU57	OTTHUMG00000003036	ENST00000327535.1:c.1367C>T	1.37:g.24483816G>A	ENSP00000327824:p.Pro456Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.P456L	ENST00000327535.1	37	c.1367	CCDS248.1	1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319931	0.60634	.	.	ENSG00000185436	ENST00000327535;ENST00000374421	.	.	.	5.62	4.7	0.59300	.	0.765168	0.12399	N	0.472258	T	0.53045	0.1772	L	0.59436	1.845	0.27399	N	0.954914	D;D	0.76494	0.997;0.999	P;P	0.55011	0.588;0.766	T	0.44436	-0.9328	9	0.39692	T	0.17	-1.9298	12.2595	0.54642	0.0:0.0:0.8302:0.1698	.	456;427	Q8IU57;Q8IU57-2	I28RA_HUMAN;.	L	456;427	.	ENSP00000327824:P456L	P	-	2	0	IL28RA	24356403	0.052000	0.20516	0.003000	0.11579	0.002000	0.02628	0.874000	0.28065	1.492000	0.48499	0.655000	0.94253	CCG	IL28RA	-	NULL		0.587	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL28RA	HGNC	protein_coding	OTTHUMT00000008402.1	G	NM_170743		24483816	-1	no_errors	ENST00000327535	ensembl	human	known	70_37	missense	SNP	0.009	A
IGFN1	91156	genome.wustl.edu	37	1	201169419	201169419	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr1:201169419G>A	ENST00000295591.8	+	0	643				IGFN1_ENST00000451870.2_Silent_p.L171L|IGFN1_ENST00000335211.4_Silent_p.L171L			Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1							nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGCAGCTGCTGATGACAGCAG	0.562																																																	0													78.0	93.0	89.0					1																	201169419		692	1591	2283			91156			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728		1.37:g.201169419G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	F8WAI1|Q9NT72	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L171	ENST00000295591.8	37	c.513		1																																																																																			IGFN1	-	NULL		0.562	IGFN1-201	KNOWN	basic	protein_coding	IGFN1	HGNC	protein_coding		G	NM_178275		201169419	+1	no_errors	ENST00000335211	ensembl	human	known	70_37	silent	SNP	0.998	A
ING5	84289	genome.wustl.edu	37	2	242660352	242660352	+	Intron	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr2:242660352G>T	ENST00000313552.6	+	6	508				ING5_ENST00000406941.1_Intron|ING5_ENST00000482774.1_3'UTR	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5						chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		CTTCTGGGGTGCCCTTGCTGG	0.667																																																	0																																										SO:0001627	intron_variant	84289			AF189286	CCDS33425.1	2q37.3	2013-01-28			ENSG00000168395	ENSG00000168395		"""Zinc fingers, PHD-type"""	19421	protein-coding gene	gene with protein product		608525				12750254	Standard	NM_032329		Approved	FLJ23842, p28ING5	uc002wcd.3	Q8WYH8	OTTHUMG00000151501	ENST00000313552.6:c.483-2002G>T	2.37:g.242660352G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1P3|Q53NU6|Q57Z54|Q9BS30	RNA	SNP	-	NULL	ENST00000313552.6	37	NULL	CCDS33425.1	2																																																																																			ING5	-	-		0.667	ING5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ING5	HGNC	protein_coding	OTTHUMT00000322901.3	G	NM_032329		242660352	+1	no_errors	ENST00000482774	ensembl	human	known	70_37	rna	SNP	0.000	T
IQGAP3	128239	genome.wustl.edu	37	1	156534463	156534463	+	Silent	SNP	C	C	T	rs138994698		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr1:156534463C>T	ENST00000361170.2	-	5	391	c.381G>A	c.(379-381)acG>acA	p.T127T		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	127	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CATAGATGTCCGTGGTCTCTG	0.507																																																	0								C		0,4406		0,0,2203	125.0	118.0	120.0		381	-6.0	0.9	1	dbSNP_134	120	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	IQGAP3	NM_178229.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		127/1632	156534463	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	128239			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.381G>A	1.37:g.156534463C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T3H8	Silent	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP	p.T127	ENST00000361170.2	37	c.381	CCDS1144.1	1																																																																																			IQGAP3	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.507	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP3	HGNC	protein_coding	OTTHUMT00000080657.1	C	NM_178229		156534463	-1	no_errors	ENST00000361170	ensembl	human	known	70_37	silent	SNP	0.120	T
IQGAP3	128239	genome.wustl.edu	37	1	156534463	156534463	+	Silent	SNP	C	C	T	rs138994698		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr1:156534463C>T	ENST00000361170.2	-	5	391	c.381G>A	c.(379-381)acG>acA	p.T127T		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	127	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CATAGATGTCCGTGGTCTCTG	0.507																																																	0								C		0,4406		0,0,2203	125.0	118.0	120.0		381	-6.0	0.9	1	dbSNP_134	120	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	IQGAP3	NM_178229.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		127/1632	156534463	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	128239			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.381G>A	1.37:g.156534463C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T3H8	Silent	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP	p.T127	ENST00000361170.2	37	c.381	CCDS1144.1	1																																																																																			IQGAP3	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.507	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP3	HGNC	protein_coding	OTTHUMT00000080657.1	C	NM_178229		156534463	-1	no_errors	ENST00000361170	ensembl	human	known	70_37	silent	SNP	0.120	T
ITGAE	3682	genome.wustl.edu	37	17	3658411	3658411	+	Splice_Site	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr17:3658411C>T	ENST00000263087.4	-	12	1482	c.1384G>A	c.(1384-1386)Ggt>Agt	p.G462S		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	462					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CCGCCCTCACCCAGGTAGCTG	0.736																																					NSCLC(182;635 2928 8995 38788)												0													3.0	4.0	4.0					17																	3658411		1890	3790	5680	SO:0001630	splice_region_variant	3682			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.1384+1G>A	17.37:g.3658411C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q17RS6|Q9NZU9	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A	p.G462S	ENST00000263087.4	37	c.1384	CCDS32531.1	17	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315205	0.81358	.	.	ENSG00000083457	ENST00000263087	T	0.53640	0.61	4.72	4.72	0.59763	.	.	.	.	.	T	0.61048	0.2316	M	0.91818	3.245	0.37385	D	0.912199	P	0.46220	0.874	B	0.43155	0.41	T	0.76130	-0.3072	8	.	.	.	.	15.967	0.79984	0.0:1.0:0.0:0.0	.	462	P38570	ITAE_HUMAN	S	462	ENSP00000263087:G462S	.	G	-	1	0	ITGAE	3605160	0.997000	0.39634	1.000000	0.80357	0.833000	0.47200	4.279000	0.58953	2.548000	0.85928	0.609000	0.83330	GGT	ITGAE	-	smart_Int_alpha_beta-p,prints_Integrin_alpha		0.736	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ITGAE	HGNC	protein_coding	OTTHUMT00000438169.1	C	NM_002208	Missense_Mutation	3658411	-1	no_errors	ENST00000263087	ensembl	human	known	70_37	missense	SNP	1.000	T
ITGAX	3687	genome.wustl.edu	37	16	31382737	31382737	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr16:31382737C>T	ENST00000268296.4	+	16	2045	c.1924C>T	c.(1924-1926)Cag>Tag	p.Q642*	ITGAX_ENST00000562522.1_Nonsense_Mutation_p.Q642*	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	642					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GTGTCGGGAGCAGGTGGTCTC	0.587																																																	0													82.0	62.0	68.0					16																	31382737		2197	4300	6497	SO:0001587	stop_gained	3687			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1924C>T	16.37:g.31382737C>T	ENSP00000268296:p.Gln642*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IVA6	Nonsense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.Q642*	ENST00000268296.4	37	c.1924	CCDS10711.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.604025	0.96626	.	.	ENSG00000140678	ENST00000268296	.	.	.	5.07	0.71	0.18157	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	7.9786	0.30170	0.2991:0.4108:0.2901:0.0	.	.	.	.	X	642	.	ENSP00000268296:Q642X	Q	+	1	0	ITGAX	31290238	0.000000	0.05858	0.000000	0.03702	0.219000	0.24729	0.382000	0.20635	-0.018000	0.14079	0.650000	0.86243	CAG	ITGAX	-	pfam_Integrin_alpha-2		0.587	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAX	HGNC	protein_coding	OTTHUMT00000255628.2	C	NM_000887		31382737	+1	no_errors	ENST00000268296	ensembl	human	known	70_37	nonsense	SNP	0.003	T
ITGAX	3687	genome.wustl.edu	37	16	31382737	31382737	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr16:31382737C>T	ENST00000268296.4	+	16	2045	c.1924C>T	c.(1924-1926)Cag>Tag	p.Q642*	ITGAX_ENST00000562522.1_Nonsense_Mutation_p.Q642*	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	642					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GTGTCGGGAGCAGGTGGTCTC	0.587																																																	0													82.0	62.0	68.0					16																	31382737		2197	4300	6497	SO:0001587	stop_gained	3687			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1924C>T	16.37:g.31382737C>T	ENSP00000268296:p.Gln642*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IVA6	Nonsense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.Q642*	ENST00000268296.4	37	c.1924	CCDS10711.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.604025	0.96626	.	.	ENSG00000140678	ENST00000268296	.	.	.	5.07	0.71	0.18157	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	7.9786	0.30170	0.2991:0.4108:0.2901:0.0	.	.	.	.	X	642	.	ENSP00000268296:Q642X	Q	+	1	0	ITGAX	31290238	0.000000	0.05858	0.000000	0.03702	0.219000	0.24729	0.382000	0.20635	-0.018000	0.14079	0.650000	0.86243	CAG	ITGAX	-	pfam_Integrin_alpha-2		0.587	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAX	HGNC	protein_coding	OTTHUMT00000255628.2	C	NM_000887		31382737	+1	no_errors	ENST00000268296	ensembl	human	known	70_37	nonsense	SNP	0.003	T
KCNT2	343450	genome.wustl.edu	37	1	196195007	196195007	+	IGR	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr1:196195007G>T	ENST00000294725.9	-	0	4409				KCNT2_ENST00000367433.5_3'UTR|KCNT2_ENST00000367431.4_3'UTR|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2						potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ATTCCCATTGGGCTACAAGGA	0.249																																																	0																																										SO:0001628	intergenic_variant	343450			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611		1.37:g.196195007G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3SY59|Q5VTN1|Q6ZMT3	RNA	SNP	-	NULL	ENST00000294725.9	37	NULL	CCDS1384.1	1																																																																																			KCNT2	-	-		0.249	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	HGNC	protein_coding	OTTHUMT00000086418.2	G	NM_198503		196195007	-1	no_errors	ENST00000498426	ensembl	human	known	70_37	rna	SNP	0.000	T
LAMB2	3913	genome.wustl.edu	37	3	49160390	49160390	+	Silent	SNP	G	G	C			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr3:49160390G>C	ENST00000418109.1	-	28	4484	c.4320C>G	c.(4318-4320)ctC>ctG	p.L1440L	USP19_ENST00000398892.3_5'Flank|LAMB2_ENST00000305544.4_Silent_p.L1440L|USP19_ENST00000434032.2_5'Flank|USP19_ENST00000398888.2_5'Flank|USP19_ENST00000453664.1_5'Flank|USP19_ENST00000417901.1_5'Flank|LAMB2_ENST00000464891.1_5'Flank|USP19_ENST00000488993.1_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1440	Domain alpha.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CATTGCAGCTGAGGCCCCCAC	0.682																																																	0													26.0	27.0	27.0					3																	49160390		2203	4299	6502	SO:0001819	synonymous_variant	3913				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.4320C>G	3.37:g.49160390G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q16321	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.L1440	ENST00000418109.1	37	c.4320	CCDS2789.1	3																																																																																			LAMB2	-	NULL		0.682	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB2	HGNC	protein_coding	OTTHUMT00000345939.1	G	NM_002292		49160390	-1	no_errors	ENST00000305544	ensembl	human	known	70_37	silent	SNP	0.998	C
LAMB2	3913	genome.wustl.edu	37	3	49160390	49160390	+	Silent	SNP	G	G	C			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr3:49160390G>C	ENST00000418109.1	-	28	4484	c.4320C>G	c.(4318-4320)ctC>ctG	p.L1440L	USP19_ENST00000398892.3_5'Flank|LAMB2_ENST00000305544.4_Silent_p.L1440L|USP19_ENST00000434032.2_5'Flank|USP19_ENST00000398888.2_5'Flank|USP19_ENST00000453664.1_5'Flank|USP19_ENST00000417901.1_5'Flank|LAMB2_ENST00000464891.1_5'Flank|USP19_ENST00000488993.1_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1440	Domain alpha.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CATTGCAGCTGAGGCCCCCAC	0.682																																																	0													26.0	27.0	27.0					3																	49160390		2203	4299	6502	SO:0001819	synonymous_variant	3913				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.4320C>G	3.37:g.49160390G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q16321	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.L1440	ENST00000418109.1	37	c.4320	CCDS2789.1	3																																																																																			LAMB2	-	NULL		0.682	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB2	HGNC	protein_coding	OTTHUMT00000345939.1	G	NM_002292		49160390	-1	no_errors	ENST00000305544	ensembl	human	known	70_37	silent	SNP	0.998	C
LAMB2	3913	genome.wustl.edu	37	3	49161416	49161416	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr3:49161416G>A	ENST00000418109.1	-	25	3706	c.3542C>T	c.(3541-3543)tCa>tTa	p.S1181L	LAMB2_ENST00000305544.4_Missense_Mutation_p.S1181L|LAMB2_ENST00000464891.1_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1181	Laminin EGF-like 13. {ECO:0000255|PROSITE-ProRule:PRU00460}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AAAGATTCCTGAGAAGCCACG	0.617																																																	0													51.0	47.0	48.0					3																	49161416		2203	4300	6503	SO:0001583	missense	3913				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.3542C>T	3.37:g.49161416G>A	ENSP00000388325:p.Ser1181Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16321	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.S1181L	ENST00000418109.1	37	c.3542	CCDS2789.1	3	.	.	.	.	.	.	.	.	.	.	G	27.3	4.823052	0.90873	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.34072	1.38;1.38	5.84	5.84	0.93424	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	T	0.51075	0.1653	L	0.46157	1.445	0.80722	D	1	D	0.71674	0.998	D	0.64877	0.93	T	0.22521	-1.0214	10	0.11485	T	0.65	.	20.1278	0.97990	0.0:0.0:1.0:0.0	.	1181	P55268	LAMB2_HUMAN	L	1181	ENSP00000388325:S1181L;ENSP00000307156:S1181L	ENSP00000307156:S1181L	S	-	2	0	LAMB2	49136420	1.000000	0.71417	0.973000	0.42090	0.979000	0.70002	4.820000	0.62671	2.768000	0.95171	0.561000	0.74099	TCA	LAMB2	-	pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin		0.617	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB2	HGNC	protein_coding	OTTHUMT00000345939.1	G	NM_002292		49161416	-1	no_errors	ENST00000305544	ensembl	human	known	70_37	missense	SNP	1.000	A
LATS2	26524	genome.wustl.edu	37	13	21562747	21562747	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr13:21562747C>T	ENST00000382592.4	-	4	1577	c.1172G>A	c.(1171-1173)cGc>cAc	p.R391H	LATS2_ENST00000542899.1_Missense_Mutation_p.R391H|LATS2_ENST00000472754.1_5'Flank	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CACGTGCGCGCGCGGCGGCGC	0.731																																																	0													9.0	13.0	11.0					13																	21562747		2086	4060	6146	SO:0001583	missense	26524			AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.1172G>A	13.37:g.21562747C>T	ENSP00000372035:p.Arg391His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.R391H	ENST00000382592.4	37	c.1172	CCDS9294.1	13	.	.	.	.	.	.	.	.	.	.	C	15.97	2.989873	0.54041	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.59638	0.25;0.25	3.35	3.35	0.38373	.	0.098700	0.42053	D	0.000763	T	0.65729	0.2719	L	0.47190	1.495	0.22185	N	0.999303	D	0.76494	0.999	P	0.61722	0.893	T	0.59490	-0.7445	10	0.45353	T	0.12	.	15.0328	0.71720	0.0:1.0:0.0:0.0	.	391	Q9NRM7	LATS2_HUMAN	H	391	ENSP00000372035:R391H;ENSP00000441817:R391H	ENSP00000372035:R391H	R	-	2	0	LATS2	20460747	0.992000	0.36948	0.005000	0.12908	0.718000	0.41266	1.674000	0.37544	1.735000	0.51646	0.297000	0.19635	CGC	LATS2	-	NULL		0.731	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS2	HGNC	protein_coding	OTTHUMT00000044102.1	C			21562747	-1	no_errors	ENST00000382592	ensembl	human	known	70_37	missense	SNP	0.271	T
PDE10A	10846	genome.wustl.edu	37	6	166401487	166401487	+	5'Flank	SNP	G	G	C			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr6:166401487G>C	ENST00000535229.1	-	0	0				LINC00473_ENST00000584911.1_lincRNA			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A						blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	gtgtgtgtCCGAGTGCACTTC	0.552																																					Esophageal Squamous(22;308 615 5753 12038 40624)												0																																										SO:0001631	upstream_gene_variant	90632			AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986		6.37:g.166401487G>C	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	RNA	SNP	-	NULL	ENST00000535229.1	37	NULL		6																																																																																			LINC00473	-	-		0.552	PDE10A-004	KNOWN	mRNA_end_NF|basic	processed_transcript	LINC00473	HGNC	protein_coding	OTTHUMT00000470299.1	G			166401487	-1	no_errors	ENST00000455853	ensembl	human	known	70_37	rna	SNP	0.001	C
NAA11	84779	genome.wustl.edu	37	4	80148524	80148524	+	Intron	SNP	C	C	G	rs143581649	byFrequency	TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr4:80148524C>G	ENST00000513733.1	-	2	293				LINC01088_ENST00000510667.1_RNA|LINC01088_ENST00000515597.1_RNA|LINC01088_ENST00000507476.1_RNA|LINC01088_ENST00000512130.1_RNA|LINC01088_ENST00000507761.1_RNA|LINC01088_ENST00000509088.1_RNA|LINC01088_ENST00000513153.1_RNA|LINC01088_ENST00000511895.1_RNA|LINC01088_ENST00000437737.3_RNA			Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit						N-terminal protein amino acid acetylation (GO:0006474)	NatA complex (GO:0031415)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						agacacttctcaaaagaagac	0.383																																																	0																																										SO:0001627	intron_variant	100505875				CCDS47084.1	4q21.23	2010-05-07	2010-01-14	2010-01-14		ENSG00000156269	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	28125	protein-coding gene	gene with protein product			"""ARD1 homolog B (S. cerevisiae)"""	ARD1B		16638120, 19660095	Standard	NM_032693		Approved	ARD2, hARD2	uc003hlt.4	Q9BSU3		ENST00000513733.1:c.292-1100G>C	4.37:g.80148524C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q66K19|Q6P479	RNA	SNP	-	NULL	ENST00000513733.1	37	NULL		4																																																																																			RP11-438E5.1	-	-		0.383	NAA11-003	KNOWN	basic	processed_transcript	LOC100505875	Clone_based_vega_gene	protein_coding	OTTHUMT00000362924.1	C			80148524	+1	no_errors	ENST00000507761	ensembl	human	known	70_37	rna	SNP	0.292	G
NUP107	57122	genome.wustl.edu	37	12	69079501	69079501	+	5'Flank	SNP	G	G	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr12:69079501G>A	ENST00000229179.4	+	0	0				NUP107_ENST00000539906.1_5'Flank|RP11-637A17.2_ENST00000500695.2_lincRNA|NUP107_ENST00000378905.2_5'Flank	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			aagaaGGAAGGAAGGAAACAT	0.378																																																	0																																										SO:0001631	upstream_gene_variant	100507250			AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265		12.37:g.69079501G>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZ67|Q6PJE1	RNA	SNP	-	NULL	ENST00000229179.4	37	NULL	CCDS8985.1	12																																																																																			RP11-637A17.2	-	-		0.378	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100507250	Clone_based_vega_gene	protein_coding	OTTHUMT00000403195.1	G	NM_020401		69079501	-1	no_errors	ENST00000433116	ensembl	human	known	70_37	rna	SNP	0.000	A
MICALL2	79778	genome.wustl.edu	37	7	1499645	1499645	+	5'Flank	SNP	G	G	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr7:1499645G>A	ENST00000297508.7	-	0	0				AC102953.4_ENST00000445345.1_RNA|MICALL2_ENST00000405088.4_5'Flank	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2						actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CCCCTGCGGAGACCTGGAATT	0.672																																																	0																																										SO:0001631	upstream_gene_variant	100996269			BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021		7.37:g.1499645G>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	RNA	SNP	-	NULL	ENST00000297508.7	37	NULL	CCDS5324.1	7																																																																																			AC102953.4	-	-		0.672	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100996269	Clone_based_vega_gene	protein_coding	OTTHUMT00000239223.2	G	NM_182924		1499645	+1	no_errors	ENST00000445345	ensembl	human	known	70_37	rna	SNP	0.023	A
ZNF254	9534	genome.wustl.edu	37	19	24246697	24246697	+	Intron	SNP	G	G	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr19:24246697G>A	ENST00000342944.6	+	2	244				CTD-2017D11.1_ENST00000597683.1_lincRNA	NM_001278663.1	NP_001265592.1	O75437	ZN254_HUMAN	zinc finger protein 254						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ggagcattgtgacacatttct	0.498																																																	0																																										SO:0001627	intron_variant	100996381			AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000342944.6:c.-3+17616G>A	19.37:g.24246697G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A4QPC0|Q86XL7	RNA	SNP	-	NULL	ENST00000342944.6	37	NULL		19																																																																																			CTD-2017D11.1	-	-		0.498	ZNF254-201	KNOWN	basic	protein_coding	LOC100996381	Clone_based_vega_gene	protein_coding		G	NM_004876		24246697	+1	no_errors	ENST00000597683	ensembl	human	known	70_37	rna	SNP	0.009	A
LINC01128	643837	genome.wustl.edu	37	1	792871	792871	+	RNA	SNP	A	A	T	rs201828392		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr1:792871A>T	ENST00000445118.2	+	0	4651					NR_047519.1|NR_047520.1|NR_047521.1|NR_047522.1|NR_047523.1|NR_047524.1|NR_047525.1																						GGTCAAGAACAGGGAGATAAT	0.428																																																	0																																												643837																															1.37:g.792871A>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000445118.2	37	NULL		1																																																																																			RP11-206L10.11	-	-		0.428	RP11-206L10.11-001	KNOWN	basic	lincRNA	LOC643837	Clone_based_vega_gene	processed_transcript	OTTHUMT00000007015.2	A			792871	+1	no_errors	ENST00000445118	ensembl	human	known	70_37	rna	SNP	0.336	T
LINC01347	731275	genome.wustl.edu	37	1	243251118	243251118	+	lincRNA	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr1:243251118G>T	ENST00000417964.1	-	0	1346																											ggccaggcatgggttcacgtc	0.473																																																	0																																												100996554																															1.37:g.243251118G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000417964.1	37	NULL		1																																																																																			RP11-261C10.3	-	-		0.473	RP11-261C10.3-006	KNOWN	basic	lincRNA	LOC100996554	Clone_based_vega_gene	lincRNA	OTTHUMT00000096168.1	G			243251118	-1	no_errors	ENST00000435840	ensembl	human	known	70_37	rna	SNP	0.344	T
LINC00839	84856	genome.wustl.edu	37	10	42989654	42989654	+	lincRNA	SNP	C	C	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr10:42989654C>A	ENST00000429940.2	+	0	1123					NR_026827.1				long intergenic non-protein coding RNA 839																		ggctatgacgcccactgctag	0.522																																																	0																																												84856					10q11.21	2012-12-20			ENSG00000185904	ENSG00000185904		"""Long non-coding RNAs"""	28269	protein-coding gene	gene with protein product						12477932	Standard	NR_026827		Approved		uc001izy.3		OTTHUMG00000018010		10.37:g.42989654C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000429940.2	37	NULL		10																																																																																			RP11-178A10.1	-	-		0.522	LINC00839-001	KNOWN	basic	lincRNA	LOC84856	Clone_based_vega_gene	lincRNA	OTTHUMT00000047672.2	C	NR_026827		42989654	+1	no_errors	ENST00000332123	ensembl	human	known	70_37	rna	SNP	0.009	A
LOC93622	93622	genome.wustl.edu	37	4	6676121	6676121	+	lincRNA	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr4:6676121G>T	ENST00000307533.6	+	0	944				RP11-539L10.3_ENST00000515205.1_lincRNA	NR_015433.1																						GCCATCAAGAGTGAGGTGGAG	0.746																																																	0																																												93622																															4.37:g.6676121G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000307533.6	37	NULL		4																																																																																			AC093323.3	-	-		0.746	AC093323.3-001	KNOWN	basic	lincRNA	LOC93622	Clone_based_vega_gene	lincRNA	OTTHUMT00000246832.2	G			6676121	+1	no_errors	ENST00000307533	ensembl	human	known	70_37	rna	SNP	0.000	T
LUZP2	338645	genome.wustl.edu	37	11	25004778	25004778	+	Missense_Mutation	SNP	G	G	T	rs139865032		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:25004778G>T	ENST00000336930.6	+	9	770	c.704G>T	c.(703-705)cGg>cTg	p.R235L	LUZP2_ENST00000533227.1_Missense_Mutation_p.R149L			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	235						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						AATCCAACTCGGATGTTACTC	0.453																																																	0													159.0	136.0	144.0					11																	25004778		2203	4300	6503	SO:0001583	missense	338645			AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.704G>T	11.37:g.25004778G>T	ENSP00000336817:p.Arg235Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Missense_Mutation	SNP	NULL	p.R235L	ENST00000336930.6	37	c.704	CCDS31446.1	11	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723474	0.30593	.	.	ENSG00000187398	ENST00000336930;ENST00000533227	T;T	0.24723	1.84;1.84	5.42	0.037	0.14194	.	0.407977	0.24532	N	0.037713	T	0.09379	0.0231	N	0.08118	0	0.20196	N	0.99993	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25916	-1.0118	10	0.21014	T	0.42	-0.8839	4.197	0.10448	0.6007:0.0:0.1477:0.2517	.	149;235	E9PN53;Q86TE4	.;LUZP2_HUMAN	L	235;149	ENSP00000336817:R235L;ENSP00000432952:R149L	ENSP00000336817:R235L	R	+	2	0	LUZP2	24961354	1.000000	0.71417	0.520000	0.27837	0.273000	0.26683	1.141000	0.31528	-0.179000	0.10654	-0.295000	0.09555	CGG	LUZP2	-	NULL		0.453	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LUZP2	HGNC	protein_coding	OTTHUMT00000387861.1	G	NM_001009909		25004778	+1	no_errors	ENST00000336930	ensembl	human	known	70_37	missense	SNP	0.984	T
MALAT1	378938	genome.wustl.edu	37	11	65266070	65266070	+	lincRNA	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:65266070C>T	ENST00000534336.1	+	0	838				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TGCCACTTCTCAACCGTCCCT	0.483																																																	0													63.0	64.0	64.0					11																	65266070		874	1988	2862			378938			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65266070C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-		0.483	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	C	NR_002819		65266070	+1	no_errors	ENST00000534336	ensembl	human	known	70_37	rna	SNP	0.001	T
