#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
ADAM21	8747	genome.wustl.edu	37	14	70924294	70924294	+	Silent	SNP	C	C	T	rs112060847		TCGA-BH-A0DS-01A-11W-A071-09	TCGA-BH-A0DS-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee	fb5e6f04-b651-434e-901a-11d84eb99da7	g.chr14:70924294C>T	ENST00000603540.1	+	2	336	c.78C>T	c.(76-78)tcC>tcT	p.S26S	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Silent_p.S26S	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	26					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGTCTATTTCCGGCTACTGTC	0.542																																						dbGAP											0													101.0	110.0	107.0					14																	70924294		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.78C>T	14.37:g.70924294C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O43507|Q2VPC6|Q32MR0	Silent	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.S26	ENST00000603540.1	37	c.78	CCDS9804.1	14																																																																																			ADAM21	-	NULL	ENSG00000139985		0.542	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM21	HGNC	protein_coding	OTTHUMT00000413008.3	138	0.00	0	C			70924294	70924294	+1	no_errors	ENST00000267499	ensembl	human	known	69_37n	silent	244	13.48	38	SNP	0.000	T
AKAP14	158798	genome.wustl.edu	37	X	119037537	119037537	+	Silent	SNP	C	C	T			TCGA-BH-A0DS-01A-11W-A071-09	TCGA-BH-A0DS-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee	fb5e6f04-b651-434e-901a-11d84eb99da7	g.chrX:119037537C>T	ENST00000371431.3	+	4	523	c.249C>T	c.(247-249)gaC>gaT	p.D83D	AKAP14_ENST00000394594.2_Silent_p.D83D|AKAP14_ENST00000371423.2_Silent_p.D83D|AKAP14_ENST00000334356.2_Silent_p.D83D|AKAP14_ENST00000371422.1_Silent_p.D83D|AKAP14_ENST00000371425.4_Silent_p.D83D	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14	83					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)				endometrium(4)|large_intestine(1)|lung(8)	13						AACAAATTGACGAATATTTTT	0.418																																						dbGAP											0													81.0	63.0	69.0					X																	119037537		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF514780	CCDS14591.1, CCDS35376.1, CCDS35377.1	Xq24	2008-02-05			ENSG00000186471	ENSG00000186471		"""A-kinase anchor proteins"""	24061	protein-coding gene	gene with protein product		300462				12475942	Standard	NM_178813		Approved	AKAP28	uc004ese.3	Q86UN6	OTTHUMG00000022285	ENST00000371431.3:c.249C>T	X.37:g.119037537C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNZ0|Q86UN4|Q86UN5	Silent	SNP	NULL	p.D83	ENST00000371431.3	37	c.249	CCDS14591.1	X																																																																																			AKAP14	-	NULL	ENSG00000186471		0.418	AKAP14-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AKAP14	HGNC	protein_coding	OTTHUMT00000058078.1	36	0.00	0	C	NM_178813		119037537	119037537	+1	no_errors	ENST00000371431	ensembl	human	known	69_37n	silent	82	21.90	23	SNP	0.000	T
ANKRD36BP2	645784	genome.wustl.edu	37	2	89100821	89100824	+	RNA	DEL	AAGT	AAGT	-			TCGA-BH-A0DS-01A-11W-A071-09	TCGA-BH-A0DS-10A-01W-A071-09	AAGT	AAGT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee	fb5e6f04-b651-434e-901a-11d84eb99da7	g.chr2:89100821_89100824delAAGT	ENST00000393525.3	+	0	1295_1298									ankyrin repeat domain 36B pseudogene 2																		GCAGAAAGAGAAGTAAGTATCAAG	0.289																																						dbGAP											0																																										-	-	-			0					2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89100825_89100828delAAGT		Somatic		WXS	Illumina GAIIx	Phase_IV		Splice_Site	DEL	-	NULL	ENST00000393525.3	37	c.NULL		2																																																																																			ANKRD36BP2	-	-	ENSG00000230006		0.289	ANKRD36BP2-003	KNOWN	basic	processed_transcript	ANKRD36BP2	HGNC	pseudogene	OTTHUMT00000323523.1	26	0.00	0	AAGT			89100821	89100824	+1	no_errors	ENST00000393515	ensembl	human	known	69_37n	splice_site_del	41	12.77	6	DEL	0.865:0.869:0.868:0.860	-
CORIN	10699	genome.wustl.edu	37	4	47839941	47839941	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DS-01A-11W-A071-09	TCGA-BH-A0DS-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee	fb5e6f04-b651-434e-901a-11d84eb99da7	g.chr4:47839941G>A	ENST00000273857.4	-	1	25	c.26C>T	c.(25-27)cCg>cTg	p.P9L	CORIN_ENST00000505909.1_Missense_Mutation_p.P9L|RP11-121C2.2_ENST00000563286.1_lincRNA|CORIN_ENST00000502252.1_Missense_Mutation_p.P9L|CORIN_ENST00000504584.1_Missense_Mutation_p.P9L	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	9					female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GCGCTCTTCCGGAGCGAGGGC	0.557																																						dbGAP											0													111.0	113.0	113.0					4																	47839941		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.26C>T	4.37:g.47839941G>A	ENSP00000273857:p.Pro9Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.P9L	ENST00000273857.4	37	c.26	CCDS3477.1	4	.	.	.	.	.	.	.	.	.	.	