#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ADAMTS16	170690	genome.wustl.edu	37	5	5232546	5232546	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr5:5232546G>T	ENST00000274181.7	+	12	1905	c.1767G>T	c.(1765-1767)tgG>tgT	p.W589C		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	589	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ATGGCCACTGGTCGGACTGGT	0.532																																						dbGAP											0													96.0	112.0	107.0					5																	5232546		2106	4228	6334	-	-	-	SO:0001583	missense	0			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1767G>T	5.37:g.5232546G>T	ENSP00000274181:p.Trp589Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	C6G490|Q8IVE2	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.W589C	ENST00000274181.7	37	c.1767	CCDS43299.1	5	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132114	0.77662	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.62788	0.0	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.88381	0.6421	H	0.99117	4.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.972;0.998	D	0.93305	0.6680	10	0.72032	D	0.01	.	17.4795	0.87669	0.0:0.0:1.0:0.0	.	589;589	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	C	589	ENSP00000274181:W589C	ENSP00000274181:W589C	W	+	3	0	ADAMTS16	5285546	1.000000	0.71417	0.998000	0.56505	0.784000	0.44337	9.379000	0.97198	2.418000	0.82041	0.491000	0.48974	TGG	ADAMTS16	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000145536		0.532	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	HGNC	protein_coding	OTTHUMT00000365657.1	127	0.00	0	G	NM_139056		5232546	5232546	+1	no_errors	ENST00000274181	ensembl	human	known	69_37n	missense	174	13.00	26	SNP	1.000	T
ANKRD26	22852	genome.wustl.edu	37	10	27326932	27326932	+	Silent	SNP	A	A	G			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr10:27326932A>G	ENST00000376087.4	-	22	2592	c.2427T>C	c.(2425-2427)taT>taC	p.Y809Y	ANKRD26_ENST00000436985.2_Silent_p.Y825Y|ANKRD26_ENST00000376070.3_Silent_p.Y366Y	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	808					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TAATTTTTTCATACAACGTAT	0.318																																						dbGAP											0													146.0	127.0	133.0					10																	27326932		1823	4073	5896	-	-	-	SO:0001819	synonymous_variant	0			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.2427T>C	10.37:g.27326932A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Silent	SNP	pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.Y825	ENST00000376087.4	37	c.2475	CCDS41499.1	10																																																																																			ANKRD26	-	NULL	ENSG00000107890		0.318	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD26	HGNC	protein_coding	OTTHUMT00000047296.1	180	0.00	0	A			27326932	27326932	-1	no_errors	ENST00000436985	ensembl	human	known	69_37n	silent	103	12.71	15	SNP	0.003	G
CATSPERB	79820	genome.wustl.edu	37	14	92047238	92047238	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr14:92047238C>G	ENST00000256343.3	-	27	3502	c.3346G>C	c.(3346-3348)Gag>Cag	p.E1116Q		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	1116					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TGTGTTCACTCTTCAGACTTT	0.333																																						dbGAP											0													136.0	129.0	131.0					14																	92047238		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.3346G>C	14.37:g.92047238C>G	ENSP00000256343:p.Glu1116Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV51	Missense_Mutation	SNP	superfamily_Neuraminidase	p.E1116Q	ENST00000256343.3	37	c.3346	CCDS32142.1	14	.	.	.	.	.	.	.	.	.	.	C	13.49	2.251431	0.39797	.	.	ENSG00000133962	ENST00000256343	T	0.48522	0.81	5.52	-9.83	0.00482	.	.	.	.	.	T	0.24812	0.0602	N	0.14661	0.345	0.09310	N	1	B	0.17268	0.021	B	0.14023	0.01	T	0.42716	-0.9435	9	0.87932	D	0	.	9.5302	0.39189	0.2044:0.6376:0.0655:0.0925	.	1116	Q9H7T0	CTSRB_HUMAN	Q	1116	ENSP00000256343:E1116Q	ENSP00000256343:E1116Q	E	-	1	0	CATSPERB	91116991	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.772000	0.01787	-1.047000	0.03242	-0.274000	0.10170	GAG	CATSPERB	-	NULL	ENSG00000133962		0.333	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPERB	HGNC	protein_coding	OTTHUMT00000411769.1	191	0.00	0	C	NM_024764		92047238	92047238	-1	no_errors	ENST00000256343	ensembl	human	known	69_37n	missense	110	14.73	19	SNP	0.000	G
CBL	867	genome.wustl.edu	37	11	119103160	119103160	+	Silent	SNP	G	G	T			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr11:119103160G>T	ENST00000264033.4	+	2	574	c.198G>T	c.(196-198)gtG>gtT	p.V66V		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	66	4H.|Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|Sufficient for interaction with EPHB1.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TGTTGCAGGTGGTGCGGTTGT	0.408			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													dbGAP		"""Dom, Rec"""	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	0													53.0	57.0	56.0					11																	119103160		2199	4295	6494	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.198G>T	11.37:g.119103160G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A3KMP8	Silent	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.V66	ENST00000264033.4	37	c.198	CCDS8418.1	11																																																																																			CBL	-	pfam_Adaptor_Cbl_N_hlx,superfamily_Adaptor_Cbl_N_hlx	ENSG00000110395		0.408	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBL	HGNC	protein_coding	OTTHUMT00000388219.4	90	0.00	0	G	NM_005188		119103160	119103160	+1	no_errors	ENST00000264033	ensembl	human	known	69_37n	silent	66	16.46	13	SNP	1.000	T
CCDC69	26112	genome.wustl.edu	37	5	150565026	150565026	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr5:150565026C>T	ENST00000355417.2	-	7	746	c.572G>A	c.(571-573)cGt>cAt	p.R191H	CCDC69_ENST00000521308.1_5'UTR	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	191										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCATGAATACGCTCATTCTT	0.557																																						dbGAP											0													167.0	151.0	156.0					5																	150565026		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4312.1	5q33.1	2008-02-05			ENSG00000198624	ENSG00000198624			24487	protein-coding gene	gene with protein product						12477932	Standard	NM_015621		Approved	FLJ13705, DKFZP434C171	uc011dcq.3	A6NI79	OTTHUMG00000130127	ENST00000355417.2:c.572G>A	5.37:g.150565026C>T	ENSP00000347586:p.Arg191His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9X6	Missense_Mutation	SNP	superfamily_ER_p29_C	p.R191H	ENST00000355417.2	37	c.572	CCDS4312.1	5	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714058	0.48622	.	.	ENSG00000198624	ENST00000355417	T	0.10960	2.82	4.92	4.05	0.47172	.	0.381355	0.22324	N	0.061546	T	0.08313	0.0207	N	0.21448	0.665	0.32186	N	0.579672	P	0.49559	0.925	B	0.43052	0.406	T	0.10613	-1.0622	10	0.41790	T	0.15	-8.049	9.2976	0.37824	0.0:0.828:0.0:0.172	.	191	A6NI79	CCD69_HUMAN	H	191	ENSP00000347586:R191H	ENSP00000347586:R191H	R	-	2	0	CCDC69	150545219	0.895000	0.30542	0.991000	0.47740	0.864000	0.49448	1.612000	0.36889	1.206000	0.43276	-0.379000	0.06801	CGT	CCDC69	-	superfamily_ER_p29_C	ENSG00000198624		0.557	CCDC69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC69	HGNC	protein_coding	OTTHUMT00000252435.1	87	0.00	0	C	NM_015621		150565026	150565026	-1	no_errors	ENST00000355417	ensembl	human	known	69_37n	missense	125	14.38	21	SNP	0.998	T
CTPS2	56474	genome.wustl.edu	37	X	16685675	16685675	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chrX:16685675C>T	ENST00000443824.1	-	13	2001	c.1258G>A	c.(1258-1260)Gat>Aat	p.D420N	CTPS2_ENST00000359276.4_Missense_Mutation_p.D420N|CTPS2_ENST00000380241.3_Missense_Mutation_p.D420N	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	420	Glutamine amidotransferase type-1. {ECO:0000255|PROSITE-ProRule:PRU00605}.				'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					TCTGTGGAATCAGCATCTGAA	0.388																																						dbGAP											0													156.0	143.0	147.0					X																	16685675		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"""CTP synthase II"""			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.1258G>A	X.37:g.16685675C>T	ENSP00000401264:p.Asp420Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Missense_Mutation	SNP	pfam_CTP_synthase_N,pfam_GATASE_1,pfam_Peptidase_C26,tigrfam_CTP_synthase	p.D420N	ENST00000443824.1	37	c.1258	CCDS14175.1	X	.	.	.	.	.	.	.	.	.	.	C	2.328	-0.354000	0.05173	.	.	ENSG00000047230	ENST00000443824;ENST00000380241;ENST00000359276;ENST00000380207	T;T;T	0.38401	1.14;1.14;1.14	5.44	2.05	0.26809	Glutamine amidotransferase type 1 (2);	0.323075	0.30126	N	0.010354	T	0.04407	0.0121	N	0.00032	-2.585	0.32415	N	0.550104	B	0.02656	0.0	B	0.04013	0.001	T	0.27971	-1.0058	10	0.02654	T	1	-12.6172	3.4513	0.07499	0.0:0.4373:0.2211:0.3417	.	420	Q9NRF8	PYRG2_HUMAN	N	420;420;420;86	ENSP00000401264:D420N;ENSP00000369590:D420N;ENSP00000352222:D420N	ENSP00000352222:D420N	D	-	1	0	CTPS2	16595596	0.220000	0.23631	0.982000	0.44146	0.843000	0.47879	-0.207000	0.09384	0.020000	0.15106	-0.253000	0.11424	GAT	CTPS2	-	pfam_GATASE_1,pfam_Peptidase_C26,tigrfam_CTP_synthase	ENSG00000047230		0.388	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CTPS2	HGNC	protein_coding	OTTHUMT00000055906.1	231	0.00	0	C	NM_019857		16685675	16685675	-1	no_errors	ENST00000359276	ensembl	human	known	69_37n	missense	403	12.20	56	SNP	0.987	T
CYP4F12	66002	genome.wustl.edu	37	19	15807003	15807003	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr19:15807003C>T	ENST00000550308.1	+	11	1662	c.1282C>T	c.(1282-1284)Cat>Tat	p.H428Y	CYP4F12_ENST00000324632.10_Missense_Mutation_p.H428Y	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	428					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	TATAGGGGTCCATCACAACCC	0.552																																						dbGAP											0													104.0	107.0	106.0					19																	15807003		2199	4300	6499	-	-	-	SO:0001583	missense	0			AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.1282C>T	19.37:g.15807003C>T	ENSP00000448998:p.His428Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.H428Y	ENST00000550308.1	37	c.1282	CCDS42517.1	19	.	.	.	.	.	.	.	.	.	.	.	16.43	3.120307	0.56613	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	D;D	0.83075	-1.68;-1.68	2.31	2.31	0.28768	.	0.000000	0.64402	U	0.000001	D	0.92123	0.7503	H	0.94964	3.605	0.48830	D	0.999719	D	0.62365	0.991	D	0.75020	0.985	D	0.92986	0.6410	10	0.87932	D	0	.	10.711	0.45984	0.0:1.0:0.0:0.0	.	428	Q9HCS2	CP4FC_HUMAN	Y	428	ENSP00000448998:H428Y;ENSP00000321821:H428Y	ENSP00000321821:H428Y	H	+	1	0	CYP4F12	15668003	0.998000	0.40836	0.911000	0.35937	0.129000	0.20672	5.369000	0.66138	1.597000	0.50072	0.313000	0.20887	CAT	CYP4F12	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-II	ENSG00000186204		0.552	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F12	HGNC	protein_coding	OTTHUMT00000378938.9	292	0.00	0	C			15807003	15807003	+1	no_errors	ENST00000324632	ensembl	human	known	69_37n	missense	434	26.32	155	SNP	1.000	T