MAPK7	5598	genome.wustl.edu	37	17	19286539	19286539	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr17:19286539C>T	ENST00000308406.5	+	7	2832	c.2446C>T	c.(2446-2448)Ccc>Tcc	p.P816S	MAPK7_ENST00000299612.7_Missense_Mutation_p.P677S|MAPK7_ENST00000395602.4_Missense_Mutation_p.P816S|MAPK7_ENST00000571657.1_3'UTR|MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000395604.3_Missense_Mutation_p.P816S	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	816					cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CCTCCAGGACCCCTGAGGCCC	0.602																																																	0													44.0	43.0	43.0					17																	19286539		2203	4300	6503	SO:0001583	missense	5598			U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"""Mitogen-activated protein kinase cascade / Kinases"""	6880	protein-coding gene	gene with protein product	"""BMK1 kinase"", ""extracellular-signal-regulated kinase 5"""	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.2446C>T	17.37:g.19286539C>T	ENSP00000311005:p.Pro816Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	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.P816S	ENST00000308406.5	37	c.2446	CCDS11206.1	17	.	.	.	.	.	.	.	.	.	.	C	17.59	3.426649	0.62733	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;T;T;T	0.76968	-0.81;-1.06;-0.81;-0.81	4.91	2.92	0.33932	.	0.287525	0.35151	N	0.003416	T	0.67552	0.2905	L	0.51422	1.61	0.26354	N	0.977155	B	0.02656	0.0	B	0.01281	0.0	T	0.61187	-0.7113	10	0.87932	D	0	.	4.5348	0.12022	0.1752:0.6377:0.0:0.1871	.	816	Q13164	MK07_HUMAN	S	816;677;816;816	ENSP00000311005:P816S;ENSP00000299612:P677S;ENSP00000378968:P816S;ENSP00000378966:P816S	ENSP00000299612:P677S	P	+	1	0	MAPK7	19227132	0.842000	0.29525	0.997000	0.53966	0.989000	0.77384	0.321000	0.19558	0.487000	0.27698	0.491000	0.48974	CCC	MAPK7	-	NULL		0.602	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK7	HGNC	protein_coding	OTTHUMT00000132506.1	C	NM_139033		19286539	+1	no_errors	ENST00000308406	ensembl	human	known	70_37	missense	SNP	0.998	T
MARCH11	441061	genome.wustl.edu	37	5	16067780	16067780	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr5:16067780C>G	ENST00000332432.8	-	4	1208	c.1009G>C	c.(1009-1011)Gag>Cag	p.E337Q		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	337					protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						GTGGAAGACTCTCCCCGGCTG	0.483																																																	0													93.0	92.0	92.0					5																	16067780		1932	4135	6067	SO:0001583	missense	441061			BC150513	CCDS47192.1	5p15.1	2013-01-09			ENSG00000183654	ENSG00000183654		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	33609	protein-coding gene	gene with protein product		613338				17604280	Standard	NM_001102562		Approved	MARCH-XI	uc003jfo.2	A6NNE9	OTTHUMG00000161789	ENST00000332432.8:c.1009G>C	5.37:g.16067780C>G	ENSP00000333181:p.Glu337Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2S6	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.E337Q	ENST00000332432.8	37	c.1009	CCDS47192.1	5	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143223	0.57044	.	.	ENSG00000183654	ENST00000332432	T	0.18338	2.22	5.43	5.43	0.79202	.	0.000000	0.45126	D	0.000386	T	0.14917	0.0360	L	0.29908	0.895	0.34991	D	0.75502	B	0.26445	0.149	B	0.24394	0.053	T	0.13872	-1.0493	10	0.16896	T	0.51	-22.9922	19.6057	0.95580	0.0:1.0:0.0:0.0	.	337	A6NNE9	MARHB_HUMAN	Q	337	ENSP00000333181:E337Q	ENSP00000333181:E337Q	E	-	1	0	MARCH11	16120780	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.859000	0.55987	2.693000	0.91896	0.650000	0.86243	GAG	MARCH11	-	NULL		0.483	MARCH11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MARCH11	HGNC	protein_coding	OTTHUMT00000366096.2	C	NM_001102562		16067780	-1	no_errors	ENST00000332432	ensembl	human	known	70_37	missense	SNP	1.000	G
MARCH11	441061	genome.wustl.edu	37	5	16067780	16067780	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr5:16067780C>G	ENST00000332432.8	-	4	1208	c.1009G>C	c.(1009-1011)Gag>Cag	p.E337Q		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	337					protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						GTGGAAGACTCTCCCCGGCTG	0.483																																																	0													93.0	92.0	92.0					5																	16067780		1932	4135	6067	SO:0001583	missense	441061			BC150513	CCDS47192.1	5p15.1	2013-01-09			ENSG00000183654	ENSG00000183654		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	33609	protein-coding gene	gene with protein product		613338				17604280	Standard	NM_001102562		Approved	MARCH-XI	uc003jfo.2	A6NNE9	OTTHUMG00000161789	ENST00000332432.8:c.1009G>C	5.37:g.16067780C>G	ENSP00000333181:p.Glu337Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2S6	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.E337Q	ENST00000332432.8	37	c.1009	CCDS47192.1	5	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143223	0.57044	.	.	ENSG00000183654	ENST00000332432	T	0.18338	2.22	5.43	5.43	0.79202	.	0.000000	0.45126	D	0.000386	T	0.14917	0.0360	L	0.29908	0.895	0.34991	D	0.75502	B	0.26445	0.149	B	0.24394	0.053	T	0.13872	-1.0493	10	0.16896	T	0.51	-22.9922	19.6057	0.95580	0.0:1.0:0.0:0.0	.	337	A6NNE9	MARHB_HUMAN	Q	337	ENSP00000333181:E337Q	ENSP00000333181:E337Q	E	-	1	0	MARCH11	16120780	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.859000	0.55987	2.693000	0.91896	0.650000	0.86243	GAG	MARCH11	-	NULL		0.483	MARCH11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MARCH11	HGNC	protein_coding	OTTHUMT00000366096.2	C	NM_001102562		16067780	-1	no_errors	ENST00000332432	ensembl	human	known	70_37	missense	SNP	1.000	G
METTL21A	151194	genome.wustl.edu	37	2	208476955	208476955	+	3'UTR	SNP	C	C	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr2:208476955C>A	ENST00000411432.1	-	0	1688				METTL21A_ENST00000458426.1_Intron|METTL21A_ENST00000425132.1_Intron|METTL21A_ENST00000448007.2_3'UTR|METTL21A_ENST00000477919.1_5'UTR|METTL21A_ENST00000432416.1_Intron	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A						peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	cytoplasm (GO:0005737)	ATPase binding (GO:0051117)|Hsp70 protein binding (GO:0030544)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						tcctgagtagctgggattaca	0.542																																																	0																																										SO:0001624	3_prime_UTR_variant	151194			AK093812, AF455817	CCDS2376.1	2q33.3	2013-09-30	2011-03-03	2011-03-03	ENSG00000144401	ENSG00000144401			30476	protein-coding gene	gene with protein product	"""Hepatocellular carcinoma-associated antigen 557b"", ""heat shock protein 70kDa lysine (K) methyltransferase"""	615257	"""family with sequence similarity 119, member A"""	FAM119A		23921388	Standard	NM_145280		Approved	LOC151194, HCA557b, HSPA-KMT	uc010fuk.1	Q8WXB1	OTTHUMG00000132934	ENST00000411432.1:c.*815G>T	2.37:g.208476955C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53RV0|Q8N1Z9|Q96GH6	RNA	SNP	-	NULL	ENST00000411432.1	37	NULL	CCDS2376.1	2																																																																																			METTL21A	-	-		0.542	METTL21A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL21A	HGNC	protein_coding	OTTHUMT00000337044.1	C	NM_145280		208476955	-1	no_errors	ENST00000477919	ensembl	human	putative	70_37	rna	SNP	0.084	A
MIR17HG	407975	genome.wustl.edu	37	13	92003784	92003784	+	RNA	SNP	C	C	G			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr13:92003784C>G	ENST00000362310.2	+	0	184				MIR17HG_ENST00000385233.2_RNA|MIR17HG_ENST00000385012.1_RNA|MIR17HG_ENST00000384829.1_RNA|MIR17HG_ENST00000362279.1_RNA|MIR17HG_ENST00000384878.1_RNA	NR_029488.1		Q75NE6	MIRH1_HUMAN	miR-17-92 cluster host gene (non-protein coding)							integral component of membrane (GO:0016021)											TGTTTTCATTCAAAAACATTT	0.299																																																	0																																												407975			AB176707		13q31.3	2014-07-18	2011-02-14	2009-07-24	ENSG00000215417	ENSG00000215417		"""-"""	23564	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 48"", ""long intergenic non-protein coding RNA 48"""	609415	"""chromosome 13 open reading frame 25"", ""microRNA host gene 1 (non-protein coding)"", ""MIR17 host gene (non-protein coding)"""	C13orf25, MIRHG1		15126345, 15944707, 16266980, 17210683, 23551855	Standard	NR_027349		Approved	FLJ14178, MIRH1, MIHG1, NCRNA00048, miR-17-92, LINC00048	uc010tie.1	Q75NE6	OTTHUMG00000017195		13.37:g.92003784C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A4QMU7|Q75NE7	RNA	SNP	-	NULL	ENST00000362310.2	37	NULL		13																																																																																			MIR17HG	-	-		0.299	MIR17HG-202	KNOWN	basic	miRNA	MIR17HG	HGNC	processed_transcript		C	NR_027349		92003784	+1	no_errors	ENST00000581816	ensembl	human	known	70_37	rna	SNP	0.000	G
BIRC6	57448	genome.wustl.edu	37	2	32757248	32757248	+	Intron	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr2:32757248G>T	ENST00000421745.2	+	61	12425				MIR558_ENST00000384920.1_RNA	NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6						apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					gGTTATTTTGGTATAGTAGCT	0.373																																					Pancreas(94;175 1509 16028 18060 45422)												0													57.0	52.0	53.0					2																	32757248		1568	3582	5150	SO:0001627	intron_variant	693143			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.12291+630G>T	2.37:g.32757248G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9ULD1	RNA	SNP	-	NULL	ENST00000421745.2	37	NULL	CCDS33175.2	2																																																																																			MIR558	-	-		0.373	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR558	HGNC	protein_coding	OTTHUMT00000318769.3	G	NM_016252		32757248	+1	no_errors	ENST00000384920	ensembl	human	known	70_37	rna	SNP	0.002	T
BIRC6	57448	genome.wustl.edu	37	2	32757248	32757248	+	Intron	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr2:32757248G>T	ENST00000421745.2	+	61	12425				MIR558_ENST00000384920.1_RNA	NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6						apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					gGTTATTTTGGTATAGTAGCT	0.373																																					Pancreas(94;175 1509 16028 18060 45422)												0													57.0	52.0	53.0					2																	32757248		1568	3582	5150	SO:0001627	intron_variant	693143			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.12291+630G>T	2.37:g.32757248G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9ULD1	RNA	SNP	-	NULL	ENST00000421745.2	37	NULL	CCDS33175.2	2																																																																																			MIR558	-	-		0.373	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR558	HGNC	protein_coding	OTTHUMT00000318769.3	G	NM_016252		32757248	+1	no_errors	ENST00000384920	ensembl	human	known	70_37	rna	SNP	0.002	T
MMP20	9313	genome.wustl.edu	37	11	102479695	102479695	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:102479695C>A	ENST00000260228.2	-	5	796	c.784G>T	c.(784-786)Gat>Tat	p.D262Y	MMP20_ENST00000544938.1_5'Flank|RP11-817J15.2_ENST00000542119.1_RNA|RP11-817J15.2_ENST00000544115.1_RNA	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	271					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	CCTTTCACATCATCTTTGGGG	0.468																																																	0													151.0	135.0	140.0					11																	102479695		2203	4299	6502	SO:0001583	missense	9313			Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"""enamelysin"""	604629	"""matrix metalloproteinase 20 (enamelysin)"""			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.784G>T	11.37:g.102479695C>A	ENSP00000260228:p.Asp262Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DUA8|Q9H3Q0	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.D262Y	ENST00000260228.2	37	c.784	CCDS8318.1	11	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320559	0.60634	.	.	ENSG00000137674	ENST00000260228	T	0.73897	-0.79	5.38	5.38	0.77491	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92903	0.7742	H	0.99391	4.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95648	0.8704	10	0.87932	D	0	.	18.9412	0.92605	0.0:1.0:0.0:0.0	.	262	O60882	MMP20_HUMAN	Y	262	ENSP00000260228:D262Y	ENSP00000260228:D262Y	D	-	1	0	MMP20	101984905	1.000000	0.71417	0.982000	0.44146	0.089000	0.18198	7.376000	0.79658	2.793000	0.96121	0.655000	0.94253	GAT	MMP20	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin		0.468	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP20	HGNC	protein_coding	OTTHUMT00000398012.1	C			102479695	-1	no_errors	ENST00000260228	ensembl	human	known	70_37	missense	SNP	1.000	A
MMP12	4321	genome.wustl.edu	37	11	102738638	102738638	+	RNA	SNP	C	C	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:102738638C>A	ENST00000532855.1	-	0	883							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	ATTCAACTCACCATACAGGGA	0.358																																																	0													54.0	53.0	53.0					11																	102738638		1896	4118	6014			4321			L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102738638C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9X8|B7ZLF6|Q2M1L9	Splice_Site	SNP	-	NULL	ENST00000532855.1	37	c.NULL		11																																																																																			MMP12	-	-		0.358	MMP12-001	KNOWN	basic	processed_transcript	MMP12	HGNC	processed_transcript	OTTHUMT00000386646.1	C	NM_002426		102738638	-1	no_errors	ENST00000326227	ensembl	human	known	70_37	splice_site	SNP	1.000	A
MON2	23041	genome.wustl.edu	37	12	62864489	62864489	+	Intron	SNP	G	G	C			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr12:62864489G>C	ENST00000393632.2	+	1	502				MON2_ENST00000549378.1_Intron|MON2_ENST00000552738.1_Intron|MON2_ENST00000393630.3_Intron|MON2_ENST00000552115.1_Intron|MON2_ENST00000546600.1_Intron|MON2_ENST00000393629.2_Intron|MON2_ENST00000280379.6_Intron	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)						actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		AGGTACAGATGAGGGGTATCT	0.358																																																	0																																										SO:0001627	intron_variant	23041				CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.111+3391G>C	12.37:g.62864489G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	NULL	p.M40I	ENST00000393632.2	37	c.120	CCDS31849.1	12																																																																																			MON2	-	NULL		0.358	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MON2	HGNC	protein_coding	OTTHUMT00000406767.3	G	NM_015026		62864489	+1	no_errors	ENST00000547095	ensembl	human	known	70_37	missense	SNP	0.000	C
MPP7	143098	genome.wustl.edu	37	10	28341768	28341768	+	3'UTR	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr10:28341768C>T	ENST00000375732.1	-	0	3216				MPP7_ENST00000540098.1_3'UTR|MPP7_ENST00000337532.5_3'UTR			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)						establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						GGCAGGGCTTCACTGCATGCA	0.343																																																	0																																										SO:0001624	3_prime_UTR_variant	143098			BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.*1226G>A	10.37:g.28341768C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	RNA	SNP	-	NULL	ENST00000375732.1	37	NULL	CCDS7158.1	10																																																																																			MPP7	-	-		0.343	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP7	HGNC	protein_coding	OTTHUMT00000047345.1	C	NM_173496		28341768	-1	no_errors	ENST00000496637	ensembl	human	known	70_37	rna	SNP	0.000	T
MSH6	2956	genome.wustl.edu	37	2	48012058	48012058	+	Intron	SNP	G	G	C			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr2:48012058G>C	ENST00000234420.5	+	1	412				MSH6_ENST00000540021.1_Intron|MSH6_ENST00000538136.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6						ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ctctgtctctggatcaagaga	0.483			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)																																								SO:0001627	intron_variant	2956	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.260+1426G>C	2.37:g.48012058G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	RNA	SNP	-	NULL	ENST00000234420.5	37	NULL	CCDS1836.1	2																																																																																			MSH6	-	-		0.483	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH6	HGNC	protein_coding	OTTHUMT00000251180.4	G	NM_000179		48012058	+1	no_errors	ENST00000493177	ensembl	human	putative	70_37	rna	SNP	0.167	C
MUC12	10071	genome.wustl.edu	37	7	100646670	100646670	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr7:100646670C>A	ENST00000379442.3	+	5	13255	c.13255C>A	c.(13255-13257)Cac>Aac	p.H4419N	MUC12_ENST00000536621.1_Missense_Mutation_p.H4276N			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	4419	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						TACTACCTTCCACAGCAGCCC	0.557																																																	0													294.0	316.0	310.0					7																	100646670		686	1590	2276	SO:0001583	missense	10071			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.13255C>A	7.37:g.100646670C>A	ENSP00000368755:p.His4419Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.H4419N	ENST00000379442.3	37	c.13255		7	.	.	.	.	.	.	.	.	.	.	c	1.439	-0.568154	0.03910	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.12039	2.72;2.72	1.02	1.02	0.19986	.	.	.	.	.	T	0.06005	0.0156	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.42258	-0.9462	7	0.21014	T	0.42	.	5.4462	0.16537	0.0:1.0:0.0:0.0	.	.	.	.	N	4419;4276	ENSP00000368755:H4419N;ENSP00000441929:H4276N	ENSP00000368755:H4419N	H	+	1	0	MUC12	100433390	0.001000	0.12720	0.001000	0.08648	0.012000	0.07955	0.335000	0.19806	0.878000	0.35920	0.423000	0.28283	CAC	MUC12	-	NULL		0.557	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	C	XM_379904		100646670	+1	no_errors	ENST00000379442	ensembl	human	known	70_37	missense	SNP	0.001	A
NBPF11	200030	genome.wustl.edu	37	1	146055349	146055349	+	Missense_Mutation	SNP	G	G	A	rs200002878	byFrequency	TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr1:146055349G>A	ENST00000604938.1	-	7	1572	c.274C>T	c.(274-276)Ctc>Ttc	p.L92F	NBPF11_ENST00000339388.5_Missense_Mutation_p.L92F|NBPF11_ENST00000479926.2_Intron|NBPF11_ENST00000369323.3_Intron|NBPF11_ENST00000401009.2_5'Flank|NBPF11_ENST00000605317.1_Missense_Mutation_p.L146F|NBPF11_ENST00000604894.1_Intron			Q86T75	NBPFB_HUMAN	neuroblastoma breakpoint family, member 11	92						cytoplasm (GO:0005737)						all_hematologic(923;0.0276)					CCTCACCTGAGCTCCTCAGCT	0.527																																																	0																																										SO:0001583	missense	200030					1q21.1	2014-01-16			ENSG00000152042	ENSG00000263956		"""neuroblastoma breakpoint family"""	31993	protein-coding gene	gene with protein product		614001	"""neuroblastoma breakpoint family, member 24"""	NBPF24		16079250	Standard	XM_006711197		Approved			Q86T75	OTTHUMG00000013880	ENST00000604938.1:c.274C>T	1.37:g.146055349G>A	ENSP00000474107:p.Leu92Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AKG1|B7Z7R4	Missense_Mutation	SNP	pfam_NBPF_dom,superfamily_Secretoglobin	p.L92F	ENST00000604938.1	37	c.274		1	.	.	.	.	.	.	.	.	.	.	g	8.397	0.841041	0.16891	.	.	ENSG00000152042	ENST00000339388;ENST00000479926	T	0.03553	3.89	0.804	0.804	0.18697	.	.	.	.	.	T	0.04952	0.0133	M	0.66378	2.025	0.09310	N	0.999998	D;B	0.76494	0.999;0.137	D;B	0.71656	0.974;0.01	T	0.35748	-0.9776	9	0.39692	T	0.17	.	5.0805	0.14653	0.0:0.0:1.0:0.0	.	92;92	B7WNR1;Q86T75	.;NBPFB_HUMAN	F	92	ENSP00000345181:L92F	ENSP00000345181:L92F	L	-	1	0	NBPF11	144766706	0.001000	0.12720	0.053000	0.19242	0.075000	0.17131	-0.341000	0.07811	0.772000	0.33382	0.398000	0.26397	CTC	NBPF11	-	NULL		0.527	NBPF11-001	KNOWN	basic|appris_candidate	protein_coding	NBPF11	HGNC	protein_coding	OTTHUMT00000351193.2	G	NM_183372		146055349	-1	no_errors	ENST00000339388	ensembl	human	known	70_37	missense	SNP	0.060	A
NEB	4703	genome.wustl.edu	37	2	152586147	152586147	+	Silent	SNP	G	G	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr2:152586147G>A	ENST00000172853.10	-	4	207	c.60C>T	c.(58-60)taC>taT	p.Y20Y	NEB_ENST00000603639.1_Silent_p.Y20Y|NEB_ENST00000427231.2_Silent_p.Y20Y|NEB_ENST00000397345.3_Silent_p.Y20Y|NEB_ENST00000409198.1_Silent_p.Y20Y|NEB_ENST00000604864.1_Silent_p.Y20Y			P20929	NEBU_HUMAN	nebulin	20					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCACCTCTTCGTAAACCACTT	0.493																																																	0													120.0	117.0	118.0					2																	152586147		1983	4159	6142	SO:0001819	synonymous_variant	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.60C>T	2.37:g.152586147G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.Y20	ENST00000172853.10	37	c.60		2																																																																																			NEB	-	NULL		0.493	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		G	NM_004543		152586147	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	silent	SNP	0.150	A
NEB	4703	genome.wustl.edu	37	2	152586147	152586147	+	Silent	SNP	G	G	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr2:152586147G>A	ENST00000172853.10	-	4	207	c.60C>T	c.(58-60)taC>taT	p.Y20Y	NEB_ENST00000603639.1_Silent_p.Y20Y|NEB_ENST00000427231.2_Silent_p.Y20Y|NEB_ENST00000397345.3_Silent_p.Y20Y|NEB_ENST00000409198.1_Silent_p.Y20Y|NEB_ENST00000604864.1_Silent_p.Y20Y			P20929	NEBU_HUMAN	nebulin	20					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCACCTCTTCGTAAACCACTT	0.493																																																	0													120.0	117.0	118.0					2																	152586147		1983	4159	6142	SO:0001819	synonymous_variant	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.60C>T	2.37:g.152586147G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.Y20	ENST00000172853.10	37	c.60		2																																																																																			NEB	-	NULL		0.493	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		G	NM_004543		152586147	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	silent	SNP	0.150	A
NLRP1	22861	genome.wustl.edu	37	17	5424312	5424312	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr17:5424312C>A	ENST00000572272.1	-	14	3803	c.3804G>T	c.(3802-3804)atG>atT	p.M1268I	NLRP1_ENST00000345221.3_Intron|NLRP1_ENST00000269280.4_Intron|NLRP1_ENST00000354411.3_Missense_Mutation_p.M1238I|NLRP1_ENST00000577119.1_Intron|NLRP1_ENST00000262467.5_Missense_Mutation_p.M1272I			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1268					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				ACTGGAATTTCATTTCTAGAT	0.498																																																	0													90.0	81.0	84.0					17																	5424312		2203	4300	6503	SO:0001583	missense	22861			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.3804G>T	17.37:g.5424312C>A	ENSP00000460475:p.Met1268Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R	p.M1268I	ENST00000572272.1	37	c.3804	CCDS42246.1	17	.	.	.	.	.	.	.	.	.	.	C	1.367	-0.587110	0.03827	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411	T;T;T	0.17370	2.28;2.28;2.28	4.59	-0.969	0.10310	.	1.259020	0.05922	N	0.633651	T	0.14313	0.0346	L	0.47716	1.5	0.09310	N	1	B;B;B	0.26602	0.054;0.067;0.154	B;B;B	0.27380	0.047;0.079;0.079	T	0.36939	-0.9727	10	0.37606	T	0.19	.	3.3886	0.07281	0.1781:0.4249:0.0:0.397	.	1238;1268;1272	Q9C000-4;Q9C000;E9PE50	.;NALP1_HUMAN;.	I	1272;1272;1268;1238	ENSP00000442029:M1272I;ENSP00000262467:M1272I;ENSP00000346390:M1238I	ENSP00000262467:M1272I	M	-	3	0	NLRP1	5365036	0.001000	0.12720	0.007000	0.13788	0.003000	0.03518	-0.065000	0.11617	0.009000	0.14813	-0.151000	0.13558	ATG	NLRP1	-	NULL		0.498	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP1	HGNC	protein_coding	OTTHUMT00000439517.1	C	NM_033004		5424312	-1	no_errors	ENST00000572272	ensembl	human	known	70_37	missense	SNP	0.021	A
NLRP1	22861	genome.wustl.edu	37	17	5485360	5485360	+	Silent	SNP	G	G	A	rs201548084		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr17:5485360G>A	ENST00000572272.1	-	3	470	c.471C>T	c.(469-471)taC>taT	p.Y157Y	NLRP1_ENST00000345221.3_Silent_p.Y157Y|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Silent_p.Y157Y|NLRP1_ENST00000354411.3_Silent_p.Y157Y|NLRP1_ENST00000577119.1_Silent_p.Y157Y|NLRP1_ENST00000262467.5_Silent_p.Y157Y			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	157					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GAAGAGCTTGGTAGAGGAGTG	0.483																																																	0													35.0	39.0	38.0					17																	5485360		2203	4300	6503	SO:0001819	synonymous_variant	22861			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.471C>T	17.37:g.5485360G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Silent	SNP	pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R	p.Y157	ENST00000572272.1	37	c.471	CCDS42246.1	17																																																																																			NLRP1	-	NULL		0.483	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP1	HGNC	protein_coding	OTTHUMT00000439517.1	G	NM_033004		5485360	-1	no_errors	ENST00000572272	ensembl	human	known	70_37	silent	SNP	0.012	A
NLRP1	22861	genome.wustl.edu	37	17	5485360	5485360	+	Silent	SNP	G	G	A	rs201548084		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr17:5485360G>A	ENST00000572272.1	-	3	470	c.471C>T	c.(469-471)taC>taT	p.Y157Y	NLRP1_ENST00000345221.3_Silent_p.Y157Y|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Silent_p.Y157Y|NLRP1_ENST00000354411.3_Silent_p.Y157Y|NLRP1_ENST00000577119.1_Silent_p.Y157Y|NLRP1_ENST00000262467.5_Silent_p.Y157Y			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	157					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GAAGAGCTTGGTAGAGGAGTG	0.483																																																	0													35.0	39.0	38.0					17																	5485360		2203	4300	6503	SO:0001819	synonymous_variant	22861			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.471C>T	17.37:g.5485360G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Silent	SNP	pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R	p.Y157	ENST00000572272.1	37	c.471	CCDS42246.1	17																																																																																			NLRP1	-	NULL		0.483	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP1	HGNC	protein_coding	OTTHUMT00000439517.1	G	NM_033004		5485360	-1	no_errors	ENST00000572272	ensembl	human	known	70_37	silent	SNP	0.012	A
NEURL4	84461	genome.wustl.edu	37	17	7227237	7227237	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr17:7227237G>T	ENST00000399464.2	-	12	2172	c.2157C>A	c.(2155-2157)ttC>ttA	p.F719L	NEURL4_ENST00000570460.1_Missense_Mutation_p.F697L|NEURL4_ENST00000315614.7_Missense_Mutation_p.F719L	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	719	NHR 4. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCAGCTGATGGAAGCGCAGGT	0.612											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													65.0	76.0	72.0					17																	7227237		2061	4192	6253	SO:0001583	missense	84461				CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.2157C>A	17.37:g.7227237G>T	ENSP00000382390:p.Phe719Leu	Somatic	640	WXS	Illumina HiSeq	Phase_IV	Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	pfam_Neu_Z,superfamily_ConA-like_lec_gl_sf,smart_Neu_Z,pfscan_Neu_Z	p.F719L	ENST00000399464.2	37	c.2157	CCDS42251.1	17	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489823	0.84962	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.53857	0.6;0.6	5.7	2.61	0.31194	NEUZ (3);	0.000000	0.85682	D	0.000000	T	0.72471	0.3464	M	0.87617	2.895	0.42369	D	0.992448	D;D	0.76494	0.999;0.992	D;D	0.80764	0.994;0.987	T	0.75903	-0.3153	10	0.87932	D	0	-20.8528	10.4171	0.44329	0.2203:0.0:0.7797:0.0	.	719;719	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	L	719	ENSP00000319826:F719L;ENSP00000382390:F719L	ENSP00000319826:F719L	F	-	3	2	NEURL4	7167961	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.698000	0.47068	0.763000	0.33175	0.655000	0.94253	TTC	NEURL4	-	pfam_Neu_Z,smart_Neu_Z,pfscan_Neu_Z		0.612	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEURL4	HGNC	protein_coding	OTTHUMT00000255434.2	G	NM_032442		7227237	-1	no_errors	ENST00000399464	ensembl	human	known	70_37	missense	SNP	1.000	T
NLRP6	171389	genome.wustl.edu	37	11	280449	280449	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:280449G>T	ENST00000312165.5	+	4	715	c.715G>T	c.(715-717)Gag>Tag	p.E239*	NLRP6_ENST00000534750.1_Nonsense_Mutation_p.E239*	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	239	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCCCTGCGGCGAGCTGCTGGA	0.692																																																	0													22.0	22.0	22.0					11																	280449		2199	4297	6496	SO:0001587	stop_gained	171389			AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.715G>T	11.37:g.280449G>T	ENSP00000309767:p.Glu239*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9F3|E9PJZ8	Nonsense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.E239*	ENST00000312165.5	37	c.715	CCDS7693.1	11	.	.	.	.	.	.	.	.	.	.	G	36	5.867440	0.97043	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	.	.	.	3.44	3.44	0.39384	.	0.000000	0.36665	N	0.002474	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	7.3226	0.26536	0.1299:0.0:0.8701:0.0	.	.	.	.	X	239	.	ENSP00000309767:E239X	E	+	1	0	NLRP6	270449	0.615000	0.27026	0.820000	0.32676	0.918000	0.54935	0.883000	0.28200	1.867000	0.54127	0.462000	0.41574	GAG	NLRP6	-	pfscan_NACHT_NTPase		0.692	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP6	HGNC	protein_coding	OTTHUMT00000239283.1	G	NM_138329		280449	+1	no_errors	ENST00000312165	ensembl	human	known	70_37	nonsense	SNP	0.383	T