G	1.977	-0.435033	0.04669	.	.	ENSG00000145244	ENST00000273857;ENST00000502252;ENST00000505909;ENST00000504584	D;D;D;D	0.94537	-2.81;-3.06;-2.71;-3.45	4.71	-0.512	0.11966	.	1.715750	0.03135	N	0.165685	D	0.88138	0.6356	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.09022	0.002;0.002;0.001;0.001	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.77429	-0.2591	10	0.72032	D	0.01	.	5.3415	0.15986	0.0878:0.5152:0.2679:0.1291	.	9;9;9;9	B7Z4R1;B4E2W9;B4E1Y7;Q9Y5Q5	.;.;.;CORIN_HUMAN	L	9	ENSP00000273857:P9L;ENSP00000424212:P9L;ENSP00000425401:P9L;ENSP00000423216:P9L	ENSP00000273857:P9L	P	-	2	0	CORIN	47534698	0.032000	0.19561	0.002000	0.10522	0.003000	0.03518	0.062000	0.14389	-0.277000	0.09193	0.561000	0.74099	CCG	CORIN	-	pirsf_Peptidase_S1A_corin	ENSG00000145244		0.557	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORIN	HGNC	protein_coding	OTTHUMT00000216906.2	56	0.00	0	G			47839941	47839941	-1	no_errors	ENST00000273857	ensembl	human	known	69_37n	missense	48	31.43	22	SNP	0.004	A
CREB5	9586	genome.wustl.edu	37	7	28848830	28848830	+	Silent	SNP	G	G	A			TCGA-BH-A0DS-01A-11W-A071-09	TCGA-BH-A0DS-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee	fb5e6f04-b651-434e-901a-11d84eb99da7	g.chr7:28848830G>A	ENST00000357727.2	+	9	1443	c.1053G>A	c.(1051-1053)caG>caA	p.Q351Q	CREB5_ENST00000396300.2_Silent_p.Q344Q|CREB5_ENST00000396298.2_Silent_p.Q212Q|CREB5_ENST00000409603.1_Silent_p.Q318Q|CREB5_ENST00000396299.2_Silent_p.Q318Q	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	351					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						AACAGATGCAGCCAACCCAGA	0.602																																						dbGAP											0													54.0	56.0	55.0					7																	28848830		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.1053G>A	7.37:g.28848830G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Silent	SNP	pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP	p.Q351	ENST00000357727.2	37	c.1053	CCDS5417.1	7																																																																																			CREB5	-	pirsf_TF_cAMP-dep	ENSG00000146592		0.602	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CREB5	HGNC	protein_coding	OTTHUMT00000214204.4	55	0.00	0	G	NM_004904		28848830	28848830	+1	no_errors	ENST00000357727	ensembl	human	known	69_37n	silent	66	13.16	10	SNP	1.000	A
DCLRE1C	64421	genome.wustl.edu	37	10	14961809	14961809	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0DS-01A-11W-A071-09	TCGA-BH-A0DS-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee	fb5e6f04-b651-434e-901a-11d84eb99da7	g.chr10:14961809A>G	ENST00000378278.2	-	13	1121	c.1084T>C	c.(1084-1086)Tcc>Ccc	p.S362P	DCLRE1C_ENST00000378254.1_Missense_Mutation_p.S242P|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.S247P|DCLRE1C_ENST00000453695.2_Missense_Mutation_p.S242P|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.S242P|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.S242P|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.S247P|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.S15P|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.S242P|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.S362P|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.S247P			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	362					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						GTACTTTGGGAAGACCGGCAT	0.393								Non-homologous end-joining																														dbGAP											0													123.0	118.0	120.0					10																	14961809		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	605988	"""severe combined immunodeficiency, type a (Athabascan)"", ""DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"""	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.1084T>C	10.37:g.14961809A>G	ENSP00000367527:p.Ser362Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	pfam_DRMBL	p.S362P	ENST00000378278.2	37	c.1084	CCDS31149.1	10	.	.	.	.	.	.	.	.	.	.	A	14.99	2.700086	0.48307	.	.	ENSG00000152457	ENST00000378289;ENST00000453695;ENST00000378246;ENST00000357717;ENST00000378249;ENST00000396817;ENST00000378255;ENST00000378254;ENST00000378278;ENST00000378258;ENST00000378242	T;T;T;T;T;T;T;T;T;T	0.77877	-1.05;-0.59;-0.61;-0.61;-0.61;-0.59;-0.59;-0.59;-1.13;-0.59	5.6	3.18	0.36537	.	0.666616	0.16126	N	0.228431	T	0.67116	0.2859	L	0.38838	1.175	0.22424	N	0.999116	B;B;B	0.18013	0.003;0.003;0.025	B;B;B	0.14023	0.006;0.007;0.01	T	0.55159	-0.8184	10	0.39692	T	0.17	.	10.1071	0.42539	0.8599:0.0:0.1401:0.0	.	362;247;362	Q96SD1-4;Q96SD1-3;Q96SD1	.;.;DCR1C_HUMAN	P	362;242;247;247;247;242;242;242;362;242;15	ENSP00000367538:S362P;ENSP00000400529:S242P;ENSP00000367492:S247P;ENSP00000350349:S247P;ENSP00000367496:S247P;ENSP00000380030:S242P;ENSP00000367503:S242P;ENSP00000367502:S242P;ENSP00000367527:S362P;ENSP00000367506:S242P	ENSP00000350349:S247P	S	-	1	0	DCLRE1C	15001815	1.000000	0.71417	0.999000	0.59377	0.888000	0.51559	2.322000	0.43814	0.458000	0.26988	0.528000	0.53228	TCC	DCLRE1C	-	NULL	ENSG00000152457		0.393	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1C	HGNC	protein_coding	OTTHUMT00000046934.1	99	0.00	0	A	NM_022487		14961809	14961809	-1	no_errors	ENST00000378278	ensembl	human	known	69_37n	missense	121	18.24	27	SNP	0.915	G