CYP4F12	66002	genome.wustl.edu	37	19	15807308	15807308	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr19:15807308C>G	ENST00000550308.1	+	12	1763	c.1383C>G	c.(1381-1383)ttC>ttG	p.F461L	CYP4F12_ENST00000324632.10_Missense_Mutation_p.F461L	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	461					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	TTATTCCTTTCTCCGCAGGGC	0.567																																						dbGAP											0													119.0	112.0	114.0					19																	15807308		2202	4300	6502	-	-	-	SO:0001583	missense	0			AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.1383C>G	19.37:g.15807308C>G	ENSP00000448998:p.Phe461Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.F461L	ENST00000550308.1	37	c.1383	CCDS42517.1	19	.	.	.	.	.	.	.	.	.	.	.	11.52	1.664228	0.29604	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	D;D	0.96300	-3.97;-3.97	2.31	1.27	0.21489	Cytochrome P450, conserved site (1);	0.000000	0.64402	U	0.000001	D	0.98510	0.9503	H	0.98542	4.26	0.53005	D	0.999963	D	0.89917	1.0	D	0.80764	0.994	D	0.97022	0.9744	10	0.87932	D	0	.	7.3569	0.26725	0.0:0.8547:0.0:0.1453	.	461	Q9HCS2	CP4FC_HUMAN	L	461	ENSP00000448998:F461L;ENSP00000321821:F461L	ENSP00000321821:F461L	F	+	3	2	CYP4F12	15668308	1.000000	0.71417	0.910000	0.35882	0.049000	0.14656	0.721000	0.25911	0.527000	0.28560	-0.657000	0.03884	TTC	CYP4F12	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	ENSG00000186204		0.567	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F12	HGNC	protein_coding	OTTHUMT00000378938.9	200	0.00	0	C			15807308	15807308	+1	no_errors	ENST00000324632	ensembl	human	known	69_37n	missense	171	22.27	49	SNP	1.000	G
CYP4F12	66002	genome.wustl.edu	37	19	15807835	15807835	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr19:15807835C>G	ENST00000550308.1	+	13	1895	c.1515C>G	c.(1513-1515)atC>atG	p.I505M	CYP4F12_ENST00000324632.10_Missense_Mutation_p.I505M	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	505					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	TGGAATTGATCATGCGCGCCG	0.577																																						dbGAP											0													57.0	61.0	59.0					19																	15807835		2202	4300	6502	-	-	-	SO:0001583	missense	0			AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.1515C>G	19.37:g.15807835C>G	ENSP00000448998:p.Ile505Met	Somatic		WXS	Illumina GAIIx	Phase_IV	E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.I505M	ENST00000550308.1	37	c.1515	CCDS42517.1	19	.	.	.	.	.	.	.	.	.	.	.	8.214	0.801081	0.16397	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.79940	-1.32;-1.32	2.31	-1.29	0.09288	.	0.086938	0.45867	U	0.000333	D	0.85729	0.5764	M	0.80422	2.495	0.30923	N	0.727777	D	0.64830	0.994	D	0.68943	0.961	T	0.81716	-0.0806	10	0.87932	D	0	.	6.591	0.22646	0.0:0.6:0.0:0.4	.	505	Q9HCS2	CP4FC_HUMAN	M	505	ENSP00000448998:I505M;ENSP00000321821:I505M	ENSP00000321821:I505M	I	+	3	3	CYP4F12	15668835	0.944000	0.32072	0.001000	0.08648	0.005000	0.04900	0.231000	0.17872	-0.211000	0.10124	0.313000	0.20887	ATC	CYP4F12	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000186204		0.577	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F12	HGNC	protein_coding	OTTHUMT00000378938.9	96	0.00	0	C			15807835	15807835	+1	no_errors	ENST00000324632	ensembl	human	known	69_37n	missense	150	34.78	80	SNP	0.956	G
CYP2A6	1548	genome.wustl.edu	37	19	41351269	41351269	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr19:41351269T>G	ENST00000301141.5	-	7	1111	c.1091A>C	c.(1090-1092)gAc>gCc	p.D364A	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	364					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GGGGATCACGTCTCCAAATCT	0.552																																						dbGAP											0													124.0	117.0	120.0					19																	41351269		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"""Cytochrome P450s"""	2610	protein-coding gene	gene with protein product		122720	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"""	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.1091A>C	19.37:g.41351269T>G	ENSP00000301141:p.Asp364Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV	p.D364A	ENST00000301141.5	37	c.1091	CCDS12568.1	19	.	.	.	.	.	.	.	.	.	.	-	13.95	2.389755	0.42410	.	.	ENSG00000255974	ENST00000301141	T	0.01252	5.1	2.76	2.76	0.32466	.	0.000000	0.85682	U	0.000000	T	0.03695	0.0105	L	0.28649	0.875	0.28325	N	0.92203	D;D	0.76494	0.999;0.98	D;D	0.85130	0.997;0.97	T	0.18272	-1.0342	10	0.72032	D	0.01	.	10.4092	0.44282	0.0:0.0:0.0:1.0	.	364;364	Q13120;P11509	.;CP2A6_HUMAN	A	364	ENSP00000301141:D364A	ENSP00000301141:D364A	D	-	2	0	CYP2A6	46043109	0.093000	0.21703	0.021000	0.16686	0.334000	0.28698	2.790000	0.47821	1.219000	0.43474	0.312000	0.20444	GAC	CYP2A6	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV	ENSG00000255974		0.552	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2A6	HGNC	protein_coding	OTTHUMT00000463259.1	210	0.00	0	T	NM_000762		41351269	41351269	-1	no_errors	ENST00000301141	ensembl	human	known	69_37n	missense	219	12.00	30	SNP	0.660	G
DNAH1	25981	genome.wustl.edu	37	3	52404636	52404636	+	Silent	SNP	G	G	A			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr3:52404636G>A	ENST00000420323.2	+	40	6663	c.6402G>A	c.(6400-6402)aaG>aaA	p.K2134K		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2134					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TAAGGCTCAAGATGGAGAACG	0.627																																						dbGAP											0													29.0	31.0	31.0					3																	52404636		1980	4142	6122	-	-	-	SO:0001819	synonymous_variant	0			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.6402G>A	3.37:g.52404636G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.K2134	ENST00000420323.2	37	c.6402	CCDS46842.1	3																																																																																			DNAH1	-	NULL	ENSG00000114841		0.627	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	26	0.00	0	G	NM_015512		52404636	52404636	+1	no_errors	ENST00000420323	ensembl	human	known	69_37n	silent	24	14.29	4	SNP	0.999	A
DPYSL4	10570	genome.wustl.edu	37	10	134010537	134010537	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr10:134010537delT	ENST00000338492.4	+	6	717	c.553delT	c.(553-555)ttcfs	p.F185fs	DPYSL4_ENST00000368629.1_Frame_Shift_Del_p.F108fs|DPYSL4_ENST00000368627.1_Frame_Shift_Del_p.F108fs	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	185					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GTACGAGATCTTCAGCATCAT	0.677																																						dbGAP											0													42.0	40.0	41.0					10																	134010537		2201	4297	6498	-	-	-	SO:0001589	frameshift_variant	0			AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.553delT	10.37:g.134010537delT	ENSP00000339850:p.Phe185fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMQ1|D3DRG5|O00240|Q5T0Q7	Frame_Shift_Del	DEL	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.F185fs	ENST00000338492.4	37	c.553	CCDS7665.1	10																																																																																			DPYSL4	-	pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase	ENSG00000151640		0.677	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL4	HGNC	protein_coding	OTTHUMT00000051050.2	16	0.00	0	T			134010537	134010537	+1	no_errors	ENST00000338492	ensembl	human	known	69_37n	frame_shift_del	22	31.25	10	DEL	1.000	-
DSCAML1	57453	genome.wustl.edu	37	11	117374631	117374631	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr11:117374631C>A	ENST00000321322.6	-	11	2469	c.2468G>T	c.(2467-2469)gGc>gTc	p.G823V	DSCAML1_ENST00000527706.1_Missense_Mutation_p.G553V	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	763	Ig-like C2-type 9.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GAGGTAGTAGCCGATGTCCTC	0.622																																						dbGAP											0													102.0	78.0	86.0					11																	117374631		2201	4296	6497	-	-	-	SO:0001583	missense	0				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.2468G>T	11.37:g.117374631C>A	ENSP00000315465:p.Gly823Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G823V	ENST00000321322.6	37	c.2468	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	C	23.8	4.464200	0.84425	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.81247	-1.47;-1.47	4.29	4.29	0.51040	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.93242	0.7847	H	0.97682	4.055	0.80722	D	1	D	0.71674	0.998	D	0.72625	0.978	D	0.95856	0.8879	9	0.87932	D	0	.	16.9369	0.86205	0.0:1.0:0.0:0.0	.	763	Q8TD84	DSCL1_HUMAN	V	553;823;530	ENSP00000434335:G553V;ENSP00000315465:G823V	ENSP00000315465:G823V	G	-	2	0	DSCAML1	116879841	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.605000	0.82844	2.237000	0.73441	0.462000	0.41574	GGC	DSCAML1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000177103		0.622	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	76	0.00	0	C	NM_020693		117374631	117374631	-1	no_errors	ENST00000321322	ensembl	human	known	69_37n	missense	77	27.36	29	SNP	1.000	A
AGO1	26523	genome.wustl.edu	37	1	36354044	36354045	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr1:36354044_36354045insC	ENST00000373204.4	+	2	255_256	c.42_43insC	c.(43-45)cccfs	p.P15fs	AGO1_ENST00000373206.1_5'UTR	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	15					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										GCGCTTACCTGCCCCCCCTGCA	0.569																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.49dupC	1.37:g.36354051_36354051dupC	ENSP00000362300:p.Pro15fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TA57|Q6P4S0	Frame_Shift_Ins	INS	pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.L16fs	ENST00000373204.4	37	c.42_43	CCDS398.1	1																																																																																			EIF2C1	-	NULL	ENSG00000092847		0.569	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C1	HGNC	protein_coding	OTTHUMT00000019337.3	78	0.00	0	-			36354044	36354045	+1	no_errors	ENST00000373204	ensembl	human	known	69_37n	frame_shift_ins	90	10.00	10	INS	1.000:1.000	C
