#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_ORegAnno_bin	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
AMY2B	280	genome.wustl.edu	37	1	104116891	104116891	+	Silent	SNP	C	C	T			TCGA-A2-A0CK-01A-11D-A228-09	TCGA-A2-A0CK-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	41fd0980-b541-40b8-9aae-3f47a9842486	b09f8ac6-5d0e-4e14-9f9e-ceafc44cfaea	g.chr1:104116891C>T	ENST00000361355.4	+	7	1370	c.754C>T	c.(754-756)Ctg>Ttg	p.L252L	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	252					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GGTAATTGATCTGGGTGGTGA	0.343																																						dbGAP											0													151.0	158.0	156.0					1																	104116891		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.754C>T	1.37:g.104116891C>T			B3KTI1|B3KXB7|D3DT76|Q9UBH3	Silent	SNP	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.L252	ENST00000361355.4	37	c.754	CCDS782.1	1																																																																																			AMY2B	-	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,prints_Alpha_amylase	ENSG00000240038		0.343	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY2B	HGNC	protein_coding	OTTHUMT00000030318.1	128	0.00	0	C	NM_020978		104116891	104116891	+1	no_errors	ENST00000361355	ensembl	human	known	69_37n	silent	107	15.75	20	SNP	1.000	T
C5AR1	728	genome.wustl.edu	37	19	47823398	47823398	+	Missense_Mutation	SNP	G	G	A	rs201817569		TCGA-A2-A0CK-01A-11D-A228-09	TCGA-A2-A0CK-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	41fd0980-b541-40b8-9aae-3f47a9842486	b09f8ac6-5d0e-4e14-9f9e-ceafc44cfaea	g.chr19:47823398G>A	ENST00000355085.3	+	2	386	c.364G>A	c.(364-366)Gcc>Acc	p.A122T		NM_001736.3	NP_001727.1	P21730	C5AR1_HUMAN	complement component 5a receptor 1	122					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|cell proliferation in hindbrain (GO:0021534)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|complement component C5a signaling pathway (GO:0038178)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ regeneration (GO:0031100)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)|complement component C5a receptor activity (GO:0004878)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CAACATGTACGCCAGCATCCT	0.607																																						dbGAP											0													75.0	70.0	72.0					19																	47823398		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33063.1	19q13.3-q13.4	2012-08-10	2006-02-09	2006-02-09		ENSG00000197405		"""CD molecules"", ""Complement system"", ""GPCR / Class A : Complement component receptors"""	1338	protein-coding gene	gene with protein product		113995	"""complement component 5 receptor 1 (C5a ligand)"""	C5R1		1612600	Standard	NM_001736		Approved	C5A, C5AR, CD88	uc002pgj.1	P21730		ENST00000355085.3:c.364G>A	19.37:g.47823398G>A	ENSP00000347197:p.Ala122Thr			Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_C5A_anaphtx_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Brdyknn_rcpt,prints_Frt_met_rcpt	p.A122T	ENST00000355085.3	37	c.364	CCDS33063.1	19	.	.	.	.	.	.	.	.	.	.	G	19.91	3.914742	0.72983	.	.	ENSG00000197405	ENST00000355085	T	0.76060	-0.99	4.51	1.07	0.20283	GPCR, rhodopsin-like superfamily (1);	0.222920	0.38720	U	0.001584	T	0.68869	0.3048	L	0.38692	1.165	0.35824	D	0.824812	D	0.55385	0.971	P	0.56474	0.799	T	0.67417	-0.5676	10	0.19147	T	0.46	.	6.2389	0.20778	0.1695:0.0:0.6833:0.1471	.	122	P21730	C5AR_HUMAN	T	122	ENSP00000347197:A122T	ENSP00000347197:A122T	A	+	1	0	C5AR1	52515238	0.056000	0.20664	0.998000	0.56505	0.867000	0.49689	0.277000	0.18734	0.333000	0.23563	0.297000	0.19635	GCC	C5AR1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_C5A_anaphtx_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Brdyknn_rcpt,prints_Frt_met_rcpt	ENSG00000197405		0.607	C5AR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C5AR1	HGNC	protein_coding	OTTHUMT00000466925.1	37	0.00	0	G	NM_001736		47823398	47823398	+1	no_errors	ENST00000355085	ensembl	human	known	69_37n	missense	41	38.81	26	SNP	0.997	A
CACNG5	27091	genome.wustl.edu	37	17	64880774	64880774	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0CK-01A-11D-A228-09	TCGA-A2-A0CK-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	41fd0980-b541-40b8-9aae-3f47a9842486	b09f8ac6-5d0e-4e14-9f9e-ceafc44cfaea	g.chr17:64880774C>T	ENST00000533854.1	+	5	803	c.566C>T	c.(565-567)aCg>aTg	p.T189M	CACNG5_ENST00000169565.3_Missense_Mutation_p.T189M|CACNG5_ENST00000307139.3_Missense_Mutation_p.T189M			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	189					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			TTCCTTTTAACGGAGGTAAAG	0.552																																						dbGAP											0													118.0	106.0	110.0					17																	64880774		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"""Calcium channel subunits"""	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.566C>T	17.37:g.64880774C>T	ENSP00000436836:p.Thr189Met		A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su	p.T189M	ENST00000533854.1	37	c.566	CCDS11665.1	17	.	.	.	.	.	.	.	.	.	.	C	11.36	1.616342	0.28801	.	.	ENSG00000075429	ENST00000533854;ENST00000307139;ENST00000169565	D;D;D	0.89681	-2.55;-2.55;-2.55	3.86	2.9	0.33743	.	0.000000	0.85682	D	0.000000	T	0.81616	0.4860	L	0.37850	1.14	0.50039	D	0.999841	B	0.19073	0.033	B	0.20955	0.032	T	0.77338	-0.2625	10	0.59425	D	0.04	-19.2681	6.8126	0.23812	0.1741:0.733:0.0:0.0929	.	189	Q9UF02	CCG5_HUMAN	M	189	ENSP00000436836:T189M;ENSP00000303092:T189M;ENSP00000169565:T189M	ENSP00000169565:T189M	T	+	2	0	CACNG5	62311236	0.996000	0.38824	0.073000	0.20177	0.596000	0.36781	3.356000	0.52269	1.233000	0.43693	0.609000	0.83330	ACG	CACNG5	-	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu	ENSG00000075429		0.552	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG5	HGNC	protein_coding	OTTHUMT00000389882.1	70	0.00	0	C	NM_014404, NM_145811		64880774	64880774	+1	no_errors	ENST00000169565	ensembl	human	known	69_37n	missense	83	28.45	33	SNP	0.985	T