NOTCH1	4851	genome.wustl.edu	37	9	139393593	139393594	+	Frame_Shift_Ins	INS	-	-	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr9:139393593_139393594insA	ENST00000277541.6	-	32	6127_6128	c.6052_6053insT	c.(6052-6054)cacfs	p.H2018fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2018	HIF1AN-binding. {ECO:0000250}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GACGTCGGCGTGTGAGTTGATG	0.678			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	0																																										SO:0001589	frameshift_variant	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.6052_6053insT	9.37:g.139393593_139393594insA	ENSP00000277541:p.His2018fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q59ED8|Q5SXM3	Frame_Shift_Ins	INS	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.H2018fs	ENST00000277541.6	37	c.6053_6052	CCDS43905.1	9																																																																																			NOTCH1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.678	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	-	NM_017617		139393594	-1	no_errors	ENST00000277541	ensembl	human	known	70_37	frame_shift_ins	INS	0.998:0.998	A
NOTCH1	4851	genome.wustl.edu	37	9	139393593	139393594	+	Frame_Shift_Ins	INS	-	-	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr9:139393593_139393594insA	ENST00000277541.6	-	32	6127_6128	c.6052_6053insT	c.(6052-6054)cacfs	p.H2018fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2018	HIF1AN-binding. {ECO:0000250}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GACGTCGGCGTGTGAGTTGATG	0.678			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	0																																										SO:0001589	frameshift_variant	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.6052_6053insT	9.37:g.139393593_139393594insA	ENSP00000277541:p.His2018fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q59ED8|Q5SXM3	Frame_Shift_Ins	INS	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.H2018fs	ENST00000277541.6	37	c.6053_6052	CCDS43905.1	9																																																																																			NOTCH1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.678	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	-	NM_017617		139393594	-1	no_errors	ENST00000277541	ensembl	human	known	70_37	frame_shift_ins	INS	0.998:0.998	A
ODF3L2	284451	genome.wustl.edu	37	19	474621	474621	+	Splice_Site	SNP	C	C	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr19:474621C>A	ENST00000315489.4	-	1	362	c.127G>T	c.(127-129)Ggc>Tgc	p.G43C	ODF3L2_ENST00000382696.3_Splice_Site_p.A43S	NM_182577.2	NP_872383.1	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	43						cytoplasmic microtubule (GO:0005881)				large_intestine(1)|lung(2)	3						TGGCACGCACCGTTCTCCAGG	0.672																																																	0													27.0	28.0	27.0					19																	474621		2203	4299	6502	SO:0001630	splice_region_variant	284451			AK097378	CCDS12027.1	19p13.3	2010-04-23	2008-07-04	2008-07-04		ENSG00000181781			26841	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 19"""	C19orf19		14702039	Standard	NM_182577		Approved	FLJ40059	uc002lor.3	Q3SX64		ENST00000315489.4:c.127+1G>T	19.37:g.474621C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3SX65|Q8N1L2	Missense_Mutation	SNP	pfam_SHIPPO-rpt	p.G43C	ENST00000315489.4	37	c.127	CCDS12027.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.67|18.67	3.674846|3.674846	0.67928|0.67928	.|.	.|.	ENSG00000181781|ENSG00000181781	ENST00000382696|ENST00000315489	T|D	0.45668|0.93953	0.89|-3.32	3.21|3.21	3.21|3.21	0.36854|0.36854	.|.	.|0.561389	.|0.18901	.|U	.|0.128022	D|D	0.95085|0.95085	0.8408|0.8408	M|M	0.64630|0.64630	1.985|1.985	0.22171|0.22171	N|N	0.999319|0.999319	B|D	0.33694|0.89917	0.421|1.0	B|D	0.29077|0.97110	0.098|1.0	D|D	0.87852|0.87852	0.2658|0.2658	8|9	.|.	.|.	.|.	-19.2517|-19.2517	10.0571|10.0571	0.42252|0.42252	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	43|43	Q3SX64-2|Q3SX64	.|OD3L2_HUMAN	S|C	43|43	ENSP00000372143:A43S|ENSP00000318029:G43C	.|.	A|G	-|-	1|1	0|0	ODF3L2|ODF3L2	425621|425621	0.845000|0.845000	0.29573|0.29573	0.312000|0.312000	0.25196|0.25196	0.506000|0.506000	0.33950|0.33950	1.769000|1.769000	0.38522|0.38522	1.793000|1.793000	0.52555|0.52555	0.561000|0.561000	0.74099|0.74099	GCA|GGC	ODF3L2	-	NULL		0.672	ODF3L2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ODF3L2	HGNC	protein_coding	OTTHUMT00000451849.2	C	NM_182577	Missense_Mutation	474621	-1	no_errors	ENST00000315489	ensembl	human	known	70_37	missense	SNP	0.398	A
OLFM3	118427	genome.wustl.edu	37	1	102290786	102290786	+	Missense_Mutation	SNP	T	T	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr1:102290786T>A	ENST00000338858.5	-	4	447	c.448A>T	c.(448-450)Atg>Ttg	p.M150L	OLFM3_ENST00000536598.1_Missense_Mutation_p.M55L|OLFM3_ENST00000370103.4_Missense_Mutation_p.M130L|OLFM3_ENST00000359814.3_Missense_Mutation_p.M150L|OLFM3_ENST00000462354.1_5'UTR			Q96PB7	NOE3_HUMAN	olfactomedin 3	150					eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		AGCTCGTCCATTTTCTCTTTC	0.403																																																	0													65.0	65.0	65.0					1																	102290786		2203	4300	6503	SO:0001583	missense	118427			AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.448A>T	1.37:g.102290786T>A	ENSP00000345192:p.Met150Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Noelin-1,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like	p.M150L	ENST00000338858.5	37	c.448		1	.	.	.	.	.	.	.	.	.	.	T	15.96	2.988113	0.53934	.	.	ENSG00000118733	ENST00000424771;ENST00000370103;ENST00000338858;ENST00000536598;ENST00000359814	D;D;T;T	0.86956	-2.14;-2.19;-0.15;0.6	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.86932	0.6052	M	0.71581	2.175	0.50632	D	0.99988	B;P	0.35745	0.435;0.518	B;P	0.44647	0.155;0.456	D	0.87693	0.2555	10	0.51188	T	0.08	.	16.1368	0.81492	0.0:0.0:0.0:1.0	.	130;150	Q5T3V6;Q96PB7	.;NOE3_HUMAN	L	1;130;150;55;150	ENSP00000359121:M130L;ENSP00000345192:M150L;ENSP00000443471:M55L;ENSP00000352867:M150L	ENSP00000345192:M150L	M	-	1	0	OLFM3	102063374	1.000000	0.71417	1.000000	0.80357	0.433000	0.31745	8.020000	0.88740	2.213000	0.71641	0.533000	0.62120	ATG	OLFM3	-	superfamily_Quino_amine_DH_bsu		0.403	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	OLFM3	HGNC	protein_coding	OTTHUMT00000030142.1	T			102290786	-1	no_errors	ENST00000338858	ensembl	human	known	70_37	missense	SNP	1.000	A
OR51D1	390038	genome.wustl.edu	37	11	4661675	4661675	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:4661675G>T	ENST00000357605.2	+	1	731	c.655G>T	c.(655-657)Gtc>Ttc	p.V219F	OR51E1_ENST00000396952.5_5'Flank	NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATCCTCTCAGTCATGGGTGT	0.483																																																	0													283.0	236.0	252.0					11																	4661675		2201	4298	6499	SO:0001583	missense	390038			AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"""GPCR / Class A : Olfactory receptors"""	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.655G>T	11.37:g.4661675G>T	ENSP00000350222:p.Val219Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EIK4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V219F	ENST00000357605.2	37	c.655	CCDS31357.1	11	.	.	.	.	.	.	.	.	.	.	G	10.43	1.347776	0.24426	.	.	ENSG00000197428	ENST00000357605	T	0.00188	8.59	4.29	2.37	0.29283	GPCR, rhodopsin-like superfamily (1);	0.181163	0.26563	N	0.023675	T	0.00210	0.0006	L	0.28192	0.835	0.30809	N	0.739088	P	0.50272	0.933	P	0.59171	0.853	T	0.55939	-0.8061	10	0.56958	D	0.05	.	4.9363	0.13943	0.1802:0.0:0.6509:0.169	.	219	Q8NGF3	O51D1_HUMAN	F	219	ENSP00000350222:V219F	ENSP00000350222:V219F	V	+	1	0	OR51D1	4618251	0.000000	0.05858	0.975000	0.42487	0.000000	0.00434	-0.229000	0.09098	0.522000	0.28464	-0.311000	0.09066	GTC	OR51D1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.483	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51D1	HGNC	protein_coding	OTTHUMT00000385956.1	G	NM_001004751		4661675	+1	no_errors	ENST00000357605	ensembl	human	known	70_37	missense	SNP	0.880	T
OR51E2	81285	genome.wustl.edu	37	11	4712242	4712242	+	Intron	SNP	C	C	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:4712242C>A	ENST00000396950.3	-	1	190					NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2						cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		TCTGGGGAAGCAACGCTAAGG	0.433																																																	0																																										SO:0001627	intron_variant	401661			AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"""GPCR / Class A : Olfactory receptors"""	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.49+6640G>T	11.37:g.4712242C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RA63|Q6IF94	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A229S	ENST00000396950.3	37	c.685	CCDS7751.1	11	.	.	.	.	.	.	.	.	.	.	C	14.60	2.585289	0.46110	.	.	ENSG00000197674	ENST00000357764	T	0.35973	1.28	4.67	2.8	0.32819	.	0.123109	0.36740	N	0.002432	T	0.34513	0.0900	.	.	.	0.22066	N	0.999382	.	.	.	.	.	.	T	0.18023	-1.0350	7	0.56958	D	0.05	.	6.2894	0.21051	0.1479:0.6857:0.0:0.1664	.	.	.	.	S	229	ENSP00000350408:A229S	ENSP00000350408:A229S	A	-	1	0	OR51C1P	4668818	0.040000	0.19996	0.991000	0.47740	0.823000	0.46562	0.352000	0.20113	0.686000	0.31488	0.650000	0.86243	GCT	OR51C1P	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.433	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51C1P	HGNC	protein_coding	OTTHUMT00000257198.1	C	NM_030774		4712242	-1	no_errors	ENST00000357764	ensembl	human	known	70_37	missense	SNP	0.529	A
OR6B1	135946	genome.wustl.edu	37	7	143701486	143701486	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr7:143701486C>A	ENST00000408922.2	+	1	465	c.397C>A	c.(397-399)Cca>Aca	p.P133T		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					ACTCCACTACCCAACCATAAT	0.547																																																	0													87.0	91.0	90.0					7																	143701486		2155	4285	6440	SO:0001583	missense	135946				CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.397C>A	7.37:g.143701486C>A	ENSP00000386151:p.Pro133Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2G2|B9EH47|Q6IFP6|Q96R38	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P133T	ENST00000408922.2	37	c.397	CCDS43667.1	7	.	.	.	.	.	.	.	.	.	.	C	9.447	1.089565	0.20390	.	.	ENSG00000221813	ENST00000408922	T	0.02301	4.35	5.26	4.36	0.52297	GPCR, rhodopsin-like superfamily (1);	0.216774	0.23103	U	0.051893	T	0.01730	0.0055	N	0.24115	0.695	0.24878	N	0.992241	B	0.12013	0.005	B	0.20184	0.028	T	0.47560	-0.9108	10	0.18276	T	0.48	.	6.0236	0.19642	0.1828:0.7191:0.0:0.0981	.	133	O95007	OR6B1_HUMAN	T	133	ENSP00000386151:P133T	ENSP00000386151:P133T	P	+	1	0	OR6B1	143332419	0.000000	0.05858	0.904000	0.35570	0.659000	0.38960	-0.576000	0.05854	1.386000	0.46466	0.655000	0.94253	CCA	OR6B1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.547	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6B1	HGNC	protein_coding	OTTHUMT00000349566.1	C			143701486	+1	no_errors	ENST00000408922	ensembl	human	known	70_37	missense	SNP	0.534	A
OTUD4	54726	genome.wustl.edu	37	4	146059410	146059410	+	Silent	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr4:146059410C>T	ENST00000447906.2	-	21	2704	c.2517G>A	c.(2515-2517)caG>caA	p.Q839Q	OTUD4_ENST00000454497.2_Silent_p.Q774Q|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	839					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CAAAAGATGGCTGGGGGAACA	0.458																																																	0													72.0	68.0	69.0					4																	146059410		2203	4300	6503	SO:0001819	synonymous_variant	54726				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2517G>A	4.37:g.146059410C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Silent	SNP	pfam_OTU,pfscan_OTU	p.Q839	ENST00000447906.2	37	c.2517		4																																																																																			OTUD4	-	NULL		0.458	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	OTUD4	HGNC	protein_coding	OTTHUMT00000365117.2	C	NM_017493		146059410	-1	no_errors	ENST00000447906	ensembl	human	known	70_37	silent	SNP	0.112	T
OTUD4	54726	genome.wustl.edu	37	4	146059410	146059410	+	Silent	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr4:146059410C>T	ENST00000447906.2	-	21	2704	c.2517G>A	c.(2515-2517)caG>caA	p.Q839Q	OTUD4_ENST00000454497.2_Silent_p.Q774Q|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	839					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CAAAAGATGGCTGGGGGAACA	0.458																																																	0													72.0	68.0	69.0					4																	146059410		2203	4300	6503	SO:0001819	synonymous_variant	54726				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2517G>A	4.37:g.146059410C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Silent	SNP	pfam_OTU,pfscan_OTU	p.Q839	ENST00000447906.2	37	c.2517		4																																																																																			OTUD4	-	NULL		0.458	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	OTUD4	HGNC	protein_coding	OTTHUMT00000365117.2	C	NM_017493		146059410	-1	no_errors	ENST00000447906	ensembl	human	known	70_37	silent	SNP	0.112	T
P2RX3	5024	genome.wustl.edu	37	11	57108108	57108108	+	Intron	SNP	C	C	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:57108108C>A	ENST00000263314.2	+	1	153				P2RX3_ENST00000533436.1_3'UTR	NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3						behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						acagggtcctcgccctcctgg	0.502																																																	0																																										SO:0001627	intron_variant	5024			Y07683	CCDS7953.1	11q12	2012-01-17			ENSG00000109991	ENSG00000109991		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8534	protein-coding gene	gene with protein product		600843				9221902	Standard	NM_002559		Approved	P2X3	uc001nju.3	P56373	OTTHUMG00000167025	ENST00000263314.2:c.119+1965C>A	11.37:g.57108108C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6DK37|Q9UQB6	RNA	SNP	-	NULL	ENST00000263314.2	37	NULL	CCDS7953.1	11																																																																																			P2RX3	-	-		0.502	P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RX3	HGNC	protein_coding	OTTHUMT00000392465.1	C	NM_002559		57108108	+1	no_errors	ENST00000533436	ensembl	human	known	70_37	rna	SNP	0.000	A
PAOX	196743	genome.wustl.edu	37	10	135195106	135195106	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr10:135195106G>C	ENST00000278060.5	+	3	894	c.811G>C	c.(811-813)Gag>Cag	p.E271Q	AL360181.1_ENST00000597657.1_5'Flank|PAOX_ENST00000480071.2_Missense_Mutation_p.E271Q|PAOX_ENST00000357296.3_Missense_Mutation_p.E271Q|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000368539.4_3'UTR	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	409					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	peroxisomal matrix (GO:0005782)	N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		AGTGTCGGTAGAGTGTGAGGA	0.587																																																	0													89.0	78.0	82.0					10																	135195106		2203	4300	6503	SO:0001583	missense	196743			BC032778	CCDS7682.1, CCDS7683.1, CCDS7684.1	10q26.3	2003-11-13			ENSG00000148832	ENSG00000148832			20837	protein-coding gene	gene with protein product		615853				12660232	Standard	NM_207127		Approved	PAO	uc001lmv.3	Q6QHF9	OTTHUMG00000019318	ENST00000278060.5:c.811G>C	10.37:g.135195106G>C	ENSP00000278060:p.Glu271Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Missense_Mutation	SNP	pfam_Amino_oxidase	p.E271Q	ENST00000278060.5	37	c.811	CCDS7683.1	10	.	.	.	.	.	.	.	.	.	.	G	14.54	2.565800	0.45694	.	.	ENSG00000148832	ENST00000368542;ENST00000278060;ENST00000357296;ENST00000480071	D;D;D	0.92099	-2.97;-2.97;-2.97	4.91	4.91	0.64330	.	0.180484	0.48286	D	0.000200	D	0.93350	0.7880	L	0.53780	1.695	0.80722	D	1	D;P;D	0.67145	0.957;0.594;0.996	P;P;P	0.59487	0.785;0.561;0.858	D	0.91325	0.5085	10	0.23891	T	0.37	-33.0773	15.6211	0.76808	0.0:0.0:1.0:0.0	.	271;271;271	Q6QHF9-5;Q6QHF9-4;Q6QHF9-2	.;.;.	Q	271	ENSP00000278060:E271Q;ENSP00000349847:E271Q;ENSP00000435514:E271Q	ENSP00000278060:E271Q	E	+	1	0	PAOX	135045096	1.000000	0.71417	1.000000	0.80357	0.026000	0.11368	7.187000	0.77730	2.545000	0.85829	0.514000	0.50259	GAG	PAOX	-	pfam_Amino_oxidase		0.587	PAOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAOX	HGNC	protein_coding	OTTHUMT00000051146.2	G	NM_152911		135195106	+1	no_errors	ENST00000278060	ensembl	human	known	70_37	missense	SNP	1.000	C
PAOX	196743	genome.wustl.edu	37	10	135195106	135195106	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr10:135195106G>C	ENST00000278060.5	+	3	894	c.811G>C	c.(811-813)Gag>Cag	p.E271Q	AL360181.1_ENST00000597657.1_5'Flank|PAOX_ENST00000480071.2_Missense_Mutation_p.E271Q|PAOX_ENST00000357296.3_Missense_Mutation_p.E271Q|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000368539.4_3'UTR	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	409					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	peroxisomal matrix (GO:0005782)	N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		AGTGTCGGTAGAGTGTGAGGA	0.587																																																	0													89.0	78.0	82.0					10																	135195106		2203	4300	6503	SO:0001583	missense	196743			BC032778	CCDS7682.1, CCDS7683.1, CCDS7684.1	10q26.3	2003-11-13			ENSG00000148832	ENSG00000148832			20837	protein-coding gene	gene with protein product		615853				12660232	Standard	NM_207127		Approved	PAO	uc001lmv.3	Q6QHF9	OTTHUMG00000019318	ENST00000278060.5:c.811G>C	10.37:g.135195106G>C	ENSP00000278060:p.Glu271Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Missense_Mutation	SNP	pfam_Amino_oxidase	p.E271Q	ENST00000278060.5	37	c.811	CCDS7683.1	10	.	.	.	.	.	.	.	.	.	.	G	14.54	2.565800	0.45694	.	.	ENSG00000148832	ENST00000368542;ENST00000278060;ENST00000357296;ENST00000480071	D;D;D	0.92099	-2.97;-2.97;-2.97	4.91	4.91	0.64330	.	0.180484	0.48286	D	0.000200	D	0.93350	0.7880	L	0.53780	1.695	0.80722	D	1	D;P;D	0.67145	0.957;0.594;0.996	P;P;P	0.59487	0.785;0.561;0.858	D	0.91325	0.5085	10	0.23891	T	0.37	-33.0773	15.6211	0.76808	0.0:0.0:1.0:0.0	.	271;271;271	Q6QHF9-5;Q6QHF9-4;Q6QHF9-2	.;.;.	Q	271	ENSP00000278060:E271Q;ENSP00000349847:E271Q;ENSP00000435514:E271Q	ENSP00000278060:E271Q	E	+	1	0	PAOX	135045096	1.000000	0.71417	1.000000	0.80357	0.026000	0.11368	7.187000	0.77730	2.545000	0.85829	0.514000	0.50259	GAG	PAOX	-	pfam_Amino_oxidase		0.587	PAOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAOX	HGNC	protein_coding	OTTHUMT00000051146.2	G	NM_152911		135195106	+1	no_errors	ENST00000278060	ensembl	human	known	70_37	missense	SNP	1.000	C
PATZ1	23598	genome.wustl.edu	37	22	31741282	31741282	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr22:31741282C>G	ENST00000266269.5	-	1	936	c.307G>C	c.(307-309)Gag>Cag	p.E103Q	PATZ1_ENST00000405309.3_Missense_Mutation_p.E103Q|PATZ1_ENST00000215919.3_Missense_Mutation_p.E103Q|AC005003.1_ENST00000504184.2_5'Flank|PATZ1_ENST00000351933.4_Missense_Mutation_p.E103Q	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	103	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						ATCTCCAGCTCCCGGCTGCCC	0.667																																																	0													34.0	36.0	35.0					22																	31741282		2203	4300	6503	SO:0001583	missense	23598			AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13071	protein-coding gene	gene with protein product		605165	"""zinc finger protein 278"""	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.307G>C	22.37:g.31741282C>G	ENSP00000266269:p.Glu103Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E103Q	ENST00000266269.5	37	c.307	CCDS13894.1	22	.	.	.	.	.	.	.	.	.	.	C	26.6	4.749740	0.89753	.	.	ENSG00000100105	ENST00000266269;ENST00000405309;ENST00000351933;ENST00000215919	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	4.42	4.42	0.53409	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.290763	0.33515	N	0.004827	T	0.75162	0.3812	L	0.39326	1.205	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.994;0.994;0.996;0.994	T	0.76759	-0.2841	10	0.49607	T	0.09	-21.4514	16.0241	0.80528	0.0:1.0:0.0:0.0	.	103;103;103;103	Q9HBE1-4;Q9HBE1-3;Q9HBE1;Q9HBE1-2	.;.;PATZ1_HUMAN;.	Q	103	ENSP00000266269:E103Q;ENSP00000384173:E103Q;ENSP00000337520:E103Q;ENSP00000215919:E103Q	ENSP00000215919:E103Q	E	-	1	0	PATZ1	30071282	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.166000	0.77553	1.997000	0.58415	0.561000	0.74099	GAG	PATZ1	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like		0.667	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATZ1	HGNC	protein_coding	OTTHUMT00000321932.1	C	NM_032052		31741282	-1	no_errors	ENST00000266269	ensembl	human	known	70_37	missense	SNP	1.000	G
PATZ1	23598	genome.wustl.edu	37	22	31741282	31741282	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr22:31741282C>G	ENST00000266269.5	-	1	936	c.307G>C	c.(307-309)Gag>Cag	p.E103Q	PATZ1_ENST00000405309.3_Missense_Mutation_p.E103Q|PATZ1_ENST00000215919.3_Missense_Mutation_p.E103Q|AC005003.1_ENST00000504184.2_5'Flank|PATZ1_ENST00000351933.4_Missense_Mutation_p.E103Q	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	103	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						ATCTCCAGCTCCCGGCTGCCC	0.667																																																	0													34.0	36.0	35.0					22																	31741282		2203	4300	6503	SO:0001583	missense	23598			AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13071	protein-coding gene	gene with protein product		605165	"""zinc finger protein 278"""	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.307G>C	22.37:g.31741282C>G	ENSP00000266269:p.Glu103Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E103Q	ENST00000266269.5	37	c.307	CCDS13894.1	22	.	.	.	.	.	.	.	.	.	.	C	26.6	4.749740	0.89753	.	.	ENSG00000100105	ENST00000266269;ENST00000405309;ENST00000351933;ENST00000215919	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	4.42	4.42	0.53409	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.290763	0.33515	N	0.004827	T	0.75162	0.3812	L	0.39326	1.205	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.994;0.994;0.996;0.994	T	0.76759	-0.2841	10	0.49607	T	0.09	-21.4514	16.0241	0.80528	0.0:1.0:0.0:0.0	.	103;103;103;103	Q9HBE1-4;Q9HBE1-3;Q9HBE1;Q9HBE1-2	.;.;PATZ1_HUMAN;.	Q	103	ENSP00000266269:E103Q;ENSP00000384173:E103Q;ENSP00000337520:E103Q;ENSP00000215919:E103Q	ENSP00000215919:E103Q	E	-	1	0	PATZ1	30071282	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.166000	0.77553	1.997000	0.58415	0.561000	0.74099	GAG	PATZ1	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like		0.667	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATZ1	HGNC	protein_coding	OTTHUMT00000321932.1	C	NM_032052		31741282	-1	no_errors	ENST00000266269	ensembl	human	known	70_37	missense	SNP	1.000	G
PCDHA9	9752	genome.wustl.edu	37	5	140228212	140228212	+	Silent	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr5:140228212C>T	ENST00000532602.1	+	1	1165	c.132C>T	c.(130-132)ttC>ttT	p.F44F	PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000378122.3_Silent_p.F44F|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	44	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGCACCTTCGTGGGCCGCA	0.657																																					Melanoma(55;1800 1972 14909)												0													54.0	58.0	57.0					5																	140228212		2197	4263	6460	SO:0001819	synonymous_variant	9752			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.132C>T	5.37:g.140228212C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O15053|Q2M3S5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.F44	ENST00000532602.1	37	c.132	CCDS54920.1	5																																																																																			PCDHA9	-	pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin		0.657	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA9	HGNC	protein_coding	OTTHUMT00000372896.2	C	NM_031857		140228212	+1	no_errors	ENST00000532602	ensembl	human	known	70_37	silent	SNP	0.897	T
PCDHA9	9752	genome.wustl.edu	37	5	140228212	140228212	+	Silent	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr5:140228212C>T	ENST00000532602.1	+	1	1165	c.132C>T	c.(130-132)ttC>ttT	p.F44F	PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000378122.3_Silent_p.F44F|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	44	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGCACCTTCGTGGGCCGCA	0.657																																					Melanoma(55;1800 1972 14909)												0													54.0	58.0	57.0					5																	140228212		2197	4263	6460	SO:0001819	synonymous_variant	9752			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.132C>T	5.37:g.140228212C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O15053|Q2M3S5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.F44	ENST00000532602.1	37	c.132	CCDS54920.1	5																																																																																			PCDHA9	-	pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin		0.657	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA9	HGNC	protein_coding	OTTHUMT00000372896.2	C	NM_031857		140228212	+1	no_errors	ENST00000532602	ensembl	human	known	70_37	silent	SNP	0.897	T
PDS5A	23244	genome.wustl.edu	37	4	39850476	39850476	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr4:39850476C>T	ENST00000303538.8	-	28	3873	c.3334G>A	c.(3334-3336)Gaa>Aaa	p.E1112K		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						ATTACCTTTTCAGGTTGTGTA	0.363																																																	0													81.0	79.0	79.0					4																	39850476		1825	4089	5914	SO:0001583	missense	23244			AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.3334G>A	4.37:g.39850476C>T	ENSP00000303427:p.Glu1112Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E1112K	ENST00000303538.8	37	c.3334	CCDS47045.1	4	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198626	0.79015	.	.	ENSG00000121892	ENST00000303538	.	.	.	5.47	5.47	0.80525	.	0.047188	0.85682	D	0.000000	T	0.44350	0.1289	N	0.14661	0.345	0.80722	D	1	B	0.25719	0.132	B	0.28916	0.096	T	0.30707	-0.9969	8	.	.	.	-19.2423	19.3219	0.94245	0.0:1.0:0.0:0.0	.	1112	Q29RF7	PDS5A_HUMAN	K	1112	.	.	E	-	1	0	PDS5A	39526871	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.298000	0.78815	2.538000	0.85594	0.655000	0.94253	GAA	PDS5A	-	NULL		0.363	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5A	HGNC	protein_coding	OTTHUMT00000361287.1	C	NM_015200		39850476	-1	no_errors	ENST00000303538	ensembl	human	known	70_37	missense	SNP	1.000	T
PGBD5	79605	genome.wustl.edu	37	1	230486821	230486821	+	Silent	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr1:230486821C>T	ENST00000525115.1	-	3	593	c.570G>A	c.(568-570)ctG>ctA	p.L190L	PGBD5_ENST00000321327.2_Silent_p.L289L|PGBD5_ENST00000391860.1_Silent_p.L144L			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	190						integral component of membrane (GO:0016021)		p.L289L(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		CCTCATCGATCAGGGGTTCAT	0.522																																																	1	Substitution - coding silent(1)	lung(1)											89.0	74.0	79.0					1																	230486821		2203	4300	6503	SO:0001819	synonymous_variant	79605			AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.570G>A	1.37:g.230486821C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJF3|B9EK58|Q5SR37|Q6PJN2	Silent	SNP	NULL	p.L289	ENST00000525115.1	37	c.867		1																																																																																			PGBD5	-	NULL		0.522	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	PGBD5	HGNC	protein_coding	OTTHUMT00000382617.1	C	NM_024554		230486821	-1	no_errors	ENST00000321327	ensembl	human	known	70_37	silent	SNP	1.000	T
PHKG2	5261	genome.wustl.edu	37	16	30768370	30768370	+	Silent	SNP	A	A	C			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr16:30768370A>C	ENST00000563588.1	+	10	1412	c.1173A>C	c.(1171-1173)ggA>ggC	p.G391G	PHKG2_ENST00000424889.3_Intron|PHKG2_ENST00000328273.7_Silent_p.G395G	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	391					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|positive regulation of glycogen catabolic process (GO:0045819)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			ovary(1)|skin(1)	2			Colorectal(24;0.198)			AAGAGGAGGGAGACTCTGCTG	0.592																																																	0													71.0	81.0	78.0					16																	30768370		2195	4300	6495	SO:0001819	synonymous_variant	5261			S73483, M31606	CCDS10690.1, CCDS54002.1	16p11.2	2008-02-05			ENSG00000156873	ENSG00000156873			8931	protein-coding gene	gene with protein product		172471				2915644, 8020963	Standard	NM_000294		Approved		uc021tgo.1	P15735	OTTHUMG00000132400	ENST00000563588.1:c.1173A>C	16.37:g.30768370A>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0C7|B4DEB7|E9PEU3|P11800	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,prints_Phosph_kin_gamma,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G391	ENST00000563588.1	37	c.1173	CCDS10690.1	16																																																																																			PHKG2	-	NULL		0.592	PHKG2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHKG2	HGNC	protein_coding	OTTHUMT00000255531.2	A	NM_000294		30768370	+1	no_errors	ENST00000563588	ensembl	human	known	70_37	silent	SNP	0.316	C