DDB1	1642	genome.wustl.edu	37	11	61093159	61093160	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0DS-01A-11W-A071-09	TCGA-BH-A0DS-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee	fb5e6f04-b651-434e-901a-11d84eb99da7	g.chr11:61093159_61093160insC	ENST00000301764.7	-	6	1082_1083	c.685_686insG	c.(685-687)gccfs	p.A229fs	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	229	Interaction with CDT1.|WD repeat beta-propeller A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						AATGATGATGGCCCCCCCAAAG	0.49								Nucleotide excision repair (NER)																														dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.686dupG	11.37:g.61093166_61093166dupC	ENSP00000301764:p.Ala229fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Frame_Shift_Ins	INS	pfam_Cleavage/polyA-sp_fac_asu_C	p.A229fs	ENST00000301764.7	37	c.686_685	CCDS31576.1	11																																																																																			DDB1	-	NULL	ENSG00000167986		0.490	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	DDB1	HGNC	protein_coding	OTTHUMT00000398816.1	14	0.00	0	-	NM_001923		61093159	61093160	-1	no_errors	ENST00000301764	ensembl	human	known	69_37n	frame_shift_ins	34	12.82	5	INS	1.000:1.000	C
DNAH1	25981	genome.wustl.edu	37	3	52417430	52417430	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A0DS-01A-11W-A071-09	TCGA-BH-A0DS-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee	fb5e6f04-b651-434e-901a-11d84eb99da7	g.chr3:52417430T>A	ENST00000420323.2	+	51	8231	c.7970T>A	c.(7969-7971)aTc>aAc	p.I2657N		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2657	AAA 4. {ECO:0000250}.				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)		CTGGAAGATATCAACAACGTC	0.542																																						dbGAP											0													85.0	82.0	83.0					3																	52417430		1984	4164	6148	-	-	-	SO:0001583	missense	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.7970T>A	3.37:g.52417430T>A	ENSP00000401514:p.Ile2657Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.I2657N	ENST00000420323.2	37	c.7970	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	T	23.2	4.393272	0.83011	.	.	ENSG00000114841	ENST00000420323	T	0.47177	0.85	4.87	4.87	0.63330	.	0.000000	0.53938	D	0.000054	T	0.79221	0.4409	H	0.97265	3.97	0.58432	D	0.999991	D	0.89917	1.0	D	0.80764	0.994	D	0.86918	0.2065	10	0.87932	D	0	.	14.642	0.68732	0.0:0.0:0.0:1.0	.	2657	C9JXH6	.	N	2657	ENSP00000401514:I2657N	ENSP00000401514:I2657N	I	+	2	0	DNAH1	52392470	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	7.596000	0.82721	2.042000	0.60477	0.533000	0.62120	ATC	DNAH1	-	NULL	ENSG00000114841		0.542	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	18	0.00	0	T	NM_015512		52417430	52417430	+1	no_errors	ENST00000420323	ensembl	human	known	69_37n	missense	13	59.38	19	SNP	1.000	A
EHMT2	10919	genome.wustl.edu	37	6	31864886	31864887	+	Intron	INS	-	-	C			TCGA-BH-A0DS-01A-11W-A071-09	TCGA-BH-A0DS-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee	fb5e6f04-b651-434e-901a-11d84eb99da7	g.chr6:31864886_31864887insC	ENST00000375537.4	-	2	49				EHMT2_ENST00000375528.4_Frame_Shift_Ins_p.P32fs|EHMT2_ENST00000395728.3_Frame_Shift_Ins_p.P32fs|EHMT2_ENST00000480912.1_5'Flank|C2_ENST00000469372.1_5'Flank|EHMT2_ENST00000375530.4_Intron	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2						DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CCTCTGTGGGGCCCCCCCCTTC	0.718																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.43-120->G	6.37:g.31864894_31864894dupC		Somatic		WXS	Illumina GAIIx	Phase_IV	B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Frame_Shift_Ins	INS	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.P31fs	ENST00000375537.4	37	c.94_93	CCDS4725.1	6																																																																																			EHMT2	-	NULL	ENSG00000204371		0.718	EHMT2-001	KNOWN	basic|CCDS	protein_coding	EHMT2	HGNC	protein_coding	OTTHUMT00000076355.5	13	0.00	0	-	NM_006709		31864886	31864887	-1	no_errors	ENST00000395728	ensembl	human	known	69_37n	frame_shift_ins	17	19.05	4	INS	0.000:0.001	C