CACNG8	59283	genome.wustl.edu	37	19	54466634	54466634	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0CK-01A-11D-A228-09	TCGA-A2-A0CK-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	41fd0980-b541-40b8-9aae-3f47a9842486	b09f8ac6-5d0e-4e14-9f9e-ceafc44cfaea	g.chr19:54466634G>A	ENST00000270458.2	+	1	341	c.238G>A	c.(238-240)Ggc>Agc	p.G80S		NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	80					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		GAAGGACCCCGGCGGCCTCAC	0.756																																						dbGAP											0													8.0	9.0	9.0					19																	54466634		2154	4195	6349	-	-	-	SO:0001583	missense	0			AF288388	CCDS33104.1	19q13.4	2008-05-02			ENSG00000142408	ENSG00000142408		"""Calcium channel subunits"""	13628	protein-coding gene	gene with protein product		606900				11170751	Standard	NM_031895		Approved		uc002qcs.2	Q8WXS5	OTTHUMG00000064908	ENST00000270458.2:c.238G>A	19.37:g.54466634G>A	ENSP00000270458:p.Gly80Ser		Q9BXT0|Q9BY23	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g8su,prints_Claudin	p.G80S	ENST00000270458.2	37	c.238	CCDS33104.1	19	.	.	.	.	.	.	.	.	.	.	G	33	5.260216	0.95368	.	.	ENSG00000142408	ENST00000270458	T	0.48201	0.82	3.98	3.98	0.46160	.	0.000000	0.85682	U	0.000000	T	0.56659	0.2000	L	0.40543	1.245	0.35898	D	0.830188	D	0.69078	0.997	D	0.65323	0.934	T	0.67546	-0.5643	9	0.56958	D	0.05	-10.9152	13.9147	0.63890	0.0:0.0:1.0:0.0	.	80	Q8WXS5	CCG8_HUMAN	S	80	ENSP00000270458:G80S	ENSP00000270458:G80S	G	+	1	0	CACNG8	59158446	1.000000	0.71417	0.856000	0.33681	0.916000	0.54674	5.865000	0.69583	1.957000	0.56846	0.297000	0.19635	GGC	CACNG8	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000142408		0.756	CACNG8-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	CACNG8	HGNC	protein_coding	OTTHUMT00000139361.3	17	0.00	0	G			54466634	54466634	+1	no_errors	ENST00000270458	ensembl	human	known	69_37n	missense	6	60.00	9	SNP	1.000	A
CDH1	999	genome.wustl.edu	37	16	68844244	68844244	+	Splice_Site	SNP	G	G	T			TCGA-A2-A0CK-01A-11D-A228-09	TCGA-A2-A0CK-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	41fd0980-b541-40b8-9aae-3f47a9842486	b09f8ac6-5d0e-4e14-9f9e-ceafc44cfaea	g.chr16:68844244G>T	ENST00000261769.5	+	6	1023	c.832G>T	c.(832-834)Gga>Tga	p.G278*	CDH1_ENST00000422392.2_Splice_Site_p.G278*|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	278	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(4)|p.G274_P277del(3)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TGCTCTTCCAGGTATATCCAC	0.443			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	7	Unknown(4)|Deletion - In frame(3)	breast(4)|stomach(3)	GRCh37	CM015108|CS020997	CDH1	M|S							89.0	89.0	89.0					16																	68844244		2198	4300	6498	-	-	-	SO:0001630	splice_region_variant	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.832+1G>T	16.37:g.68844244G>T			A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G278*	ENST00000261769.5	37	c.832	CCDS10869.1	16	.	.	.	.	.	.	.	.	.	.	G	35	5.520812	0.96416	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	.	.	.	5.06	5.06	0.68205	.	0.000000	0.49305	D	0.000149	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.5624	0.87910	0.0:0.0:1.0:0.0	.	.	.	.	X	278	.	ENSP00000261769:G278X	G	+	1	0	CDH1	67401745	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	6.861000	0.75478	2.510000	0.84645	0.557000	0.71058	GGA	CDH1	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000039068		0.443	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	25	0.00	0	G	NM_004360	Nonsense_Mutation	68844244	68844244	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	nonsense	8	38.46	5	SNP	1.000	T
CSN1S2AP	286828	genome.wustl.edu	37	4	70939847	70939847	+	RNA	DEL	A	A	-			TCGA-A2-A0CK-01A-11D-A228-09	TCGA-A2-A0CK-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	41fd0980-b541-40b8-9aae-3f47a9842486	b09f8ac6-5d0e-4e14-9f9e-ceafc44cfaea	g.chr4:70939847delA	ENST00000451783.1	+	0	230					NR_003720.1				casein alpha s2-like A, pseudogene																		CTGCTCAAGTATCCACTGAAG	0.284																																						dbGAP											0																																										-	-	-			0			AY154892		4q13.3	2010-10-28	2010-10-28	2010-10-28	ENSG00000234124	ENSG00000234124			20230	pseudogene	pseudogene			"""casein alpha s2-like A"""	CSN1S2A		13679022	Standard	NR_003720		Approved		uc003hez.3		OTTHUMG00000160842		4.37:g.70939847delA				RNA	DEL	-	NULL	ENST00000451783.1	37	NULL		4																																																																																			CSN1S2AP	-	-	ENSG00000234124		0.284	CSN1S2AP-002	KNOWN	basic	processed_transcript	CSN1S2AP	HGNC	pseudogene	OTTHUMT00000362615.1	34	0.00	0	A	XM_379270		70939847	70939847	+1	no_errors	ENST00000451783	ensembl	human	known	69_37n	rna	9	59.09	13	DEL	0.000	-