PHTF1	10745	genome.wustl.edu	37	1	114254388	114254388	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr1:114254388C>A	ENST00000369604.1	-	10	1510	c.1027G>T	c.(1027-1029)Gaa>Taa	p.E343*	PHTF1_ENST00000369598.1_Nonsense_Mutation_p.E298*|PHTF1_ENST00000357783.2_Nonsense_Mutation_p.E343*|PHTF1_ENST00000369600.1_Nonsense_Mutation_p.E290*|PHTF1_ENST00000393357.2_Nonsense_Mutation_p.E343*|PHTF1_ENST00000369596.2_Nonsense_Mutation_p.E290*|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000447664.2_3'UTR			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	343					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTGCTGATTCAAATTCTGAT	0.383																																																	0													59.0	59.0	59.0					1																	114254388		2203	4300	6503	SO:0001587	stop_gained	10745			AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.1027G>T	1.37:g.114254388C>A	ENSP00000358617:p.Glu343*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Nonsense_Mutation	SNP	pfam_TF_homeodomain_male	p.E343*	ENST00000369604.1	37	c.1027	CCDS861.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.51|19.51	3.841845|3.841845	0.71488|0.71488	.|.	.|.	ENSG00000116793|ENSG00000116793	ENST00000369597;ENST00000393357;ENST00000369596;ENST00000369598;ENST00000369600;ENST00000369604;ENST00000357783|ENST00000412670	.|.	.|.	.|.	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	0.058900|.	0.64402|.	D|.	0.000003|.	.|T	.|0.67608	.|0.2911	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.64993	.|-0.6276	.|4	0.05436|.	T|.	0.98|.	-25.2297|-25.2297	17.3773|17.3773	0.87396|0.87396	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|F	298;343;290;298;290;343;343|98	.|.	ENSP00000350428:E343X|.	E|L	-|-	1|3	0|2	PHTF1|PHTF1	114055911|114055911	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.655000|0.655000	0.38815|0.38815	4.849000|4.849000	0.62882|0.62882	2.767000|2.767000	0.95098|0.95098	0.557000|0.557000	0.71058|0.71058	GAA|TTG	PHTF1	-	NULL		0.383	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHTF1	HGNC	protein_coding	OTTHUMT00000032666.1	C	NM_006608		114254388	-1	no_errors	ENST00000369604	ensembl	human	known	70_37	nonsense	SNP	1.000	A
HTRA4	203100	genome.wustl.edu	37	8	38830302	38830302	+	5'Flank	SNP	A	A	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr8:38830302A>T	ENST00000302495.4	+	0	0				PLEKHA2_ENST00000420274.1_3'UTR|PLEKHA2_ENST00000388745.4_3'UTR|CTD-2544N14.3_ENST00000520863.1_RNA	NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4						negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			TTTTTTTTTTAAAGGAACTAA	0.348																																																	0																																										SO:0001631	upstream_gene_variant	59339			AK075205	CCDS6110.1	8p11.23	2008-02-05			ENSG00000169495	ENSG00000169495			26909	protein-coding gene	gene with protein product		610700					Standard	NM_153692		Approved	FLJ90724	uc003xmj.3	P83105	OTTHUMG00000164070		8.37:g.38830302A>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	Q542Z4|Q6PF13	RNA	SNP	-	NULL	ENST00000302495.4	37	NULL	CCDS6110.1	8																																																																																			PLEKHA2	-	-		0.348	HTRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA2	HGNC	protein_coding	OTTHUMT00000377077.1	A	NM_153692		38830302	+1	no_errors	ENST00000388745	ensembl	human	known	70_37	rna	SNP	0.001	T
POLR3E	55718	genome.wustl.edu	37	16	22343428	22343428	+	Silent	SNP	C	C	G			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr16:22343428C>G	ENST00000299853.5	+	20	2159	c.1992C>G	c.(1990-1992)cgC>cgG	p.R664R	POLR3E_ENST00000359210.4_Intron|POLR3E_ENST00000564209.1_Intron|POLR3E_ENST00000418581.2_Silent_p.R628R	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	664					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		ACCGGGTACGCCGAAACATGA	0.393																																																	0													103.0	101.0	102.0					16																	22343428		2197	4300	6497	SO:0001819	synonymous_variant	55718			AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.1992C>G	16.37:g.22343428C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Silent	SNP	pfam_RNA_pol_III_Rpc5	p.R664	ENST00000299853.5	37	c.1992	CCDS10605.1	16																																																																																			POLR3E	-	NULL		0.393	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3E	HGNC	protein_coding	OTTHUMT00000211590.1	C	NM_018119		22343428	+1	no_errors	ENST00000299853	ensembl	human	known	70_37	silent	SNP	0.998	G
POLR3E	55718	genome.wustl.edu	37	16	22343428	22343428	+	Silent	SNP	C	C	G			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr16:22343428C>G	ENST00000299853.5	+	20	2159	c.1992C>G	c.(1990-1992)cgC>cgG	p.R664R	POLR3E_ENST00000359210.4_Intron|POLR3E_ENST00000564209.1_Intron|POLR3E_ENST00000418581.2_Silent_p.R628R	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	664					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		ACCGGGTACGCCGAAACATGA	0.393																																																	0													103.0	101.0	102.0					16																	22343428		2197	4300	6497	SO:0001819	synonymous_variant	55718			AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.1992C>G	16.37:g.22343428C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Silent	SNP	pfam_RNA_pol_III_Rpc5	p.R664	ENST00000299853.5	37	c.1992	CCDS10605.1	16																																																																																			POLR3E	-	NULL		0.393	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3E	HGNC	protein_coding	OTTHUMT00000211590.1	C	NM_018119		22343428	+1	no_errors	ENST00000299853	ensembl	human	known	70_37	silent	SNP	0.998	G
POLRMT	5442	genome.wustl.edu	37	19	617576	617576	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr19:617576C>A	ENST00000588649.2	-	19	3659	c.3575G>T	c.(3574-3576)tGc>tTc	p.C1192F	AC005559.2_ENST00000591847.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	1192	Mediates interaction with TEFM.				gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTACTCAGAGCAGAACCGCTT	0.637																																																	0													42.0	41.0	41.0					19																	617576		2203	4300	6503	SO:0001583	missense	5442				CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.3575G>T	19.37:g.617576C>A	ENSP00000465759:p.Cys1192Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	O60370	Missense_Mutation	SNP	pfam_DNA-dir_Rpol_phage-type	p.C1207F	ENST00000588649.2	37	c.3620	CCDS12036.1	19	.	.	.	.	.	.	.	.	.	.	.	17.14	3.314140	0.60414	.	.	ENSG00000099821	ENST00000215591	T	0.40476	1.03	3.58	3.58	0.41010	.	0.053054	0.85682	D	0.000000	T	0.57110	0.2031	L	0.55990	1.75	0.53005	D	0.999961	D	0.58970	0.984	D	0.67900	0.954	T	0.61451	-0.7060	10	0.59425	D	0.04	-33.822	14.3638	0.66792	0.0:1.0:0.0:0.0	.	1192	O00411	RPOM_HUMAN	F	1192	ENSP00000215591:C1192F	ENSP00000215591:C1192F	C	-	2	0	POLRMT	568576	1.000000	0.71417	0.609000	0.28983	0.016000	0.09150	4.533000	0.60615	1.842000	0.53543	0.486000	0.48141	TGC	POLRMT	-	pfam_DNA-dir_Rpol_phage-type		0.637	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	POLRMT	HGNC	protein_coding	OTTHUMT00000452172.3	C	NM_005035		617576	-1	no_errors	ENST00000588649	ensembl	human	known	70_37	missense	SNP	1.000	A
PPL	5493	genome.wustl.edu	37	16	4936024	4936024	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr16:4936024C>G	ENST00000345988.2	-	22	2721	c.2632G>C	c.(2632-2634)Gag>Cag	p.E878Q	PPL_ENST00000590782.2_Missense_Mutation_p.E876Q	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	878					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGCAGGGTCTCATGGGTCACT	0.572																																																	0													61.0	63.0	62.0					16																	4936024		2197	4300	6497	SO:0001583	missense	5493			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.2632G>C	16.37:g.4936024C>G	ENSP00000340510:p.Glu878Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O60314|O60454|Q14C98	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.E878Q	ENST00000345988.2	37	c.2632	CCDS10526.1	16	.	.	.	.	.	.	.	.	.	.	C	15.49	2.848997	0.51164	.	.	ENSG00000118898	ENST00000345988	T	0.50277	0.75	5.19	4.23	0.50019	.	0.492998	0.21462	N	0.074160	T	0.51568	0.1682	L	0.46157	1.445	0.33972	D	0.646918	D	0.63880	0.993	P	0.55713	0.782	T	0.57533	-0.7795	10	0.13853	T	0.58	.	13.61	0.62071	0.0:0.9248:0.0:0.0752	.	878	O60437	PEPL_HUMAN	Q	878	ENSP00000340510:E878Q	ENSP00000340510:E878Q	E	-	1	0	PPL	4876025	0.727000	0.28069	0.032000	0.17829	0.239000	0.25481	1.405000	0.34635	1.185000	0.42971	0.455000	0.32223	GAG	PPL	-	NULL		0.572	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPL	HGNC	protein_coding	OTTHUMT00000251715.1	C	NM_002705		4936024	-1	no_errors	ENST00000345988	ensembl	human	known	70_37	missense	SNP	0.610	G
PPL	5493	genome.wustl.edu	37	16	4936024	4936024	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr16:4936024C>G	ENST00000345988.2	-	22	2721	c.2632G>C	c.(2632-2634)Gag>Cag	p.E878Q	PPL_ENST00000590782.2_Missense_Mutation_p.E876Q	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	878					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGCAGGGTCTCATGGGTCACT	0.572																																																	0													61.0	63.0	62.0					16																	4936024		2197	4300	6497	SO:0001583	missense	5493			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.2632G>C	16.37:g.4936024C>G	ENSP00000340510:p.Glu878Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O60314|O60454|Q14C98	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.E878Q	ENST00000345988.2	37	c.2632	CCDS10526.1	16	.	.	.	.	.	.	.	.	.	.	C	15.49	2.848997	0.51164	.	.	ENSG00000118898	ENST00000345988	T	0.50277	0.75	5.19	4.23	0.50019	.	0.492998	0.21462	N	0.074160	T	0.51568	0.1682	L	0.46157	1.445	0.33972	D	0.646918	D	0.63880	0.993	P	0.55713	0.782	T	0.57533	-0.7795	10	0.13853	T	0.58	.	13.61	0.62071	0.0:0.9248:0.0:0.0752	.	878	O60437	PEPL_HUMAN	Q	878	ENSP00000340510:E878Q	ENSP00000340510:E878Q	E	-	1	0	PPL	4876025	0.727000	0.28069	0.032000	0.17829	0.239000	0.25481	1.405000	0.34635	1.185000	0.42971	0.455000	0.32223	GAG	PPL	-	NULL		0.572	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPL	HGNC	protein_coding	OTTHUMT00000251715.1	C	NM_002705		4936024	-1	no_errors	ENST00000345988	ensembl	human	known	70_37	missense	SNP	0.610	G
PPP1R12A	4659	genome.wustl.edu	37	12	80201041	80201042	+	Frame_Shift_Ins	INS	-	-	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr12:80201041_80201042insT	ENST00000450142.2	-	12	1885_1886	c.1619_1620insA	c.(1618-1620)aatfs	p.N540fs	PPP1R12A_ENST00000550107.1_Frame_Shift_Ins_p.N540fs|PPP1R12A_ENST00000546369.1_Frame_Shift_Ins_p.N453fs|AC073569.1_ENST00000598624.1_Intron|PPP1R12A_ENST00000261207.5_Frame_Shift_Ins_p.N540fs|PPP1R12A_ENST00000437004.2_Frame_Shift_Ins_p.N540fs	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	540	Ser/Thr-rich.				centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						TAACTGAGCTATTTTTTTTAAG	0.302																																																	0																																										SO:0001589	frameshift_variant	4659			D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7618	protein-coding gene	gene with protein product	"""myosin phosphatase-targeting subunit 1"", ""myosin binding subunit"""	602021	"""protein phosphatase 1, regulatory (inhibitor) subunit 12A"""	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.1620dupA	12.37:g.80201049_80201049dupT	ENSP00000389168:p.Asn540fs	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Frame_Shift_Ins	INS	pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.N540fs	ENST00000450142.2	37	c.1620_1619	CCDS44947.1	12																																																																																			PPP1R12A	-	pirsf_Pase-1_reg_su_12A/B/C_euk		0.302	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R12A	HGNC	protein_coding	OTTHUMT00000407254.2	-	NM_002480		80201042	-1	no_errors	ENST00000261207	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	T
PPP2R1B	5519	genome.wustl.edu	37	11	111635535	111635535	+	Silent	SNP	A	A	G			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:111635535A>G	ENST00000527614.1	-	3	365	c.300T>C	c.(298-300)tgT>tgC	p.C100C	PPP2R1B_ENST00000341980.6_Silent_p.C100C|PPP2R1B_ENST00000426998.2_Intron|PPP2R1B_ENST00000427203.2_5'UTR|PPP2R1B_ENST00000311129.5_Silent_p.C100C|PPP2R1B_ENST00000393055.2_Silent_p.C100C	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	100					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		TCACCAGCAGACAGTGGGCAA	0.418																																																	0													88.0	81.0	83.0					11																	111635535		2201	4297	6498	SO:0001819	synonymous_variant	5519			AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9303	protein-coding gene	gene with protein product	"""PP2A-A-beta"", ""protein phosphatase 2A, regulatory subunit A, beta isoform"""	603113	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"""			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.300T>C	11.37:g.111635535A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Silent	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.C100	ENST00000527614.1	37	c.300	CCDS8349.1	11																																																																																			PPP2R1B	-	superfamily_ARM-type_fold		0.418	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PPP2R1B	HGNC	protein_coding	OTTHUMT00000391298.1	A	NM_002716		111635535	-1	no_errors	ENST00000311129	ensembl	human	known	70_37	silent	SNP	1.000	G
PPP2R1B	5519	genome.wustl.edu	37	11	111635535	111635535	+	Silent	SNP	A	A	G			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:111635535A>G	ENST00000527614.1	-	3	365	c.300T>C	c.(298-300)tgT>tgC	p.C100C	PPP2R1B_ENST00000341980.6_Silent_p.C100C|PPP2R1B_ENST00000426998.2_Intron|PPP2R1B_ENST00000427203.2_5'UTR|PPP2R1B_ENST00000311129.5_Silent_p.C100C|PPP2R1B_ENST00000393055.2_Silent_p.C100C	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	100					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		TCACCAGCAGACAGTGGGCAA	0.418																																																	0													88.0	81.0	83.0					11																	111635535		2201	4297	6498	SO:0001819	synonymous_variant	5519			AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9303	protein-coding gene	gene with protein product	"""PP2A-A-beta"", ""protein phosphatase 2A, regulatory subunit A, beta isoform"""	603113	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"""			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.300T>C	11.37:g.111635535A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Silent	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.C100	ENST00000527614.1	37	c.300	CCDS8349.1	11																																																																																			PPP2R1B	-	superfamily_ARM-type_fold		0.418	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PPP2R1B	HGNC	protein_coding	OTTHUMT00000391298.1	A	NM_002716		111635535	-1	no_errors	ENST00000311129	ensembl	human	known	70_37	silent	SNP	1.000	G
PRG4	10216	genome.wustl.edu	37	1	186277493	186277493	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr1:186277493C>T	ENST00000445192.2	+	7	2687	c.2642C>T	c.(2641-2643)tCt>tTt	p.S881F	PRG4_ENST00000367484.3_Missense_Mutation_p.S410F|PRG4_ENST00000367485.4_Missense_Mutation_p.S788F|PRG4_ENST00000367486.3_Missense_Mutation_p.S838F|PRG4_ENST00000367483.4_Missense_Mutation_p.S840F	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	881					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCTGAGCTTTCTGCAGAACCC	0.483																																																	0													147.0	151.0	150.0					1																	186277493		2203	4300	6503	SO:0001583	missense	10216			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2642C>T	1.37:g.186277493C>T	ENSP00000399679:p.Ser881Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.S881F	ENST00000445192.2	37	c.2642	CCDS1369.1	1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.505953	0.26949	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.05382	3.45;3.53;3.58;3.46;3.57	2.34	2.34	0.29019	.	1.199790	0.06590	U	0.751846	T	0.05273	0.0140	N	0.14661	0.345	0.09310	N	0.999995	P;P;P;P	0.46327	0.876;0.876;0.804;0.876	B;B;B;B	0.37888	0.26;0.26;0.133;0.26	T	0.49173	-0.8967	10	0.62326	D	0.03	-0.0019	13.4839	0.61353	0.0:1.0:0.0:0.0	.	747;788;881;840	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	F	838;410;747;840;788;881	ENSP00000356456:S838F;ENSP00000356454:S410F;ENSP00000356453:S840F;ENSP00000356455:S788F;ENSP00000399679:S881F	ENSP00000356452:S747F	S	+	2	0	PRG4	184544116	0.000000	0.05858	0.003000	0.11579	0.385000	0.30292	-0.177000	0.09796	1.284000	0.44531	0.413000	0.27773	TCT	PRG4	-	NULL		0.483	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	HGNC	protein_coding	OTTHUMT00000086346.1	C	NM_005807		186277493	+1	no_errors	ENST00000445192	ensembl	human	known	70_37	missense	SNP	0.288	T
PRG4	10216	genome.wustl.edu	37	1	186277493	186277493	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr1:186277493C>T	ENST00000445192.2	+	7	2687	c.2642C>T	c.(2641-2643)tCt>tTt	p.S881F	PRG4_ENST00000367484.3_Missense_Mutation_p.S410F|PRG4_ENST00000367485.4_Missense_Mutation_p.S788F|PRG4_ENST00000367486.3_Missense_Mutation_p.S838F|PRG4_ENST00000367483.4_Missense_Mutation_p.S840F	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	881					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCTGAGCTTTCTGCAGAACCC	0.483																																																	0													147.0	151.0	150.0					1																	186277493		2203	4300	6503	SO:0001583	missense	10216			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2642C>T	1.37:g.186277493C>T	ENSP00000399679:p.Ser881Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.S881F	ENST00000445192.2	37	c.2642	CCDS1369.1	1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.505953	0.26949	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.05382	3.45;3.53;3.58;3.46;3.57	2.34	2.34	0.29019	.	1.199790	0.06590	U	0.751846	T	0.05273	0.0140	N	0.14661	0.345	0.09310	N	0.999995	P;P;P;P	0.46327	0.876;0.876;0.804;0.876	B;B;B;B	0.37888	0.26;0.26;0.133;0.26	T	0.49173	-0.8967	10	0.62326	D	0.03	-0.0019	13.4839	0.61353	0.0:1.0:0.0:0.0	.	747;788;881;840	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	F	838;410;747;840;788;881	ENSP00000356456:S838F;ENSP00000356454:S410F;ENSP00000356453:S840F;ENSP00000356455:S788F;ENSP00000399679:S881F	ENSP00000356452:S747F	S	+	2	0	PRG4	184544116	0.000000	0.05858	0.003000	0.11579	0.385000	0.30292	-0.177000	0.09796	1.284000	0.44531	0.413000	0.27773	TCT	PRG4	-	NULL		0.483	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	HGNC	protein_coding	OTTHUMT00000086346.1	C	NM_005807		186277493	+1	no_errors	ENST00000445192	ensembl	human	known	70_37	missense	SNP	0.288	T
PRG4	10216	genome.wustl.edu	37	1	186277798	186277798	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr1:186277798C>T	ENST00000445192.2	+	7	2992	c.2947C>T	c.(2947-2949)Ccc>Tcc	p.P983S	PRG4_ENST00000367484.3_Missense_Mutation_p.P512S|PRG4_ENST00000367485.4_Missense_Mutation_p.P890S|PRG4_ENST00000367486.3_Missense_Mutation_p.P940S|PRG4_ENST00000367483.4_Missense_Mutation_p.P942S	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	983					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TACTCTTGCACCCAAAGTAAC	0.353																																																	0													185.0	202.0	196.0					1																	186277798		2203	4300	6503	SO:0001583	missense	10216			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2947C>T	1.37:g.186277798C>T	ENSP00000399679:p.Pro983Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.P983S	ENST00000445192.2	37	c.2947	CCDS1369.1	1	.	.	.	.	.	.	.	.	.	.	C	6.199	0.404821	0.11754	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.06768	3.26;3.49;3.36;3.26;3.37	3.51	2.57	0.30868	.	0.152863	0.30446	N	0.009604	T	0.08403	0.0209	L	0.43923	1.385	0.09310	N	1	B;B;B;B	0.33318	0.408;0.194;0.123;0.194	B;B;B;B	0.35727	0.209;0.107;0.062;0.131	T	0.19778	-1.0295	10	0.87932	D	0	-2.2833	7.7647	0.28972	0.2737:0.4517:0.2746:0.0	.	849;890;983;942	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	S	940;512;849;942;890;983	ENSP00000356456:P940S;ENSP00000356454:P512S;ENSP00000356453:P942S;ENSP00000356455:P890S;ENSP00000399679:P983S	ENSP00000356452:P849S	P	+	1	0	PRG4	184544421	0.000000	0.05858	0.349000	0.25694	0.314000	0.28054	-0.090000	0.11163	0.579000	0.29504	0.485000	0.47835	CCC	PRG4	-	NULL		0.353	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	HGNC	protein_coding	OTTHUMT00000086346.1	C	NM_005807		186277798	+1	no_errors	ENST00000445192	ensembl	human	known	70_37	missense	SNP	0.104	T
PRG4	10216	genome.wustl.edu	37	1	186277798	186277798	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr1:186277798C>T	ENST00000445192.2	+	7	2992	c.2947C>T	c.(2947-2949)Ccc>Tcc	p.P983S	PRG4_ENST00000367484.3_Missense_Mutation_p.P512S|PRG4_ENST00000367485.4_Missense_Mutation_p.P890S|PRG4_ENST00000367486.3_Missense_Mutation_p.P940S|PRG4_ENST00000367483.4_Missense_Mutation_p.P942S	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	983					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TACTCTTGCACCCAAAGTAAC	0.353																																																	0													185.0	202.0	196.0					1																	186277798		2203	4300	6503	SO:0001583	missense	10216			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2947C>T	1.37:g.186277798C>T	ENSP00000399679:p.Pro983Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.P983S	ENST00000445192.2	37	c.2947	CCDS1369.1	1	.	.	.	.	.	.	.	.	.	.	C	6.199	0.404821	0.11754	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.06768	3.26;3.49;3.36;3.26;3.37	3.51	2.57	0.30868	.	0.152863	0.30446	N	0.009604	T	0.08403	0.0209	L	0.43923	1.385	0.09310	N	1	B;B;B;B	0.33318	0.408;0.194;0.123;0.194	B;B;B;B	0.35727	0.209;0.107;0.062;0.131	T	0.19778	-1.0295	10	0.87932	D	0	-2.2833	7.7647	0.28972	0.2737:0.4517:0.2746:0.0	.	849;890;983;942	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	S	940;512;849;942;890;983	ENSP00000356456:P940S;ENSP00000356454:P512S;ENSP00000356453:P942S;ENSP00000356455:P890S;ENSP00000399679:P983S	ENSP00000356452:P849S	P	+	1	0	PRG4	184544421	0.000000	0.05858	0.349000	0.25694	0.314000	0.28054	-0.090000	0.11163	0.579000	0.29504	0.485000	0.47835	CCC	PRG4	-	NULL		0.353	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	HGNC	protein_coding	OTTHUMT00000086346.1	C	NM_005807		186277798	+1	no_errors	ENST00000445192	ensembl	human	known	70_37	missense	SNP	0.104	T
PRRC2B	84726	genome.wustl.edu	37	9	134353258	134353258	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr9:134353258G>A	ENST00000357304.4	+	16	4589	c.4534G>A	c.(4534-4536)Gag>Aag	p.E1512K	PRRC2B_ENST00000405995.1_Missense_Mutation_p.E818K|PRRC2B_ENST00000458550.1_Missense_Mutation_p.E818K|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1512							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TAAAAAGGCAGAGAAGGAGGC	0.562																																																	0													64.0	69.0	67.0					9																	134353258		2015	4154	6169	SO:0001583	missense	84726			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.4534G>A	9.37:g.134353258G>A	ENSP00000349856:p.Glu1512Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	pfam_BAT2_N	p.E1512K	ENST00000357304.4	37	c.4534	CCDS48044.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.47|14.47	2.545777|2.545777	0.45280|0.45280	.|.	.|.	ENSG00000130723|ENSG00000130723	ENST00000405995;ENST00000357304;ENST00000458550|ENST00000451855	T;T;T|.	0.02631|.	4.22;4.58;4.22|.	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	0.000000|.	0.41823|.	U|.	0.000802|.	T|T	0.69540|0.69540	0.3122|0.3122	L|L	0.49350|0.49350	1.555|1.555	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.998;0.997|.	D;D|.	0.78314|.	0.991;0.98|.	T|T	0.65874|0.65874	-0.6062|-0.6062	10|5	0.33141|.	T|.	0.24|.	-28.4207|-28.4207	18.1868|18.1868	0.89796|0.89796	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	245;1512|.	Q5JSZ8;Q5JSZ5|.	.;PRC2B_HUMAN|.	K|K	818;1512;818|245	ENSP00000384606:E818K;ENSP00000349856:E1512K;ENSP00000398853:E818K|.	ENSP00000349856:E1512K|.	E|R	+|+	1|2	0|0	PRRC2B|PRRC2B	133343079|133343079	1.000000|1.000000	0.71417|0.71417	0.897000|0.897000	0.35233|0.35233	0.266000|0.266000	0.26442|0.26442	6.945000|6.945000	0.75947|0.75947	2.620000|2.620000	0.88729|0.88729	0.561000|0.561000	0.74099|0.74099	GAG|AGA	PRRC2B	-	NULL		0.562	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		G			134353258	+1	no_errors	ENST00000357304	ensembl	human	known	70_37	missense	SNP	0.991	A
PRRC2B	84726	genome.wustl.edu	37	9	134353258	134353258	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr9:134353258G>A	ENST00000357304.4	+	16	4589	c.4534G>A	c.(4534-4536)Gag>Aag	p.E1512K	PRRC2B_ENST00000405995.1_Missense_Mutation_p.E818K|PRRC2B_ENST00000458550.1_Missense_Mutation_p.E818K|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1512							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TAAAAAGGCAGAGAAGGAGGC	0.562																																																	0													64.0	69.0	67.0					9																	134353258		2015	4154	6169	SO:0001583	missense	84726			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.4534G>A	9.37:g.134353258G>A	ENSP00000349856:p.Glu1512Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	pfam_BAT2_N	p.E1512K	ENST00000357304.4	37	c.4534	CCDS48044.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.47|14.47	2.545777|2.545777	0.45280|0.45280	.|.	.|.	ENSG00000130723|ENSG00000130723	ENST00000405995;ENST00000357304;ENST00000458550|ENST00000451855	T;T;T|.	0.02631|.	4.22;4.58;4.22|.	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	0.000000|.	0.41823|.	U|.	0.000802|.	T|T	0.69540|0.69540	0.3122|0.3122	L|L	0.49350|0.49350	1.555|1.555	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.998;0.997|.	D;D|.	0.78314|.	0.991;0.98|.	T|T	0.65874|0.65874	-0.6062|-0.6062	10|5	0.33141|.	T|.	0.24|.	-28.4207|-28.4207	18.1868|18.1868	0.89796|0.89796	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	245;1512|.	Q5JSZ8;Q5JSZ5|.	.;PRC2B_HUMAN|.	K|K	818;1512;818|245	ENSP00000384606:E818K;ENSP00000349856:E1512K;ENSP00000398853:E818K|.	ENSP00000349856:E1512K|.	E|R	+|+	1|2	0|0	PRRC2B|PRRC2B	133343079|133343079	1.000000|1.000000	0.71417|0.71417	0.897000|0.897000	0.35233|0.35233	0.266000|0.266000	0.26442|0.26442	6.945000|6.945000	0.75947|0.75947	2.620000|2.620000	0.88729|0.88729	0.561000|0.561000	0.74099|0.74099	GAG|AGA	PRRC2B	-	NULL		0.562	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		G			134353258	+1	no_errors	ENST00000357304	ensembl	human	known	70_37	missense	SNP	0.991	A
PTOV1	53635	genome.wustl.edu	37	19	50354091	50354091	+	5'Flank	SNP	G	G	A	rs551286794	byFrequency	TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr19:50354091G>A	ENST00000601675.1	+	0	0				PTOV1-AS1_ENST00000596521.1_RNA|PTOV1-AS1_ENST00000600742.1_RNA|PTOV1_ENST00000391842.1_5'Flank|PTOV1_ENST00000221557.9_5'Flank|PTOV1_ENST00000599732.1_5'Flank|PTOV1_ENST00000600603.1_De_novo_Start_OutOfFrame|PTOV1_ENST00000601638.1_De_novo_Start_OutOfFrame|AC018766.6_ENST00000601211.1_RNA			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		CCTCTTCCCTGATGTATTTTG	0.642													G|||	2	0.000399361	0.0	0.0	5008	,	,		13555	0.0		0.001	False		,,,				2504	0.001																0																																										SO:0001631	upstream_gene_variant	100506033			AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162		19.37:g.50354091G>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	RNA	SNP	-	NULL	ENST00000601675.1	37	NULL	CCDS12782.1	19																																																																																			PTOV1-AS1	-	-		0.642	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	PTOV1-AS1	HGNC	protein_coding	OTTHUMT00000465347.1	G	NM_017432		50354091	-1	no_errors	ENST00000600742	ensembl	human	known	70_37	rna	SNP	0.000	A
PXN	5829	genome.wustl.edu	37	12	120650348	120650348	+	Silent	SNP	G	G	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr12:120650348G>A	ENST00000228307.7	-	12	1686	c.1545C>T	c.(1543-1545)ttC>ttT	p.F515F	PXN_ENST00000397506.3_Silent_p.F327F|PXN_ENST00000536957.1_Silent_p.F513F|PXN-AS1_ENST00000538804.1_RNA|PXN-AS1_ENST00000539446.1_RNA|PXN_ENST00000424649.2_Silent_p.F481F|PXN_ENST00000267257.7_Silent_p.F529F|PXN_ENST00000458477.2_Silent_p.F348F|PXN-AS1_ENST00000542314.1_RNA|PXN_ENST00000538144.1_5'UTR|PXN-AS1_ENST00000535200.1_RNA|PXN-AS1_ENST00000542265.1_RNA	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	515	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGTCGTGCTCGAAGAAGCTGC	0.657																																																	0													46.0	52.0	50.0					12																	120650348		2074	4200	6274	SO:0001819	synonymous_variant	5829			U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.1545C>T	12.37:g.120650348G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM,prints_Paxillin	p.F529	ENST00000228307.7	37	c.1587	CCDS44997.1	12																																																																																			PXN	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.657	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PXN	HGNC	protein_coding	OTTHUMT00000402679.4	G	NM_002859		120650348	-1	no_errors	ENST00000267257	ensembl	human	known	70_37	silent	SNP	0.510	A