ELAVL3	1995	genome.wustl.edu	37	19	11577604	11577605	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0DS-01A-11W-A071-09	TCGA-BH-A0DS-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee	fb5e6f04-b651-434e-901a-11d84eb99da7	g.chr19:11577604_11577605insC	ENST00000359227.3	-	2	471_472	c.47_48insG	c.(46-48)ggcfs	p.G16fs	RN7SL669P_ENST00000581926.1_RNA|ELAVL3_ENST00000438662.2_Frame_Shift_Ins_p.G16fs|CTC-398G3.6_ENST00000585656.1_Frame_Shift_Ins_p.G170fs	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	16					cell differentiation (GO:0030154)|nervous system development (GO:0007399)		AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						ggccggccgggcccccccccAC	0.649																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS32912.1, CCDS45978.1	19p13.2	2013-10-03	2013-10-03			ENSG00000196361		"""RNA binding motif (RRM) containing"""	3314	protein-coding gene	gene with protein product	"""Hu antigen C"", ""paraneoplastic limbic encephalitis antigen 21"", ""paraneoplastic cerebellar degeneration-associated antigen"", ""ELAV-like protein 3"""	603458	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)"""			9799595	Standard	NM_001420		Approved	HUC, PLE21, DKFZp547J036, HUCL, MGC20653	uc002mry.1	Q14576		ENST00000359227.3:c.48dupG	19.37:g.11577613_11577613dupC	ENSP00000352162:p.Gly16fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16135|Q96CL8|Q96QS9	Frame_Shift_Ins	INS	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.A18fs	ENST00000359227.3	37	c.48_47	CCDS32912.1	19																																																																																			ELAVL3	-	NULL	ENSG00000196361		0.649	ELAVL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELAVL3	HGNC	protein_coding	OTTHUMT00000458827.2	8	0.00	0	-	NM_001420		11577604	11577605	-1	no_errors	ENST00000359227	ensembl	human	known	69_37n	frame_shift_ins	33	25.00	11	INS	1.000:1.000	C
ESR1	2099	genome.wustl.edu	37	6	152201810	152201810	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DS-01A-11W-A071-09	TCGA-BH-A0DS-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee	fb5e6f04-b651-434e-901a-11d84eb99da7	g.chr6:152201810C>T	ENST00000206249.3	+	3	1026	c.664C>T	c.(664-666)Cca>Tca	p.P222S	ESR1_ENST00000456483.2_Missense_Mutation_p.P222S|ESR1_ENST00000427531.2_Missense_Mutation_p.P49S|ESR1_ENST00000338799.5_Missense_Mutation_p.P222S|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000443427.1_Missense_Mutation_p.P222S|ESR1_ENST00000440973.1_Missense_Mutation_p.P222S	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	222	Mediates interaction with DNTTIP2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	CTATATGTGTCCAGCCACCAA	0.448																																						dbGAP											0													68.0	68.0	68.0					6																	152201810		2203	4300	6503	-	-	-	SO:0001583	missense	0			X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.664C>T	6.37:g.152201810C>T	ENSP00000206249:p.Pro222Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	pfam_Oestr_rcpt,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_Oestr_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.P222S	ENST00000206249.3	37	c.664	CCDS5234.1	6	.	.	.	.	.	.	.	.	.	.	C	29.3	4.997487	0.93227	.	.	ENSG00000091831	ENST00000440973;ENST00000338799;ENST00000456483;ENST00000431219;ENST00000443427;ENST00000206249;ENST00000347491;ENST00000431590;ENST00000544394;ENST00000415488	D;D;D;D;D;D;D	0.97041	-4.22;-4.22;-4.22;-4.22;-4.22;-4.22;-4.22	5.42	5.42	0.78866	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.000000	0.85682	D	0.000000	D	0.97284	0.9112	L	0.38692	1.165	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	0.996;0.998;0.999;1.0;1.0	D	0.98593	1.0655	10	0.87932	D	0	.	19.2084	0.93744	0.0:1.0:0.0:0.0	.	3;29;222;222;222	E7EVR3;C8CJL6;A8KAF4;G4XH65;P03372	.;.;.;.;ESR1_HUMAN	S	222;222;222;3;222;222;47;150;49;7	ENSP00000405330:P222S;ENSP00000342630:P222S;ENSP00000415934:P222S;ENSP00000387500:P222S;ENSP00000206249:P222S;ENSP00000445454:P49S;ENSP00000401995:P7S	ENSP00000206249:P222S	P	+	1	0	ESR1	152243503	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.583000	0.82559	2.563000	0.86464	0.655000	0.94253	CCA	ESR1	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	ENSG00000091831		0.448	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESR1	HGNC	protein_coding	OTTHUMT00000043308.1	68	0.00	0	C			152201810	152201810	+1	no_errors	ENST00000206249	ensembl	human	known	69_37n	missense	83	34.65	44	SNP	1.000	T
GGPS1	9453	genome.wustl.edu	37	1	235505826	235505826	+	Silent	SNP	A	A	G			TCGA-BH-A0DS-01A-11W-A071-09	TCGA-BH-A0DS-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee	fb5e6f04-b651-434e-901a-11d84eb99da7	g.chr1:235505826A>G	ENST00000282841.5	+	4	874	c.642A>G	c.(640-642)tcA>tcG	p.S214S	GGPS1_ENST00000476121.1_Silent_p.S214S|GGPS1_ENST00000488594.1_Silent_p.S214S|GGPS1_ENST00000358966.2_Silent_p.S214S|GGPS1_ENST00000391855.2_Silent_p.S160S			O95749	GGPPS_HUMAN	geranylgeranyl diphosphate synthase 1	214					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|geranylgeranyl diphosphate biosynthetic process (GO:0033386)|isoprenoid metabolic process (GO:0006720)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	dimethylallyltranstransferase activity (GO:0004161)|farnesyltranstransferase activity (GO:0004311)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;1.39e-05)		Zoledronate(DB00399)	GAAAGTTCTCATTTCCTACTA	0.368																																						dbGAP											0													79.0	84.0	82.0					1																	235505826		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AB016043	CCDS1604.1	1q43	2010-04-27			ENSG00000152904	