CDKL2	8999	genome.wustl.edu	37	4	76517381	76517381	+	Intron	SNP	G	G	T			TCGA-A2-A0CK-01A-11D-A228-09	TCGA-A2-A0CK-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	41fd0980-b541-40b8-9aae-3f47a9842486	b09f8ac6-5d0e-4e14-9f9e-ceafc44cfaea	g.chr4:76517381G>T	ENST00000429927.2	-	10	2120				CDKL2_ENST00000307465.4_Missense_Mutation_p.P497T	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)						sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TTTAGTTCAGGCAAACGGACA	0.358																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"""Cyclin-dependent kinases"""	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.1416+4049C>A	4.37:g.76517381G>T			B2R695	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.P497T	ENST00000429927.2	37	c.1489	CCDS3570.1	4	.	.	.	.	.	.	.	.	.	.	G	15.23	2.770807	0.49680	.	.	ENSG00000138769	ENST00000307465	D	0.82619	-1.63	5.13	5.13	0.70059	.	.	.	.	.	D	0.89770	0.6811	.	.	.	0.28910	N	0.892781	D	0.76494	0.999	D	0.64144	0.922	D	0.85029	0.0916	8	0.72032	D	0.01	.	15.9526	0.79855	0.0:0.0:1.0:0.0	.	497	B4DH08	.	T	497	ENSP00000306340:P497T	ENSP00000306340:P497T	P	-	1	0	CDKL2	76736405	1.000000	0.71417	0.998000	0.56505	0.229000	0.25112	5.660000	0.68018	2.824000	0.97209	0.655000	0.94253	CCT	CDKL2	-	NULL	ENSG00000138769		0.358	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKL2	HGNC	protein_coding	OTTHUMT00000252409.2	34	0.00	0	G	NM_003948		76517381	76517381	-1	no_errors	ENST00000307465	ensembl	human	novel	69_37n	missense	34	12.82	5	SNP	1.000	T
DHRS4	10901	genome.wustl.edu	37	14	24422828	24422828	+	5'UTR	SNP	G	G	T			TCGA-A2-A0CK-01A-11D-A228-09	TCGA-A2-A0CK-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	41fd0980-b541-40b8-9aae-3f47a9842486	b09f8ac6-5d0e-4e14-9f9e-ceafc44cfaea	g.chr14:24422828G>T	ENST00000313250.5	+	0	34				DHRS4_ENST00000397073.2_5'Flank|DHRS4_ENST00000558581.1_5'Flank|DHRS4_ENST00000382761.3_5'Flank|DHRS4_ENST00000558263.1_5'Flank|DHRS4_ENST00000421831.1_5'Flank|DHRS4_ENST00000559632.1_5'Flank|DHRS4_ENST00000308178.8_5'Flank|DHRS4-AS1_ENST00000556379.1_RNA|DHRS4_ENST00000397074.3_5'Flank|DHRS4_ENST00000397075.3_5'Flank|DHRS4_ENST00000543741.2_5'Flank	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4						alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	AAGGTAGATGGTGGAGGGGCG	0.716																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	16985	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 2"""	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.-170G>T	14.37:g.24422828G>T			B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	RNA	SNP	-	NULL	ENST00000313250.5	37	NULL	CCDS9605.1	14																																																																																			DHRS4-AS1	-	-	ENSG00000215256		0.716	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS4-AS1	HGNC	protein_coding	OTTHUMT00000071857.3	20	0.00	0	G			24422828	24422828	-1	no_errors	ENST00000553454	ensembl	human	putative	69_37n	rna	11	21.43	3	SNP	0.000	T
DNMT1	1786	genome.wustl.edu	37	19	10265650	10265650	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0CK-01A-11D-A228-09	TCGA-A2-A0CK-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	41fd0980-b541-40b8-9aae-3f47a9842486	b09f8ac6-5d0e-4e14-9f9e-ceafc44cfaea	g.chr19:10265650G>T	ENST00000340748.4	-	19	1762	c.1527C>A	c.(1525-1527)agC>agA	p.S509R	DNMT1_ENST00000359526.4_Missense_Mutation_p.S525R|DNMT1_ENST00000540357.1_Missense_Mutation_p.S509R			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	509	DNA replication foci-targeting sequence. {ECO:0000250}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.	Important for activity. {ECO:0000250}.			cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CCACAATCTTGCTGATGTAGA	0.517																																						dbGAP											0													128.0	107.0	114.0					19																	10265650		2203	4300	6503	-	-	-	SO:0001583	missense	0			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.1527C>A	19.37:g.10265650G>T	ENSP00000345739:p.Ser509Arg		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC	p.S525R	ENST00000340748.4	37	c.1575	CCDS12228.1	19	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692364	0.68271	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.78246	-1.16;-1.16;-1.16	6.08	-1.27	0.09347	DNA (cytosine-5)-methyltransferase 1, replication foci domain (1);	0.000000	0.85682	D	0.000000	D	0.86806	0.6021	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.87050	0.2146	10	0.72032	D	0.01	-13.1705	12.9052	0.58147	0.2869:0.0:0.7131:0.0	.	509;525;509	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	R	525;509;509;377	ENSP00000352516:S525R;ENSP00000440457:S509R;ENSP00000345739:S509R	ENSP00000345739:S509R	S	-	3	2	DNMT1	10126650	1.000000	0.71417	0.997000	0.53966	0.698000	0.40448	0.677000	0.25262	-0.045000	0.13468	-0.302000	0.09304	AGC	DNMT1	-	pirsf_DNA_C5-MeTrfase_1_euk,pfam_Cytosine_MeTrfase1_RFD	ENSG00000130816		0.517	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	DNMT1	HGNC	protein_coding	OTTHUMT00000451166.1	44	0.00	0	G	NM_001379		10265650	10265650	-1	no_errors	ENST00000359526	ensembl	human	known	69_37n	missense	33	10.81	4	SNP	1.000	T