EPHB1	2047	genome.wustl.edu	37	3	134644715	134644715	+	Missense_Mutation	SNP	C	C	T	rs556035012		TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr3:134644715C>T	ENST00000398015.3	+	2	486	c.116C>T	c.(115-117)gCg>gTg	p.A39V	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	39	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.A39E(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GCCAATCCTGCGTCCGGGGTG	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		20317	0.0		0.0	False		,,,				2504	0.001					dbGAP											2	Substitution - Missense(2)	lung(2)											68.0	73.0	71.0					3																	134644715		1919	4124	6043	-	-	-	SO:0001583	missense	0			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.116C>T	3.37:g.134644715C>T	ENSP00000381097:p.Ala39Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.A39V	ENST00000398015.3	37	c.116	CCDS46921.1	3	.	.	.	.	.	.	.	.	.	.	C	13.19	2.163005	0.38217	.	.	ENSG00000154928	ENST00000460895;ENST00000398015;ENST00000497173;ENST00000473867;ENST00000474732	T;T;T;T;T	0.03635	3.86;3.86;3.86;3.86;3.86	4.33	4.33	0.51752	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.735466	0.12677	N	0.448279	T	0.04227	0.0117	L	0.38175	1.15	0.80722	D	1	P;P	0.40794	0.635;0.729	B;B	0.30855	0.121;0.118	T	0.55373	-0.8151	10	0.52906	T	0.07	.	17.0176	0.86423	0.0:1.0:0.0:0.0	.	39;39	B5A969;P54762	.;EPHB1_HUMAN	V	17;39;17;17;17	ENSP00000417435:A17V;ENSP00000381097:A39V;ENSP00000419688:A17V;ENSP00000417216:A17V;ENSP00000418352:A17V	ENSP00000381097:A39V	A	+	2	0	EPHB1	136127405	0.284000	0.24287	0.338000	0.25549	0.596000	0.36781	5.278000	0.65592	2.253000	0.74438	0.555000	0.69702	GCG	EPHB1	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom	ENSG00000154928		0.463	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	HGNC	protein_coding	OTTHUMT00000357671.1	163	0.00	0	C	NM_004441		134644715	134644715	+1	no_errors	ENST00000398015	ensembl	human	known	69_37n	missense	179	10.95	22	SNP	0.588	T
FAM20A	54757	genome.wustl.edu	37	17	66533795	66533795	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr17:66533795T>G	ENST00000592554.1	-	11	2171	c.1449A>C	c.(1447-1449)gaA>gaC	p.E483D	FAM20A_ENST00000226094.5_5'UTR|PRKAR1A_ENST00000588188.2_Intron	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	483					calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					TGAGCTGGTCTTCCAGCAGTG	0.527																																						dbGAP											0													99.0	80.0	87.0					17																	66533795		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.1449A>C	17.37:g.66533795T>G	ENSP00000468308:p.Glu483Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN47|B2RN49|Q9UF95	Missense_Mutation	SNP	pfam_DUF1193	p.E483D	ENST00000592554.1	37	c.1449	CCDS11679.1	17	.	.	.	.	.	.	.	.	.	.	T	10.48	1.362164	0.24684	.	.	ENSG00000108950	ENST00000226094;ENST00000375556	.	.	.	5.81	-4.42	0.03579	.	0.631913	0.18218	N	0.147965	T	0.25531	0.0621	L	0.54323	1.7	0.23831	N	0.996727	B;B	0.12630	0.006;0.001	B;B	0.12156	0.007;0.002	T	0.31166	-0.9953	9	0.14656	T	0.56	-5.3758	3.1476	0.06477	0.097:0.2874:0.3538:0.2618	.	483;345	Q96MK3;B7Z4Y3	FA20A_HUMAN;.	D	483;87	.	ENSP00000226094:E483D	E	-	3	2	FAM20A	64045390	0.000000	0.05858	0.212000	0.23672	0.723000	0.41478	-0.452000	0.06787	-1.273000	0.02424	0.454000	0.30748	GAA	FAM20A	-	pfam_DUF1193	ENSG00000108950		0.527	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM20A	HGNC	protein_coding	OTTHUMT00000450029.2	91	0.00	0	T	NM_017565		66533795	66533795	-1	no_errors	ENST00000592554	ensembl	human	known	69_37n	missense	243	19.54	59	SNP	0.004	G
FBXL18	80028	genome.wustl.edu	37	7	5540158	5540158	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr7:5540158G>T	ENST00000382368.3	-	3	1865	c.1742C>A	c.(1741-1743)tCa>tAa	p.S581*	FBXL18_ENST00000453700.3_Nonsense_Mutation_p.S581*	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	581									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		CAACATGTCTGAGAGCGCGGG	0.662																																						dbGAP											0													43.0	49.0	47.0					7																	5540158		2045	4175	6220	-	-	-	SO:0001587	stop_gained	0			AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"""F-boxes / Leucine-rich repeats"""	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.1742C>A	7.37:g.5540158G>T	ENSP00000371805:p.Ser581*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BR90|Q9BTC7|Q9HAK7	Nonsense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.S581*	ENST00000382368.3	37	c.1742	CCDS43546.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.715252|5.715252	0.96830|0.96830	.|.	.|.	ENSG00000155034|ENSG00000155034	ENST00000458142|ENST00000382368;ENST00000312577;ENST00000453700	.|.	.|.	.|.	5.35|5.35	3.53|3.53	0.40419|0.40419	.|.	.|0.379083	.|0.28442	.|N	.|0.015330	T|.	0.48750|.	0.1517|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.60727|.	-0.7206|.	3|.	.|0.87932	.|D	.|0	.|.	5.0032|5.0032	0.14275|0.14275	0.2613:0.1535:0.5852:0.0|0.2613:0.1535:0.5852:0.0	.|.	.|.	.|.	.|.	K|X	465|581	.|.	.|ENSP00000311990:S581X	Q|S	-|-	1|2	0|0	FBXL18|FBXL18	5506684|5506684	0.653000|0.653000	0.27358|0.27358	0.002000|0.002000	0.10522|0.10522	0.648000|0.648000	0.38561|0.38561	2.463000|2.463000	0.45058|0.45058	0.644000|0.644000	0.30656|0.30656	-0.237000|-0.237000	0.12165|0.12165	CAG|TCA	FBXL18	-	NULL	ENSG00000155034		0.662	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL18	HGNC	protein_coding	OTTHUMT00000324093.1	10	0.00	0	G	NM_024963		5540158	5540158	-1	no_errors	ENST00000453700	ensembl	human	known	69_37n	nonsense	21	19.23	5	SNP	0.009	T
FHAD1	114827	genome.wustl.edu	37	1	15671641	15671641	+	Silent	SNP	G	G	T			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr1:15671641G>T	ENST00000375998.4	+	15	2127	c.2127G>T	c.(2125-2127)cgG>cgT	p.R709R	FHAD1_ENST00000417793.1_Silent_p.R709R|FHAD1_ENST00000471347.1_3'UTR|RP3-467K16.2_ENST00000428747.1_RNA|FHAD1_ENST00000314740.8_5'UTR|FHAD1_ENST00000358897.4_Silent_p.R709R|FHAD1_ENST00000375999.3_Silent_p.R709R			B1AJZ9	FHAD1_HUMAN	forkhead-associated (FHA) phosphopeptide binding domain 1	709										skin(1)|stomach(1)	2						AGGAAGAACGGAAGAGAATGC	0.498																																						dbGAP											0													81.0	82.0	82.0					1																	15671641		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK093300		1p36.21	2012-04-19			ENSG00000142621	ENSG00000142621			29408	protein-coding gene	gene with protein product						11572484	Standard	NM_052929		Approved	KIAA1937	uc001awb.2	B1AJZ9	OTTHUMG00000002088	ENST00000375998.4:c.2127G>T	1.37:g.15671641G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P6F5|Q8N8D3|Q8N9T6|Q8NA05	Missense_Mutation	SNP	NULL	p.G64V	ENST00000375998.4	37	c.191		1	.	.	.	.	.	.	.	.	.	.	G	2.833	-0.242192	0.05906	.	.	ENSG00000142621	ENST00000444385	.	.	.	3.43	1.4	0.22301	.	.	.	.	.	T	0.25306	0.0615	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.22765	-1.0207	4	.	.	.	.	5.0896	0.14700	0.1217:0.2119:0.6664:0.0	.	.	.	.	V	64	.	.	G	+	2	0	FHAD1	15544228	0.011000	0.17503	0.004000	0.12327	0.006000	0.05464	1.008000	0.29872	0.406000	0.25560	0.561000	0.74099	GGA	FHAD1	-	NULL	ENSG00000142621		0.498	FHAD1-026	PUTATIVE	basic|appris_candidate_longest	protein_coding	FHAD1	HGNC	protein_coding	OTTHUMT00000393400.2	40	0.00	0	G	NM_052929		15671641	15671641	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000444385	ensembl	human	putative	69_37n	missense	30	21.05	8	SNP	0.004	T
FUT3	2525	genome.wustl.edu	37	19	5844460	5844460	+	Missense_Mutation	SNP	G	G	A	rs574660146	byFrequency	TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr19:5844460G>A	ENST00000303225.6	-	3	1025	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	FUT3_ENST00000458379.2_Missense_Mutation_p.R131C|FUT3_ENST00000589620.1_Missense_Mutation_p.R131C|FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000589918.1_Missense_Mutation_p.R131C	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	131					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)	p.R131G(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CAGATCCAGCGCTGCCCCTGC	0.592													G|||	3	0.000599042	0.0	0.0	5008	,	,		15381	0.0		0.0	False		,,,				2504	0.0031				Esophageal Squamous(82;745 1728 24593 44831)	dbGAP											1	Substitution - Missense(1)	lung(1)											93.0	79.0	84.0					19																	5844460		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"""CD molecules"", ""Blood group antigens"", ""Fucosyltransferases"""	4014	protein-coding gene	gene with protein product		111100	"""fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"""	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.391C>T	19.37:g.5844460G>A	ENSP00000305603:p.Arg131Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Missense_Mutation	SNP	pfam_Glyco_trans_10	p.R131C	ENST00000303225.6	37	c.391	CCDS12153.1	19	.	.	.	.	.	.	.	.	.	.	G	12.40	1.926448	0.34002	.	.	ENSG00000171124	ENST00000303225;ENST00000458379	T;T	0.27890	1.64;1.64	2.24	2.24	0.28232	.	0.310966	0.27720	N	0.018123	T	0.61986	0.2391	H	0.94925	3.6	0.39499	D	0.968167	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.99;0.99;0.99	T	0.70414	-0.4878	10	0.49607	T	0.09	.	10.5317	0.44981	0.0:0.0:1.0:0.0	.	131;131;131;131	B3W6H0;A8K737;B3GVC1;P21217	.;.;.;FUT3_HUMAN	C	131	ENSP00000305603:R131C;ENSP00000416443:R131C	ENSP00000305603:R131C	R	-	1	0	FUT3	5795460	0.971000	0.33674	0.980000	0.43619	0.162000	0.22319	1.359000	0.34113	1.169000	0.42739	0.205000	0.17691	CGC	FUT3	-	pfam_Glyco_trans_10	ENSG00000171124		0.592	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FUT3	HGNC	protein_coding	OTTHUMT00000452204.1	60	0.00	0	G	NM_000149		5844460	5844460	-1	no_errors	ENST00000303225	ensembl	human	known	69_37n	missense	54	12.70	8	SNP	1.000	A
GATA3	2625	genome.wustl.edu	37	10	8111507	8111508	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr10:8111507_8111508insG	ENST00000346208.3	+	5	1448_1449	c.993_994insG	c.(994-996)gccfs	p.A332fs	GATA3_ENST00000379328.3_Frame_Shift_Ins_p.A333fs|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	332					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GGAGGAGGAATGCCAATGGGGA	0.564			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0																																										-	-	-	SO:0001589	frameshift_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.994dupG	10.37:g.8111508_8111508dupG	ENSP00000341619:p.Ala332fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Ins	INS	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.A332fs	ENST00000346208.3	37	c.996_997	CCDS7083.1	10																																																																																			GATA3	-	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA	ENSG00000107485		0.564	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	104	0.00	0	-	NM_001002295		8111507	8111508	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_ins	97	23.02	29	INS	0.872:1.000	G