ENSG00000152904	2.5.1.1, 2.5.1.10, 2.5.1.29		4249	protein-coding gene	gene with protein product		606982				9741684, 10101267	Standard	NR_036605		Approved	GGPPS1	uc001hwv.3	O95749	OTTHUMG00000037963	ENST00000282841.5:c.642A>G	1.37:g.235505826A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MVQ8|Q5T2C8|Q6NW19	Silent	SNP	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	p.S214	ENST00000282841.5	37	c.642	CCDS1604.1	1																																																																																			GGPS1	-	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	ENSG00000152904		0.368	GGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGPS1	HGNC	protein_coding	OTTHUMT00000092656.1	106	0.00	0	A	NM_004837		235505826	235505826	+1	no_errors	ENST00000282841	ensembl	human	known	69_37n	silent	358	11.39	46	SNP	0.976	G
HIST1H2BB	3018	genome.wustl.edu	37	6	26043672	26043672	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DS-01A-11W-A071-09	TCGA-BH-A0DS-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee	fb5e6f04-b651-434e-901a-11d84eb99da7	g.chr6:26043672C>T	ENST00000357905.2	-	1	213	c.214G>A	c.(214-216)Gag>Aag	p.E72K	HIST1H3C_ENST00000540144.1_5'Flank	NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	72					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GCGATGCGCTCGAAGATGTCG	0.572																																						dbGAP											0													140.0	135.0	137.0					6																	26043672		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF531285	CCDS4575.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196226			"""Histones / Replication-dependent"""	4751	protein-coding gene	gene with protein product		602803	"""H2B histone family, member F"", ""histone 1, H2bb"""	H2BFF		8227173, 12408966	Standard	NM_021062		Approved	H2B/f	uc003nfu.3	P33778	OTTHUMG00000014421	ENST00000357905.2:c.214G>A	6.37:g.26043672C>T	ENSP00000350580:p.Glu72Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4KN36	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.E72K	ENST00000357905.2	37	c.214	CCDS4575.1	6	.	.	.	.	.	.	.	.	.	.	c	16.31	3.086617	0.55861	.	.	ENSG00000196226	ENST00000357905	T	0.27402	1.67	5.08	5.08	0.68730	Histone-fold (2);Histone core (1);	0.000000	0.64402	U	0.000019	T	0.27524	0.0676	M	0.78223	2.4	0.50171	D	0.999858	B	0.12013	0.005	B	0.14023	0.01	T	0.15407	-1.0438	10	0.62326	D	0.03	.	17.8155	0.88632	0.0:1.0:0.0:0.0	.	72	P33778	H2B1B_HUMAN	K	72	ENSP00000350580:E72K	ENSP00000350580:E72K	E	-	1	0	HIST1H2BB	26151651	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	7.779000	0.85648	2.498000	0.84270	0.467000	0.42956	GAG	HIST1H2BB	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	ENSG00000196226		0.572	HIST1H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BB	HGNC	protein_coding	OTTHUMT00000040083.1	83	0.00	0	C	NM_021062		26043672	26043672	-1	no_errors	ENST00000357905	ensembl	human	known	69_37n	missense	80	37.01	47	SNP	1.000	T
HNF4A	3172	genome.wustl.edu	37	20	43031282	43031282	+	Intron	SNP	G	G	A			TCGA-BH-A0DS-01A-11W-A071-09	TCGA-BH-A0DS-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee	fb5e6f04-b651-434e-901a-11d84eb99da7	g.chr20:43031282G>A	ENST00000316099.4	+	1	204				HNF4A_ENST00000415691.2_Intron|HNF4A_ENST00000316673.4_Intron|HNF4A_ENST00000457232.1_Intron|HNF4A_ENST00000443598.2_Intron|HNF4A_ENST00000609795.1_Intron	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha						blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TCTCCACAGGGAGGTAGGGGA	0.622																																					Colon(79;2 1269 8820 14841 52347)	dbGAP											0													25.0	22.0	23.0					20																	43031282		876	1991	2867	-	-	-	SO:0001627	intron_variant	0			X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.115+1155G>A	20.37:g.43031282G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Silent	SNP	NULL	p.G68	ENST00000316099.4	37	c.204	CCDS13330.1	20	.	.	.	.	.	.	.	.	.	.	G	6.332	0.429328	0.11987	.	.	ENSG00000101076	ENST00000338692	.	.	.	2.99	0.956	0.19608	.	.	.	.	.	T	0.12732	0.0309	.	.	.	0.09310	N	0.999998	B	0.21905	0.062	B	0.21151	0.033	T	0.33085	-0.9882	7	0.02654	T	1	.	4.2111	0.10512	0.1387:0.2401:0.6212:0.0	.	31	Q5QPB7	.	E	68	.	ENSP00000343807:G68E	G	+	2	0	HNF4A	42464696	0.238000	0.23825	0.000000	0.03702	0.147000	0.21601	1.060000	0.30530	0.302000	0.22762	0.491000	0.48974	GGA	HNF4A	-	NULL	ENSG00000101076		0.622	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF4A	HGNC	protein_coding	OTTHUMT00000079363.3	11	0.00	0	G			43031282	43031282	+1	no_errors	ENST00000372920	ensembl	human	known	69_37n	silent	17	34.62	9	SNP	0.000	A