EPHB2	2048	genome.wustl.edu	37	1	23191665	23191665	+	Silent	SNP	G	G	T			TCGA-A2-A0CK-01A-11D-A228-09	TCGA-A2-A0CK-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	41fd0980-b541-40b8-9aae-3f47a9842486	b09f8ac6-5d0e-4e14-9f9e-ceafc44cfaea	g.chr1:23191665G>T	ENST00000400191.3	+	5	1281	c.1263G>T	c.(1261-1263)tcG>tcT	p.S421S	EPHB2_ENST00000544305.1_Silent_p.S421S|EPHB2_ENST00000374630.3_Silent_p.S421S|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Silent_p.S415S|EPHB2_ENST00000374632.3_Silent_p.S421S|MIR4253_ENST00000581187.1_RNA	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	421	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GCCCCTTCTCGCCTCAGTTCG	0.612																																						dbGAP											0													120.0	101.0	107.0					1																	23191665		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.1263G>T	1.37:g.23191665G>T			O43477|Q5T0U6|Q5T0U7|Q5T0U8	Silent	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,pfam_Tyr-kin_ephrin_A/B_rcpt-like,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.S421	ENST00000400191.3	37	c.1263		1																																																																																			EPHB2	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000133216		0.612	EPHB2-001	KNOWN	basic	protein_coding	EPHB2	HGNC	protein_coding	OTTHUMT00000008060.2	25	0.00	0	G	NM_017449		23191665	23191665	+1	no_errors	ENST00000400191	ensembl	human	known	69_37n	silent	29	12.12	4	SNP	0.059	T
FAM47A	158724	genome.wustl.edu	37	X	34148882	34148882	+	Missense_Mutation	SNP	C	C	T	rs5973089		TCGA-A2-A0CK-01A-11D-A228-09	TCGA-A2-A0CK-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	41fd0980-b541-40b8-9aae-3f47a9842486	b09f8ac6-5d0e-4e14-9f9e-ceafc44cfaea	g.chrX:34148882C>T	ENST00000346193.3	-	1	1565	c.1514G>A	c.(1513-1515)cGc>cAc	p.R505H		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	505			Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.					p.R505H(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGGCTCCGAGCGGAGACTGGA	0.647																																						dbGAP											2	Substitution - Missense(2)	kidney(1)|endometrium(1)											30.0	31.0	31.0					X																	34148882		2183	4272	6455	-	-	-	SO:0001583	missense	0			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1514G>A	X.37:g.34148882C>T	ENSP00000345029:p.Arg505His		A8K8I9|Q8TAA0	Missense_Mutation	SNP	NULL	p.R505H	ENST00000346193.3	37	c.1514	CCDS43926.1	X	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	c	0.583	-0.836375	0.02692	.	.	ENSG00000185448	ENST00000346193	T	0.21191	2.02	0.513	-0.53	0.11898	.	.	.	.	.	T	0.11623	0.0283	N	0.21097	0.63	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.28106	-1.0054	8	0.40728	T	0.16	.	.	.	.	rs5973089	505	Q5JRC9	FA47A_HUMAN	H	505	ENSP00000345029:R505H	ENSP00000345029:R505H	R	-	2	0	FAM47A	34058803	0.076000	0.21285	0.002000	0.10522	0.006000	0.05464	-0.425000	0.07017	-0.338000	0.08413	-0.722000	0.03604	CGC	FAM47A	-	NULL	ENSG00000185448		0.647	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47A	HGNC	protein_coding	OTTHUMT00000056205.1	42	0.00	0	C	NM_203408		34148882	34148882	-1	no_errors	ENST00000346193	ensembl	human	known	69_37n	missense	39	13.33	6	SNP	0.002	T
GLB1L3	112937	genome.wustl.edu	37	11	134179638	134179638	+	Silent	SNP	G	G	A			TCGA-A2-A0CK-01A-11D-A228-09	TCGA-A2-A0CK-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	41fd0980-b541-40b8-9aae-3f47a9842486	b09f8ac6-5d0e-4e14-9f9e-ceafc44cfaea	g.chr11:134179638G>A	ENST00000431683.2	+	11	1080	c.1080G>A	c.(1078-1080)tcG>tcA	p.S360S		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	360					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GGAAGCACTCGGGCATTGTCA	0.507																																						dbGAP											0													67.0	66.0	66.0					11																	134179638		1938	4122	6060	-	-	-	SO:0001819	synonymous_variant	0				CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1080G>A	11.37:g.134179638G>A			A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	pfam_Glycoside_Hdrlase_35,superfamily_Glycoside_hydrolase_SF,prints_Glycoside_Hdrlase_35	p.R45Q	ENST00000431683.2	37	c.134	CCDS44780.1	11																																																																																			GLB1L3	-	pfam_Glycoside_Hdrlase_35,superfamily_Glycoside_hydrolase_SF,prints_Glycoside_Hdrlase_35	ENSG00000166105		0.507	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	GLB1L3	HGNC	protein_coding	OTTHUMT00000393625.1	20	0.00	0	G	NM_138416		134179638	134179638	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000455971	ensembl	human	known	69_37n	missense	8	60.00	12	SNP	0.000	A
GNE	10020	genome.wustl.edu	37	9	36246269	36246269	+	Silent	SNP	C	C	T			TCGA-A2-A0CK-01A-11D-A228-09	TCGA-A2-A0CK-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	41fd0980-b541-40b8-9aae-3f47a9842486	b09f8ac6-5d0e-4e14-9f9e-ceafc44cfaea	g.chr9:36246269C>T	ENST00000539815.1	-	2	415	c.375G>A	c.(373-375)ttG>ttA	p.L125L	GNE_ENST00000377902.5_Silent_p.L125L|GNE_ENST00000447283.2_Silent_p.L125L|GNE_ENST00000539208.1_Silent_p.L66L|GNE_ENST00000396594.3_Silent_p.L156L|GNE_ENST00000543356.2_Silent_p.L120L			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	125					carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			GGATGTTCATCAAGGCAGCAG	0.468																																					GBM(184;106 2118 20004 35750 50727)	dbGAP											0													126.0	103.0	111.0					9																	36246269		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"""UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"""	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.375G>A	9.37:g.36246269C>T			A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Silent	SNP	pfam_UDP_GlcNAc_Epimerase_2,pfam_ROK,prints_Hexokinase,tigrfam_UDP-GlcNAc_Epase	p.L156	ENST00000539815.1	37	c.468	CCDS6602.1	9																																																																																			GNE	-	pfam_UDP_GlcNAc_Epimerase_2,tigrfam_UDP-GlcNAc_Epase	ENSG00000159921		0.468	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GNE	HGNC	protein_coding	OTTHUMT00000052412.4	30	0.00	0	C	NM_005476		36246269	36246269	-1	no_errors	ENST00000396594	ensembl	human	known	69_37n	silent	24	33.33	12	SNP	1.000	T