GBE1	2632	genome.wustl.edu	37	3	81754674	81754674	+	Silent	SNP	G	G	A			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr3:81754674G>A	ENST00000429644.2	-	2	877	c.234C>T	c.(232-234)gtC>gtT	p.V78V	GBE1_ENST00000489715.1_Silent_p.V37V	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	78					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		CACATCTGTGGACGCCAAATG	0.393									Glycogen Storage Disease, type IV																													dbGAP											0													58.0	53.0	55.0					3																	81754674		1850	4090	5940	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Andersen Disease, Brancher deficiency		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"""glycogen branching enzyme"", ""Andersen disease"", ""glycogen storage disease type IV"""	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.234C>T	3.37:g.81754674G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWV3|Q96EN0	Silent	SNP	pfam_A-amylase_b_C,pfam_Glyco_hydro_13_cat_dom,pfam_Glyco_hydro_13_N,superfamily_Glycoside_hydrolase_SF,superfamily_Ig_E-set,smart_Glyco_hydro_13_sub_cat_dom	p.V78	ENST00000429644.2	37	c.234	CCDS54612.1	3																																																																																			GBE1	-	pfam_Glyco_hydro_13_N,superfamily_Ig_E-set	ENSG00000114480		0.393	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBE1	HGNC	protein_coding	OTTHUMT00000352760.2	97	0.00	0	G			81754674	81754674	-1	no_errors	ENST00000429644	ensembl	human	known	69_37n	silent	50	18.03	11	SNP	0.978	A
IGF1R	3480	genome.wustl.edu	37	15	99440131	99440131	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr15:99440131G>T	ENST00000268035.6	+	4	1710	c.1099G>T	c.(1099-1101)Ggg>Tgg	p.G367W	IGF1R_ENST00000558762.1_Missense_Mutation_p.G367W	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	367					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)	p.G367W(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CATCCGACGGGGGAGTAAGTA	0.438																																						dbGAP											1	Substitution - Missense(1)	lung(1)											95.0	83.0	87.0					15																	99440131		2197	4297	6494	-	-	-	SO:0001583	missense	0			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.1099G>T	15.37:g.99440131G>T	ENSP00000268035:p.Gly367Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.G367W	ENST00000268035.6	37	c.1099	CCDS10378.1	15	.	.	.	.	.	.	.	.	.	.	G	28.2	4.901631	0.92035	.	.	ENSG00000140443	ENST00000268035	T	0.80033	-1.33	5.49	5.49	0.81192	EGF receptor, L domain (1);	0.000000	0.64402	D	0.000016	D	0.92254	0.7543	M	0.91354	3.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.93564	0.6898	10	0.87932	D	0	.	19.3929	0.94592	0.0:0.0:1.0:0.0	.	367;367	C9J5X1;P08069	.;IGF1R_HUMAN	W	367	ENSP00000268035:G367W	ENSP00000268035:G367W	G	+	1	0	IGF1R	97257654	1.000000	0.71417	0.989000	0.46669	0.917000	0.54804	9.869000	0.99810	2.583000	0.87209	0.655000	0.94253	GGG	IGF1R	-	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_EGF_rcpt_L	ENSG00000140443		0.438	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IGF1R	HGNC	protein_coding	OTTHUMT00000313537.2	108	0.00	0	G	NM_000875		99440131	99440131	+1	no_errors	ENST00000268035	ensembl	human	known	69_37n	missense	591	60.81	917	SNP	1.000	T
KIF21A	55605	genome.wustl.edu	37	12	39764027	39764027	+	Silent	SNP	T	T	C			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr12:39764027T>C	ENST00000361418.5	-	2	96	c.81A>G	c.(79-81)ggA>ggG	p.G27G	KIF21A_ENST00000541463.2_Silent_p.G27G|KIF21A_ENST00000395670.3_Silent_p.G27G|KIF21A_ENST00000544797.2_Silent_p.G27G|KIF21A_ENST00000361961.3_Silent_p.G27G			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	27	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AAATATGGCATCCTTCAATCT	0.358																																						dbGAP											0													112.0	110.0	111.0					12																	39764027		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.81A>G	12.37:g.39764027T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G27	ENST00000361418.5	37	c.81	CCDS53776.1	12																																																																																			KIF21A	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000139116		0.358	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF21A	HGNC	protein_coding	OTTHUMT00000403581.1	145	0.00	0	T	NM_017641		39764027	39764027	-1	no_errors	ENST00000395670	ensembl	human	known	69_37n	silent	95	12.04	13	SNP	1.000	C
KIF2B	84643	genome.wustl.edu	37	17	51901125	51901125	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr17:51901125T>C	ENST00000268919.4	+	1	887	c.731T>C	c.(730-732)gTt>gCt	p.V244A		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	244	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GACAATGTGGTTATGGTGCAT	0.542																																						dbGAP											0													125.0	103.0	111.0					17																	51901125		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.731T>C	17.37:g.51901125T>C	ENSP00000268919:p.Val244Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96MA2|Q9BXG6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.V244A	ENST00000268919.4	37	c.731	CCDS32685.1	17	.	.	.	.	.	.	.	.	.	.	T	22.2	4.256969	0.80246	.	.	ENSG00000141200	ENST00000268919	T	0.19250	2.16	5.63	5.63	0.86233	Kinesin, motor domain (4);	0.000000	0.46442	D	0.000282	T	0.33469	0.0864	L	0.59912	1.85	0.40679	D	0.982287	P	0.41978	0.767	P	0.48488	0.579	T	0.08207	-1.0733	10	0.66056	D	0.02	.	15.3186	0.74102	0.0:0.0:0.0:1.0	.	244	Q8N4N8	KIF2B_HUMAN	A	244	ENSP00000268919:V244A	ENSP00000268919:V244A	V	+	2	0	KIF2B	49256124	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	6.210000	0.72176	2.258000	0.74832	0.533000	0.62120	GTT	KIF2B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000141200		0.542	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2B	HGNC	protein_coding	OTTHUMT00000438854.1	75	0.00	0	T	NM_032559		51901125	51901125	+1	no_errors	ENST00000268919	ensembl	human	known	69_37n	missense	102	20.31	26	SNP	1.000	C
MFI2	4241	genome.wustl.edu	37	3	196749945	196749946	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr3:196749945_196749946insC	ENST00000296350.5	-	5	639_640	c.526_527insG	c.(526-528)gcafs	p.A176fs	MFI2_ENST00000296351.4_Frame_Shift_Ins_p.A176fs	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	176	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GGTCTCTCCTGCCCCCGGGACG	0.599																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.527dupG	3.37:g.196749950_196749950dupC	ENSP00000296350:p.Ala176fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BQE2	Frame_Shift_Ins	INS	pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin,prints_Peptidase_S60	p.A176fs	ENST00000296350.5	37	c.527_526	CCDS3325.1	3																																																																																			MFI2	-	pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin,prints_Peptidase_S60	ENSG00000163975		0.599	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MFI2	HGNC	protein_coding	OTTHUMT00000340458.1	12	0.00	0	-			196749945	196749946	-1	no_errors	ENST00000296350	ensembl	human	known	69_37n	frame_shift_ins	10	16.67	2	INS	1.000:1.000	C
MUC17	140453	genome.wustl.edu	37	7	100676850	100676850	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr7:100676850C>T	ENST00000306151.4	+	3	2217	c.2153C>T	c.(2152-2154)cCt>cTt	p.P718L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	718	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCAGCACACCTGTGACCACT	0.498																																						dbGAP											0													318.0	321.0	320.0					7																	100676850		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2153C>T	7.37:g.100676850C>T	ENSP00000302716:p.Pro718Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.P718L	ENST00000306151.4	37	c.2153	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	C	2.818	-0.245411	0.05906	.	.	ENSG00000169876	ENST00000306151	T	0.03242	4.0	1.33	1.33	0.21861	.	.	.	.	.	T	0.02193	0.0068	N	0.24115	0.695	0.09310	N	1	P	0.36222	0.544	B	0.23574	0.047	T	0.47898	-0.9081	9	0.20519	T	0.43	.	8.7039	0.34343	0.0:1.0:0.0:0.0	.	718	Q685J3	MUC17_HUMAN	L	718	ENSP00000302716:P718L	ENSP00000302716:P718L	P	+	2	0	MUC17	100463570	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	0.797000	0.26999	1.080000	0.41073	0.395000	0.25975	CCT	MUC17	-	NULL	ENSG00000169876		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	274	0.00	0	C	NM_001040105		100676850	100676850	+1	no_errors	ENST00000306151	ensembl	human	known	69_37n	missense	132	13.55	21	SNP	0.001	T
MUC4	4585	genome.wustl.edu	37	3	195511877	195511877	+	Missense_Mutation	SNP	G	G	A	rs55824312		TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr3:195511877G>A	ENST00000463781.3	-	2	7033	c.6574C>T	c.(6574-6576)Cct>Tct	p.P2192S	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P2192S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	981					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.P2192S(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACAGGAAGAGGGGTGGCGTGA	0.597																																						dbGAP											1	Substitution - Missense(1)	kidney(1)											12.0	16.0	15.0					3																	195511877		642	1554	2196	-	-	-	SO:0001583	missense	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6574C>T	3.37:g.195511877G>A	ENSP00000417498:p.Pro2192Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom	p.P2192S	ENST00000463781.3	37	c.6574	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	G	5.908	0.351548	0.11182	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.29655	1.59;1.56	.	.	.	.	.	.	.	.	T	0.21761	0.0524	N	0.02539	-0.55	0.09310	N	1	D	0.67145	0.996	D	0.72625	0.978	T	0.10753	-1.0616	7	.	.	.	.	3.4513	0.07499	1.0E-4:1.0E-4:0.552:0.4478	.	2192	E7ESK3	.	S	2192	ENSP00000417498:P2192S;ENSP00000420243:P2192S	.	P	-	1	0	MUC4	196996272	0.002000	0.14202	0.009000	0.14445	0.150000	0.21749	-0.167000	0.09940	0.488000	0.27723	0.064000	0.15345	CCT	MUC4	-	NULL	ENSG00000145113		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	49	0.00	0	G	NM_018406		195511877	195511877	-1	no_errors	ENST00000463781	ensembl	human	known	69_37n	missense	66	18.52	15	SNP	0.052	A