PXN	5829	genome.wustl.edu	37	12	120650348	120650348	+	Silent	SNP	G	G	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr12:120650348G>A	ENST00000228307.7	-	12	1686	c.1545C>T	c.(1543-1545)ttC>ttT	p.F515F	PXN_ENST00000397506.3_Silent_p.F327F|PXN_ENST00000536957.1_Silent_p.F513F|PXN-AS1_ENST00000538804.1_RNA|PXN-AS1_ENST00000539446.1_RNA|PXN_ENST00000424649.2_Silent_p.F481F|PXN_ENST00000267257.7_Silent_p.F529F|PXN_ENST00000458477.2_Silent_p.F348F|PXN-AS1_ENST00000542314.1_RNA|PXN_ENST00000538144.1_5'UTR|PXN-AS1_ENST00000535200.1_RNA|PXN-AS1_ENST00000542265.1_RNA	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	515	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGTCGTGCTCGAAGAAGCTGC	0.657																																																	0													46.0	52.0	50.0					12																	120650348		2074	4200	6274	SO:0001819	synonymous_variant	5829			U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.1545C>T	12.37:g.120650348G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM,prints_Paxillin	p.F529	ENST00000228307.7	37	c.1587	CCDS44997.1	12																																																																																			PXN	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.657	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PXN	HGNC	protein_coding	OTTHUMT00000402679.4	G	NM_002859		120650348	-1	no_errors	ENST00000267257	ensembl	human	known	70_37	silent	SNP	0.510	A
PYURF	100996939	genome.wustl.edu	37	4	89443102	89443102	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr4:89443102C>T	ENST00000273968.4	-	2	394	c.282G>A	c.(280-282)atG>atA	p.M94I	HERC3_ENST00000601319.1_3'UTR|PIGY_ENST00000527353.1_5'Flank	NM_001042616.2|NM_032906.4	NP_001036081.1|NP_116295.1	Q96I23	PREY_HUMAN	PIGY upstream reading frame	94	TRM112.				GPI anchor biosynthetic process (GO:0006506)|positive regulation of metabolic process (GO:0009893)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|mitochondrion (GO:0005739)											CCTGTGGTATCATATTAGGGA	0.368																																																	0													182.0	143.0	154.0					4																	89443102		692	1591	2283	SO:0001583	missense	100996939					4q22.1	2012-08-14			ENSG00000145337	ENSG00000145337			44317	protein-coding gene	gene with protein product						16162815	Standard	NM_032906		Approved	PreY	uc003hru.2	Q96I23	OTTHUMG00000130949	ENST00000273968.4:c.282G>A	4.37:g.89443102C>T	ENSP00000273968:p.Met94Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R571	Missense_Mutation	SNP	pfam_UPF0434/Trm112	p.M94I	ENST00000273968.4	37	c.282	CCDS3631.1	4	.	.	.	.	.	.	.	.	.	.	C	31	5.080718	0.94050	.	.	ENSG00000145337	ENST00000273968	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.86422	0.5929	M	0.93550	3.43	0.38514	D	0.948547	D	0.76494	0.999	D	0.80764	0.994	D	0.90015	0.4124	8	0.72032	D	0.01	-8.7335	17.7721	0.88495	0.0:1.0:0.0:0.0	.	94	Q96I23	PREY_HUMAN	I	94	.	ENSP00000273968:M94I	M	-	3	0	PIGY	89662125	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.870000	0.75526	2.519000	0.84933	0.655000	0.94253	ATG	PYURF	-	NULL		0.368	PYURF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYURF	HGNC	protein_coding	OTTHUMT00000253550.1	C	NM_032906.4		89443102	-1	no_errors	ENST00000273968	ensembl	human	known	70_37	missense	SNP	1.000	T
QRICH2	84074	genome.wustl.edu	37	17	74288410	74288410	+	Missense_Mutation	SNP	C	C	T	rs80109605		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr17:74288410C>T	ENST00000262765.5	-	4	2079	c.1900G>A	c.(1900-1902)Ggt>Agt	p.G634S		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	634	Gln-rich.							p.I630_G639delIVQRGLVQPG(3)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						tgcaccaaaccacgctgaact	0.527																																																	3	Deletion - In frame(3)	stomach(3)											68.0	85.0	79.0					17																	74288410		2201	4298	6499	SO:0001583	missense	84074			AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.1900G>A	17.37:g.74288410C>T	ENSP00000262765:p.Gly634Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRE1|Q96LM3	Missense_Mutation	SNP	NULL	p.G634S	ENST00000262765.5	37	c.1900	CCDS32741.1	17	.	.	.	.	.	.	.	.	.	.	C	10.34	1.323061	0.24080	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.23950	1.88	5.11	1.94	0.25998	.	.	.	.	.	T	0.38878	0.1057	M	0.84082	2.675	0.80722	P	0.0	P;P	0.51537	0.946;0.897	P;P	0.50314	0.637;0.485	T	0.56007	-0.8050	8	0.44086	T	0.13	-8.3819	9.1736	0.37098	0.0:0.7577:0.0:0.2423	.	634;634	B5MD94;Q9H0J4	.;QRIC2_HUMAN	S	634	ENSP00000262765:G634S	ENSP00000262765:G634S	G	-	1	0	QRICH2	71800005	0.000000	0.05858	0.019000	0.16419	0.008000	0.06430	0.238000	0.18004	1.089000	0.41292	0.555000	0.69702	GGT	QRICH2	-	NULL		0.527	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	QRICH2	HGNC	protein_coding	OTTHUMT00000395140.1	C	NM_032134		74288410	-1	no_errors	ENST00000262765	ensembl	human	known	70_37	missense	SNP	0.007	T
RANBP2	5903	genome.wustl.edu	37	2	109347309	109347309	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr2:109347309G>A	ENST00000283195.6	+	3	346	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	74					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGAATTGGAAGAAAACACAGA	0.348																																																	0													99.0	118.0	111.0					2																	109347309		1470	2559	4029	SO:0001583	missense	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.220G>A	2.37:g.109347309G>A	ENSP00000283195:p.Glu74Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom	p.E74K	ENST00000283195.6	37	c.220	CCDS2079.1	2	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315086	0.81358	.	.	ENSG00000153201	ENST00000409491;ENST00000283195;ENST00000456637	T	0.61274	0.12	4.24	4.24	0.50183	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.	.	.	.	T	0.49864	0.1582	L	0.29908	0.895	0.35780	D	0.821587	P	0.43231	0.801	B	0.43225	0.412	T	0.57556	-0.7791	9	0.26408	T	0.33	-28.2527	17.1647	0.86812	0.0:0.0:1.0:0.0	.	74	P49792	RBP2_HUMAN	K	74;74;48	ENSP00000283195:E74K	ENSP00000283195:E74K	E	+	1	0	RANBP2	108713741	1.000000	0.71417	0.979000	0.43373	0.850000	0.48378	8.675000	0.91195	2.351000	0.79841	0.585000	0.79938	GAA	RANBP2	-	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.348	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	HGNC	protein_coding	OTTHUMT00000253594.1	G	NM_006267		109347309	+1	no_errors	ENST00000283195	ensembl	human	known	70_37	missense	SNP	1.000	A
RANBP2	5903	genome.wustl.edu	37	2	109347309	109347309	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr2:109347309G>A	ENST00000283195.6	+	3	346	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	74					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGAATTGGAAGAAAACACAGA	0.348																																																	0													99.0	118.0	111.0					2																	109347309		1470	2559	4029	SO:0001583	missense	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.220G>A	2.37:g.109347309G>A	ENSP00000283195:p.Glu74Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom	p.E74K	ENST00000283195.6	37	c.220	CCDS2079.1	2	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315086	0.81358	.	.	ENSG00000153201	ENST00000409491;ENST00000283195;ENST00000456637	T	0.61274	0.12	4.24	4.24	0.50183	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.	.	.	.	T	0.49864	0.1582	L	0.29908	0.895	0.35780	D	0.821587	P	0.43231	0.801	B	0.43225	0.412	T	0.57556	-0.7791	9	0.26408	T	0.33	-28.2527	17.1647	0.86812	0.0:0.0:1.0:0.0	.	74	P49792	RBP2_HUMAN	K	74;74;48	ENSP00000283195:E74K	ENSP00000283195:E74K	E	+	1	0	RANBP2	108713741	1.000000	0.71417	0.979000	0.43373	0.850000	0.48378	8.675000	0.91195	2.351000	0.79841	0.585000	0.79938	GAA	RANBP2	-	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.348	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	HGNC	protein_coding	OTTHUMT00000253594.1	G	NM_006267		109347309	+1	no_errors	ENST00000283195	ensembl	human	known	70_37	missense	SNP	1.000	A
RB1CC1	9821	genome.wustl.edu	37	8	53626647	53626647	+	5'UTR	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr8:53626647C>T	ENST00000025008.5	-	0	345				RB1CC1_ENST00000435644.2_5'UTR|RB1CC1_ENST00000521611.1_5'UTR	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1						autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GGCAACGCCTCCTCCTTCGCC	0.746																																					GBM(180;1701 2102 13475 42023 52570)												0																																										SO:0001623	5_prime_UTR_variant	9821			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.-179G>A	8.37:g.53626647C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	NULL	p.G16E	ENST00000025008.5	37	c.47	CCDS34892.1	8	.	.	.	.	.	.	.	.	.	.	C	14.73	2.621917	0.46840	.	.	ENSG00000023287	ENST00000517963	.	.	.	4.13	4.13	0.48395	.	.	.	.	.	T	0.65749	0.2721	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66960	-0.5791	5	0.49607	T	0.09	.	12.1009	0.53783	0.0:1.0:0.0:0.0	.	.	.	.	E	16	.	ENSP00000429918:G16E	G	-	2	0	RB1CC1	53789200	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.565000	0.36386	2.284000	0.76573	0.561000	0.74099	GGA	RB1CC1	-	NULL		0.746	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RB1CC1	HGNC	protein_coding	OTTHUMT00000378011.1	C	NM_014781		53626647	-1	no_errors	ENST00000518211	ensembl	human	known	70_37	missense	SNP	1.000	T
RBMXL2	27288	genome.wustl.edu	37	11	7110706	7110706	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:7110706C>T	ENST00000306904.5	+	1	542	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	119	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		cggcggcccgcggcgTTCCCC	0.776																																																	0													1.0	1.0	1.0					11																	7110706		394	1011	1405	SO:0001583	missense	27288			AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"""RNA binding motif (RRM) containing"""	17886	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G T"""	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.355C>T	11.37:g.7110706C>T	ENSP00000304139:p.Arg119Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PEZ2|Q9NQU0	Missense_Mutation	SNP	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.R119W	ENST00000306904.5	37	c.355	CCDS7777.1	11	.	.	.	.	.	.	.	.	.	.	C	9.038	0.989001	0.18966	.	.	ENSG00000170748	ENST00000306904	T	0.79352	-1.26	2.17	-2.94	0.05581	.	0.000000	0.85682	U	0.000000	T	0.69913	0.3164	M	0.79693	2.465	0.33598	D	0.601947	B	0.12013	0.005	B	0.06405	0.002	T	0.56366	-0.7991	10	0.56958	D	0.05	.	3.4147	0.07372	0.5332:0.213:0.0:0.2538	.	119	O75526	HNRGT_HUMAN	W	119	ENSP00000304139:R119W	ENSP00000304139:R119W	R	+	1	2	RBMXL2	7067282	0.987000	0.35691	0.006000	0.13384	0.006000	0.05464	0.476000	0.22180	-0.832000	0.04251	-0.856000	0.03024	CGG	RBMXL2	-	NULL		0.776	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL2	HGNC	protein_coding	OTTHUMT00000384552.1	C	NM_014469		7110706	+1	no_errors	ENST00000306904	ensembl	human	known	70_37	missense	SNP	0.415	T
RCAN2	10231	genome.wustl.edu	37	6	46424540	46424540	+	Silent	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr6:46424540C>T	ENST00000371374.1	-	2	365	c.174G>A	c.(172-174)tcG>tcA	p.S58S	RCAN2_ENST00000306764.7_Silent_p.S58S|RCAN2_ENST00000405162.1_Silent_p.S58S	NM_001251974.1	NP_001238903.1	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	12					calcineurin-NFAT signaling cascade (GO:0033173)|locomotion involved in locomotory behavior (GO:0031987)|response to oxidative stress (GO:0006979)|short-term memory (GO:0007614)		nucleotide binding (GO:0000166)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						ACGCAAACAACGAGTTGGGGA	0.453																																																	0																																										SO:0001819	synonymous_variant	10231			D83407	CCDS43469.1, CCDS59023.1	6p12.3	2008-10-31	2007-06-26	2007-06-26	ENSG00000172348	ENSG00000172348			3041	protein-coding gene	gene with protein product		604876	"""Down syndrome critical region gene 1-like 1"""	DSCR1L1		8662924	Standard	NM_001251973		Approved	ZAKI-4	uc003oyc.2	Q14206	OTTHUMG00000014782	ENST00000371374.1:c.174G>A	6.37:g.46424540C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6ND07|B3KR46|Q5VWF7|Q5VWF8|Q8N116	Silent	SNP	pfam_Calcipressin	p.S58	ENST00000371374.1	37	c.174	CCDS59023.1	6																																																																																			RCAN2	-	NULL		0.453	RCAN2-002	KNOWN	basic|CCDS	protein_coding	RCAN2	HGNC	protein_coding	OTTHUMT00000040783.1	C			46424540	-1	no_errors	ENST00000306764	ensembl	human	known	70_37	silent	SNP	0.035	T
RELN	5649	genome.wustl.edu	37	7	103268373	103268373	+	Intron	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr7:103268373C>T	ENST00000428762.1	-	20	2862				RELN_ENST00000343529.5_Intron|RELN_ENST00000424685.2_Intron	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin						associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATCATGCATTCAATGCAAGTG	0.348																																					NSCLC(146;835 1944 15585 22231 52158)												0																																										SO:0001627	intron_variant	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.2702+2013G>A	7.37:g.103268373C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	RNA	SNP	-	NULL	ENST00000428762.1	37	NULL	CCDS47680.1	7																																																																																			RELN	-	-		0.348	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	C	NM_005045		103268373	-1	no_errors	ENST00000473457	ensembl	human	putative	70_37	rna	SNP	1.000	T
RET	5979	genome.wustl.edu	37	10	43609028	43609028	+	Missense_Mutation	SNP	A	A	C			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr10:43609028A>C	ENST00000355710.3	+	10	2016	c.1784A>C	c.(1783-1785)gAg>gCg	p.E595A	RET_ENST00000340058.5_Missense_Mutation_p.E595A	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	595			E -> Q (in HSCR1). {ECO:0000269|PubMed:22174939}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.G592_G607del(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GGGGGACACGAGCCTGGGGAG	0.642		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)		yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"""E, O"""	1	Deletion - In frame(1)	thyroid(1)											24.0	26.0	26.0					10																	43609028		2202	4300	6502	SO:0001583	missense	5979	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1784A>C	10.37:g.43609028A>C	ENSP00000347942:p.Glu595Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_Ret_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Cadherin,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E595A	ENST00000355710.3	37	c.1784	CCDS7200.1	10	.	.	.	.	.	.	.	.	.	.	A	13.32	2.202818	0.38905	.	.	ENSG00000165731	ENST00000355710;ENST00000498820;ENST00000340058	T;D;T	0.98437	-1.23;-4.93;-1.35	4.92	4.92	0.64577	.	0.046701	0.85682	D	0.000000	D	0.97545	0.9196	M	0.63428	1.95	0.53688	D	0.999973	P;P;D	0.60160	0.848;0.939;0.987	B;P;P	0.54100	0.437;0.556;0.742	D	0.96269	0.9197	10	0.33940	T	0.23	.	8.889	0.35420	0.9108:0.0:0.0892:0.0	.	341;595;595	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	A	595;112;595	ENSP00000347942:E595A;ENSP00000419080:E112A;ENSP00000344798:E595A	ENSP00000344798:E595A	E	+	2	0	RET	42929034	1.000000	0.71417	0.962000	0.40283	0.010000	0.07245	4.474000	0.60203	1.853000	0.53794	0.460000	0.39030	GAG	RET	-	pirsf_Tyr_kinase_Ret_rcpt		0.642	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RET	HGNC	protein_coding	OTTHUMT00000047694.2	A	NM_020975		43609028	+1	no_errors	ENST00000355710	ensembl	human	known	70_37	missense	SNP	0.998	C
RFFL	117584	genome.wustl.edu	37	17	33348478	33348478	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr17:33348478C>A	ENST00000315249.7	-	3	725	c.503G>T	c.(502-504)aGc>aTc	p.S168I	RFFL_ENST00000584655.1_Missense_Mutation_p.S168I|RFFL_ENST00000413582.2_Missense_Mutation_p.S168I|RFFL_ENST00000447669.2_Missense_Mutation_p.S168I|RFFL_ENST00000394597.2_Missense_Mutation_p.S168I|RFFL_ENST00000415395.2_Missense_Mutation_p.S168I|RFFL_ENST00000378516.2_Missense_Mutation_p.S168I|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000268850.7_Missense_Mutation_p.S168I					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase											kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TGGAACCATGCTGGAGTGAGG	0.602																																																	0													81.0	64.0	70.0					17																	33348478		2203	4300	6503	SO:0001583	missense	117584			AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"""RING-type (C3HC4) zinc fingers"""	24821	protein-coding gene	gene with protein product		609735	"""ring finger and FYVE-like domain containing"""			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.503G>T	17.37:g.33348478C>A	ENSP00000326170:p.Ser168Ile	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_Znf_RING,pfscan_Znf_RING	p.S168I	ENST00000315249.7	37	c.503	CCDS11286.1	17	.	.	.	.	.	.	.	.	.	.	C	6.636	0.485862	0.12641	.	.	ENSG00000092871	ENST00000315249;ENST00000394597;ENST00000378516;ENST00000268850;ENST00000413582;ENST00000415395	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.83;0.82;0.82	5.65	4.68	0.58851	.	0.302431	0.41097	D	0.000945	T	0.47673	0.1458	L	0.34521	1.04	0.50313	D	0.999865	P;B;B;P	0.45212	0.853;0.078;0.121;0.853	P;B;B;P	0.51777	0.679;0.049;0.063;0.558	T	0.41142	-0.9525	10	0.38643	T	0.18	-17.3275	12.1322	0.53950	0.0:0.9222:0.0:0.0778	.	168;168;168;168	C9JN73;Q8WZ73-3;Q8WZ73;Q8WZ73-2	.;.;RFFL_HUMAN;.	I	168	ENSP00000326170:S168I;ENSP00000378096:S168I;ENSP00000367777:S168I;ENSP00000268850:S168I;ENSP00000408513:S168I;ENSP00000412322:S168I	ENSP00000268850:S168I	S	-	2	0	RFFL	30372591	1.000000	0.71417	0.988000	0.46212	0.100000	0.18952	1.773000	0.38563	1.632000	0.50472	-0.140000	0.14226	AGC	RFFL	-	NULL		0.602	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFFL	HGNC	protein_coding	OTTHUMT00000256460.2	C	NM_057178		33348478	-1	no_errors	ENST00000315249	ensembl	human	known	70_37	missense	SNP	1.000	A
RFFL	117584	genome.wustl.edu	37	17	33348478	33348478	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr17:33348478C>A	ENST00000315249.7	-	3	725	c.503G>T	c.(502-504)aGc>aTc	p.S168I	RFFL_ENST00000584655.1_Missense_Mutation_p.S168I|RFFL_ENST00000413582.2_Missense_Mutation_p.S168I|RFFL_ENST00000447669.2_Missense_Mutation_p.S168I|RFFL_ENST00000394597.2_Missense_Mutation_p.S168I|RFFL_ENST00000415395.2_Missense_Mutation_p.S168I|RFFL_ENST00000378516.2_Missense_Mutation_p.S168I|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000268850.7_Missense_Mutation_p.S168I					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase											kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TGGAACCATGCTGGAGTGAGG	0.602																																																	0													81.0	64.0	70.0					17																	33348478		2203	4300	6503	SO:0001583	missense	117584			AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"""RING-type (C3HC4) zinc fingers"""	24821	protein-coding gene	gene with protein product		609735	"""ring finger and FYVE-like domain containing"""			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.503G>T	17.37:g.33348478C>A	ENSP00000326170:p.Ser168Ile	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_Znf_RING,pfscan_Znf_RING	p.S168I	ENST00000315249.7	37	c.503	CCDS11286.1	17	.	.	.	.	.	.	.	.	.	.	C	6.636	0.485862	0.12641	.	.	ENSG00000092871	ENST00000315249;ENST00000394597;ENST00000378516;ENST00000268850;ENST00000413582;ENST00000415395	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.83;0.82;0.82	5.65	4.68	0.58851	.	0.302431	0.41097	D	0.000945	T	0.47673	0.1458	L	0.34521	1.04	0.50313	D	0.999865	P;B;B;P	0.45212	0.853;0.078;0.121;0.853	P;B;B;P	0.51777	0.679;0.049;0.063;0.558	T	0.41142	-0.9525	10	0.38643	T	0.18	-17.3275	12.1322	0.53950	0.0:0.9222:0.0:0.0778	.	168;168;168;168	C9JN73;Q8WZ73-3;Q8WZ73;Q8WZ73-2	.;.;RFFL_HUMAN;.	I	168	ENSP00000326170:S168I;ENSP00000378096:S168I;ENSP00000367777:S168I;ENSP00000268850:S168I;ENSP00000408513:S168I;ENSP00000412322:S168I	ENSP00000268850:S168I	S	-	2	0	RFFL	30372591	1.000000	0.71417	0.988000	0.46212	0.100000	0.18952	1.773000	0.38563	1.632000	0.50472	-0.140000	0.14226	AGC	RFFL	-	NULL		0.602	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFFL	HGNC	protein_coding	OTTHUMT00000256460.2	C	NM_057178		33348478	-1	no_errors	ENST00000315249	ensembl	human	known	70_37	missense	SNP	1.000	A
RNF141	50862	genome.wustl.edu	37	11	10546848	10546848	+	Missense_Mutation	SNP	C	C	A	rs575306687		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:10546848C>A	ENST00000265981.2	-	4	467	c.325G>T	c.(325-327)Gat>Tat	p.D109Y	RNF141_ENST00000528665.1_Missense_Mutation_p.D109Y	NM_016422.3	NP_057506.2	Q8WVD5	RN141_HUMAN	ring finger protein 141	109					protein autoubiquitination (GO:0051865)|regulation of transcription, DNA-templated (GO:0006355)		DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9				all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)		CTTGTGATATCTTTATAAAGT	0.378																																					Ovarian(8;377 410 25844 26058 41491)												0													104.0	100.0	101.0					11																	10546848		2201	4294	6495	SO:0001583	missense	50862			AF214680	CCDS7803.1	11p15.3	2013-01-09			ENSG00000110315	ENSG00000110315		"""RING-type (C3HC4) zinc fingers"""	21159	protein-coding gene	gene with protein product						11672448	Standard	NM_016422		Approved	ZFP26, ZNF230	uc001mis.1	Q8WVD5		ENST00000265981.2:c.325G>T	11.37:g.10546848C>A	ENSP00000265981:p.Asp109Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K149|Q9NZB4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.D109Y	ENST00000265981.2	37	c.325	CCDS7803.1	11	.	.	.	.	.	.	.	.	.	.	C	28.8	4.950355	0.92660	.	.	ENSG00000110315	ENST00000265981;ENST00000528665;ENST00000533412	T	0.72394	-0.65	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.82921	0.5142	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.83473	0.0060	10	0.66056	D	0.02	-17.6063	19.6778	0.95943	0.0:1.0:0.0:0.0	.	109	Q8WVD5	RN141_HUMAN	Y	109	ENSP00000265981:D109Y	ENSP00000265981:D109Y	D	-	1	0	RNF141	10503424	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.426000	0.80270	2.645000	0.89757	0.650000	0.86243	GAT	RNF141	-	NULL		0.378	RNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF141	HGNC	protein_coding	OTTHUMT00000385888.1	C	NM_016422		10546848	-1	no_errors	ENST00000265981	ensembl	human	known	70_37	missense	SNP	1.000	A
RNF149	284996	genome.wustl.edu	37	2	101911471	101911471	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr2:101911471C>A	ENST00000295317.3	-	2	740	c.633G>T	c.(631-633)atG>atT	p.M211I		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	211					cellular response to drug (GO:0035690)|negative regulation of MAPK cascade (GO:0043409)|regulation of protein stability (GO:0031647)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						AGATAATCATCATGGTGATGA	0.443																																					Colon(25;331 612 6521 7355 31028)												0													115.0	108.0	110.0					2																	101911471		2203	4300	6503	SO:0001583	missense	284996			AK074985	CCDS2051.1	2q12.1	2013-01-09			ENSG00000163162	ENSG00000163162		"""RING-type (C3HC4) zinc fingers"""	23137	protein-coding gene	gene with protein product							Standard	NM_173647		Approved	FLJ90504	uc002taz.2	Q8NC42	OTTHUMG00000130685	ENST00000295317.3:c.633G>T	2.37:g.101911471C>A	ENSP00000295317:p.Met211Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.M211I	ENST00000295317.3	37	c.633	CCDS2051.1	2	.	.	.	.	.	.	.	.	.	.	C	11.74	1.728472	0.30593	.	.	ENSG00000163162	ENST00000295317	T	0.06768	3.26	5.35	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.07548	0.0190	L	0.34521	1.04	0.52501	D	0.999955	P	0.39831	0.69	B	0.36666	0.23	T	0.38134	-0.9675	10	0.28530	T	0.3	.	13.8073	0.63240	0.0:0.9268:0.0:0.0732	.	211	Q8NC42	RN149_HUMAN	I	211	ENSP00000295317:M211I	ENSP00000295317:M211I	M	-	3	0	RNF149	101277903	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.123000	0.41996	1.259000	0.44117	0.591000	0.81541	ATG	RNF149	-	NULL		0.443	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF149	HGNC	protein_coding	OTTHUMT00000253180.2	C	NM_173647		101911471	-1	no_errors	ENST00000295317	ensembl	human	known	70_37	missense	SNP	1.000	A
RNU1-2	26870	genome.wustl.edu	37	1	17222572	17222572	+	RNA	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr1:17222572C>T	ENST00000384278.1	+	0	98					NR_004400.1|NR_004402.2|NR_004408.1|NR_004421.1|NR_004424.2|NR_004427.1|NR_004430.2				RNA, U1 small nuclear 2																		cctgcgatttccccaaatgtg	0.517																																																	0																																												26870			M28012		1p36.13	2010-06-16	2009-11-05	2009-11-05	ENSG00000207005	ENSG00000207005		"""ncRNAs / Small nuclear RNAs"""	10123	non-coding RNA	RNA, small nuclear			"""RNA, U1C1 small nuclear"", ""RNA, U1C2 small nuclear"""	RNU1C1, RNU1C2		3837185	Standard	NR_004427		Approved	U1C1, U1C21					1.37:g.17222572C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000384278.1	37	NULL		1																																																																																			RNU1-2	-	-		0.517	RNU1-2-201	KNOWN	basic	snRNA	RNU1-2	HGNC	snRNA		C	NR_004427		17222572	+1	no_errors	ENST00000384278	ensembl	human	known	70_37	rna	SNP	0.989	T
RPTOR	57521	genome.wustl.edu	37	17	78939906	78939906	+	3'UTR	SNP	G	G	A	rs539580056		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr17:78939906G>A	ENST00000306801.3	+	0	6146				CTD-2561B21.5_ENST00000573602.1_RNA|RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_3'UTR|CTD-2561B21.5_ENST00000576234.1_RNA	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1						cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GGTGGCTCCAGAGGGGTCAAG	0.602																																																	0																																										SO:0001624	3_prime_UTR_variant	57521				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.*1776G>A	17.37:g.78939906G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	RNA	SNP	-	NULL	ENST00000306801.3	37	NULL	CCDS11773.1	17																																																																																			RPTOR	-	-		0.602	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPTOR	HGNC	protein_coding	OTTHUMT00000438125.1	G	NM_020761		78939906	+1	no_errors	ENST00000575542	ensembl	human	known	70_37	rna	SNP	0.006	A
APTR	100505854	genome.wustl.edu	37	7	77313371	77313371	+	lincRNA	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr7:77313371C>T	ENST00000440088.1	-	0	370																											agaataaaatcaaagtctttg	0.403																																																	0																																												100505854																															7.37:g.77313371C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000440088.1	37	NULL		7																																																																																			RSBN1L-AS1	-	-		0.403	RSBN1L-AS1-001	KNOWN	basic	lincRNA	RSBN1L-AS1	HGNC	lincRNA	OTTHUMT00000340787.1	C			77313371	-1	no_errors	ENST00000416650	ensembl	human	putative	70_37	rna	SNP	0.074	T
SDHB	6390	genome.wustl.edu	37	1	17349636	17349636	+	Intron	SNP	T	T	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr1:17349636T>A	ENST00000375499.3	-	7	793					NM_003000.2	NP_002991.2	P21912	SDHB_HUMAN	succinate dehydrogenase complex, subunit B, iron sulfur (Ip)						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)|ubiquinone binding (GO:0048039)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	10		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	Succinic acid(DB00139)	TTAACAGACCTGTCTACAGAT	0.443			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome																														yes	Rec		Familial paraganglioma	1	1p36.1-p35	6390	"""succinate dehydrogenase complex, subunit B, iron sulfur (Ip)"""		O	0																																										SO:0001627	intron_variant	6390	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	U17248	CCDS176.1	1p36.1-p35	2014-09-17			ENSG00000117118	ENSG00000117118	1.3.99.1	"""Mitochondrial respiratory chain complex / Complex II"""	10681	protein-coding gene	gene with protein product		185470		SDH1, SDH			Standard	NM_003000		Approved		uc001bae.3	P21912	OTTHUMG00000002289	ENST00000375499.3:c.643-411A>T	1.37:g.17349636T>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R545|Q0QEY7|Q9NQ12	RNA	SNP	-	NULL	ENST00000375499.3	37	NULL	CCDS176.1	1																																																																																			SDHB	-	-		0.443	SDHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDHB	HGNC	protein_coding	OTTHUMT00000006603.1	T	NM_003000		17349636	-1	no_errors	ENST00000475049	ensembl	human	known	70_37	rna	SNP	0.004	A