GYS1	2997	genome.wustl.edu	37	19	49490524	49490524	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0CK-01A-11D-A228-09	TCGA-A2-A0CK-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	41fd0980-b541-40b8-9aae-3f47a9842486	b09f8ac6-5d0e-4e14-9f9e-ceafc44cfaea	g.chr19:49490524C>T	ENST00000323798.3	-	3	615	c.419G>A	c.(418-420)gGa>gAa	p.G140E	GYS1_ENST00000540532.1_Missense_Mutation_p.G60E|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000457974.1_5'UTR|GYS1_ENST00000541188.1_Missense_Mutation_p.G60E|GYS1_ENST00000263276.6_Intron	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	140					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CCACGGCACTCCGATGTTGCA	0.637																																						dbGAP											0													83.0	60.0	68.0					19																	49490524		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.419G>A	19.37:g.49490524C>T	ENSP00000317904:p.Gly140Glu		Q9BTT9	Missense_Mutation	SNP	pfam_Glycogen_synth,pfam_Glyco_trans_1,pfam_Starch_synth_cat_dom	p.G140E	ENST00000323798.3	37	c.419	CCDS12747.1	19	.	.	.	.	.	.	.	.	.	.	C	23.9	4.476168	0.84640	.	.	ENSG00000104812	ENST00000323798;ENST00000541188;ENST00000540532;ENST00000457974	T;T;T	0.68331	-0.32;-0.32;-0.32	4.01	4.01	0.46588	.	0.000000	0.85682	D	0.000000	T	0.78528	0.4297	M	0.69358	2.11	0.80722	D	1	D;D	0.71674	0.965;0.998	P;D	0.70227	0.848;0.968	T	0.80063	-0.1539	10	0.51188	T	0.08	-30.0156	14.4503	0.67379	0.0:1.0:0.0:0.0	.	60;140	B7Z806;P13807	.;GYS1_HUMAN	E	140;60;60;139	ENSP00000317904:G140E;ENSP00000437922:G60E;ENSP00000445197:G60E	ENSP00000317904:G140E	G	-	2	0	GYS1	54182336	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	7.351000	0.79395	2.192000	0.70111	0.557000	0.71058	GGA	GYS1	-	pfam_Glycogen_synth	ENSG00000104812		0.637	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GYS1	HGNC	protein_coding	OTTHUMT00000319791.1	43	0.00	0	C	NM_002103		49490524	49490524	-1	no_errors	ENST00000323798	ensembl	human	known	69_37n	missense	60	36.84	35	SNP	1.000	T
IGFN1	91156	genome.wustl.edu	37	1	201177616	201177616	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0CK-01A-11D-A228-09	TCGA-A2-A0CK-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	41fd0980-b541-40b8-9aae-3f47a9842486	b09f8ac6-5d0e-4e14-9f9e-ceafc44cfaea	g.chr1:201177616G>A	ENST00000335211.4	+	12	3725	c.3595G>A	c.(3595-3597)Gct>Act	p.A1199T	IGFN1_ENST00000451870.2_Intron|IGFN1_ENST00000295591.8_5'UTR	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0	Ig-like 5.					nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CAATGGGGCCGCTTCTGGGAG	0.582																																						dbGAP											0													22.0	21.0	21.0					1																	201177616		692	1591	2283	-	-	-	SO:0001583	missense	0			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.3595G>A	1.37:g.201177616G>A	ENSP00000334714:p.Ala1199Thr		F8WAI1|Q9NT72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.A1199T	ENST00000335211.4	37	c.3595	CCDS53455.1	1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.646047	0.29246	.	.	ENSG00000163395	ENST00000335211	T	0.55052	0.54	3.18	-0.0669	0.13762	.	.	.	.	.	T	0.24624	0.0597	N	0.08118	0	0.09310	N	0.999999	.	.	.	.	.	.	T	0.16453	-1.0402	6	.	.	.	.	3.4484	0.07488	0.2226:0.0:0.5732:0.2042	.	.	.	.	T	1199	ENSP00000334714:A1199T	.	A	+	1	0	IGFN1	199444239	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-0.011000	0.12721	-0.139000	0.11414	0.462000	0.41574	GCT	IGFN1	-	NULL	ENSG00000163395		0.582	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding		22	0.00	0	G	NM_178275		201177616	201177616	+1	no_errors	ENST00000335211	ensembl	human	known	69_37n	missense	23	25.81	8	SNP	0.000	A
KDM6A	7403	genome.wustl.edu	37	X	44941830	44941831	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A2-A0CK-01A-11D-A228-09	TCGA-A2-A0CK-10A-01D-A22A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	41fd0980-b541-40b8-9aae-3f47a9842486	b09f8ac6-5d0e-4e14-9f9e-ceafc44cfaea	g.chrX:44941830_44941831insA	ENST00000377967.4	+	21	3195_3196	c.3154_3155insA	c.(3154-3156)gaafs	p.E1052fs	KDM6A_ENST00000382899.4_Frame_Shift_Ins_p.E1059fs|KDM6A_ENST00000543216.1_Frame_Shift_Ins_p.E973fs|KDM6A_ENST00000536777.1_Frame_Shift_Ins_p.E1007fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1052	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.E1052*(1)|p.R1054fs*5(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GGAAGAAAATGAAAAAAGAAGT	0.312			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	dbGAP		Rec	yes		X	Xp11.2	7403	"""lysine (K)-specific demethylase 6A, UTX"""		"""E, L"""	8	Whole gene deletion(6)|Substitution - Nonsense(1)|Insertion - Frameshift(1)	oesophagus(2)|breast(2)|pancreas(2)|lung(1)|central_nervous_system(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3160dupA	X.37:g.44941836_44941836dupA	ENSP00000367203:p.Glu1052fs		Q52LL9|Q5JVQ7	Frame_Shift_Ins	INS	pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R1061fs	ENST00000377967.4	37	c.3175_3176	CCDS14265.1	X																																																																																			KDM6A	-	NULL	ENSG00000147050		0.312	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	53	0.00	0	-	NM_021140		44941830	44941831	+1	no_errors	ENST00000382899	ensembl	human	known	69_37n	frame_shift_ins	33	26.67	12	INS	1.000:1.000	A