NDST4	64579	genome.wustl.edu	37	4	115997884	115997884	+	Silent	SNP	T	T	G			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr4:115997884T>G	ENST00000264363.2	-	2	987	c.309A>C	c.(307-309)cgA>cgC	p.R103R		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	103	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GGTACTGAAATCGGCTGGACT	0.408																																						dbGAP											0													100.0	111.0	107.0					4																	115997884		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.309A>C	4.37:g.115997884T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2KHM8	Silent	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom	p.R103	ENST00000264363.2	37	c.309	CCDS3706.1	4																																																																																			NDST4	-	pfam_Heparan_SO4_deacetylase	ENSG00000138653		0.408	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST4	HGNC	protein_coding	OTTHUMT00000256427.1	322	0.00	0	T	NM_022569		115997884	115997884	-1	no_errors	ENST00000264363	ensembl	human	known	69_37n	silent	238	10.19	27	SNP	0.857	G
NEBL	10529	genome.wustl.edu	37	10	21186081	21186081	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr10:21186081T>C	ENST00000377122.4	-	1	450	c.54A>G	c.(52-54)atA>atG	p.I18M	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000377119.1_Missense_Mutation_p.I18M|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	18					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						cttcttcccctatcttttctt	0.333																																						dbGAP											0													142.0	131.0	135.0					10																	21186081		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.54A>G	10.37:g.21186081T>C	ENSP00000366326:p.Ile18Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain	p.I18M	ENST00000377122.4	37	c.54	CCDS7134.1	10	.	.	.	.	.	.	.	.	.	.	T	8.272	0.813658	0.16537	.	.	ENSG00000078114	ENST00000377122;ENST00000377119	T;T	0.16897	3.56;2.31	5.76	1.78	0.24846	.	1.236270	0.05406	N	0.541530	T	0.10165	0.0249	N	0.08118	0	0.29257	N	0.871572	B	0.15141	0.012	B	0.26094	0.066	T	0.36187	-0.9758	10	0.40728	T	0.16	.	5.1382	0.14945	0.1359:0.2328:0.0:0.6313	.	18	O76041	NEBL_HUMAN	M	18	ENSP00000366326:I18M;ENSP00000366323:I18M	ENSP00000366323:I18M	I	-	3	3	NEBL	21226087	0.011000	0.17503	0.034000	0.17996	0.536000	0.34869	0.123000	0.15708	0.469000	0.27268	0.533000	0.62120	ATA	NEBL	-	NULL	ENSG00000078114		0.333	NEBL-004	KNOWN	basic|CCDS	protein_coding	NEBL	HGNC	protein_coding	OTTHUMT00000047113.1	480	0.00	0	T	NM_006393		21186081	21186081	-1	no_errors	ENST00000377122	ensembl	human	known	69_37n	missense	167	22.58	49	SNP	0.007	C
NR2C2	7182	genome.wustl.edu	37	3	15064743	15064743	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr3:15064743G>T	ENST00000425241.1	+	6	955	c.593G>T	c.(592-594)cGg>cTg	p.R198L	NR2C2_ENST00000323373.6_Missense_Mutation_p.R217L|NR2C2_ENST00000393102.3_Missense_Mutation_p.R198L|NR2C2_ENST00000406272.2_Missense_Mutation_p.R198L			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	198					cell differentiation (GO:0030154)|gene expression (GO:0010467)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.R217L(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GATGTGCAACGGGAGAAACCA	0.423																																						dbGAP											1	Substitution - Missense(1)	lung(1)											128.0	121.0	124.0					3																	15064743		2203	4300	6503	-	-	-	SO:0001583	missense	0			L27586	CCDS2621.1, CCDS74905.1	3p25	2013-01-16			ENSG00000177463	ENSG00000177463		"""Nuclear hormone receptors"""	7972	protein-coding gene	gene with protein product		601426		TR4		8661150, 8016112	Standard	XM_005265428		Approved	TAK1, TR2R1, hTAK1	uc003bzi.3	P49116	OTTHUMG00000129839	ENST00000425241.1:c.593G>T	3.37:g.15064743G>T	ENSP00000388387:p.Arg198Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3H5|B6ZGT8|P55092	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.R217L	ENST00000425241.1	37	c.650		3	.	.	.	.	.	.	.	.	.	.	G	13.00	2.107048	0.37145	.	.	ENSG00000177463	ENST00000425241;ENST00000323373;ENST00000393102;ENST00000406272	D;D;D;D	0.94793	-3.51;-3.52;-3.51;-3.51	5.87	5.0	0.66597	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	D	0.94584	0.8255	M	0.71036	2.16	0.80722	D	1	P;P	0.47034	0.618;0.889	B;P	0.45310	0.382;0.476	D	0.94523	0.7729	10	0.54805	T	0.06	.	16.8291	0.85939	0.0:0.0:0.8703:0.1297	.	198;217	P49116;F2YGU2	NR2C2_HUMAN;.	L	198;217;198;198	ENSP00000388387:R198L;ENSP00000320447:R217L;ENSP00000376814:R198L;ENSP00000384463:R198L	ENSP00000320447:R217L	R	+	2	0	NR2C2	15039747	1.000000	0.71417	0.999000	0.59377	0.006000	0.05464	9.414000	0.97362	1.615000	0.50252	-0.169000	0.13324	CGG	NR2C2	-	superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000177463		0.423	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	NR2C2	HGNC	protein_coding	OTTHUMT00000340729.1	129	0.00	0	G	NM_003298		15064743	15064743	+1	no_errors	ENST00000323373	ensembl	human	known	69_37n	missense	105	12.40	15	SNP	1.000	T
OR1L6	392390	genome.wustl.edu	37	9	125512715	125512715	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr9:125512715C>A	ENST00000373684.1	+	1	697	c.697C>A	c.(697-699)Cag>Aag	p.Q233K	OR1L6_ENST00000304720.2_Missense_Mutation_p.Q197K			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						ATCCTCCAGCCAGATGGTGGT	0.498																																						dbGAP											0													87.0	53.0	64.0					9																	125512715		2203	4280	6483	-	-	-	SO:0001583	missense	0				CCDS35130.1, CCDS35130.2	9q33.2	2013-09-20			ENSG00000171459	ENSG00000171459		"""GPCR / Class A : Olfactory receptors"""	8218	protein-coding gene	gene with protein product				OR1L7			Standard	NM_001004453		Approved		uc022bna.1	Q8NGR2	OTTHUMG00000020621	ENST00000373684.1:c.697C>A	9.37:g.125512715C>A	ENSP00000362788:p.Gln233Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFM8|Q96R80	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.Q233K	ENST00000373684.1	37	c.697		9	.	.	.	.	.	.	.	.	.	.	.	14.08	2.428649	0.43122	.	.	ENSG00000171459	ENST00000373684;ENST00000304720	T;T	0.00048	8.82;8.82	4.53	3.6	0.41247	GPCR, rhodopsin-like superfamily (1);	0.125811	0.36444	N	0.002598	T	0.00241	0.0007	N	0.20574	0.59	0.09310	N	1	D	0.65815	0.995	D	0.78314	0.991	T	0.66097	-0.6008	10	0.36615	T	0.2	-15.8163	12.4165	0.55496	0.0:0.5343:0.4657:0.0	.	233	Q8NGR2	OR1L6_HUMAN	K	233;197	ENSP00000362788:Q233K;ENSP00000304235:Q197K	ENSP00000304235:Q197K	Q	+	1	0	OR1L6	124552536	0.000000	0.05858	0.958000	0.39756	0.987000	0.75469	-0.336000	0.07863	1.218000	0.43458	0.591000	0.81541	CAG	OR1L6	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000171459		0.498	OR1L6-201	KNOWN	basic	protein_coding	OR1L6	HGNC	protein_coding		122	0.00	0	C			125512715	125512715	+1	no_errors	ENST00000373684	ensembl	human	known	69_37n	missense	83	20.19	21	SNP	0.071	A
OTUD4	54726	genome.wustl.edu	37	4	146076764	146076764	+	Silent	SNP	G	G	C			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr4:146076764G>C	ENST00000447906.2	-	9	952	c.765C>G	c.(763-765)gtC>gtG	p.V255V	OTUD4_ENST00000454497.2_Silent_p.V190V|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	255					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)					CATTTCTATAGACTGCAGGAT	0.368																																						dbGAP											0													111.0	111.0	111.0					4																	146076764		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0				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.765C>G	4.37:g.146076764G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Silent	SNP	pfam_OTU,pfscan_OTU	p.V255	ENST00000447906.2	37	c.765		4																																																																																			OTUD4	-	NULL	ENSG00000164164		0.368	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	OTUD4	HGNC	protein_coding	OTTHUMT00000365117.2	83	0.00	0	G	NM_017493		146076764	146076764	-1	no_errors	ENST00000447906	ensembl	human	known	69_37n	silent	45	11.76	6	SNP	0.997	C
PCDH19	57526	genome.wustl.edu	37	X	99662504	99662505	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chrX:99662504_99662505insG	ENST00000373034.4	-	1	2766_2767	c.1091_1092insC	c.(1090-1092)ccgfs	p.P364fs	PCDH19_ENST00000255531.7_Frame_Shift_Ins_p.P364fs|PCDH19_ENST00000420881.2_Frame_Shift_Ins_p.P364fs	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	364	Cadherin 4. {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)	p.P364fs*4(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TCACGTAGCCCGGGGGGGCGCT	0.609																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)	GRCh37	CI082278	PCDH19	I																																				-	-	-	SO:0001589	frameshift_variant	0			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1092dupC	X.37:g.99662511_99662511dupG	ENSP00000362125:p.Pro364fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Frame_Shift_Ins	INS	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Y366fs	ENST00000373034.4	37	c.1092_1091	CCDS55462.1	X																																																																																			PCDH19	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000165194		0.609	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH19	HGNC	protein_coding	OTTHUMT00000057479.2	16	0.00	0	-	NM_020766		99662504	99662505	-1	no_errors	ENST00000373034	ensembl	human	known	69_37n	frame_shift_ins	21	16.00	4	INS	0.984:1.000	G
PIK3CB	5291	genome.wustl.edu	37	3	138453537	138453537	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr3:138453537A>C	ENST00000477593.1	-	6	984	c.911T>G	c.(910-912)aTa>aGa	p.I304R	PIK3CB_ENST00000289153.2_Missense_Mutation_p.I304R			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	304					activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	ATTTCGATTTATGGCAGCCTC	0.373																																						dbGAP											0													156.0	155.0	155.0					3																	138453537		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.911T>G	3.37:g.138453537A>C	ENSP00000418143:p.Ile304Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNF0|Q24JU2	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ARM-type_fold,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.I304R	ENST00000477593.1	37	c.911	CCDS3104.1	3	.	.	.	.	.	.	.	.	.	.	A	11.90	1.775747	0.31411	.	.	ENSG00000051382	ENST00000477593;ENST00000289153	T;T	0.62232	0.04;0.04	6.06	6.06	0.98353	.	0.106720	0.64402	D	0.000003	T	0.44201	0.1282	N	0.08118	0	0.80722	D	1	B	0.26602	0.154	B	0.25987	0.065	T	0.38607	-0.9653	10	0.24483	T	0.36	-20.1873	16.6245	0.84952	1.0:0.0:0.0:0.0	.	304	P42338	PK3CB_HUMAN	R	304	ENSP00000418143:I304R;ENSP00000289153:I304R	ENSP00000289153:I304R	I	-	2	0	PIK3CB	139936227	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	7.161000	0.77505	2.323000	0.78572	0.528000	0.53228	ATA	PIK3CB	-	NULL	ENSG00000051382		0.373	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CB	HGNC	protein_coding	OTTHUMT00000358019.1	262	0.00	0	A			138453537	138453537	-1	no_errors	ENST00000289153	ensembl	human	known	69_37n	missense	160	28.12	63	SNP	1.000	C