SEMA4B	10509	genome.wustl.edu	37	15	90766915	90766915	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr15:90766915G>T	ENST00000411539.2	+	8	1246	c.986G>T	c.(985-987)aGc>aTc	p.S329I	SEMA4B_ENST00000332496.6_Missense_Mutation_p.S329I|SEMA4B_ENST00000379122.3_Missense_Mutation_p.S324I	NM_198925.2	NP_945119.1	Q9NPR2	SEM4B_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B	324	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)	receptor activity (GO:0004872)			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TTCACGCTGAGCCCCAGCCCC	0.622																																																	0													35.0	39.0	37.0					15																	90766915		2108	4221	6329	SO:0001583	missense	10509			AB051532	CCDS45347.1	15q25	2008-07-18						"""Semaphorins"""	10730	protein-coding gene	gene with protein product				SEMAC		7748561	Standard	NM_020210		Approved	SemC, KIAA1745, MGC131831	uc002boz.3	Q9NPR2		ENST00000411539.2:c.986G>T	15.37:g.90766915G>T	ENSP00000394720:p.Ser329Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UXE3|Q8WVP9|Q96FK5|Q9C0B8|Q9H691|Q9NPM8|Q9NPN0	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.S329I	ENST00000411539.2	37	c.986	CCDS45347.1	15	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864912	0.51482	.	.	ENSG00000185033	ENST00000332496;ENST00000379122;ENST00000411539	T;T;T	0.11169	2.8;2.8;2.8	5.12	0.876	0.19138	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.493946	0.23422	N	0.048357	T	0.09862	0.0242	L	0.38692	1.165	0.23594	N	0.99733	P;P	0.34909	0.475;0.475	B;B	0.36335	0.222;0.222	T	0.15009	-1.0452	10	0.49607	T	0.09	.	12.5787	0.56378	0.073:0.6:0.327:0.0	.	329;324	Q2NL81;Q9NPR2	.;SEM4B_HUMAN	I	329;324;329	ENSP00000332204:S329I;ENSP00000368417:S324I;ENSP00000394720:S329I	ENSP00000332204:S329I	S	+	2	0	SEMA4B	88567919	0.868000	0.29978	0.995000	0.50966	0.934000	0.57294	0.570000	0.23653	-0.014000	0.14175	0.591000	0.81541	AGC	SEMA4B	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.622	SEMA4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4B	HGNC	protein_coding	OTTHUMT00000416810.1	G	NM_198925		90766915	+1	no_errors	ENST00000332496	ensembl	human	known	70_37	missense	SNP	0.647	T
SEMA6A	57556	genome.wustl.edu	37	5	115808598	115808598	+	Intron	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr5:115808598G>T	ENST00000343348.6	-	17	2517				SEMA6A_ENST00000257414.8_Missense_Mutation_p.S588Y|SEMA6A_ENST00000510263.1_Intron|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000507558.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000282394.6_Intron|CTB-118N6.3_ENST00000508424.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A						apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGTGTTGTAAGACATTTCATT	0.274																																																	0																																										SO:0001627	intron_variant	57556			AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.1729+170C>A	5.37:g.115808598G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9P2H9	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.S588Y	ENST00000343348.6	37	c.1763	CCDS47256.1	5	.	.	.	.	.	.	.	.	.	.	G	12.92	2.083597	0.36758	.	.	ENSG00000092421	ENST00000257414	T	0.19105	2.17	5.96	5.04	0.67666	.	0.913511	0.09602	N	0.780081	T	0.20820	0.0501	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.02596	-1.1136	9	0.51188	T	0.08	.	13.5311	0.61623	0.0:0.0:0.7293:0.2707	.	588	Q9H2E6-2	.	Y	588	ENSP00000257414:S588Y	ENSP00000257414:S588Y	S	-	2	0	SEMA6A	115836497	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.143000	0.58051	2.832000	0.97577	0.655000	0.94253	TCT	SEMA6A	-	NULL		0.274	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA6A	HGNC	protein_coding	OTTHUMT00000371270.1	G	NM_020796		115808598	-1	no_errors	ENST00000257414	ensembl	human	known	70_37	missense	SNP	1.000	T
SERPINB6	5269	genome.wustl.edu	37	6	2955781	2955781	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr6:2955781C>T	ENST00000380520.1	-	2	2283	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	SERPINB6_ENST00000380539.1_Missense_Mutation_p.E97K|SERPINB6_ENST00000380524.1_Missense_Mutation_p.E97K|SERPINB6_ENST00000380546.3_Missense_Mutation_p.E97K|SERPINB6_ENST00000335686.5_Missense_Mutation_p.E97K|SERPINB6_ENST00000380529.1_Missense_Mutation_p.E97K			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	97					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	CAAGACTTTTCCCCAAAGAGC	0.517																																																	0													85.0	83.0	83.0					6																	2955781		2203	4300	6503	SO:0001583	missense	5269			Z22658	CCDS4479.1, CCDS75386.1, CCDS75387.1	6p25.2	2014-02-18	2005-08-18		ENSG00000124570	ENSG00000124570		"""Serine (or cysteine) peptidase inhibitors"""	8950	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase"""	173321	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 6"", ""deafness, autosomal recessive 91"""	PI6, DFNB91		8415716, 9858835, 20451170, 24172014	Standard	NM_004568		Approved	PTI, CAP	uc031smo.1	P35237	OTTHUMG00000016170	ENST00000380520.1:c.289G>A	6.37:g.2955781C>T	ENSP00000369891:p.Glu97Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBA8|Q59F97|Q5TD06|Q7Z2Y7|Q96J44|Q9UDI7	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.E97K	ENST00000380520.1	37	c.289	CCDS4479.1	6	.	.	.	.	.	.	.	.	.	.	C	27.2	4.813646	0.90790	.	.	ENSG00000124570	ENST00000380524;ENST00000380520;ENST00000335686;ENST00000380529;ENST00000380539;ENST00000380546	D;D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69;-1.69	4.97	4.97	0.65823	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.88713	0.6511	M	0.68593	2.085	0.51012	D	0.999909	D	0.89917	1.0	D	0.91635	0.999	D	0.89507	0.3768	10	0.87932	D	0	.	16.5227	0.84321	0.0:1.0:0.0:0.0	.	97	P35237	SPB6_HUMAN	K	97	ENSP00000369896:E97K;ENSP00000369891:E97K;ENSP00000338358:E97K;ENSP00000369901:E97K;ENSP00000369912:E97K;ENSP00000369919:E97K	ENSP00000338358:E97K	E	-	1	0	SERPINB6	2900780	0.996000	0.38824	0.360000	0.25837	0.967000	0.64934	3.314000	0.51943	2.672000	0.90937	0.561000	0.74099	GAA	SERPINB6	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.517	SERPINB6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB6	HGNC	protein_coding	OTTHUMT00000043422.1	C			2955781	-1	no_errors	ENST00000335686	ensembl	human	known	70_37	missense	SNP	0.998	T
SIRT6	51548	genome.wustl.edu	37	19	4174895	4174895	+	Missense_Mutation	SNP	T	T	G			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr19:4174895T>G	ENST00000337491.2	-	8	851	c.787A>C	c.(787-789)Acc>Ccc	p.T263P	SIRT6_ENST00000305232.6_Missense_Mutation_p.T236P|SIRT6_ENST00000381935.3_Missense_Mutation_p.T191P|SIRT6_ENST00000594279.1_Nonstop_Mutation_p.*177C|SIRT6_ENST00000601488.1_Nonstop_Mutation_p.*188C	NM_016539.2	NP_057623.2	Q8N6T7	SIR6_HUMAN	sirtuin 6	263	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|protein ADP-ribosylation (GO:0006471)|regulation of double-strand break repair via homologous recombination (GO:0010569)	nuclear telomeric heterochromatin (GO:0005724)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|lung(4)|ovary(1)|skin(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGAGCCGGGTCATGACCTCG	0.716																																																	0													21.0	19.0	20.0					19																	4174895		2186	4277	6463	SO:0001583	missense	51548			AF233396	CCDS12122.1, CCDS54199.1	19p13.3	2010-06-25	2010-06-25			ENSG00000077463			14934	protein-coding gene	gene with protein product		606211	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 6"", ""sirtuin (silent mating type information regulation 2 homolog) 6 (S. cerevisiae)"""			10873683	Standard	NM_016539		Approved		uc002lzo.3	Q8N6T7		ENST00000337491.2:c.787A>C	19.37:g.4174895T>G	ENSP00000337332:p.Thr263Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCD0|O75291|Q6IAF5|Q6PK99|Q8NCD2|Q9BSI5|Q9BWP3|Q9NRC7|Q9UQD1	Missense_Mutation	SNP	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	p.T263P	ENST00000337491.2	37	c.787	CCDS12122.1	19	.	.	.	.	.	.	.	.	.	.	T	10.38	1.335017	0.24253	.	.	ENSG00000077463	ENST00000337491;ENST00000305232;ENST00000381935	T;T;T	0.15017	2.46;2.46;2.46	4.28	0.196	0.15159	.	0.562395	0.19454	N	0.113870	T	0.07413	0.0187	N	0.11255	0.115	0.30212	N	0.797636	B;B	0.28026	0.17;0.198	B;B	0.31101	0.124;0.058	T	0.25916	-1.0118	10	0.28530	T	0.3	-13.3187	4.895	0.13746	0.1485:0.2023:0.0:0.6492	.	236;263	Q8N6T7-2;Q8N6T7	.;SIRT6_HUMAN	P	263;236;191	ENSP00000337332:T263P;ENSP00000305310:T236P;ENSP00000371360:T191P	ENSP00000305310:T236P	T	-	1	0	SIRT6	4125895	0.529000	0.26322	0.321000	0.25320	0.545000	0.35147	0.739000	0.26173	0.059000	0.16252	0.379000	0.24179	ACC	SIRT6	-	pfscan_Ssirtuin_cat_dom		0.716	SIRT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT6	HGNC	protein_coding	OTTHUMT00000457931.2	T			4174895	-1	no_errors	ENST00000337491	ensembl	human	known	70_37	missense	SNP	0.474	G
SIRT6	51548	genome.wustl.edu	37	19	4174895	4174895	+	Missense_Mutation	SNP	T	T	G			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr19:4174895T>G	ENST00000337491.2	-	8	851	c.787A>C	c.(787-789)Acc>Ccc	p.T263P	SIRT6_ENST00000305232.6_Missense_Mutation_p.T236P|SIRT6_ENST00000381935.3_Missense_Mutation_p.T191P|SIRT6_ENST00000594279.1_Nonstop_Mutation_p.*177C|SIRT6_ENST00000601488.1_Nonstop_Mutation_p.*188C	NM_016539.2	NP_057623.2	Q8N6T7	SIR6_HUMAN	sirtuin 6	263	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|protein ADP-ribosylation (GO:0006471)|regulation of double-strand break repair via homologous recombination (GO:0010569)	nuclear telomeric heterochromatin (GO:0005724)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|lung(4)|ovary(1)|skin(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGAGCCGGGTCATGACCTCG	0.716																																																	0													21.0	19.0	20.0					19																	4174895		2186	4277	6463	SO:0001583	missense	51548			AF233396	CCDS12122.1, CCDS54199.1	19p13.3	2010-06-25	2010-06-25			ENSG00000077463			14934	protein-coding gene	gene with protein product		606211	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 6"", ""sirtuin (silent mating type information regulation 2 homolog) 6 (S. cerevisiae)"""			10873683	Standard	NM_016539		Approved		uc002lzo.3	Q8N6T7		ENST00000337491.2:c.787A>C	19.37:g.4174895T>G	ENSP00000337332:p.Thr263Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCD0|O75291|Q6IAF5|Q6PK99|Q8NCD2|Q9BSI5|Q9BWP3|Q9NRC7|Q9UQD1	Missense_Mutation	SNP	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	p.T263P	ENST00000337491.2	37	c.787	CCDS12122.1	19	.	.	.	.	.	.	.	.	.	.	T	10.38	1.335017	0.24253	.	.	ENSG00000077463	ENST00000337491;ENST00000305232;ENST00000381935	T;T;T	0.15017	2.46;2.46;2.46	4.28	0.196	0.15159	.	0.562395	0.19454	N	0.113870	T	0.07413	0.0187	N	0.11255	0.115	0.30212	N	0.797636	B;B	0.28026	0.17;0.198	B;B	0.31101	0.124;0.058	T	0.25916	-1.0118	10	0.28530	T	0.3	-13.3187	4.895	0.13746	0.1485:0.2023:0.0:0.6492	.	236;263	Q8N6T7-2;Q8N6T7	.;SIRT6_HUMAN	P	263;236;191	ENSP00000337332:T263P;ENSP00000305310:T236P;ENSP00000371360:T191P	ENSP00000305310:T236P	T	-	1	0	SIRT6	4125895	0.529000	0.26322	0.321000	0.25320	0.545000	0.35147	0.739000	0.26173	0.059000	0.16252	0.379000	0.24179	ACC	SIRT6	-	pfscan_Ssirtuin_cat_dom		0.716	SIRT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT6	HGNC	protein_coding	OTTHUMT00000457931.2	T			4174895	-1	no_errors	ENST00000337491	ensembl	human	known	70_37	missense	SNP	0.474	G
SLC30A6	55676	genome.wustl.edu	37	2	32432000	32432000	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr2:32432000G>C	ENST00000282587.5	+	12	851	c.814G>C	c.(814-816)Gag>Cag	p.E272Q	SLC30A6_ENST00000435660.1_Missense_Mutation_p.E272Q|SLC30A6_ENST00000538303.1_Missense_Mutation_p.E243Q|SLC30A6_ENST00000357055.3_Missense_Mutation_p.E75Q|SLC30A6_ENST00000379343.2_Missense_Mutation_p.E312Q|SLC30A6_ENST00000406369.1_Missense_Mutation_p.E198Q	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	272					cellular protein metabolic process (GO:0044267)|Golgi to endosome transport (GO:0006895)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ACTCATCAGAGAGGTAAGATG	0.313																																																	0													97.0	94.0	95.0					2																	32432000		2203	4300	6503	SO:0001583	missense	55676			AK055663	CCDS1780.1, CCDS54341.1, CCDS54342.1, CCDS54343.1	2p22.3	2013-05-22			ENSG00000152683	ENSG00000152683		"""Solute carriers"""	19305	protein-coding gene	gene with protein product		611148					Standard	NM_017964		Approved	FLJ31101, ZNT6	uc002rof.2	Q6NXT4	OTTHUMG00000128456	ENST00000282587.5:c.814G>C	2.37:g.32432000G>C	ENSP00000282587:p.Glu272Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A5YM45|B7Z901|Q8N5C9|Q96NC3	Missense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.E272Q	ENST00000282587.5	37	c.814	CCDS1780.1	2	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733675	0.89482	.	.	ENSG00000152683	ENST00000379343;ENST00000282587;ENST00000435660;ENST00000538303;ENST00000357055;ENST00000406369	T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.75117	0.3806	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.76494	0.974;0.996;0.961;0.999	D;D;D;D	0.71656	0.924;0.928;0.919;0.974	T	0.74009	-0.3802	10	0.40728	T	0.16	-20.681	18.3378	0.90294	0.0:0.0:1.0:0.0	.	243;272;312;272	B7Z901;Q6NXT4-3;Q6NXT4-2;Q6NXT4	.;.;.;ZNT6_HUMAN	Q	312;272;272;243;75;198	ENSP00000368648:E312Q;ENSP00000282587:E272Q;ENSP00000399005:E272Q;ENSP00000440678:E243Q;ENSP00000349563:E75Q;ENSP00000384041:E198Q	ENSP00000282587:E272Q	E	+	1	0	SLC30A6	32285504	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.361000	0.97122	2.486000	0.83907	0.655000	0.94253	GAG	SLC30A6	-	pfam_Cation_efflux,tigrfam_Cation_efflux		0.313	SLC30A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A6	HGNC	protein_coding	OTTHUMT00000250254.2	G			32432000	+1	no_errors	ENST00000282587	ensembl	human	known	70_37	missense	SNP	1.000	C
SLC30A6	55676	genome.wustl.edu	37	2	32432000	32432000	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr2:32432000G>C	ENST00000282587.5	+	12	851	c.814G>C	c.(814-816)Gag>Cag	p.E272Q	SLC30A6_ENST00000435660.1_Missense_Mutation_p.E272Q|SLC30A6_ENST00000538303.1_Missense_Mutation_p.E243Q|SLC30A6_ENST00000357055.3_Missense_Mutation_p.E75Q|SLC30A6_ENST00000379343.2_Missense_Mutation_p.E312Q|SLC30A6_ENST00000406369.1_Missense_Mutation_p.E198Q	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	272					cellular protein metabolic process (GO:0044267)|Golgi to endosome transport (GO:0006895)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ACTCATCAGAGAGGTAAGATG	0.313																																																	0													97.0	94.0	95.0					2																	32432000		2203	4300	6503	SO:0001583	missense	55676			AK055663	CCDS1780.1, CCDS54341.1, CCDS54342.1, CCDS54343.1	2p22.3	2013-05-22			ENSG00000152683	ENSG00000152683		"""Solute carriers"""	19305	protein-coding gene	gene with protein product		611148					Standard	NM_017964		Approved	FLJ31101, ZNT6	uc002rof.2	Q6NXT4	OTTHUMG00000128456	ENST00000282587.5:c.814G>C	2.37:g.32432000G>C	ENSP00000282587:p.Glu272Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A5YM45|B7Z901|Q8N5C9|Q96NC3	Missense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.E272Q	ENST00000282587.5	37	c.814	CCDS1780.1	2	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733675	0.89482	.	.	ENSG00000152683	ENST00000379343;ENST00000282587;ENST00000435660;ENST00000538303;ENST00000357055;ENST00000406369	T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.75117	0.3806	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.76494	0.974;0.996;0.961;0.999	D;D;D;D	0.71656	0.924;0.928;0.919;0.974	T	0.74009	-0.3802	10	0.40728	T	0.16	-20.681	18.3378	0.90294	0.0:0.0:1.0:0.0	.	243;272;312;272	B7Z901;Q6NXT4-3;Q6NXT4-2;Q6NXT4	.;.;.;ZNT6_HUMAN	Q	312;272;272;243;75;198	ENSP00000368648:E312Q;ENSP00000282587:E272Q;ENSP00000399005:E272Q;ENSP00000440678:E243Q;ENSP00000349563:E75Q;ENSP00000384041:E198Q	ENSP00000282587:E272Q	E	+	1	0	SLC30A6	32285504	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.361000	0.97122	2.486000	0.83907	0.655000	0.94253	GAG	SLC30A6	-	pfam_Cation_efflux,tigrfam_Cation_efflux		0.313	SLC30A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A6	HGNC	protein_coding	OTTHUMT00000250254.2	G			32432000	+1	no_errors	ENST00000282587	ensembl	human	known	70_37	missense	SNP	1.000	C
SIX3	6496	genome.wustl.edu	37	2	45169642	45169642	+	Silent	SNP	C	C	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr2:45169642C>A	ENST00000260653.3	+	1	741	c.399C>A	c.(397-399)cgC>cgA	p.R133R	SIX3-AS1_ENST00000419364.1_RNA|SIX3-AS1_ENST00000456467.1_RNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	133					brain development (GO:0007420)|circadian behavior (GO:0048512)|diencephalon development (GO:0021536)|eye development (GO:0001654)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|lens induction in camera-type eye (GO:0060235)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein import into nucleus (GO:0006606)|telencephalon development (GO:0021537)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|transcription corepressor binding (GO:0001222)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CGATCCTGCGCGCGCGCGCCG	0.662																																																	0													12.0	15.0	14.0					2																	45169642		2072	4114	6186	SO:0001819	synonymous_variant	6496			AF092047	CCDS1821.1	2p21	2011-06-20	2007-07-13		ENSG00000138083	ENSG00000138083		"""Homeoboxes / SINE class"""	10889	protein-coding gene	gene with protein product		603714	"""holoprosencephaly 2, alobar or semilobar"", ""sine oculis homeobox homolog 3 (Drosophila)"""	HPE2		9889003, 10369266	Standard	NM_005413		Approved		uc002run.2	O95343	OTTHUMG00000152424	ENST00000260653.3:c.399C>A	2.37:g.45169642C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D6W5A5|Q53T42	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.R133	ENST00000260653.3	37	c.399	CCDS1821.1	2																																																																																			SIX3	-	NULL		0.662	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX3	HGNC	protein_coding	OTTHUMT00000326192.1	C	NM_005413		45169642	+1	no_errors	ENST00000260653	ensembl	human	known	70_37	silent	SNP	1.000	A
SLITRK5	26050	genome.wustl.edu	37	13	88328010	88328010	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr13:88328010G>A	ENST00000325089.6	+	2	586	c.367G>A	c.(367-369)Ggg>Agg	p.G123R	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	123					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.G123W(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CATTGAGACCGGGGCTTTCCA	0.453																																																	1	Substitution - Missense(1)	lung(1)											100.0	104.0	103.0					13																	88328010		2203	4300	6503	SO:0001583	missense	26050			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.367G>A	13.37:g.88328010G>A	ENSP00000366283:p.Gly123Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.G123R	ENST00000325089.6	37	c.367	CCDS9465.1	13	.	.	.	.	.	.	.	.	.	.	G	16.66	3.183748	0.57800	.	.	ENSG00000165300	ENST00000325089	T	0.53857	0.6	5.94	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.67363	0.2885	L	0.58354	1.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67209	-0.5728	9	.	.	.	-12.3867	12.9129	0.58190	0.0782:0.0:0.9218:0.0	.	123	O94991	SLIK5_HUMAN	R	123	ENSP00000366283:G123R	.	G	+	1	0	SLITRK5	87126011	1.000000	0.71417	0.896000	0.35187	0.946000	0.59487	9.869000	0.99810	1.533000	0.49186	0.561000	0.74099	GGG	SLITRK5	-	smart_Leu-rich_rpt_typical-subtyp		0.453	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	HGNC	protein_coding	OTTHUMT00000045416.3	G			88328010	+1	no_errors	ENST00000325089	ensembl	human	known	70_37	missense	SNP	0.999	A
SLITRK5	26050	genome.wustl.edu	37	13	88328010	88328010	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr13:88328010G>A	ENST00000325089.6	+	2	586	c.367G>A	c.(367-369)Ggg>Agg	p.G123R	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	123					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.G123W(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CATTGAGACCGGGGCTTTCCA	0.453																																																	1	Substitution - Missense(1)	lung(1)											100.0	104.0	103.0					13																	88328010		2203	4300	6503	SO:0001583	missense	26050			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.367G>A	13.37:g.88328010G>A	ENSP00000366283:p.Gly123Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.G123R	ENST00000325089.6	37	c.367	CCDS9465.1	13	.	.	.	.	.	.	.	.	.	.	G	16.66	3.183748	0.57800	.	.	ENSG00000165300	ENST00000325089	T	0.53857	0.6	5.94	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.67363	0.2885	L	0.58354	1.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67209	-0.5728	9	.	.	.	-12.3867	12.9129	0.58190	0.0782:0.0:0.9218:0.0	.	123	O94991	SLIK5_HUMAN	R	123	ENSP00000366283:G123R	.	G	+	1	0	SLITRK5	87126011	1.000000	0.71417	0.896000	0.35187	0.946000	0.59487	9.869000	0.99810	1.533000	0.49186	0.561000	0.74099	GGG	SLITRK5	-	smart_Leu-rich_rpt_typical-subtyp		0.453	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	HGNC	protein_coding	OTTHUMT00000045416.3	G			88328010	+1	no_errors	ENST00000325089	ensembl	human	known	70_37	missense	SNP	0.999	A
SLURP1	57152	genome.wustl.edu	37	8	143823321	143823321	+	Silent	SNP	G	G	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr8:143823321G>A	ENST00000246515.1	-	2	103	c.78C>T	c.(76-78)taC>taT	p.Y26Y		NM_020427.2	NP_065160.1	P55000	SLUR1_HUMAN	secreted LY6/PLAUR domain containing 1	26	UPAR/Ly6.				cell activation (GO:0001775)|cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)			breast(1)|lung(7)|ovary(1)	9	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CCTTGCAGGTGTAGCACTTGA	0.627																																																	0													88.0	84.0	85.0					8																	143823321		2202	4300	6502	SO:0001819	synonymous_variant	57152			AY579080	CCDS6387.1	8q24.3	2004-11-16			ENSG00000126233	ENSG00000126233			18746	protein-coding gene	gene with protein product	"""lymphocyte antigen 6-like secreted"", ""ARS component B"""	606119				11285253, 10211827	Standard	NM_020427		Approved	ARS, ANUP, MDM, ArsB, LY6LS	uc003ywy.3	P55000	OTTHUMG00000164685	ENST00000246515.1:c.78C>T	8.37:g.143823321G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53YJ6|Q6PUA6|Q92483	Silent	SNP	pfam_LY6_UPAR	p.Y26	ENST00000246515.1	37	c.78	CCDS6387.1	8																																																																																			SLURP1	-	pfam_LY6_UPAR		0.627	SLURP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLURP1	HGNC	protein_coding	OTTHUMT00000379741.1	G	NM_020427		143823321	-1	no_errors	ENST00000246515	ensembl	human	known	70_37	silent	SNP	0.724	A
SMYD3	64754	genome.wustl.edu	37	1	246485656	246485656	+	Intron	SNP	G	G	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr1:246485656G>A	ENST00000388985.4	-	5	531				SMYD3_ENST00000541742.1_Intron|SMYD3_ENST00000490107.1_Intron|SMYD3-IT1_ENST00000426929.1_RNA			Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3						cellular response to dexamethasone stimulus (GO:0071549)|establishment of protein localization (GO:0045184)|myotube cell development (GO:0014904)|negative regulation of protein kinase activity (GO:0006469)|nucleosome assembly (GO:0006334)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		gcaacagggtgagaccctatt	0.463																																																	0																																										SO:0001627	intron_variant	0			AK023594	CCDS31083.1	1q44	2011-07-01	2003-05-14	2003-05-16	ENSG00000185420	ENSG00000185420		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	15513	protein-coding gene	gene with protein product		608783	"""zinc finger, MYND domain containing 1"""	ZNFN3A1, ZMYND1			Standard	NM_022743		Approved	KMT3E	uc001ibl.3	Q9H7B4	OTTHUMG00000040508	ENST00000388985.4:c.531+4846C>T	1.37:g.246485656G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0P0|B1AN38|Q86TL8|Q8N5Z6|Q96AI5	RNA	SNP	-	NULL	ENST00000388985.4	37	NULL	CCDS53486.1	1																																																																																			SMYD3-IT1	-	-		0.463	SMYD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD3-IT1	HGNC	protein_coding		G	NM_022743		246485656	-1	no_errors	ENST00000426929	ensembl	human	known	70_37	rna	SNP	0.050	A
RILPL1	353116	genome.wustl.edu	37	12	123956915	123956915	+	3'UTR	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr12:123956915G>T	ENST00000376874.4	-	0	1617				RILPL1_ENST00000544468.1_3'UTR|SNRNP35_ENST00000527158.2_3'UTR|RILPL1_ENST00000340724.6_3'UTR	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1						epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)|regulation of neuron death (GO:1901214)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		TTTAGAGTTTGGCGTCAGTTT	0.428																																																	0																																										SO:0001624	3_prime_UTR_variant	11066			AK097550	CCDS45006.1	12q24.31	2007-11-27			ENSG00000188026	ENSG00000188026			26814	protein-coding gene	gene with protein product		614092				14668488	Standard	NM_178314		Approved	FLJ39378	uc001ufe.2	Q5EBL4	OTTHUMG00000168686	ENST00000376874.4:c.*170C>A	12.37:g.123956915G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q66K36|Q8N1M0	RNA	SNP	-	NULL	ENST00000376874.4	37	NULL	CCDS45006.1	12																																																																																			SNRNP35	-	-		0.428	RILPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP35	HGNC	protein_coding	OTTHUMT00000400595.1	G	NM_178314		123956915	+1	no_errors	ENST00000527158	ensembl	human	known	70_37	rna	SNP	0.866	T
SPECC1L	23384	genome.wustl.edu	37	22	24724888	24724888	+	Splice_Site	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr22:24724888G>T	ENST00000314328.9	+	7	2505		c.e7+1		SPECC1L_ENST00000437398.1_Splice_Site|SPECC1L_ENST00000541492.1_Splice_Site|SPECC1L-ADORA2A_ENST00000358654.2_Splice_Site	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like						actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						AAGACTTCGGGTAGGATAAAT	0.348																																																	0													95.0	93.0	94.0					22																	24724888		2203	4300	6503	SO:0001630	splice_region_variant	23384			AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.2220+1G>T	22.37:g.24724888G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z758|F5H1H6|O15081	Splice_Site	SNP	-	e5+1	ENST00000314328.9	37	c.2220+1	CCDS33619.1	22	.	.	.	.	.	.	.	.	.	.	G	28.5	4.929132	0.92389	.	.	ENSG00000100014	ENST00000398280;ENST00000437398;ENST00000421374;ENST00000314328;ENST00000541492	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8734	0.92325	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPECC1L	23054888	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.140000	0.94607	2.771000	0.95319	0.650000	0.86243	.	SPECC1L	-	-		0.348	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPECC1L	HGNC	protein_coding	OTTHUMT00000319986.2	G	NM_015330	Intron	24724888	+1	no_errors	ENST00000314328	ensembl	human	known	70_37	splice_site	SNP	1.000	T
STK11	6794	genome.wustl.edu	37	19	1207060	1207061	+	Frame_Shift_Ins	INS	-	-	TGATGGGG	rs587783061		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr19:1207060_1207061insTGATGGGG	ENST00000326873.7	+	1	1321_1322	c.148_149insTGATGGGG	c.(148-150)ctgfs	p.-52fs	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11						activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.?(3)|p.L50_D53del(1)|p.A43_L50del(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCAAGTACCTGATGGGGGAC	0.614		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"""E, M, O"""	25	Whole gene deletion(20)|Deletion - In frame(2)|Unknown(2)|Deletion - Frameshift(1)	cervix(15)|lung(5)|skin(1)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)																																								SO:0001589	frameshift_variant	6794	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.149_156dupTGATGGGG	19.37:g.1207061_1207068dupTGATGGGG	ENSP00000324856:p.Gly52fs	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBX7|E7EW76	Frame_Shift_Ins	INS	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.D53fs	ENST00000326873.7	37	c.148_149	CCDS45896.1	19																																																																																			STK11	-	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		0.614	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	STK11	HGNC	protein_coding	OTTHUMT00000449839.3	-	NM_000455		1207061	+1	no_errors	ENST00000326873	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	TGATGGGG
STX3	6809	genome.wustl.edu	37	11	59560600	59560600	+	Silent	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:59560600G>T	ENST00000337979.4	+	7	1042	c.495G>T	c.(493-495)ctG>ctT	p.L165L	STX3_ENST00000300150.7_Silent_p.L134L|STX3_ENST00000535361.1_Silent_p.L165L|STX3_ENST00000529177.1_Silent_p.L165L|STX3_ENST00000437946.2_Silent_p.L68L	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3	165					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|long-term synaptic potentiation (GO:0060291)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|neurotransmitter transport (GO:0006836)	apical plasma membrane (GO:0016324)|azurophil granule (GO:0042582)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|vacuole (GO:0005773)	arachidonic acid binding (GO:0050544)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						ATGAGGAGCTGGAGGAGATGT	0.507																																																	0													102.0	95.0	97.0					11																	59560600		2201	4295	6496	SO:0001819	synonymous_variant	6809			AJ002076	CCDS7975.1, CCDS53637.1	11q12.1	2008-02-05	2006-04-25	2006-04-25	ENSG00000166900	ENSG00000166900			11438	protein-coding gene	gene with protein product		600876	"""syntaxin 3A"""	STX3A		16598260, 16339081	Standard	NM_004177		Approved		uc001nog.3	Q13277	OTTHUMG00000167353	ENST00000337979.4:c.495G>T	11.37:g.59560600G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DME0|O43750|O43751|Q15360	Silent	SNP	pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.L165	ENST00000337979.4	37	c.495	CCDS7975.1	11																																																																																			STX3	-	superfamily_t-SNARE		0.507	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX3	HGNC	protein_coding	OTTHUMT00000394264.1	G	NM_004177		59560600	+1	no_errors	ENST00000337979	ensembl	human	known	70_37	silent	SNP	1.000	T