MIR4477B	100616194	genome.wustl.edu	37	9	68415386	68415386	+	RNA	SNP	G	G	A	rs1844035	byFrequency	TCGA-A2-A0CK-01A-11D-A228-09	TCGA-A2-A0CK-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	41fd0980-b541-40b8-9aae-3f47a9842486	b09f8ac6-5d0e-4e14-9f9e-ceafc44cfaea	g.chr9:68415386G>A	ENST00000581659.1	+	0	79					NR_039688.1|NR_039689.1				microRNA 4477b																		gatgggaggaggatgaaatat	0.413																																						dbGAP											0																																										-	-	-			0					9	2011-09-12						"""ncRNAs / Micro RNAs"""	41898	non-coding RNA	RNA, micro							Standard	NR_039689		Approved	hsa-mir-4477b					9.37:g.68415386G>A				RNA	SNP	-	NULL	ENST00000581659.1	37	NULL		9																																																																																			MIR4477A	-	-	ENSG00000266017		0.413	MIR4477B-201	KNOWN	basic	miRNA	MIR4477A	HGNC	miRNA		12	0.00	0	G	NR_039689		68415386	68415386	+1	no_errors	ENST00000581659	ensembl	human	known	69_37n	rna	9	30.77	4	SNP	0.066	A
PCDHGA7	56108	genome.wustl.edu	37	5	140764698	140764698	+	Silent	SNP	C	C	T	rs371376308		TCGA-A2-A0CK-01A-11D-A228-09	TCGA-A2-A0CK-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	41fd0980-b541-40b8-9aae-3f47a9842486	b09f8ac6-5d0e-4e14-9f9e-ceafc44cfaea	g.chr5:140764698C>T	ENST00000518325.1	+	1	2232	c.2232C>T	c.(2230-2232)gaC>gaT	p.D744D	PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_5'Flank|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	744					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCATGGACGGGGTGCAGG	0.617																																						dbGAP											0													68.0	74.0	72.0					5																	140764698		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.2232C>T	5.37:g.140764698C>T			B2RN87|Q9Y5D0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D744	ENST00000518325.1	37	c.2232	CCDS54927.1	5																																																																																			PCDHGA7	-	NULL	ENSG00000253537		0.617	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA7	HGNC	protein_coding	OTTHUMT00000374744.1	35	0.00	0	C	NM_018920		140764698	140764698	+1	no_errors	ENST00000518325	ensembl	human	known	69_37n	silent	23	34.29	12	SNP	0.001	T
PCDHGC4	56098	genome.wustl.edu	37	5	140866201	140866201	+	Silent	SNP	T	T	C			TCGA-A2-A0CK-01A-11D-A228-09	TCGA-A2-A0CK-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	41fd0980-b541-40b8-9aae-3f47a9842486	b09f8ac6-5d0e-4e14-9f9e-ceafc44cfaea	g.chr5:140866201T>C	ENST00000306593.1	+	1	1461	c.1461T>C	c.(1459-1461)aaT>aaC	p.N487N	PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGC5_ENST00000252087.1_5'Flank|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	487	Cadherin 5. {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)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGCTTGAATGCGCTTATCT	0.522																																						dbGAP											0													108.0	109.0	108.0					5																	140866201		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.1461T>C	5.37:g.140866201T>C			Q495T2|Q9Y5C3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N487	ENST00000306593.1	37	c.1461	CCDS4262.1	5																																																																																			PCDHGC4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000242419		0.522	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC4	HGNC	protein_coding	OTTHUMT00000251820.1	21	0.00	0	T	NM_018928		140866201	140866201	+1	no_errors	ENST00000306593	ensembl	human	known	69_37n	silent	27	15.62	5	SNP	0.934	C
PPP1R8	5511	genome.wustl.edu	37	1	28169800	28169801	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A2-A0CK-01A-11D-A228-09	TCGA-A2-A0CK-10A-01D-A22A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	41fd0980-b541-40b8-9aae-3f47a9842486	b09f8ac6-5d0e-4e14-9f9e-ceafc44cfaea	g.chr1:28169800_28169801insA	ENST00000311772.5	+	5	654_655	c.596_597insA	c.(595-600)tcacggfs	p.R200fs	PPP1R8_ENST00000373931.4_Frame_Shift_Ins_p.R58fs|PPP1R8_ENST00000236412.7_5'UTR	NM_014110.4	NP_054829.2	Q12972	PP1R8_HUMAN	protein phosphatase 1, regulatory subunit 8	200	Interaction with EED.|Involved in PP-1 binding.|Involved in PP-1 inhibition.				