PLOD3	8985	genome.wustl.edu	37	7	100855927	100855927	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr7:100855927G>A	ENST00000223127.3	-	9	1287	c.889C>T	c.(889-891)Cgg>Tgg	p.R297W		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	297					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)	p.R297fs*61(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	AGAAACACCCGGGGGGGAGGC	0.642																																						dbGAP											2	Deletion - Frameshift(2)	large_intestine(2)											28.0	35.0	33.0					7																	100855927		2202	4297	6499	-	-	-	SO:0001583	missense	0			AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"""lysyl hydroxlase 3"""	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.889C>T	7.37:g.100855927G>A	ENSP00000223127:p.Arg297Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6W6|Q540C3	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.R297W	ENST00000223127.3	37	c.889	CCDS5715.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.71|19.71	3.878993|3.878993	0.72294|0.72294	.|.	.|.	ENSG00000106397|ENSG00000106397	ENST00000541462|ENST00000223127	.|T	.|0.65549	.|-0.16	4.87|4.87	3.95|3.95	0.45737|0.45737	.|.	.|0.164121	.|0.41938	.|D	.|0.000794	T|T	0.59824|0.59824	0.2222|0.2222	L|L	0.43152|0.43152	1.355|1.355	0.31573|0.31573	N|N	0.656094|0.656094	.|D	.|0.62365	.|0.991	.|P	.|0.48677	.|0.586	T|T	0.68565|0.68565	-0.5375|-0.5375	6|10	0.30078|0.62326	T|D	0.28|0.03	0.0556|0.0556	12.3368|12.3368	0.55071|0.55071	0.0:0.0:0.8312:0.1688|0.0:0.0:0.8312:0.1688	.|.	.|297	.|O60568	.|PLOD3_HUMAN	L|W	201|297	.|ENSP00000223127:R297W	ENSP00000442863:P201L|ENSP00000223127:R297W	P|R	-|-	2|1	0|2	PLOD3|PLOD3	100642647|100642647	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	1.963000|1.963000	0.40452|0.40452	2.238000|2.238000	0.73509|0.73509	0.462000|0.462000	0.41574|0.41574	CCG|CGG	PLOD3	-	NULL	ENSG00000106397		0.642	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLOD3	HGNC	protein_coding	OTTHUMT00000347470.1	46	0.00	0	G			100855927	100855927	-1	no_errors	ENST00000223127	ensembl	human	known	69_37n	missense	49	15.25	9	SNP	1.000	A
PRDM10	56980	genome.wustl.edu	37	11	129827805	129827805	+	Splice_Site	SNP	C	C	A			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr11:129827805C>A	ENST00000360871.3	-	3	301	c.70G>T	c.(70-72)Gtg>Ttg	p.V24L	PRDM10_ENST00000358825.5_Splice_Site_p.V24L|PRDM10_ENST00000528746.1_Splice_Site_p.V24L	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	24					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		ACAAAGTGCACCTGGCATAAA	0.498																																						dbGAP											0													176.0	159.0	165.0					11																	129827805		2201	4297	6498	-	-	-	SO:0001630	splice_region_variant	0			AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.70-1G>T	11.37:g.129827805C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V24L	ENST00000360871.3	37	c.70	CCDS8484.1	11	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585815	0.86748	.	.	ENSG00000170325	ENST00000358825;ENST00000360871;ENST00000528746;ENST00000527581;ENST00000531431	T;T;T;T;T	0.59638	2.35;2.39;2.32;0.25;0.38	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.69351	0.3101	L	0.32530	0.975	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.994	D;D;D	0.77557	0.99;0.987;0.97	T	0.71269	-0.4643	10	0.87932	D	0	-21.5401	19.9705	0.97284	0.0:1.0:0.0:0.0	.	24;24;24	Q9NQV6-4;G3XAE5;Q9NQV6	.;.;PRD10_HUMAN	L	24	ENSP00000351686:V24L;ENSP00000354118:V24L;ENSP00000431262:V24L;ENSP00000432093:V24L;ENSP00000436681:V24L	ENSP00000351686:V24L	V	-	1	0	PRDM10	129333015	1.000000	0.71417	1.000000	0.80357	0.510000	0.34073	7.487000	0.81328	2.728000	0.93425	0.655000	0.94253	GTG	PRDM10	-	NULL	ENSG00000170325		0.498	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM10	HGNC	protein_coding	OTTHUMT00000386076.1	50	0.00	0	C	NM_199437	Missense_Mutation	129827805	129827805	-1	no_errors	ENST00000358825	ensembl	human	known	69_37n	missense	69	23.08	21	SNP	1.000	A
RASGRF1	5923	genome.wustl.edu	37	15	79298697	79298697	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr15:79298697G>A	ENST00000419573.3	-	15	2219	c.1945C>T	c.(1945-1947)Cgc>Tgc	p.R649C	RASGRF1_ENST00000558480.2_Missense_Mutation_p.R636C|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000394745.3_5'Flank	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	649	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTGGCGTAGCGGATCTGCAGC	0.562																																						dbGAP											0													113.0	95.0	101.0					15																	79298697		2196	4293	6489	-	-	-	SO:0001583	missense	0			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.1945C>T	15.37:g.79298697G>A	ENSP00000405963:p.Arg649Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.R649C	ENST00000419573.3	37	c.1945	CCDS10309.1	15	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579122	0.86645	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.53206	0.63	4.48	4.48	0.54585	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.69557	0.3124	M	0.80183	2.485	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;0.999	T	0.74925	-0.3498	10	0.87932	D	0	.	14.6862	0.69052	0.0:0.0:1.0:0.0	.	45;649;636;649;636	B7Z6Z6;A8K270;Q8IUU5;Q13972;F8VPA5	.;.;.;RGRF1_HUMAN;.	C	649;636	ENSP00000405963:R649C	ENSP00000378224:R636C	R	-	1	0	RASGRF1	77085752	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.526000	0.81920	2.335000	0.79485	0.591000	0.81541	CGC	RASGRF1	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N	ENSG00000058335		0.562	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	HGNC	protein_coding	OTTHUMT00000291371.3	99	0.00	0	G	NM_002891		79298697	79298697	-1	no_errors	ENST00000419573	ensembl	human	known	69_37n	missense	101	44.32	82	SNP	1.000	A
RBBP5	5929	genome.wustl.edu	37	1	205069184	205069184	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr1:205069184C>T	ENST00000264515.6	-	8	902	c.761G>A	c.(760-762)tGg>tAg	p.W254*	RBBP5_ENST00000367164.1_Nonsense_Mutation_p.W254*	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	254					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			ACATTTCTTCCATGGGGTCCT	0.488																																						dbGAP											0													86.0	84.0	85.0					1																	205069184		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"""WD repeat domain containing"""	9888	protein-coding gene	gene with protein product	"""SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"""	600697	"""retinoblastoma-binding protein 5"""			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.761G>A	1.37:g.205069184C>T	ENSP00000264515:p.Trp254*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K272|Q7Z6D8|Q8NDZ7	Nonsense_Mutation	SNP	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.W254*	ENST00000264515.6	37	c.761	CCDS30983.1	1	.	.	.	.	.	.	.	.	.	.	C	38	7.044878	0.98025	.	.	ENSG00000117222	ENST00000264515;ENST00000367164	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1899	0.98228	0.0:1.0:0.0:0.0	.	.	.	.	X	254	.	ENSP00000264515:W254X	W	-	2	0	RBBP5	203335807	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.699000	0.84547	2.873000	0.98535	0.563000	0.77884	TGG	RBBP5	-	smart_WD40_repeat	ENSG00000117222		0.488	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP5	HGNC	protein_coding	OTTHUMT00000090077.1	125	0.00	0	C	NM_005057		205069184	205069184	-1	no_errors	ENST00000264515	ensembl	human	known	69_37n	nonsense	150	13.29	23	SNP	1.000	T
RNF113A	7737	genome.wustl.edu	37	X	119004955	119004955	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chrX:119004955T>C	ENST00000371442.2	-	1	836	c.622A>G	c.(622-624)Act>Gct	p.T208A	NDUFA1_ENST00000371437.4_5'Flank	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	208							zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						CAGAAGCCAGTCTCTTTGTAG	0.572																																						dbGAP											0													90.0	86.0	87.0					X																	119004955		2203	4300	6503	-	-	-	SO:0001583	missense	0			X98253	CCDS14589.1	Xq24	2013-10-22	2005-03-22	2005-03-22	ENSG00000125352	ENSG00000125352		"""RING-type (C3HC4) zinc fingers"""	12974	protein-coding gene	gene with protein product			"""zinc finger protein 183 (RING finger, C3HC4 type)"""	ZNF183		9224902	Standard	NM_006978		Approved	RNF113, Cwc24	uc004esb.3	O15541	OTTHUMG00000022283	ENST00000371442.2:c.622A>G	X.37:g.119004955T>C	ENSP00000360497:p.Thr208Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBR7	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.T208A	ENST00000371442.2	37	c.622	CCDS14589.1	X	.	.	.	.	.	.	.	.	.	.	T	26.4	4.736097	0.89482	.	.	ENSG00000125352	ENST00000371442	T	0.53640	0.61	5.56	5.56	0.83823	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.78329	0.4266	H	0.96833	3.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85183	0.1005	10	0.87932	D	0	-12.2248	12.5898	0.56437	0.0:0.0:0.0:1.0	.	208	O15541	R113A_HUMAN	A	208	ENSP00000360497:T208A	ENSP00000360497:T208A	T	-	1	0	RNF113A	118888983	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.703000	0.84585	1.880000	0.54463	0.486000	0.48141	ACT	RNF113A	-	pfam_Znf_CCCH,smart_Znf_CCCH	ENSG00000125352		0.572	RNF113A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF113A	HGNC	protein_coding	OTTHUMT00000058071.1	52	0.00	0	T	NM_006978		119004955	119004955	-1	no_errors	ENST00000371442	ensembl	human	known	69_37n	missense	81	11.96	11	SNP	1.000	C