HOXB3	3213	genome.wustl.edu	37	17	46629736	46629737	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A0DS-01A-11W-A071-09	TCGA-BH-A0DS-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee	fb5e6f04-b651-434e-901a-11d84eb99da7	g.chr17:46629736_46629737insG	ENST00000470495.1	-	1	1547_1548	c.100_101insC	c.(100-102)caafs	p.Q34fs	HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000311626.4_Frame_Shift_Ins_p.Q34fs|HOXB3_ENST00000485909.2_Intron|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000490677.1_Intron|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000498678.1_Frame_Shift_Ins_p.Q34fs|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000476342.1_Frame_Shift_Ins_p.Q34fs			P14651	HXB3_HUMAN	homeobox B3	34					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						AAATGGGGGTTGGGGGGGGACA	0.634																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"""Homeoboxes / ANTP class : HOXL subclass"""	5114	protein-coding gene	gene with protein product		142966	"""homeo box B3"""	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.101dupC	17.37:g.46629744_46629744dupG	ENSP00000417207:p.Gln34fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Frame_Shift_Ins	INS	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.Q34fs	ENST00000470495.1	37	c.101_100	CCDS11528.1	17																																																																																			HOXB3	-	NULL	ENSG00000120093		0.634	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB3	HGNC	protein_coding	OTTHUMT00000358261.1	17	0.00	0	-			46629736	46629737	-1	no_errors	ENST00000311626	ensembl	human	known	69_37n	frame_shift_ins	13	18.75	3	INS	1.000:1.000	G
IGHV4-28	28400	genome.wustl.edu	37	14	106780691	106780691	+	RNA	SNP	C	C	T			TCGA-BH-A0DS-01A-11W-A071-09	TCGA-BH-A0DS-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee	fb5e6f04-b651-434e-901a-11d84eb99da7	g.chr14:106780691C>T	ENST00000390612.2	-	0	244									immunoglobulin heavy variable 4-28																		TGGGGGCTGCCGGATCCAGCC	0.577																																						dbGAP											0													94.0	97.0	96.0					14																	106780691		1924	4122	6046	-	-	-			0			X05714		14q32.33	2012-02-08			ENSG00000211952	ENSG00000211952		"""Immunoglobulins / IGH locus"""	5645	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152062		14.37:g.106780691C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.R58Q	ENST00000390612.2	37	c.173		14																																																																																			IGHV4-28	-	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211952		0.577	IGHV4-28-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGHV4-28	HGNC	IG_V_gene	OTTHUMT00000325156.1	275	0.00	0	C	NG_001019		106780691	106780691	-1	no_stop_codon	ENST00000390612	ensembl	human	known	69_37n	missense	356	15.00	63	SNP	0.694	T
IQCF1	132141	genome.wustl.edu	37	3	51929268	51929268	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DS-01A-11W-A071-09	TCGA-BH-A0DS-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee	fb5e6f04-b651-434e-901a-11d84eb99da7	g.chr3:51929268G>A	ENST00000310914.5	-	4	318	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	86	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.									central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AACAGTGCCCGACGCACCAGG	0.562																																						dbGAP											0													45.0	48.0	47.0					3																	51929268		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC029595	CCDS2836.1	3p21.31	2008-02-05			ENSG00000173389	ENSG00000173389			28607	protein-coding gene	gene with protein product						12477932	Standard	NM_152397		Approved	MGC39725	uc003dbv.3	Q8N6M8	OTTHUMG00000156908	ENST00000310914.5:c.256C>T	3.37:g.51929268G>A	ENSP00000307958:p.Arg86Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N711	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.R86W	ENST00000310914.5	37	c.256	CCDS2836.1	3	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023034	0.54683	.	.	ENSG00000173389	ENST00000310914	T	0.34859	1.34	4.75	1.81	0.25067	.	0.145183	0.31660	N	0.007267	T	0.50411	0.1614	L	0.54323	1.7	0.09310	N	1	D	0.89917	1.0	D	0.74023	0.982	T	0.40979	-0.9534	10	0.87932	D	0	-4.7707	10.6968	0.45903	0.0:0.0:0.4598:0.5402	.	86	Q8N6M8	IQCF1_HUMAN	W	86	ENSP00000307958:R86W	ENSP00000307958:R86W	R	-	1	2	IQCF1	51904308	0.001000	0.12720	0.042000	0.18584	0.030000	0.12068	0.096000	0.15147	0.255000	0.21593	0.549000	0.68633	CGG	IQCF1	-	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	ENSG00000173389		0.562	IQCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCF1	HGNC	protein_coding	OTTHUMT00000346568.1	95	0.00	0	G	NM_152397		51929268	51929268	-1	no_errors	ENST00000310914	ensembl	human	known	69_37n	missense	83	44.67	67	SNP	0.067	A
BMS1P18	414763	genome.wustl.edu	37	14	19904366	19904366	+	lincRNA	SNP	C	C	T	rs201156189	byFrequency	TCGA-BH-A0DS-01A-11W-A071-09	TCGA-BH-A0DS-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee	fb5e6f04-b651-434e-901a-11d84eb99da7	g.chr14:19904366C>T	ENST00000552602.1	-	0	202				BMS1P18_ENST00000549877.1_lincRNA																							GTCAGGAACGCGGACCACAGG	0.488													C|||	722	0.144169	0.031	0.2205	5008	,	,		30540	0.1508		0.2326	False		,,,				2504	0.1452					dbGAP											0																																										-	-	-			0																															14.37:g.19904366C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000552602.1	37	NULL		14																																																																																			LINC00516	-	-	ENSG00000215394		0.488	CTD-2314B22.3-003	KNOWN	basic	lincRNA	LINC00516	HGNC	lincRNA	OTTHUMT00000409412.1	12	0.00	0	C			19904366	19904366	+1	no_errors	ENST00000549877	ensembl	human	known	69_37n	rna	37	28.85	15	SNP	1.000	T