cell proliferation (GO:0008283)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|protein phosphatase type 1 regulator activity (GO:0008599)|protein serine/threonine phosphatase inhibitor activity (GO:0004865)|ribonuclease E activity (GO:0008995)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		AGGAAGAACTCACGGGTGACAT	0.49																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF061959	CCDS311.1, CCDS312.1, CCDS313.1	1p35.3	2012-04-17	2011-10-04		ENSG00000117751	ENSG00000117751		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9296	protein-coding gene	gene with protein product	"""RNase E"", ""nuclear subunit of PP-1"", ""nuclear inhibitor of protein phosphatase-1"", ""activator of RNA decay"", ""protein phosphatase 1 regulatory subunit 8"""	602636	"""protein phosphatase 1, regulatory (inhibitor) subunit 8"""			7524097, 8473324	Standard	NM_014110		Approved	ard-1, NIPP-1, PRO2047, ARD1, NIPP1	uc001bov.2	Q12972	OTTHUMG00000003734	ENST00000311772.5:c.597dupA	1.37:g.28169801_28169801dupA	ENSP00000311677:p.Arg200fs		Q5TEJ2|Q5TEJ4|Q5TIF2|Q6PKF6|Q9UBH1|Q9UBZ0	Frame_Shift_Ins	INS	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.R200fs	ENST00000311772.5	37	c.596_597	CCDS311.1	1																																																																																			PPP1R8	-	NULL	ENSG00000117751		0.490	PPP1R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R8	HGNC	protein_coding	OTTHUMT00000010528.1	26	0.00	0	-	NM_014110		28169800	28169801	+1	no_errors	ENST00000311772	ensembl	human	known	69_37n	frame_shift_ins	34	40.35	23	INS	0.999:0.011	A
RLTPR	146206	genome.wustl.edu	37	16	67683046	67683046	+	Silent	SNP	G	G	A			TCGA-A2-A0CK-01A-11D-A228-09	TCGA-A2-A0CK-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	41fd0980-b541-40b8-9aae-3f47a9842486	b09f8ac6-5d0e-4e14-9f9e-ceafc44cfaea	g.chr16:67683046G>A	ENST00000334583.6	+	18	1987	c.1659G>A	c.(1657-1659)gcG>gcA	p.A553A	RLTPR_ENST00000545661.1_Silent_p.A517A	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	553					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)		p.A553A(1)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GACATGTGGCGCTTGGAAGGA	0.652																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											52.0	61.0	58.0					16																	67683046		2070	4197	6267	-	-	-	SO:0001819	synonymous_variant	0			AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.1659G>A	16.37:g.67683046G>A			B8X2Z3	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.A553	ENST00000334583.6	37	c.1659	CCDS45513.1	16																																																																																			RLTPR	-	NULL	ENSG00000159753		0.652	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RLTPR	HGNC	protein_coding	OTTHUMT00000467858.1	32	0.00	0	G	NM_001013838		67683046	67683046	+1	no_errors	ENST00000334583	ensembl	human	known	69_37n	silent	7	56.25	9	SNP	0.178	A
STAC	6769	genome.wustl.edu	37	3	36484914	36484914	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0CK-01A-11D-A228-09	TCGA-A2-A0CK-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	41fd0980-b541-40b8-9aae-3f47a9842486	b09f8ac6-5d0e-4e14-9f9e-ceafc44cfaea	g.chr3:36484914C>T	ENST00000273183.3	+	2	470	c.170C>T	c.(169-171)gCt>gTt	p.A57V	STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Missense_Mutation_p.A57V	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	57					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						AGCAAAAGTGCTGACAACTTC	0.488																																						dbGAP											0													87.0	70.0	75.0					3																	36484914		2203	4300	6503	-	-	-	SO:0001583	missense	0			D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"""src homology three (SH3) and cysteine rich domain"""			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.170C>T	3.37:g.36484914C>T	ENSP00000273183:p.Ala57Val		B2R8S8	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.A57V	ENST00000273183.3	37	c.170	CCDS2662.1	3	.	.	.	.	.	.	.	.	.	.	C	16.49	3.138490	0.56936	.	.	ENSG00000144681	ENST00000273183;ENST00000457375;ENST00000434649	T;T;T	0.74632	-0.86;1.27;1.11	5.02	5.02	0.67125	.	0.118259	0.56097	D	0.000025	T	0.76076	0.3937	L	0.31065	0.9	0.58432	D	0.999996	D;D	0.76494	0.999;0.998	D;P	0.70487	0.969;0.862	T	0.68815	-0.5309	10	0.02654	T	1	.	18.3153	0.90218	0.0:1.0:0.0:0.0	.	57;57	E9PEA7;Q99469	.;STAC_HUMAN	V	57;57;46	ENSP00000273183:A57V;ENSP00000393713:A57V;ENSP00000398403:A46V	ENSP00000273183:A57V	A	+	2	0	STAC	36459918	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.816000	0.62642	2.486000	0.83907	0.650000	0.86243	GCT	STAC	-	NULL	ENSG00000144681		0.488	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAC	HGNC	protein_coding	OTTHUMT00000253338.2	16	0.00	0	C	NM_003149		36484914	36484914	+1	no_errors	ENST00000273183	ensembl	human	known	69_37n	missense	14	30.00	6	SNP	1.000	T
STAMBP	10617	genome.wustl.edu	37	2	74074849	74074849	+	Silent	SNP	G	G	A	rs528923178		TCGA-A2-A0CK-01A-11D-A228-09	TCGA-A2-A0CK-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	41fd0980-b541-40b8-9aae-3f47a9842486	b09f8ac6-5d0e-4e14-9f9e-ceafc44cfaea	g.chr2:74074849G>A	ENST00000394070.2	+	5	1214	c.711G>A	c.(709-711)ttG>ttA	p.L237L	STAMBP_ENST00000536064.1_Intron|STAMBP_ENST00000339566.3_Silent_p.L237L|STAMBP_ENST00000409707.1_Silent_p.L237L|STAMBP_ENST00000394073.1_Silent_p.L237L	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	237					JAK-STAT cascade (GO:0007259)|mitotic cytokinesis (GO:0000281)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of cell proliferation (GO:0008284)|protein deubiquitination (GO:0016579)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						ACAGGTCCTTGAAACCTGGAG	0.488																																						dbGAP											0													106.0	98.0	100.0					2																	74074849		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC007682	CCDS1929.1	2p24.3-p24.1	2008-02-05			ENSG00000124356	ENSG00000124356			16950	protein-coding gene	gene with protein product		606247				10383417	Standard	NM_006463		Approved	AMSH	uc002sjs.3	O95630	OTTHUMG00000129817	ENST00000394070.2:c.711G>A	2.37:g.74074849G>A			B5M0B6|D6W5H7|Q3MJE7	Silent	SNP	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1	p.L237	ENST00000394070.2	37	c.711	CCDS1929.1	2																																																																																			STAMBP	-	NULL	ENSG00000124356		0.488	STAMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAMBP	HGNC	protein_coding	OTTHUMT00000252048.2	29	0.00	0	G	NM_006463		74074849	74074849	+1	no_errors	ENST00000339566	ensembl	human	known	69_37n	silent	28	12.50	4	SNP	1.000	A