SUSD2	56241	genome.wustl.edu	37	22	24579157	24579158	+	Missense_Mutation	DNP	GA	GA	TC	rs201628954|rs200945728		TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G|A	G|A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr22:24579157_24579158GA>TC	ENST00000358321.3	+	2	470_471	c.209_210GA>TC	c.(208-210)gGA>gTC	p.G70V		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	70					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.G70>?(4)|p.G70fs*28(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CCCTACTCAGGATCCATGATGG	0.624																																																	5	Complex(4)|Deletion - Frameshift(1)	skin(2)|ovary(1)|NS(1)|lung(1)																																								SO:0001583	missense	56241			AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	Exception_encountered	22.37:g.24579157_24579158delinsTC	ENSP00000351075:p.Gly70Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H5Y6	Missense_Mutation|Silent	SNP	pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Complement_control_module,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP	p.G70V|p.G70	ENST00000358321.3	37	c.209|c.210	CCDS13824.1	22																																																																																			SUSD2	-	superfamily_Ig_E-set		0.624	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD2	HGNC	protein_coding	OTTHUMT00000320088.1	G|A	NM_019601		24579157|24579158	+1	no_errors	ENST00000358321	ensembl	human	known	70_37	missense|silent	SNP	1.000|0.995	T|C
SYT7	9066	genome.wustl.edu	37	11	61291945	61291945	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:61291945G>A	ENST00000263846.4	-	6	1009	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	SYT7_ENST00000542836.1_Missense_Mutation_p.R272C|SYT7_ENST00000535826.1_Missense_Mutation_p.R347C|SYT7_ENST00000539008.1_Missense_Mutation_p.R511C|SYT7_ENST00000542670.1_Missense_Mutation_p.R436C|SYT7_ENST00000540677.1_Missense_Mutation_p.R303C|SYT7_ENST00000540831.1_5'UTR	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	228	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CGGCTGAAGCGGTCATAGTCC	0.557																																																	0													93.0	85.0	88.0					11																	61291945		2202	4299	6501	SO:0001583	missense	9066			AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"""Synaptotagmins"""	11514	protein-coding gene	gene with protein product		604146	"""prostate cancer associated protein 7"""	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.682C>T	11.37:g.61291945G>A	ENSP00000263846:p.Arg228Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	F5GZU9|Q08AH6	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.R228C	ENST00000263846.4	37	c.682	CCDS31577.1	11	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628315	0.87560	.	.	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826	T;T;T;T;T;T	0.09538	2.97;2.97;2.97;2.97;2.97;2.97	4.69	4.69	0.59074	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.41419	0.1158	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.53180	-0.8475	10	0.87932	D	0	.	17.9665	0.89100	0.0:0.0:1.0:0.0	.	303;228	F5GZU9;O43581	.;SYT7_HUMAN	C	228;303;511;272;436;347	ENSP00000263846:R228C;ENSP00000444201:R303C;ENSP00000439694:R511C;ENSP00000444568:R272C;ENSP00000444019:R436C;ENSP00000437720:R347C	ENSP00000263846:R228C	R	-	1	0	SYT7	61048521	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.751000	0.98889	2.287000	0.76781	0.462000	0.41574	CGC	SYT7	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.557	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT7	HGNC	protein_coding	OTTHUMT00000398733.1	G	NM_004200		61291945	-1	no_errors	ENST00000263846	ensembl	human	known	70_37	missense	SNP	1.000	A
SYT7	9066	genome.wustl.edu	37	11	61291945	61291945	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:61291945G>A	ENST00000263846.4	-	6	1009	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	SYT7_ENST00000542836.1_Missense_Mutation_p.R272C|SYT7_ENST00000535826.1_Missense_Mutation_p.R347C|SYT7_ENST00000539008.1_Missense_Mutation_p.R511C|SYT7_ENST00000542670.1_Missense_Mutation_p.R436C|SYT7_ENST00000540677.1_Missense_Mutation_p.R303C|SYT7_ENST00000540831.1_5'UTR	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	228	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CGGCTGAAGCGGTCATAGTCC	0.557																																																	0													93.0	85.0	88.0					11																	61291945		2202	4299	6501	SO:0001583	missense	9066			AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"""Synaptotagmins"""	11514	protein-coding gene	gene with protein product		604146	"""prostate cancer associated protein 7"""	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.682C>T	11.37:g.61291945G>A	ENSP00000263846:p.Arg228Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	F5GZU9|Q08AH6	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.R228C	ENST00000263846.4	37	c.682	CCDS31577.1	11	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628315	0.87560	.	.	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826	T;T;T;T;T;T	0.09538	2.97;2.97;2.97;2.97;2.97;2.97	4.69	4.69	0.59074	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.41419	0.1158	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.53180	-0.8475	10	0.87932	D	0	.	17.9665	0.89100	0.0:0.0:1.0:0.0	.	303;228	F5GZU9;O43581	.;SYT7_HUMAN	C	228;303;511;272;436;347	ENSP00000263846:R228C;ENSP00000444201:R303C;ENSP00000439694:R511C;ENSP00000444568:R272C;ENSP00000444019:R436C;ENSP00000437720:R347C	ENSP00000263846:R228C	R	-	1	0	SYT7	61048521	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.751000	0.98889	2.287000	0.76781	0.462000	0.41574	CGC	SYT7	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.557	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT7	HGNC	protein_coding	OTTHUMT00000398733.1	G	NM_004200		61291945	-1	no_errors	ENST00000263846	ensembl	human	known	70_37	missense	SNP	1.000	A
TAS2R43	259289	genome.wustl.edu	37	12	11244687	11244687	+	Missense_Mutation	SNP	G	G	C	rs200922417|rs113197337	byFrequency	TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr12:11244687G>C	ENST00000531678.1	-	1	225	c.142C>G	c.(142-144)Ctc>Gtc	p.L48V	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	48					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		AGAGCAGTGAGAATTTGGTCA	0.383																																																	0													53.0	48.0	49.0					12																	11244687		2019	4101	6120	SO:0001583	missense	259289			AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537		ENST00000531678.1:c.142C>G	12.37:g.11244687G>C	ENSP00000431719:p.Leu48Val	Somatic		WXS	Illumina HiSeq	Phase_IV	P59546|Q645X4	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.L48V	ENST00000531678.1	37	c.142	CCDS53749.1	12	.	.	.	.	.	.	.	.	.	.	-	6.625	0.483814	0.12581	.	.	ENSG00000255374	ENST00000531678	T	0.01484	4.84	1.97	0.973	0.19710	.	.	.	.	.	T	0.06142	0.0159	M	0.90145	3.09	0.80722	P	0.0	B	0.34264	0.446	B	0.43867	0.434	T	0.01048	-1.1469	8	0.56958	D	0.05	.	6.121	0.20154	0.0:0.3247:0.6753:0.0	.	48	P59537	T2R43_HUMAN	V	48	ENSP00000431719:L48V	ENSP00000431719:L48V	L	-	1	0	TAS2R43	11135954	0.601000	0.26907	0.010000	0.14722	0.027000	0.11550	1.075000	0.30716	0.130000	0.18549	0.184000	0.17185	CTC	TAS2R43	-	pfam_TAS2_rcpt		0.383	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R43	HGNC	protein_coding	OTTHUMT00000383561.1	G	NM_176884		11244687	-1	no_errors	ENST00000531678	ensembl	human	known	70_37	missense	SNP	0.022	C
TENM3	55714	genome.wustl.edu	37	4	183720851	183720851	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr4:183720851G>A	ENST00000511685.1	+	28	7570	c.7447G>A	c.(7447-7449)Gcg>Acg	p.A2483T	TENM3_ENST00000406950.2_Missense_Mutation_p.A2483T			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2483					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ggccggcggcgcgcAGTCCTG	0.687																																																	0																																										SO:0001583	missense	55714			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.7447G>A	4.37:g.183720851G>A	ENSP00000424226:p.Ala2483Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.A2483T	ENST00000511685.1	37	c.7447	CCDS47165.1	4	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147010	0.37923	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.85955	-2.05;-2.05	4.79	4.79	0.61399	.	.	.	.	.	T	0.73133	0.3548	N	0.08118	0	0.28510	N	0.913607	B	0.21147	0.052	B	0.14023	0.01	T	0.57039	-0.7879	9	0.19147	T	0.46	.	18.3845	0.90462	0.0:0.0:1.0:0.0	.	2483	Q9P273	TEN3_HUMAN	T	2483	ENSP00000424226:A2483T;ENSP00000385276:A2483T	ENSP00000385276:A2483T	A	+	1	0	ODZ3	183957845	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	6.375000	0.73137	2.644000	0.89710	0.557000	0.71058	GCG	TENM3	-	NULL		0.687	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	HGNC	protein_coding	OTTHUMT00000361734.1	G			183720851	+1	no_errors	ENST00000406950	ensembl	human	known	70_37	missense	SNP	1.000	A
TENM4	26011	genome.wustl.edu	37	11	78516464	78516464	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:78516464C>A	ENST00000278550.7	-	15	2514	c.2052G>T	c.(2050-2052)tgG>tgT	p.W684C		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	684	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										TGGTGCCTCCCCATCCCACAG	0.607																																																	0													46.0	54.0	51.0					11																	78516464		2140	4237	6377	SO:0001583	missense	26011			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.2052G>T	11.37:g.78516464C>A	ENSP00000278550:p.Trp684Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.W684C	ENST00000278550.7	37	c.2052	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588445	0.86851	.	.	ENSG00000149256	ENST00000278550	T	0.12672	2.66	5.1	5.1	0.69264	Epidermal growth factor-like (1);EGF-like region, conserved site (2);	0.000000	0.85682	D	0.000000	T	0.52386	0.1731	H	0.95745	3.715	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.67960	-0.5535	9	.	.	.	.	18.7262	0.91714	0.0:1.0:0.0:0.0	.	684	Q6N022	TEN4_HUMAN	C	684	ENSP00000278550:W684C	.	W	-	3	0	ODZ4	78194112	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.651000	0.83577	2.644000	0.89710	0.563000	0.77884	TGG	TENM4	-	pfam_EGF_extracell,smart_EG-like_dom		0.607	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	C			78516464	-1	no_errors	ENST00000278550	ensembl	human	known	70_37	missense	SNP	1.000	A
TGM4	7047	genome.wustl.edu	37	3	44951664	44951664	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr3:44951664G>C	ENST00000296125.4	+	11	1478	c.1410G>C	c.(1408-1410)gaG>gaC	p.E470D		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	470					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CTGTAAAAGAGAACTTTCTTC	0.478																																																	0													81.0	81.0	81.0					3																	44951664		2203	4300	6503	SO:0001583	missense	7047			BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.1410G>C	3.37:g.44951664G>C	ENSP00000296125:p.Glu470Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16707|Q96QN4	Missense_Mutation	SNP	pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.E470D	ENST00000296125.4	37	c.1410	CCDS2723.1	3	.	.	.	.	.	.	.	.	.	.	G	3.452	-0.111721	0.06881	.	.	ENSG00000163810	ENST00000296125	T	0.81078	-1.45	2.34	-0.00579	0.14016	.	5.830720	0.02508	U	0.091201	T	0.74038	0.3664	L	0.49778	1.585	0.09310	N	1	B	0.26445	0.149	B	0.24269	0.052	T	0.49908	-0.8889	10	0.25751	T	0.34	.	5.5474	0.17071	0.0:0.2213:0.5521:0.2266	.	470	P49221	TGM4_HUMAN	D	470	ENSP00000296125:E470D	ENSP00000296125:E470D	E	+	3	2	TGM4	44926668	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	0.229000	0.17833	-0.200000	0.10300	-0.518000	0.04402	GAG	TGM4	-	NULL		0.478	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM4	HGNC	protein_coding	OTTHUMT00000256755.2	G	NM_003241		44951664	+1	no_errors	ENST00000296125	ensembl	human	known	70_37	missense	SNP	0.001	C
TGM4	7047	genome.wustl.edu	37	3	44951664	44951664	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr3:44951664G>C	ENST00000296125.4	+	11	1478	c.1410G>C	c.(1408-1410)gaG>gaC	p.E470D		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	470					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CTGTAAAAGAGAACTTTCTTC	0.478																																																	0													81.0	81.0	81.0					3																	44951664		2203	4300	6503	SO:0001583	missense	7047			BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.1410G>C	3.37:g.44951664G>C	ENSP00000296125:p.Glu470Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16707|Q96QN4	Missense_Mutation	SNP	pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.E470D	ENST00000296125.4	37	c.1410	CCDS2723.1	3	.	.	.	.	.	.	.	.	.	.	G	3.452	-0.111721	0.06881	.	.	ENSG00000163810	ENST00000296125	T	0.81078	-1.45	2.34	-0.00579	0.14016	.	5.830720	0.02508	U	0.091201	T	0.74038	0.3664	L	0.49778	1.585	0.09310	N	1	B	0.26445	0.149	B	0.24269	0.052	T	0.49908	-0.8889	10	0.25751	T	0.34	.	5.5474	0.17071	0.0:0.2213:0.5521:0.2266	.	470	P49221	TGM4_HUMAN	D	470	ENSP00000296125:E470D	ENSP00000296125:E470D	E	+	3	2	TGM4	44926668	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	0.229000	0.17833	-0.200000	0.10300	-0.518000	0.04402	GAG	TGM4	-	NULL		0.478	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM4	HGNC	protein_coding	OTTHUMT00000256755.2	G	NM_003241		44951664	+1	no_errors	ENST00000296125	ensembl	human	known	70_37	missense	SNP	0.001	C
TJP2	9414	genome.wustl.edu	37	9	71851009	71851009	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr9:71851009G>C	ENST00000377245.4	+	13	2054	c.1846G>C	c.(1846-1848)Gag>Cag	p.E616Q	TJP2_ENST00000453658.2_Missense_Mutation_p.E593Q|TJP2_ENST00000535702.1_Missense_Mutation_p.E620Q|TJP2_ENST00000348208.4_Missense_Mutation_p.E616Q|TJP2_ENST00000265384.7_Missense_Mutation_p.E616Q|TJP2_ENST00000539225.1_Missense_Mutation_p.E647Q	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	616	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CTTTGAATGTGAGAAGGAAAC	0.498																																																	0													96.0	91.0	93.0					9																	71851009		2203	4300	6503	SO:0001583	missense	9414			L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.1846G>C	9.37:g.71851009G>C	ENSP00000366453:p.Glu616Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	pfam_PDZ,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS2,prints_ZonOcculdens	p.E647Q	ENST00000377245.4	37	c.1939	CCDS6627.1	9	.	.	.	.	.	.	.	.	.	.	G	32	5.137641	0.94517	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.08634	3.07;3.07;3.07;3.07;3.07;3.07	5.43	5.43	0.79202	Src homology-3 domain (3);Variant SH3 (1);	0.053759	0.64402	D	0.000001	T	0.27866	0.0686	L	0.58354	1.805	0.80722	D	1	D;D;P;D;D	0.71674	0.961;0.995;0.928;0.998;0.996	P;D;P;D;D	0.74023	0.756;0.972;0.714;0.982;0.917	T	0.00271	-1.1859	10	0.87932	D	0	.	19.589	0.95499	0.0:0.0:1.0:0.0	.	647;620;616;616;616	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	Q	593;616;616;616;620;647	ENSP00000392178:E593Q;ENSP00000366453:E616Q;ENSP00000345893:E616Q;ENSP00000265384:E616Q;ENSP00000442090:E620Q;ENSP00000438262:E647Q	ENSP00000265384:E616Q	E	+	1	0	TJP2	71040829	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.678000	0.98647	2.709000	0.92574	0.491000	0.48974	GAG	TJP2	-	pfam_SH3_2,superfamily_SH3_domain,pfscan_SH3_domain		0.498	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TJP2	HGNC	protein_coding	OTTHUMT00000052572.2	G	NM_201629		71851009	+1	no_errors	ENST00000539225	ensembl	human	known	70_37	missense	SNP	1.000	C
TLL1	7092	genome.wustl.edu	37	4	166965573	166965573	+	Intron	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr4:166965573C>T	ENST00000061240.2	+	12	2171				TLL1_ENST00000507499.1_Silent_p.L527L	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1						cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CTCTCATCCTCATCTGGAAGC	0.453																																																	0																																										SO:0001627	intron_variant	7092			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.1524+1002C>T	4.37:g.166965573C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMU2|Q96AN3|Q9NQS4	Silent	SNP	pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A	p.L527	ENST00000061240.2	37	c.1581	CCDS3811.1	4																																																																																			TLL1	-	pfam_CUB,superfamily_CUB,smart_CUB,pirsf_BMP_1/tolloid-like,pfscan_CUB		0.453	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL1	HGNC	protein_coding	OTTHUMT00000363821.1	C			166965573	+1	no_errors	ENST00000507499	ensembl	human	novel	70_37	silent	SNP	0.000	T
TNKS	8658	genome.wustl.edu	37	8	9563734	9563734	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr8:9563734C>T	ENST00000310430.6	+	7	1266	c.1240C>T	c.(1240-1242)Cat>Tat	p.H414Y	TNKS_ENST00000518281.1_Missense_Mutation_p.H177Y|TNKS_ENST00000518027.1_3'UTR|TNKS_ENST00000520408.1_Missense_Mutation_p.H414Y	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	414					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TTCATATGGACATTATGAAGT	0.303																																																	0													80.0	80.0	80.0					8																	9563734		2202	4297	6499	SO:0001583	missense	8658			AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.1240C>T	8.37:g.9563734C>T	ENSP00000311579:p.His414Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	O95272|Q4G0F2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt	p.H414Y	ENST00000310430.6	37	c.1240	CCDS5974.1	8	.	.	.	.	.	.	.	.	.	.	C	26.3	4.726867	0.89390	.	.	ENSG00000173273	ENST00000520408;ENST00000310430;ENST00000518281	T;T;T	0.66995	-0.24;-0.24;-0.24	5.87	5.87	0.94306	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.78027	0.4219	L	0.39566	1.225	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.85130	0.994;0.997	T	0.77606	-0.2525	10	0.66056	D	0.02	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	414;414	E7EWY6;O95271	.;TNKS1_HUMAN	Y	414;414;177	ENSP00000428299:H414Y;ENSP00000311579:H414Y;ENSP00000429890:H177Y	ENSP00000311579:H414Y	H	+	1	0	TNKS	9601144	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.941000	0.99782	0.655000	0.94253	CAT	TNKS	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.303	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS	HGNC	protein_coding	OTTHUMT00000206935.1	C	NM_003747		9563734	+1	no_errors	ENST00000310430	ensembl	human	known	70_37	missense	SNP	1.000	T
TNKS	8658	genome.wustl.edu	37	8	9563734	9563734	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr8:9563734C>T	ENST00000310430.6	+	7	1266	c.1240C>T	c.(1240-1242)Cat>Tat	p.H414Y	TNKS_ENST00000518281.1_Missense_Mutation_p.H177Y|TNKS_ENST00000518027.1_3'UTR|TNKS_ENST00000520408.1_Missense_Mutation_p.H414Y	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	414					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TTCATATGGACATTATGAAGT	0.303																																																	0													80.0	80.0	80.0					8																	9563734		2202	4297	6499	SO:0001583	missense	8658			AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.1240C>T	8.37:g.9563734C>T	ENSP00000311579:p.His414Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	O95272|Q4G0F2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt	p.H414Y	ENST00000310430.6	37	c.1240	CCDS5974.1	8	.	.	.	.	.	.	.	.	.	.	C	26.3	4.726867	0.89390	.	.	ENSG00000173273	ENST00000520408;ENST00000310430;ENST00000518281	T;T;T	0.66995	-0.24;-0.24;-0.24	5.87	5.87	0.94306	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.78027	0.4219	L	0.39566	1.225	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.85130	0.994;0.997	T	0.77606	-0.2525	10	0.66056	D	0.02	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	414;414	E7EWY6;O95271	.;TNKS1_HUMAN	Y	414;414;177	ENSP00000428299:H414Y;ENSP00000311579:H414Y;ENSP00000429890:H177Y	ENSP00000311579:H414Y	H	+	1	0	TNKS	9601144	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.941000	0.99782	0.655000	0.94253	CAT	TNKS	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.303	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS	HGNC	protein_coding	OTTHUMT00000206935.1	C	NM_003747		9563734	+1	no_errors	ENST00000310430	ensembl	human	known	70_37	missense	SNP	1.000	T
TRIM64C	646754	genome.wustl.edu	37	11	49078714	49078714	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr11:49078714C>T	ENST00000530230.1	-	4	714	c.715G>A	c.(715-717)Gtg>Atg	p.V239M		NM_001206631.1	NP_001193560.1	A6NLI5	TR64C_HUMAN	tripartite motif containing 64C	238						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|stomach(1)	2						AGCAGCTCCACGTCAGGCATG	0.493																																																	0																																										SO:0001583	missense	646754				CCDS73287.1	11p11.12	2014-04-02	2011-01-25		ENSG00000214891	ENSG00000214891		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	37148	protein-coding gene	gene with protein product			"""tripartite motif-containing 64C"""				Standard	NM_001206631		Approved		uc021qiy.1	A6NLI5	OTTHUMG00000166752	ENST00000530230.1:c.715G>A	11.37:g.49078714C>T	ENSP00000431987:p.Val239Met	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING	p.V239M	ENST00000530230.1	37	c.715		11	.	.	.	.	.	.	.	.	.	.	C	3.643	-0.073131	0.07228	.	.	ENSG00000214891	ENST00000530230	T	0.08634	3.07	1.55	-2.39	0.06602	.	.	.	.	.	T	0.07638	0.0192	L	0.47016	1.485	0.09310	N	1	.	.	.	.	.	.	T	0.42515	-0.9447	7	0.18710	T	0.47	.	5.5263	0.16960	0.0:0.3859:0.0:0.6141	.	.	.	.	M	239	ENSP00000431987:V239M	ENSP00000431987:V239M	V	-	1	0	TRIM64C	49035290	0.000000	0.05858	0.025000	0.17156	0.476000	0.33039	-2.356000	0.01087	-0.727000	0.04888	0.184000	0.17185	GTG	TRIM64C	-	NULL		0.493	TRIM64C-001	KNOWN	basic|appris_principal	protein_coding	TRIM64C	HGNC	protein_coding	OTTHUMT00000391366.1	C			49078714	-1	no_errors	ENST00000530230	ensembl	human	known	70_37	missense	SNP	0.032	T
TRPA1	8989	genome.wustl.edu	37	8	72936146	72936146	+	Splice_Site	SNP	G	G	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr8:72936146G>A	ENST00000262209.4	-	26	3259	c.3052C>T	c.(3052-3054)Cat>Tat	p.H1018Y	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	1018			H -> R (in dbSNP:rs959976).		calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CAGAATATATGCTGTCGGATA	0.313																																																	0													57.0	65.0	62.0					8																	72936146		2198	4289	6487	SO:0001630	splice_region_variant	8989			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.3052-1C>T	8.37:g.72936146G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIN6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.H1018Y	ENST00000262209.4	37	c.3052	CCDS34908.1	8	.	.	.	.	.	.	.	.	.	.	G	0.098	-1.156510	0.01686	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.42131	0.98;1.1	5.93	-5.75	0.02384	.	0.996761	0.08138	N	0.992056	T	0.14356	0.0347	N	0.14661	0.345	0.09310	N	1	B	0.29232	0.238	B	0.25614	0.062	T	0.29852	-0.9998	10	0.02654	T	1	0.2363	1.7636	0.02997	0.4208:0.2739:0.1173:0.188	.	1018	O75762	TRPA1_HUMAN	Y	870;1018	ENSP00000428151:H870Y;ENSP00000262209:H1018Y	ENSP00000262209:H1018Y	H	-	1	0	TRPA1	73098700	0.008000	0.16893	0.000000	0.03702	0.001000	0.01503	-0.140000	0.10342	-0.842000	0.04195	-0.169000	0.13324	CAT	TRPA1	-	NULL		0.313	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPA1	HGNC	protein_coding	OTTHUMT00000379079.2	G	NM_007332	Missense_Mutation	72936146	-1	no_errors	ENST00000262209	ensembl	human	known	70_37	missense	SNP	0.000	A
TRPA1	8989	genome.wustl.edu	37	8	72936146	72936146	+	Splice_Site	SNP	G	G	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr8:72936146G>A	ENST00000262209.4	-	26	3259	c.3052C>T	c.(3052-3054)Cat>Tat	p.H1018Y	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	1018			H -> R (in dbSNP:rs959976).		calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CAGAATATATGCTGTCGGATA	0.313																																																	0													57.0	65.0	62.0					8																	72936146		2198	4289	6487	SO:0001630	splice_region_variant	8989			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.3052-1C>T	8.37:g.72936146G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIN6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.H1018Y	ENST00000262209.4	37	c.3052	CCDS34908.1	8	.	.	.	.	.	.	.	.	.	.	G	0.098	-1.156510	0.01686	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.42131	0.98;1.1	5.93	-5.75	0.02384	.	0.996761	0.08138	N	0.992056	T	0.14356	0.0347	N	0.14661	0.345	0.09310	N	1	B	0.29232	0.238	B	0.25614	0.062	T	0.29852	-0.9998	10	0.02654	T	1	0.2363	1.7636	0.02997	0.4208:0.2739:0.1173:0.188	.	1018	O75762	TRPA1_HUMAN	Y	870;1018	ENSP00000428151:H870Y;ENSP00000262209:H1018Y	ENSP00000262209:H1018Y	H	-	1	0	TRPA1	73098700	0.008000	0.16893	0.000000	0.03702	0.001000	0.01503	-0.140000	0.10342	-0.842000	0.04195	-0.169000	0.13324	CAT	TRPA1	-	NULL		0.313	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPA1	HGNC	protein_coding	OTTHUMT00000379079.2	G	NM_007332	Missense_Mutation	72936146	-1	no_errors	ENST00000262209	ensembl	human	known	70_37	missense	SNP	0.000	A
TTN	7273	genome.wustl.edu	37	2	179612941	179612941	+	Intron	SNP	T	T	C			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr2:179612941T>C	ENST00000591111.1	-	45	10585				TTN_ENST00000360870.5_Missense_Mutation_p.Y4729C|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATTCACTATAGATTTCTTC	0.348																																																	0													56.0	58.0	58.0					2																	179612941		2201	4294	6495	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+4909A>G	2.37:g.179612941T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Y4729C	ENST00000591111.1	37	c.14186		2	.	.	.	.	.	.	.	.	.	.	T	15.67	2.901741	0.52227	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.57107	0.42	6.05	1.07	0.20283	.	.	.	.	.	T	0.34716	0.0907	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22382	-1.0218	9	0.51188	T	0.08	.	5.9878	0.19444	0.0:0.2892:0.1651:0.5458	.	4729	Q8WZ42-6	.	C	4729;43	ENSP00000354117:Y4729C	ENSP00000304714:Y43C	Y	-	2	0	TTN	179321186	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	0.253000	0.18296	-0.035000	0.13691	0.528000	0.53228	TAT	TTN	-	NULL		0.348	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	T	NM_133378		179612941	-1	no_errors	ENST00000360870	ensembl	human	known	70_37	missense	SNP	0.000	C
TTN	7273	genome.wustl.edu	37	2	179612941	179612941	+	Intron	SNP	T	T	C			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr2:179612941T>C	ENST00000591111.1	-	45	10585				TTN_ENST00000360870.5_Missense_Mutation_p.Y4729C|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATTCACTATAGATTTCTTC	0.348																																																	0													56.0	58.0	58.0					2																	179612941		2201	4294	6495	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+4909A>G	2.37:g.179612941T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Y4729C	ENST00000591111.1	37	c.14186		2	.	.	.	.	.	.	.	.	.	.	T	15.67	2.901741	0.52227	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.57107	0.42	6.05	1.07	0.20283	.	.	.	.	.	T	0.34716	0.0907	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22382	-1.0218	9	0.51188	T	0.08	.	5.9878	0.19444	0.0:0.2892:0.1651:0.5458	.	4729	Q8WZ42-6	.	C	4729;43	ENSP00000354117:Y4729C	ENSP00000304714:Y43C	Y	-	2	0	TTN	179321186	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	0.253000	0.18296	-0.035000	0.13691	0.528000	0.53228	TAT	TTN	-	NULL		0.348	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	T	NM_133378		179612941	-1	no_errors	ENST00000360870	ensembl	human	known	70_37	missense	SNP	0.000	C
UNC80	285175	genome.wustl.edu	37	2	210761093	210761093	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr2:210761093G>T	ENST00000439458.1	+	27	4419	c.4339G>T	c.(4339-4341)Gcc>Tcc	p.A1447S	UNC80_ENST00000272845.6_Missense_Mutation_p.A1442S	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	1447					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						AATGAGTAATGCCGGCGCGGA	0.483																																																	0													136.0	130.0	132.0					2																	210761093		692	1591	2283	SO:0001583	missense	285175			AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.4339G>T	2.37:g.210761093G>T	ENSP00000391088:p.Ala1447Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	NULL	p.A1447S	ENST00000439458.1	37	c.4339	CCDS46504.1	2	.	.	.	.	.	.	.	.	.	.	G	4.024	0.001874	0.07819	.	.	ENSG00000144406	ENST00000439458;ENST00000272845	T;T	0.26067	1.76;1.76	5.9	4.92	0.64577	.	0.316290	0.34986	N	0.003526	T	0.06050	0.0157	N	0.01048	-1.04	0.39125	D	0.961748	B	0.15473	0.013	B	0.19391	0.025	T	0.40794	-0.9544	10	0.02654	T	1	-6.1389	3.9183	0.09233	0.3186:0.0:0.6814:0.0	.	1447	Q8N2C7	UNC80_HUMAN	S	1447;1442	ENSP00000391088:A1447S;ENSP00000272845:A1442S	ENSP00000272845:A1442S	A	+	1	0	UNC80	210469338	0.894000	0.30519	0.987000	0.45799	0.780000	0.44128	3.184000	0.50926	2.806000	0.96561	0.655000	0.94253	GCC	UNC80	-	NULL		0.483	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC80	HGNC	protein_coding		G	NM_182587		210761093	+1	no_errors	ENST00000439458	ensembl	human	known	70_37	missense	SNP	0.356	T