LRIT1	26103	genome.wustl.edu	37	10	85991725	85991725	+	Silent	SNP	A	A	G			TCGA-BH-A0DS-01A-11W-A071-09	TCGA-BH-A0DS-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee	fb5e6f04-b651-434e-901a-11d84eb99da7	g.chr10:85991725A>G	ENST00000372105.3	-	4	1851	c.1830T>C	c.(1828-1830)ttT>ttC	p.F610F		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	610						integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						CTTTGACTCCAAAGGCCTGAA	0.577																																						dbGAP											0													76.0	59.0	65.0					10																	85991725		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.1830T>C	10.37:g.85991725A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0QD41|Q9Y4N7	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.F610	ENST00000372105.3	37	c.1830	CCDS7373.1	10																																																																																			LRIT1	-	NULL	ENSG00000148602		0.577	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT1	HGNC	protein_coding	OTTHUMT00000049109.1	10	0.00	0	A	NM_015613		85991725	85991725	-1	no_errors	ENST00000372105	ensembl	human	known	69_37n	silent	14	33.33	7	SNP	0.003	G
MIA3	375056	genome.wustl.edu	37	1	222803199	222803199	+	Silent	SNP	C	C	T	rs76329326	byFrequency	TCGA-BH-A0DS-01A-11W-A071-09	TCGA-BH-A0DS-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee	fb5e6f04-b651-434e-901a-11d84eb99da7	g.chr1:222803199C>T	ENST00000344922.5	+	4	2662	c.2637C>T	c.(2635-2637)gaC>gaT	p.D879D	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Silent_p.D879D|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	879					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CAAAAGAGGACCATGAGAACA	0.493																																						dbGAP											0													35.0	35.0	35.0					1																	222803199		1921	4128	6049	-	-	-	SO:0001819	synonymous_variant	0				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.2637C>T	1.37:g.222803199C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	NULL	p.P462S	ENST00000344922.5	37	c.1384	CCDS41470.1	1	.	.	.	.	.	.	.	.	.	.	c	3.937	-0.015002	0.07681	.	.	ENSG00000154305	ENST00000354906	.	.	.	5.03	0.0763	0.14402	.	.	.	.	.	T	0.20251	0.0487	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22208	-1.0223	4	.	.	.	.	1.2184	0.01918	0.2182:0.4102:0.1576:0.214	.	.	.	.	S	462	.	.	P	+	1	0	MIA3	220869822	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.267000	0.08619	0.116000	0.18110	0.457000	0.33378	CCA	MIA3	-	NULL	ENSG00000154305		0.493	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MIA3	HGNC	protein_coding	OTTHUMT00000091489.4	45	0.00	0	C	NM_198551		222803199	222803199	+1	no_start_codon:pseudogene:no_stop_codon	ENST00000354906	ensembl	human	known	69_37n	missense	190	15.56	35	SNP	0.000	T
MYH14	79784	genome.wustl.edu	37	19	50753926	50753926	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0DS-01A-11W-A071-09	TCGA-BH-A0DS-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee	fb5e6f04-b651-434e-901a-11d84eb99da7	g.chr19:50753926T>C	ENST00000596571.1	+	13	1787	c.1787T>C	c.(1786-1788)gTt>gCt	p.V596A	MYH14_ENST00000601313.1_Missense_Mutation_p.V604A|MYH14_ENST00000598205.1_Missense_Mutation_p.V604A|MYH14_ENST00000440075.2_Missense_Mutation_p.V604A|MYH14_ENST00000262269.8_Missense_Mutation_p.V604A|MYH14_ENST00000425460.1_Missense_Mutation_p.V604A|MYH14_ENST00000376970.2_Missense_Mutation_p.V596A			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	596	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GACTTCAGTGTTCTCCACTAC	0.652																																						dbGAP											0													37.0	45.0	42.0					19																	50753926		2081	4206	6287	-	-	-	SO:0001583	missense	0			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.1787T>C	19.37:g.50753926T>C	ENSP00000472819:p.Val596Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V604A	ENST00000596571.1	37	c.1811	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	T	17.60	3.430885	0.62844	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94	4.09	4.09	0.47781	Myosin head, motor domain (2);	.	.	.	.	D	0.85915	0.5808	H	0.96460	3.825	0.48571	D	0.999675	P;P;P	0.52463	0.953;0.784;0.744	P;P;B	0.51615	0.675;0.573;0.437	D	0.89606	0.3838	9	0.87932	D	0	.	11.3304	0.49473	0.0:0.0:0.0:1.0	.	604;596;604	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	A	596;604;596;604;596;604	ENSP00000406273:V604A;ENSP00000366169:V596A;ENSP00000407879:V604A;ENSP00000262269:V604A	ENSP00000262269:V604A	V	+	2	0	MYH14	55445738	1.000000	0.71417	0.999000	0.59377	0.504000	0.33889	7.783000	0.85696	1.852000	0.53769	0.459000	0.35465	GTT	MYH14	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000105357		0.652	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	HGNC	protein_coding	OTTHUMT00000464710.2	13	0.00	0	T	NM_024729		50753926	50753926	+1	no_errors	ENST00000262269	ensembl	human	known	69_37n	missense	24	29.41	10	SNP	1.000	C