RNF135	84282	genome.wustl.edu	37	17	29325889	29325889	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr17:29325889G>T	ENST00000328381.5	+	5	1852	c.979G>T	c.(979-981)Gtt>Ttt	p.V327F	RNF135_ENST00000443677.2_3'UTR|RNF135_ENST00000324689.4_3'UTR|RNF135_ENST00000535306.2_3'UTR	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	327	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-beta production (GO:0032728)|protein ubiquitination (GO:0016567)|regulation of innate immune response (GO:0045088)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				CCACTGGGCAGTTGGGGTGGC	0.552																																						dbGAP											1	Unknown(1)	central_nervous_system(1)											44.0	42.0	43.0					17																	29325889		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ496729	CCDS11262.1, CCDS11263.1, CCDS54104.1	17q11.2	2013-01-09			ENSG00000181481	ENSG00000181481		"""RING-type (C3HC4) zinc fingers"""	21158	protein-coding gene	gene with protein product	"""riplet"""	611358				11468690, 19017631	Standard	NM_001184992		Approved	MGC13061	uc002hfz.3	Q8IUD6	OTTHUMG00000132867	ENST00000328381.5:c.979G>T	17.37:g.29325889G>T	ENSP00000328340:p.Val327Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVM5|B2R7G9|B6ZLM5|F5GX60|Q9BSE9	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.V327F	ENST00000328381.5	37	c.979	CCDS11262.1	17	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775823	0.70107	.	.	ENSG00000181481	ENST00000328381;ENST00000535605	T	0.66995	-0.24	5.21	2.02	0.26589	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.359745	0.20369	N	0.093689	T	0.79964	0.4537	M	0.86651	2.83	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	T	0.78927	-0.2011	10	0.56958	D	0.05	-4.1241	8.0285	0.30451	0.3412:0.0:0.6588:0.0	.	327	Q8IUD6	RN135_HUMAN	F	327;146	ENSP00000328340:V327F	ENSP00000328340:V327F	V	+	1	0	RNF135	26350015	0.916000	0.31088	0.986000	0.45419	0.981000	0.71138	1.185000	0.32065	0.688000	0.31529	0.655000	0.94253	GTT	RNF135	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000181481		0.552	RNF135-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RNF135	HGNC	protein_coding	OTTHUMT00000256342.3	78	0.00	0	G	NM_032322		29325889	29325889	+1	no_errors	ENST00000328381	ensembl	human	known	69_37n	missense	51	16.39	10	SNP	0.957	T
ROBO2	6092	genome.wustl.edu	37	3	77684051	77684051	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr3:77684051G>A	ENST00000461745.1	+	24	4691	c.3791G>A	c.(3790-3792)cGa>cAa	p.R1264Q	ROBO2_ENST00000487694.3_Missense_Mutation_p.R1280Q|ROBO2_ENST00000332191.8_Missense_Mutation_p.R1325Q	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1264					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CAAAGACCTCGACCTACCAGC	0.458																																						dbGAP											0													145.0	142.0	143.0					3																	77684051		1869	4111	5980	-	-	-	SO:0001583	missense	0			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.3791G>A	3.37:g.77684051G>A	ENSP00000417164:p.Arg1264Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R1264Q	ENST00000461745.1	37	c.3791	CCDS43109.1	3	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357939	0.82243	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000461745;ENST00000332191	T;T;T	0.72167	-0.09;-0.06;-0.63	5.54	4.66	0.58398	.	0.000000	0.38164	N	0.001793	T	0.54581	0.1867	L	0.34521	1.04	0.19575	N	0.999968	B;P;B	0.50443	0.327;0.935;0.327	B;B;B	0.33339	0.023;0.162;0.023	T	0.72510	-0.4271	9	0.62326	D	0.03	.	13.8016	0.63204	0.0735:0.0:0.9265:0.0	.	1280;1325;1264	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	Q	1280;1280;1264;1325	ENSP00000417335:R1280Q;ENSP00000417164:R1264Q;ENSP00000327536:R1325Q	ENSP00000327536:R1325Q	R	+	2	0	ROBO2	77766741	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.913000	0.75759	2.607000	0.88179	0.650000	0.86243	CGA	ROBO2	-	NULL	ENSG00000185008		0.458	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	HGNC	protein_coding	OTTHUMT00000352600.2	220	0.00	0	G	XM_031246		77684051	77684051	+1	no_errors	ENST00000461745	ensembl	human	known	69_37n	missense	153	14.04	25	SNP	1.000	A
RUNX1T1	862	genome.wustl.edu	37	8	93029469	93029469	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr8:93029469A>G	ENST00000523629.1	-	3	665	c.211T>C	c.(211-213)Ttt>Ctt	p.F71L	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.F44L|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.F34L|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.F34L|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.F34L|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.F71L|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.F82L|RUNX1T1_ENST00000522163.1_5'Flank|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.F34L|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.F44L	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	71					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GTCGGTGTAAATGAACTGGTT	0.398																																						dbGAP											0													185.0	157.0	166.0					8																	93029469		2203	4300	6503	-	-	-	SO:0001583	missense	0			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.211T>C	8.37:g.93029469A>G	ENSP00000428543:p.Phe71Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8	p.F82L	ENST00000523629.1	37	c.244	CCDS6256.1	8	.	.	.	.	.	.	.	.	.	.	A	17.94	3.510924	0.64522	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844;ENST00000521553;ENST00000518992;ENST00000521054;ENST00000519847;ENST00000517792;ENST00000522467;ENST00000517919;ENST00000521733;ENST00000520556;ENST00000521319;ENST00000520583;ENST00000523168;ENST00000518823;ENST00000518317;ENST00000521375;ENST00000520974;ENST00000518832	T;T;T;T;T;T;T;T;T;T;T	0.46451	1.46;1.48;1.46;1.48;1.48;1.48;1.44;1.48;0.92;0.87;1.52	5.66	5.66	0.87406	.	0.045272	0.85682	D	0.000000	T	0.40815	0.1132	L	0.54323	1.7	0.58432	D	0.999999	B;P;B;P;B	0.45078	0.185;0.85;0.003;0.754;0.006	B;B;B;B;B	0.39935	0.077;0.314;0.011;0.314;0.024	T	0.28713	-1.0035	10	0.34782	T	0.22	-10.9182	16.1988	0.82053	1.0:0.0:0.0:0.0	.	82;82;44;71;44	E7EPN4;B7Z4P4;B2R6I9;Q06455;Q06455-2	.;.;.;MTG8_HUMAN;.	L	71;44;71;34;34;34;82;44;34;71;34;71;34;71;71;44;34;34;71;71;44;44;71;71;34	ENSP00000428543:F71L;ENSP00000379520:F44L;ENSP00000265814:F71L;ENSP00000353504:F34L;ENSP00000390137:F34L;ENSP00000428742:F34L;ENSP00000402257:F82L;ENSP00000430728:F44L;ENSP00000429728:F34L;ENSP00000431094:F71L;ENSP00000427763:F34L	ENSP00000265814:F71L	F	-	1	0	RUNX1T1	93098645	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	9.244000	0.95423	2.284000	0.76573	0.528000	0.53228	TTT	RUNX1T1	-	NULL	ENSG00000079102		0.398	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUNX1T1	HGNC	protein_coding	OTTHUMT00000377045.3	322	0.31	1	A	NM_004349, NM_175635		93029469	93029469	-1	no_errors	ENST00000436581	ensembl	human	known	69_37n	missense	214	11.57	28	SNP	1.000	G
SCAF8	22828	genome.wustl.edu	37	6	155154411	155154411	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr6:155154411A>T	ENST00000367178.3	+	20	4274	c.3698A>T	c.(3697-3699)gAt>gTt	p.D1233V	SCAF8_ENST00000417268.1_Missense_Mutation_p.D1233V|SCAF8_ENST00000367186.4_Missense_Mutation_p.D1299V|TIAM2_ENST00000461783.3_5'UTR	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	1233					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						GTACAGAATGATCCTGAACTT	0.408																																						dbGAP											0													77.0	75.0	76.0					6																	155154411		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.3698A>T	6.37:g.155154411A>T	ENSP00000356146:p.Asp1233Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom	p.D1299V	ENST00000367178.3	37	c.3896	CCDS5247.1	6	.	.	.	.	.	.	.	.	.	.	A	14.56	2.573107	0.45902	.	.	ENSG00000213079;ENSG00000213079;ENSG00000213079;ENSG00000146426	ENST00000367178;ENST00000417268;ENST00000367186;ENST00000528928	T;T;T	0.54071	0.64;0.64;0.59	5.62	5.62	0.85841	.	0.257051	0.31177	U	0.008114	T	0.50017	0.1591	L	0.29908	0.895	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.993	P;P;P	0.60789	0.879;0.879;0.796	T	0.58120	-0.7692	10	0.87932	D	0	.	15.8082	0.78531	1.0:0.0:0.0:0.0	.	1278;1299;1233	B7Z876;B7Z888;Q9UPN6	.;.;SCAF8_HUMAN	V	1233;1233;1299;194	ENSP00000356146:D1233V;ENSP00000413098:D1233V;ENSP00000356154:D1299V	ENSP00000356146:D1233V	D	+	2	0	TIAM2;SCAF8	155196103	1.000000	0.71417	0.977000	0.42913	0.994000	0.84299	5.460000	0.66691	2.137000	0.66172	0.533000	0.62120	GAT	SCAF8	-	NULL	ENSG00000213079		0.408	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF8	HGNC	protein_coding	OTTHUMT00000042798.1	121	0.00	0	A	NM_014892		155154411	155154411	+1	no_errors	ENST00000367186	ensembl	human	known	69_37n	missense	64	12.33	9	SNP	1.000	T
SLC35B4	84912	genome.wustl.edu	37	7	133986554	133986554	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr7:133986554C>T	ENST00000378509.4	-	6	745	c.446G>A	c.(445-447)aGt>aAt	p.S149N		NM_032826.4	NP_116215.1	Q969S0	S35B4_HUMAN	solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4	149					carbohydrate transport (GO:0008643)|regulation of gluconeogenesis (GO:0006111)|transmembrane transport (GO:0055085)|UDP-N-acetylglucosamine transport (GO:0015788)|UDP-xylose transport (GO:0015790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462)|UDP-xylose transmembrane transporter activity (GO:0005464)			large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						ATCATTCTCACTCAAGCTGGA	0.398																																						dbGAP											0													130.0	135.0	133.0					7																	133986554		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB052892	CCDS34756.1	7q33	2013-07-17	2013-07-17		ENSG00000205060	ENSG00000205060		"""Solute carriers"""	20584	protein-coding gene	gene with protein product		610923	"""solute carrier family 35, member B4"""				Standard	NM_032826		Approved	FLJ14697, YEA4	uc003vrn.3	Q969S0	OTTHUMG00000155321	ENST00000378509.4:c.446G>A	7.37:g.133986554C>T	ENSP00000367770:p.Ser149Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1P3|A6NNS4|Q53GQ7|Q8TCU7|Q96K33	Missense_Mutation	SNP	pfam_UAA,pfam_DUF250	p.S149N	ENST00000378509.4	37	c.446	CCDS34756.1	7	.	.	.	.	.	.	.	.	.	.	C	11.51	1.660229	0.29515	.	.	ENSG00000205060	ENST00000378509	T	0.29142	1.58	6.07	1.75	0.24633	.	0.585910	0.20761	N	0.086176	T	0.16085	0.0387	N	0.25647	0.755	0.30221	N	0.796797	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.19192	-1.0313	10	0.15952	T	0.53	-11.8538	5.0943	0.14725	0.0:0.4966:0.1511:0.3523	.	149;149;149	Q969S0-3;Q969S0-2;Q969S0	.;.;S35B4_HUMAN	N	149	ENSP00000367770:S149N	ENSP00000367770:S149N	S	-	2	0	SLC35B4	133637094	0.000000	0.05858	0.158000	0.22627	0.997000	0.91878	0.083000	0.14871	0.450000	0.26774	0.585000	0.79938	AGT	SLC35B4	-	pfam_UAA	ENSG00000205060		0.398	SLC35B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35B4	HGNC	protein_coding	OTTHUMT00000339444.2	72	0.00	0	C	NM_032826		133986554	133986554	-1	no_errors	ENST00000378509	ensembl	human	known	69_37n	missense	40	16.33	8	SNP	0.770	T