STAT6	6778	genome.wustl.edu	37	12	57501977	57501977	+	Missense_Mutation	SNP	G	G	A	rs544099322		TCGA-A2-A0CK-01A-11D-A228-09	TCGA-A2-A0CK-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	41fd0980-b541-40b8-9aae-3f47a9842486	b09f8ac6-5d0e-4e14-9f9e-ceafc44cfaea	g.chr12:57501977G>A	ENST00000300134.3	-	2	410	c.85C>T	c.(85-87)Ctt>Ttt	p.L29F	STAT6_ENST00000538913.2_Intron|STAT6_ENST00000537215.2_Intron|STAT6_ENST00000454075.3_Missense_Mutation_p.L29F|STAT6_ENST00000556155.1_Missense_Mutation_p.L29F|STAT6_ENST00000543873.2_Missense_Mutation_p.L29F	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	29					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						TCACCCAGAAGATGCCGCAGG	0.562																																						dbGAP											0													42.0	38.0	39.0					12																	57501977		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.85C>T	12.37:g.57501977G>A	ENSP00000300134:p.Leu29Phe		A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.L29F	ENST00000300134.3	37	c.85	CCDS8931.1	12	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013217	0.35511	.	.	ENSG00000166888	ENST00000300134;ENST00000543873;ENST00000556155;ENST00000454075;ENST00000542516;ENST00000555849;ENST00000556259;ENST00000553499;ENST00000553397;ENST00000554663;ENST00000554825;ENST00000557635;ENST00000553275	T;T;T;T;T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68	4.61	4.61	0.57282	STAT transcription factor, protein interaction (4);	0.226724	0.37530	N	0.002056	T	0.37999	0.1024	L	0.29908	0.895	0.80722	D	1	B;B	0.31256	0.316;0.116	B;B	0.35931	0.214;0.085	T	0.20907	-1.0261	10	0.31617	T	0.26	-12.2171	12.8123	0.57647	0.0:0.0:1.0:0.0	.	29;29	A8K4S9;P42226	.;STAT6_HUMAN	F	29	ENSP00000300134:L29F;ENSP00000438451:L29F;ENSP00000451742:L29F;ENSP00000401486:L29F;ENSP00000452394:L29F;ENSP00000452373:L29F;ENSP00000451074:L29F;ENSP00000452203:L29F;ENSP00000450665:L29F;ENSP00000451209:L29F;ENSP00000450747:L29F;ENSP00000450732:L29F	ENSP00000300134:L29F	L	-	1	0	STAT6	55788244	0.999000	0.42202	0.999000	0.59377	0.950000	0.60333	1.979000	0.40608	2.385000	0.81259	0.563000	0.77884	CTT	STAT6	-	pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction	ENSG00000166888		0.562	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT6	HGNC	protein_coding	OTTHUMT00000412248.3	28	0.00	0	G	NM_003153		57501977	57501977	-1	no_errors	ENST00000300134	ensembl	human	known	69_37n	missense	26	35.00	14	SNP	1.000	A
TRIO	7204	genome.wustl.edu	37	5	14287160	14287160	+	Silent	SNP	A	A	G			TCGA-A2-A0CK-01A-11D-A228-09	TCGA-A2-A0CK-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	41fd0980-b541-40b8-9aae-3f47a9842486	b09f8ac6-5d0e-4e14-9f9e-ceafc44cfaea	g.chr5:14287160A>G	ENST00000344204.4	+	4	552	c.528A>G	c.(526-528)aaA>aaG	p.K176K	TRIO_ENST00000509967.2_Silent_p.K127K|TRIO_ENST00000537187.1_Silent_p.K176K	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	176	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCAGTTCTAAATTTGAATTTG	0.433																																						dbGAP											0													74.0	73.0	73.0					5																	14287160		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.528A>G	5.37:g.14287160A>G			D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.K176	ENST00000344204.4	37	c.528	CCDS3883.1	5																																																																																			TRIO	-	superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000038382		0.433	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	HGNC	protein_coding	OTTHUMT00000253711.2	44	0.00	0	A	NM_007118		14287160	14287160	+1	no_errors	ENST00000344204	ensembl	human	known	69_37n	silent	36	33.33	18	SNP	0.964	G
ZNF462	58499	genome.wustl.edu	37	9	109691404	109691404	+	Silent	SNP	C	C	T			TCGA-A2-A0CK-01A-11D-A228-09	TCGA-A2-A0CK-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	41fd0980-b541-40b8-9aae-3f47a9842486	b09f8ac6-5d0e-4e14-9f9e-ceafc44cfaea	g.chr9:109691404C>T	ENST00000277225.5	+	3	5500	c.5211C>T	c.(5209-5211)agC>agT	p.S1737S	ZNF462_ENST00000441147.2_Silent_p.S582S|ZNF462_ENST00000457913.1_Silent_p.S1737S			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1737					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GGACCATCAGCGACAAGCCCA	0.582																																						dbGAP											0													111.0	90.0	97.0					9																	109691404		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.5211C>T	9.37:g.109691404C>T			Q5T0T4|Q8N408	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S1737	ENST00000277225.5	37	c.5211	CCDS35096.1	9																																																																																			ZNF462	-	NULL	ENSG00000148143		0.582	ZNF462-001	KNOWN	basic|CCDS	protein_coding	ZNF462	HGNC	protein_coding	OTTHUMT00000053532.2	20	0.00	0	C	NM_021224		109691404	109691404	+1	no_errors	ENST00000457913	ensembl	human	known	69_37n	silent	21	38.24	13	SNP	0.591	T