UNKL	64718	genome.wustl.edu	37	16	1420157	1420157	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr16:1420157G>C	ENST00000389221.4	-	12	1549	c.1550C>G	c.(1549-1551)tCt>tGt	p.S517C	UNKL_ENST00000397464.1_Missense_Mutation_p.S19C|UNKL_ENST00000403703.1_Missense_Mutation_p.S19C|UNKL_ENST00000248104.7_5'UTR|UNKL_ENST00000508903.2_Missense_Mutation_p.S520C|UNKL_ENST00000402641.2_Missense_Mutation_p.S19C|UNKL_ENST00000391893.2_5'Flank	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	517	Ser-rich.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				TGAGGCTGCAGAGCCCAGTGT	0.701																																																	0													18.0	23.0	21.0					16																	1420157		1809	3410	5219	SO:0001583	missense	64718			BC011924	CCDS32359.1, CCDS53980.1, CCDS61787.1	16p13.3	2014-03-10	2013-10-17		ENSG00000059145	ENSG00000059145		"""Zinc fingers, CCCH-type domain containing"""	14184	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 28"", ""unkempt homolog (Drosophila)-like"""	C16orf28		20148946	Standard	NM_001193389		Approved	ZC3HDC5L, ZC3H5L, FLJ23360	uc031qup.1	Q9H9P5	OTTHUMG00000128553	ENST00000389221.4:c.1550C>G	16.37:g.1420157G>C	ENSP00000373873:p.Ser517Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B0QYN6|B1GXI8|Q96EV1|Q96RZ1|Q9BWL5|Q9H5K0|Q9UJJ8	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH,pfscan_Znf_RING	p.S517C	ENST00000389221.4	37	c.1550	CCDS53981.1	16	.	.	.	.	.	.	.	.	.	.	g	14.59	2.580107	0.46006	.	.	ENSG00000059145	ENST00000389221;ENST00000403703;ENST00000397464;ENST00000402641;ENST00000508903;ENST00000513783	T;T	0.65364	-0.15;-0.15	4.73	4.73	0.59995	.	.	.	.	.	T	0.52092	0.1713	N	0.08118	0	0.80722	D	1	D;P	0.60575	0.988;0.947	P;B	0.50231	0.635;0.436	T	0.62455	-0.6851	9	0.62326	D	0.03	.	15.611	0.76716	0.0:0.0:1.0:0.0	.	517;520	Q9H9P5;E9PDK2	UNKL_HUMAN;.	C	517;19;19;19;520;19	ENSP00000373873:S517C;ENSP00000380606:S19C	ENSP00000373873:S517C	S	-	2	0	UNKL	1360158	1.000000	0.71417	0.900000	0.35374	0.025000	0.11179	7.980000	0.88113	2.349000	0.79799	0.537000	0.68136	TCT	UNKL	-	NULL		0.701	UNKL-201	KNOWN	basic|CCDS	protein_coding	UNKL	HGNC	protein_coding		G	NM_001037125		1420157	-1	no_errors	ENST00000389221	ensembl	human	known	70_37	missense	SNP	0.998	C
USP43	124739	genome.wustl.edu	37	17	9590226	9590226	+	Splice_Site	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr17:9590226G>T	ENST00000285199.7	+	8	1449	c.1353G>T	c.(1351-1353)caG>caT	p.Q451H	USP43_ENST00000570827.2_3'UTR|USP43_ENST00000570475.1_Splice_Site_p.Q451H	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	451	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CCCCTGTACAGGTCAGTGgtg	0.557																																																	0													52.0	51.0	52.0					17																	9590226		2065	4200	6265	SO:0001630	splice_region_variant	124739			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.1353+1G>T	17.37:g.9590226G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.Q451H	ENST00000285199.7	37	c.1353	CCDS45610.1	17	.	.	.	.	.	.	.	.	.	.	G	26.2	4.715268	0.89112	.	.	ENSG00000154914	ENST00000285199	T	0.11169	2.8	5.36	5.36	0.76844	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.353120	0.26800	N	0.022431	T	0.14960	0.0361	N	0.25890	0.77	0.58432	D	0.99999	P;P;P	0.45715	0.818;0.865;0.541	P;P;P	0.49953	0.627;0.593;0.463	T	0.01004	-1.1484	10	0.46703	T	0.11	-27.7161	16.6254	0.84969	0.0:0.0:1.0:0.0	.	451;140;451	B7ZVX5;Q70EL4-3;Q70EL4	.;.;UBP43_HUMAN	H	451	ENSP00000285199:Q451H	ENSP00000285199:Q451H	Q	+	3	2	USP43	9530951	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.444000	0.66587	2.788000	0.95919	0.650000	0.86243	CAG	USP43	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.557	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP43	HGNC	protein_coding	OTTHUMT00000439855.3	G	NM_153210	Missense_Mutation	9590226	+1	no_errors	ENST00000285199	ensembl	human	known	70_37	missense	SNP	1.000	T
USPL1	10208	genome.wustl.edu	37	13	31232650	31232650	+	Silent	SNP	C	C	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr13:31232650C>A	ENST00000255304.4	+	9	2778	c.2436C>A	c.(2434-2436)tcC>tcA	p.S812S		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	812					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GCCACGTATCCAAGAAAGCTC	0.453																																					Ovarian(60;318 1180 1554 28110 31601)												0													53.0	53.0	53.0					13																	31232650		2203	4300	6503	SO:0001819	synonymous_variant	10208			X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.2436C>A	13.37:g.31232650C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14109|Q6AI45|Q8IY30|Q8IYE8	Silent	SNP	pfscan_Peptidase_C19	p.S812	ENST00000255304.4	37	c.2436	CCDS9336.1	13																																																																																			USPL1	-	NULL		0.453	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USPL1	HGNC	protein_coding	OTTHUMT00000044369.1	C	NM_005800		31232650	+1	no_errors	ENST00000255304	ensembl	human	known	70_37	silent	SNP	0.050	A
VARS2	57176	genome.wustl.edu	37	6	30882090	30882090	+	5'UTR	SNP	G	G	C			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr6:30882090G>C	ENST00000321897.5	+	0	109				VARS2_ENST00000541562.1_5'Flank|VARS2_ENST00000542001.1_5'UTR|VARS2_ENST00000416670.2_5'UTR			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial						gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CTGCCGCCGCGGGGCGCCCTG	0.776																																																	0																																										SO:0001623	5_prime_UTR_variant	57176			AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.-524G>C	6.37:g.30882090G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	RNA	SNP	-	NULL	ENST00000321897.5	37	NULL	CCDS34387.1	6																																																																																			VARS2	-	-		0.776	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VARS2	HGNC	protein_coding	OTTHUMT00000076566.2	G	NM_020442		30882090	+1	no_errors	ENST00000467717	ensembl	human	known	70_37	rna	SNP	0.314	C
VPS8	23355	genome.wustl.edu	37	3	184769794	184769794	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr3:184769794C>A	ENST00000437079.3	+	48	4439	c.4268C>A	c.(4267-4269)cCa>cAa	p.P1423Q	VPS8_ENST00000436792.2_Missense_Mutation_p.P1421Q|VPS8_ENST00000287546.4_Missense_Mutation_p.P1423Q|VPS8_ENST00000446204.2_Missense_Mutation_p.P1331Q	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1423							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			CTCATTCCTCCACCTGTGACT	0.587																																																	0													43.0	45.0	45.0					3																	184769794		2002	4187	6189	SO:0001583	missense	23355			AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.4268C>A	3.37:g.184769794C>A	ENSP00000397879:p.Pro1423Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P1423Q	ENST00000437079.3	37	c.4268	CCDS46971.1	3	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302775	0.81136	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.37411	1.21;1.2;1.2;1.21	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.50616	0.1626	L	0.34521	1.04	0.53688	D	0.999973	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.963;0.992;0.984	T	0.50118	-0.8865	10	0.87932	D	0	-16.7674	16.9217	0.86166	0.0:1.0:0.0:0.0	.	1423;1331;1421	Q8N3P4;Q8N3P4-2;Q8N3P4-3	VPS8_HUMAN;.;.	Q	1423;1423;1421;1331	ENSP00000287546:P1423Q;ENSP00000397879:P1423Q;ENSP00000404704:P1421Q;ENSP00000405483:P1331Q	ENSP00000287546:P1423Q	P	+	2	0	VPS8	186252488	0.979000	0.34478	0.700000	0.30305	0.947000	0.59692	4.306000	0.59117	2.803000	0.96430	0.585000	0.79938	CCA	VPS8	-	NULL		0.587	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS8	HGNC	protein_coding		C	NM_015303		184769794	+1	no_errors	ENST00000287546	ensembl	human	known	70_37	missense	SNP	0.959	A
WDR87	83889	genome.wustl.edu	37	19	38386878	38386878	+	Intron	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr19:38386878G>T	ENST00000303868.5	-	3	354				WDR87_ENST00000447313.2_Missense_Mutation_p.S49Y	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87											NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						AGGATAGCGAGACTCTTTGAA	0.478																																																	0													114.0	96.0	102.0					19																	38386878		692	1591	2283	SO:0001627	intron_variant	83889			AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.129+16C>A	19.37:g.38386878G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BWV9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S49Y	ENST00000303868.5	37	c.146	CCDS46063.1	19	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016863	0.54576	.	.	ENSG00000171804	ENST00000447313	T	0.77358	-1.09	5.52	3.31	0.37934	.	.	.	.	.	D	0.83774	0.5327	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.68765	0.96	T	0.83225	-0.0066	8	0.59425	D	0.04	.	7.5827	0.27974	0.0:0.192:0.6335:0.1745	.	49	E7ESW6	.	Y	49	ENSP00000405012:S49Y	ENSP00000405012:S49Y	S	-	2	0	WDR87	43078718	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	1.913000	0.39956	2.589000	0.87451	0.643000	0.83706	TCT	WDR87	-	NULL		0.478	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR87	HGNC	protein_coding	OTTHUMT00000314628.2	G	XM_940478		38386878	-1	no_errors	ENST00000447313	ensembl	human	known	70_37	missense	SNP	1.000	T
WNT7B	7477	genome.wustl.edu	37	22	46372605	46372605	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr22:46372605G>T	ENST00000339464.4	-	1	404	c.30C>A	c.(28-30)ttC>ttA	p.F10L	CR536603.1_ENST00000578136.1_RNA|WNT7B_ENST00000410089.1_5'Flank|WNT7B_ENST00000410058.1_Missense_Mutation_p.F10L	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	10					activation of JUN kinase activity (GO:0007257)|anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular metabolic process (GO:0044237)|cellular response to retinoic acid (GO:0071300)|central nervous system vasculogenesis (GO:0022009)|chorio-allantoic fusion (GO:0060710)|developmental growth involved in morphogenesis (GO:0060560)|embryonic organ development (GO:0048568)|embryonic placenta morphogenesis (GO:0060669)|establishment or maintenance of polarity of embryonic epithelium (GO:0016332)|fibroblast proliferation (GO:0048144)|forebrain regionalization (GO:0021871)|homeostatic process (GO:0042592)|in utero embryonic development (GO:0001701)|inner medullary collecting duct development (GO:0072061)|lens fiber cell development (GO:0070307)|lobar bronchus development (GO:0060482)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung morphogenesis (GO:0060425)|lung-associated mesenchyme development (GO:0060484)|mammary gland epithelium development (GO:0061180)|metanephric collecting duct development (GO:0072205)|metanephric epithelium development (GO:0072207)|metanephric loop of Henle development (GO:0072236)|metanephros morphogenesis (GO:0003338)|negative regulation of smoothened signaling pathway (GO:0045879)|neuron differentiation (GO:0030182)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|outer medullary collecting duct development (GO:0072060)|oxygen homeostasis (GO:0032364)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of cell projection size (GO:0032536)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|response to glucocorticoid (GO:0051384)|smooth muscle cell differentiation (GO:0051145)|stem cell proliferation (GO:0072089)|synapse organization (GO:0050808)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		GAAACACGTAGAAAATCCACT	0.662																																																	0													46.0	40.0	42.0					22																	46372605		2202	4299	6501	SO:0001583	missense	7477			AF416743	CCDS33667.1	22q13	2013-02-28			ENSG00000188064	ENSG00000188064		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12787	protein-coding gene	gene with protein product		601967				8168088, 9284940, 11562755	Standard	NM_058238		Approved		uc003bgo.2	P56706	OTTHUMG00000154636	ENST00000339464.4:c.30C>A	22.37:g.46372605G>T	ENSP00000341032:p.Phe10Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B8A596|Q96Q12	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7	p.F10L	ENST00000339464.4	37	c.30	CCDS33667.1	22	.	.	.	.	.	.	.	.	.	.	g	0.945	-0.708414	0.03230	.	.	ENSG00000188064	ENST00000339464;ENST00000410058	T;D	0.84370	-0.91;-1.84	3.21	0.788	0.18601	.	0.766735	0.10909	N	0.620764	T	0.66557	0.2801	N	0.14661	0.345	0.22745	N	0.99878	B	0.02656	0.0	B	0.01281	0.0	T	0.50338	-0.8840	10	0.08599	T	0.76	.	4.7828	0.13210	0.1308:0.2232:0.6459:0.0	.	10	P56706	WNT7B_HUMAN	L	10	ENSP00000341032:F10L;ENSP00000387217:F10L	ENSP00000341032:F10L	F	-	3	2	WNT7B	44751269	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	1.861000	0.39438	0.323000	0.23307	0.479000	0.44913	TTC	WNT7B	-	NULL		0.662	WNT7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT7B	HGNC	protein_coding	OTTHUMT00000336418.1	G	NM_058238		46372605	-1	no_errors	ENST00000339464	ensembl	human	known	70_37	missense	SNP	1.000	T
ZCCHC2	54877	genome.wustl.edu	37	18	60191315	60191315	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr18:60191315G>A	ENST00000269499.5	+	1	1076	c.658G>A	c.(658-660)Gag>Aag	p.E220K		NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	220						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						cgcggAGGACGAGCGCGGCGA	0.771																																																	0													5.0	7.0	6.0					18																	60191315		668	1530	2198	SO:0001583	missense	54877			AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"""Zinc fingers, CCHC domain containing"""	22916	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 49"""	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.658G>A	18.37:g.60191315G>A	ENSP00000269499:p.Glu220Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RPG6|Q8N3S1|Q9NXF6	Missense_Mutation	SNP	pfam_Znf_CCHC,superfamily_Phox,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.E220K	ENST00000269499.5	37	c.658	CCDS45880.1	18	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843281	0.71488	.	.	ENSG00000141664	ENST00000269499	T	0.03745	3.82	3.38	0.157	0.14915	.	.	.	.	.	T	0.02848	0.0085	L	0.36672	1.1	0.80722	D	1	B	0.29612	0.251	B	0.12837	0.008	T	0.51132	-0.8744	9	0.42905	T	0.14	.	6.8019	0.23756	0.0981:0.3378:0.5641:0.0	.	220	Q9C0B9	ZCHC2_HUMAN	K	220	ENSP00000269499:E220K	ENSP00000269499:E220K	E	+	1	0	ZCCHC2	58342295	0.759000	0.28416	0.995000	0.50966	0.994000	0.84299	2.059000	0.41384	0.134000	0.18681	0.478000	0.44815	GAG	ZCCHC2	-	NULL		0.771	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	ZCCHC2	HGNC	protein_coding	OTTHUMT00000450083.1	G	NM_017742		60191315	+1	no_errors	ENST00000269499	ensembl	human	known	70_37	missense	SNP	0.986	A
ZDHHC11	79844	genome.wustl.edu	37	5	711855	711856	+	Intron	INS	-	-	TA			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr5:711855_711856insTA	ENST00000424784.2	-	14	1931				ZDHHC11B_ENST00000522356.1_5'UTR			Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CCATTTCCCAGCACTGTGCTCC	0.505																																																	0																																										SO:0001627	intron_variant	653082			AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000424784.2:c.1237-856->TA	5.37:g.711855_711856insTA		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UWR9	RNA	INS	-	NULL	ENST00000424784.2	37	NULL	CCDS3857.1	5																																																																																			ZDHHC11B	-	-		0.505	ZDHHC11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC11B	HGNC	protein_coding		-	NM_024786		711856	-1	no_errors	ENST00000522356	ensembl	human	known	70_37	rna	INS	0.055:0.021	TA
ZFR	51663	genome.wustl.edu	37	5	32355732	32355732	+	3'UTR	SNP	C	C	G			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr5:32355732C>G	ENST00000265069.8	-	0	3461				ZFR_ENST00000510369.1_5'UTR	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein						multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TTTTTAATATCATAGAAAAAC	0.303																																																	0																																										SO:0001624	3_prime_UTR_variant	51663			AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.*134G>C	5.37:g.32355732C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	RNA	SNP	-	NULL	ENST00000265069.8	37	NULL	CCDS34139.1	5																																																																																			ZFR	-	-		0.303	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFR	HGNC	protein_coding	OTTHUMT00000366586.1	C			32355732	-1	no_errors	ENST00000510369	ensembl	human	known	70_37	rna	SNP	0.994	G
ZFYVE26	23503	genome.wustl.edu	37	14	68265155	68265155	+	Silent	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr14:68265155C>T	ENST00000347230.4	-	11	1962	c.1824G>A	c.(1822-1824)aaG>aaA	p.K608K	ZFYVE26_ENST00000555452.1_Silent_p.K608K	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	608					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTGAGGGGCTCTTCCCCTCAA	0.527																																																	0													75.0	69.0	71.0					14																	68265155		2203	4300	6503	SO:0001819	synonymous_variant	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.1824G>A	14.37:g.68265155C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.K608	ENST00000347230.4	37	c.1824	CCDS9788.1	14																																																																																			ZFYVE26	-	NULL		0.527	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE26	HGNC	protein_coding	OTTHUMT00000412736.2	C	NM_015346		68265155	-1	no_errors	ENST00000347230	ensembl	human	known	70_37	silent	SNP	0.001	T
ZFYVE26	23503	genome.wustl.edu	37	14	68265155	68265155	+	Silent	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr14:68265155C>T	ENST00000347230.4	-	11	1962	c.1824G>A	c.(1822-1824)aaG>aaA	p.K608K	ZFYVE26_ENST00000555452.1_Silent_p.K608K	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	608					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTGAGGGGCTCTTCCCCTCAA	0.527																																																	0													75.0	69.0	71.0					14																	68265155		2203	4300	6503	SO:0001819	synonymous_variant	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.1824G>A	14.37:g.68265155C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.K608	ENST00000347230.4	37	c.1824	CCDS9788.1	14																																																																																			ZFYVE26	-	NULL		0.527	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE26	HGNC	protein_coding	OTTHUMT00000412736.2	C	NM_015346		68265155	-1	no_errors	ENST00000347230	ensembl	human	known	70_37	silent	SNP	0.001	T
ZNF25	219749	genome.wustl.edu	37	10	38265469	38265469	+	5'UTR	SNP	G	G	C	rs144205159	byFrequency	TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr10:38265469G>C	ENST00000302609.7	-	0	92				ZNF25_ENST00000374633.1_5'UTR|RP11-393J16.4_ENST00000412789.1_lincRNA	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				ggcccgcgccgggcccaggcc	0.706																																																	0																																										SO:0001623	5_prime_UTR_variant	219749			AK056452	CCDS7195.1	10p11.2	2013-01-08	2006-05-10		ENSG00000175395	ENSG00000175395		"""Zinc fingers, C2H2-type"", ""-"""	13043	protein-coding gene	gene with protein product		194528	"""zinc finger protein 25 (KOX 19)"""			1639412, 8464732	Standard	NM_145011		Approved	KOX19, FLJ31890, Zfp9	uc001ize.1	P17030	OTTHUMG00000019344	ENST00000302609.7:c.-121C>G	10.37:g.38265469G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A9Z1X5|Q8IYE3|Q8NDD6|Q96MU2	RNA	SNP	-	NULL	ENST00000302609.7	37	NULL	CCDS7195.1	10																																																																																			ZNF25	-	-		0.706	ZNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF25	HGNC	protein_coding	OTTHUMT00000051214.1	G	NM_145011, NM_006966		38265469	-1	no_errors	ENST00000467975	ensembl	human	known	70_37	rna	SNP	0.000	C
ZNF283	284349	genome.wustl.edu	37	19	44351765	44351765	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr19:44351765G>C	ENST00000324461.7	+	7	1309	c.1012G>C	c.(1012-1014)Gag>Cag	p.E338Q	ZNF283_ENST00000588797.1_Missense_Mutation_p.E199Q	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TGCTAAACATGAGATAATTCA	0.398																																																	0													52.0	60.0	57.0					19																	44351765		2151	4274	6425	SO:0001583	missense	284349			AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"""Zinc fingers, C2H2-type"", ""-"""	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.1012G>C	19.37:g.44351765G>C	ENSP00000327314:p.Glu338Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E338Q	ENST00000324461.7	37	c.1012	CCDS46097.1	19	.	.	.	.	.	.	.	.	.	.	C	0.203	-1.042981	0.01997	.	.	ENSG00000167637	ENST00000324461	T	0.51817	0.69	3.0	1.82	0.25136	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22589	0.0545	N	0.12611	0.24	0.80722	D	1	B	0.21905	0.062	B	0.23716	0.048	T	0.14090	-1.0485	9	0.02654	T	1	.	8.2222	0.31547	0.0:0.4077:0.5923:0.0	.	338	Q8N7M2	ZN283_HUMAN	Q	338	ENSP00000327314:E338Q	ENSP00000327314:E338Q	E	+	1	0	ZNF283	49043605	0.000000	0.05858	0.998000	0.56505	0.988000	0.76386	-0.289000	0.08365	1.690000	0.51089	0.563000	0.77884	GAG	ZNF283	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF283	HGNC	protein_coding	OTTHUMT00000459909.1	G	NM_181845		44351765	+1	no_errors	ENST00000324461	ensembl	human	known	70_37	missense	SNP	0.994	C
ZNF283	284349	genome.wustl.edu	37	19	44351765	44351765	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr19:44351765G>C	ENST00000324461.7	+	7	1309	c.1012G>C	c.(1012-1014)Gag>Cag	p.E338Q	ZNF283_ENST00000588797.1_Missense_Mutation_p.E199Q	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TGCTAAACATGAGATAATTCA	0.398																																																	0													52.0	60.0	57.0					19																	44351765		2151	4274	6425	SO:0001583	missense	284349			AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"""Zinc fingers, C2H2-type"", ""-"""	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.1012G>C	19.37:g.44351765G>C	ENSP00000327314:p.Glu338Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E338Q	ENST00000324461.7	37	c.1012	CCDS46097.1	19	.	.	.	.	.	.	.	.	.	.	C	0.203	-1.042981	0.01997	.	.	ENSG00000167637	ENST00000324461	T	0.51817	0.69	3.0	1.82	0.25136	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22589	0.0545	N	0.12611	0.24	0.80722	D	1	B	0.21905	0.062	B	0.23716	0.048	T	0.14090	-1.0485	9	0.02654	T	1	.	8.2222	0.31547	0.0:0.4077:0.5923:0.0	.	338	Q8N7M2	ZN283_HUMAN	Q	338	ENSP00000327314:E338Q	ENSP00000327314:E338Q	E	+	1	0	ZNF283	49043605	0.000000	0.05858	0.998000	0.56505	0.988000	0.76386	-0.289000	0.08365	1.690000	0.51089	0.563000	0.77884	GAG	ZNF283	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF283	HGNC	protein_coding	OTTHUMT00000459909.1	G	NM_181845		44351765	+1	no_errors	ENST00000324461	ensembl	human	known	70_37	missense	SNP	0.994	C
ZNF32-AS3	414201	genome.wustl.edu	37	10	44169892	44169892	+	RNA	SNP	C	C	G			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr10:44169892C>G	ENST00000458063.1	+	0	1673					NR_038867.1				ZNF32 antisense RNA 3																		ACTTATTCCTCTTCAGAAACA	0.299																																																	0																																												414201			BC033403		10q11.21	2012-10-12	2012-08-15	2011-09-16	ENSG00000223910	ENSG00000223910		"""Long non-coding RNAs"""	23583	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 44"", ""ZNF32 antisense RNA 3 (non-protein coding)"""	C10orf44			Standard	NR_038867		Approved	bA402L1.3	uc001jba.2		OTTHUMG00000018037		10.37:g.44169892C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000458063.1	37	NULL		10																																																																																			ZNF32-AS3	-	-		0.299	ZNF32-AS3-001	KNOWN	basic	processed_transcript	ZNF32-AS3	HGNC	processed_transcript	OTTHUMT00000047716.1	C			44169892	+1	no_errors	ENST00000458063	ensembl	human	known	70_37	rna	SNP	0.010	G
ZNF346	23567	genome.wustl.edu	37	5	176478759	176478759	+	Intron	SNP	C	C	T			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr5:176478759C>T	ENST00000358149.3	+	5	746				ZNF346_ENST00000511834.1_Intron|ZNF346-IT1_ENST00000515264.1_RNA|ZNF346_ENST00000506693.1_Intron|ZNF346_ENST00000512315.1_Intron|ZNF346_ENST00000261948.4_Intron|ZNF346_ENST00000503425.1_Intron|ZNF346_ENST00000503039.1_Intron	NM_012279.2	NP_036411.1	Q9UL40	ZN346_HUMAN	zinc finger protein 346						positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			aggatggtctcgatttcctga	0.537																																																	0																																										SO:0001627	intron_variant	0			AF083340	CCDS4409.1	5q35.3	2012-10-05			ENSG00000113761	ENSG00000113761			16403	protein-coding gene	gene with protein product		605308				10488071	Standard	NM_012279		Approved	JAZ, Zfp346	uc003mfi.3	Q9UL40	OTTHUMG00000130848	ENST00000358149.3:c.703+822C>T	5.37:g.176478759C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z367|Q68CV9|Q6ZMW1	RNA	SNP	-	NULL	ENST00000358149.3	37	NULL	CCDS4409.1	5																																																																																			ZNF346-IT1	-	-		0.537	ZNF346-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF346-IT1	HGNC	protein_coding	OTTHUMT00000253415.2	C	NM_012279		176478759	+1	no_errors	ENST00000515264	ensembl	human	known	70_37	rna	SNP	0.012	T
ZNF595	152687	genome.wustl.edu	37	4	85996	85997	+	3'UTR	INS	-	-	C			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr4:85996_85997insC	ENST00000339368.6	+	0	805_806							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		GAAACCCTACAATGTGAAAAAT	0.406																																																	0										3582,324		1641,300,12						-0.1	0.1		dbSNP_129	12	7311,695		3331,649,23	no	frameshift	ZNF595	NM_182524.2		4972,949,35	A1A1,A1R,RR		8.681,8.2949,8.5544				10893,1019				SO:0001624	3_prime_UTR_variant	152687			BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*803->C	4.37:g.85996_85997insC		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	INS	-	NULL	ENST00000339368.6	37	NULL		4																																																																																			ZNF595	-	-		0.406	ZNF595-001	KNOWN	basic	processed_transcript	ZNF595	HGNC	protein_coding	OTTHUMT00000357814.2	-	NM_182524		85997	+1	no_errors	ENST00000339368	ensembl	human	known	70_37	rna	INS	0.001:0.009	C
ZNF865	100507290	genome.wustl.edu	37	19	56125592	56125592	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr19:56125592G>A	ENST00000568956.1	+	2	962	c.608G>A	c.(607-609)tGc>tAc	p.C203Y		NM_001195605.1	NP_001182534.1	P0CJ78	ZN865_HUMAN	zinc finger protein 865	203					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										GCGGCGGCCTGCGACCCCACC	0.736																																																	0																																										SO:0001583	missense	100507290				CCDS58681.1	19q13.42	2013-01-08			ENSG00000261221	ENSG00000261221		"""Zinc fingers, C2H2-type"""	38705	protein-coding gene	gene with protein product							Standard	NM_001195605		Approved		uc021vca.1	P0CJ78	OTTHUMG00000177108	ENST00000568956.1:c.608G>A	19.37:g.56125592G>A	ENSP00000457715:p.Cys203Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C203Y	ENST00000568956.1	37	c.608	CCDS58681.1	19																																																																																			ZNF865	-	NULL		0.736	ZNF865-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF865	HGNC	protein_coding	OTTHUMT00000435399.1	G	NM_001195605		56125592	+1	no_errors	ENST00000568956	ensembl	human	novel	70_37	missense	SNP	0.995	A
ZFAS1	441951	genome.wustl.edu	37	20	47905722	47905722	+	RNA	SNP	C	C	A			TCGA-C5-A1BF-01B-11D-A13W-08	TCGA-C5-A1BF-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787570f6-4956-48af-afef-71adc28e3e31	e3adbb90-3051-438b-b7fd-7deab3f1cf03	g.chr20:47905722C>A	ENST00000450535.1	+	0	1000				ZFAS1_ENST00000326677.5_RNA|ZFAS1_ENST00000371743.3_RNA|ZFAS1_ENST00000428008.1_RNA|ZFAS1_ENST00000458653.1_RNA|ZFAS1_ENST00000417721.1_RNA|ZFAS1_ENST00000441722.1_RNA					ZNFX1 antisense RNA 1																		GTGCCCACTTCAAGAATGTCA	0.378																																																	0																																												441951			AY513722, AY513723		20q13.13	2014-02-21	2012-08-15	2013-02-06	ENSG00000177410	ENSG00000177410		"""Long non-coding RNAs"", ""-"""	33101	non-coding RNA	RNA, long non-coding			"""chromosome 20 open reading frame 199"", ""non-protein coding RNA 275"", ""ZNFX1 antisense RNA 1 (non-protein coding)"""	C20orf199, NCRNA00275, ZNFX1-AS1		21460236	Standard	NR_003605		Approved	HSUP1, HSUP2	uc002xul.4		OTTHUMG00000032698		20.37:g.47905722C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000450535.1	37	NULL		20																																																																																			ZNFX1-AS1	-	-		0.378	ZFAS1-007	KNOWN	basic	antisense	ZNFX1-AS1	HGNC	antisense	OTTHUMT00000127852.1	C	NR_003604		47905722	+1	no_errors	ENST00000326677	ensembl	human	known	70_37	rna	SNP	0.006	A