SSTR4	6754	genome.wustl.edu	37	20	23016933	23016933	+	Silent	SNP	C	C	T			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr20:23016933C>T	ENST00000255008.3	+	1	877	c.813C>T	c.(811-813)tgC>tgT	p.C271C	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	271					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TTGTGCTCTGCTGGATGCCTT	0.602																																					Esophageal Squamous(15;850 1104 16640)	dbGAP											0													205.0	212.0	210.0					20																	23016933		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.813C>T	20.37:g.23016933C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RM1|Q17RM3|Q9UIY1	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Somatstn_rcpt_4,prints_7TM_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_Neuropept_W_rcpt,prints_NPY_rcpt,prints_Somatstn_rcpt_1	p.C271	ENST00000255008.3	37	c.813	CCDS42856.1	20																																																																																			SSTR4	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Neuropept_W_rcpt	ENSG00000132671		0.602	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR4	HGNC	protein_coding	OTTHUMT00000078308.1	94	0.00	0	C			23016933	23016933	+1	no_errors	ENST00000255008	ensembl	human	known	69_37n	silent	66	10.81	8	SNP	1.000	T
TBK1	29110	genome.wustl.edu	37	12	64878170	64878170	+	Silent	SNP	C	C	G			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr12:64878170C>G	ENST00000331710.5	+	9	1419	c.1080C>G	c.(1078-1080)gtC>gtG	p.V360V		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	360	Ubiquitin-like.				defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		GACGCTTAGTCTTAGAACCTG	0.368																																						dbGAP											0													60.0	61.0	61.0					12																	64878170		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.1080C>G	12.37:g.64878170C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4S4|Q8IYV3|Q9NUJ5	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.V360	ENST00000331710.5	37	c.1080	CCDS8968.1	12																																																																																			TBK1	-	NULL	ENSG00000183735		0.368	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBK1	HGNC	protein_coding	OTTHUMT00000401130.1	111	0.00	0	C	NM_013254		64878170	64878170	+1	no_errors	ENST00000331710	ensembl	human	known	69_37n	silent	112	19.42	27	SNP	0.951	G
SVOP	55530	genome.wustl.edu	37	12	109311868	109311868	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr12:109311868C>T	ENST00000299134.5	-	12	1104	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	ion transmembrane transporter activity (GO:0015075)			breast(2)|lung(4)	6						AATAAACGCTCTTGCAATGAA	0.488																																						dbGAP											0													124.0	118.0	120.0					12																	109311868		1911	4101	6012	-	-	-	SO:0001583	missense	0			BC033587	CCDS73520.1	12q24.11	2011-07-12				ENSG00000166111			25417	protein-coding gene	gene with protein product		611699					Standard	NM_018711		Approved	DKFZp761H039	uc010sxh.1	Q8N4V2		ENST00000299134.5:c.1105G>A	12.37:g.109311868C>T	ENSP00000299134:p.Glu369Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NPW5	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.E369K	ENST00000299134.5	37	c.1105		12	.	.	.	.	.	.	.	.	.	.	C	33	5.290931	0.95546	.	.	ENSG00000166111	ENST00000299134	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	T	0.59348	0.2187	L	0.35288	1.05	.	.	.	.	.	.	.	.	.	T	0.57189	-0.7854	4	.	.	.	-19.2829	18.0491	0.89342	0.0:1.0:0.0:0.0	.	.	.	.	K	369	.	.	E	-	1	0	SVOP	107835997	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.062000	0.76706	2.502000	0.84385	0.557000	0.71058	GAG	SVOP	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000166111		0.488	SVOP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic	protein_coding	SVOP	HGNC	protein_coding	OTTHUMT00000403982.1	263	0.00	0	C	NM_018711		109311868	109311868	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000299134	ensembl	human	known	69_37n	missense	204	11.30	26	SNP	1.000	T
TC2N	123036	genome.wustl.edu	37	14	92249447	92249447	+	Silent	SNP	A	A	T			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr14:92249447A>T	ENST00000435962.2	-	12	1793	c.1470T>A	c.(1468-1470)tcT>tcA	p.S490S	TC2N_ENST00000556018.1_Silent_p.S426S|TC2N_ENST00000340892.5_Silent_p.S490S|TC2N_ENST00000360594.5_Silent_p.S490S	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	490					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		GAAGTCTTCAAGATGGATTTA	0.333																																						dbGAP											0													199.0	184.0	189.0					14																	92249447		2203	4296	6499	-	-	-	SO:0001819	synonymous_variant	0			AA243837	CCDS9897.1, CCDS73679.1	14q32.12	2007-10-17	2007-08-17	2007-08-17		ENSG00000165929			19859	protein-coding gene	gene with protein product	"""C2 calcium-dependent domain containing 1"""		"""chromosome 14 open reading frame 47"", ""membrane targeting (tandem) C2 domain containing 1"""	C14orf47, MTAC2D1		11526914	Standard	NM_001128596		Approved	FLJ36557, Tac2-N, C2CD1	uc001xzt.4	Q8N9U0		ENST00000435962.2:c.1470T>A	14.37:g.92249447A>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.S490	ENST00000435962.2	37	c.1470	CCDS9897.1	14																																																																																			TC2N	-	superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000165929		0.333	TC2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TC2N	HGNC	protein_coding	OTTHUMT00000411778.1	209	0.48	1	A	NM_152332		92249447	92249447	-1	no_errors	ENST00000340892	ensembl	human	known	69_37n	silent	175	13.37	27	SNP	0.993	T
TNR	7143	genome.wustl.edu	37	1	175348868	175348868	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr1:175348868C>T	ENST00000367674.2	-	9	2491	c.1783G>A	c.(1783-1785)Gat>Aat	p.D595N	TNR_ENST00000263525.2_Missense_Mutation_p.D595N			Q92752	TENR_HUMAN	tenascin R	595	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TTGGGGGCATCGATCTCTAAA	0.463																																						dbGAP											0													79.0	61.0	67.0					1																	175348868		2203	4300	6503	-	-	-	SO:0001583	missense	0			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1783G>A	1.37:g.175348868C>T	ENSP00000356646:p.Asp595Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3	p.D595N	ENST00000367674.2	37	c.1783	CCDS1318.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.119576	0.94385	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.55234	0.53;0.53	5.59	5.59	0.84812	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.78375	0.4273	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81417	-0.0942	10	0.59425	D	0.04	.	19.1795	0.93617	0.0:1.0:0.0:0.0	.	595	Q92752	TENR_HUMAN	N	595	ENSP00000356646:D595N;ENSP00000263525:D595N	ENSP00000263525:D595N	D	-	1	0	TNR	173615491	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	6.797000	0.75150	2.619000	0.88677	0.655000	0.94253	GAT	TNR	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000116147		0.463	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	HGNC	protein_coding	OTTHUMT00000084414.4	72	0.00	0	C	NM_003285		175348868	175348868	-1	no_errors	ENST00000263525	ensembl	human	known	69_37n	missense	100	11.50	13	SNP	1.000	T
TSR1	55720	genome.wustl.edu	37	17	2235542	2235542	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr17:2235542C>G	ENST00000301364.5	-	8	2496	c.1417G>C	c.(1417-1419)Gag>Cag	p.E473Q	SNORD91A_ENST00000390861.1_RNA	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	473	Glu-rich.				ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						TTATATTTCTCCAACATTTTT	0.403																																						dbGAP											0													135.0	133.0	134.0					17																	2235542		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"""TSR1, 20S rRNA accumulation, homolog (yeast)"""			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.1417G>C	17.37:g.2235542C>G	ENSP00000301364:p.Glu473Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WUY5|Q9NVT0|Q9P2E6	Missense_Mutation	SNP	pfam_BMS1_TSR1_C,pfam_AARP2CN,superfamily_Transl_elong_init/rib_B-barrel,smart_AARP2CN	p.E473Q	ENST00000301364.5	37	c.1417	CCDS32525.1	17	.	.	.	.	.	.	.	.	.	.	C	12.28	1.891932	0.33442	.	.	ENSG00000167721	ENST00000301364	T	0.13778	2.56	5.27	5.27	0.74061	.	0.241692	0.48286	D	0.000186	T	0.12178	0.0296	L	0.35854	1.095	0.38736	D	0.953772	B	0.25563	0.129	B	0.22753	0.041	T	0.10474	-1.0628	10	0.30854	T	0.27	-17.7631	13.5902	0.61955	0.0:0.8444:0.1556:0.0	.	473	Q2NL82	TSR1_HUMAN	Q	473	ENSP00000301364:E473Q	ENSP00000301364:E473Q	E	-	1	0	TSR1	2182292	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.533000	0.45667	2.488000	0.83962	0.555000	0.69702	GAG	TSR1	-	NULL	ENSG00000167721		0.403	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TSR1	HGNC	protein_coding	OTTHUMT00000438180.2	156	0.00	0	C	NM_018128		2235542	2235542	-1	no_errors	ENST00000301364	ensembl	human	known	69_37n	missense	182	12.08	25	SNP	1.000	G
ZNF724P	440519	genome.wustl.edu	37	19	23406636	23406636	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0AM-01A-11W-A050-09	TCGA-AN-A0AM-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a238f21f-ca46-4759-b5b7-f8c3810dfbdb	d2910522-0610-4cef-a499-7bb1d7cb7c84	g.chr19:23406636delC	ENST00000418100.1	-	4	528	c.411delG	c.(409-411)ttgfs	p.L137fs				A8MTY0	ZN724_HUMAN	zinc finger protein 724, pseudogene	137					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L137F(2)		endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						GGGTAGTTGTCAAACACTGGT	0.303																																						dbGAP											2	Substitution - Missense(2)	endometrium(2)																																								-	-	-	SO:0001589	frameshift_variant	0					19p12	2014-02-14	2010-08-03		ENSG00000196081	ENSG00000196081			32460	pseudogene	pseudogene			"""zinc finger protein 724 pseudogene"", ""zinc finger protein 724 (pseudogene)"""				Standard	NR_045525		Approved		uc021uru.1	A8MTY0	OTTHUMG00000183231	ENST00000418100.1:c.411delG	19.37:g.23406636delC	ENSP00000413411:p.Leu137fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	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.T138fs	ENST00000418100.1	37	c.411		19																																																																																			ZNF724P	-	NULL	ENSG00000196081		0.303	ZNF724P-001	NOVEL	basic|appris_principal	protein_coding	ZNF724P	HGNC	protein_coding	OTTHUMT00000465743.1	119	0.00	0	C			23406636	23406636	-1	no_errors	ENST00000418100	ensembl	human	known	69_37n	frame_shift_del	15	11.76	2	DEL	0.000	-