NCKAP1L	3071	genome.wustl.edu	37	12	54925050	54925050	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DS-01A-11W-A071-09	TCGA-BH-A0DS-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee	fb5e6f04-b651-434e-901a-11d84eb99da7	g.chr12:54925050G>A	ENST00000293373.6	+	23	2592	c.2513G>A	c.(2512-2514)cGg>cAg	p.R838Q	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R788Q	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	838					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.R838P(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CCAGAGATGCGGGCCTTGGCA	0.473																																						dbGAP											1	Substitution - Missense(1)	lung(1)											112.0	119.0	117.0					12																	54925050		2203	4300	6503	-	-	-	SO:0001583	missense	0			AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.2513G>A	12.37:g.54925050G>A	ENSP00000293373:p.Arg838Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DUT5|Q52LW0	Missense_Mutation	SNP	pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd	p.R838Q	ENST00000293373.6	37	c.2513	CCDS31813.1	12	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180539	0.57800	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.34072	1.38;1.38	4.95	4.95	0.65309	.	0.206001	0.36815	N	0.002381	T	0.26159	0.0638	L	0.41710	1.295	0.45427	D	0.998406	B	0.29766	0.256	B	0.21708	0.036	T	0.04320	-1.0960	10	0.33141	T	0.24	-15.1396	9.4483	0.38710	0.094:0.0:0.906:0.0	.	838	P55160	NCKPL_HUMAN	Q	838;788	ENSP00000293373:R838Q;ENSP00000445596:R788Q	ENSP00000293373:R838Q	R	+	2	0	NCKAP1L	53211317	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.679000	0.46909	2.735000	0.93741	0.655000	0.94253	CGG	NCKAP1L	-	pfam_Nck-associated_protein-1	ENSG00000123338		0.473	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP1L	HGNC	protein_coding	OTTHUMT00000406195.1	163	0.00	0	G	NM_005337		54925050	54925050	+1	no_errors	ENST00000293373	ensembl	human	known	69_37n	missense	219	11.69	29	SNP	1.000	A
PCDH1	5097	genome.wustl.edu	37	5	141242814	141242815	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A0DS-01A-11W-A071-09	TCGA-BH-A0DS-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee	fb5e6f04-b651-434e-901a-11d84eb99da7	g.chr5:141242814_141242815insG	ENST00000394536.3	-	3	3220_3221	c.3081_3082insC	c.(3079-3084)cccaaafs	p.K1028fs	PCDH1_ENST00000456271.1_Frame_Shift_Ins_p.K1016fs|PCDH1_ENST00000536585.1_Frame_Shift_Ins_p.K1006fs|PCDH1_ENST00000287008.3_Frame_Shift_Ins_p.K1028fs|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000503492.1_Intron	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	1028					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CTGGGGTATTTGGGGGGGTTGG	0.634																																					Ovarian(132;1609 1739 4190 14731 45037)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.3082dupC	5.37:g.141242821_141242821dupG	ENSP00000378043:p.Lys1028fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IUP2	Frame_Shift_Ins	INS	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.K1027fs	ENST00000394536.3	37	c.3082_3081	CCDS43375.1	5																																																																																			PCDH1	-	pfam_Protocadherin	ENSG00000156453		0.634	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH1	HGNC	protein_coding	OTTHUMT00000251862.1	18	0.00	0	-	NM_032420		141242814	141242815	-1	no_errors	ENST00000287008	ensembl	human	known	69_37n	frame_shift_ins	24	11.11	3	INS	1.000:1.000	G
PIK3C2B	5287	genome.wustl.edu	37	1	204394861	204394861	+	Silent	SNP	G	G	A			TCGA-BH-A0DS-01A-11W-A071-09	TCGA-BH-A0DS-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee	fb5e6f04-b651-434e-901a-11d84eb99da7	g.chr1:204394861G>A	ENST00000367187.3	-	33	5152	c.4596C>T	c.(4594-4596)ctC>ctT	p.L1532L	PIK3C2B_ENST00000424712.2_Silent_p.L1504L|RP11-739N20.2_ENST00000443515.1_RNA	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1532	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|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)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TTCCATCCTGGAGCAGTTGCT	0.433																																						dbGAP											0													102.0	97.0	99.0					1																	204394861		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.4596C>T	1.37:g.204394861G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O95666|Q5SW99	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.L1532	ENST00000367187.3	37	c.4596	CCDS1446.1	1																																																																																			PIK3C2B	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000133056		0.433	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2B	HGNC	protein_coding	OTTHUMT00000087965.1	78	0.00	0	G	NM_002646		204394861	204394861	-1	no_errors	ENST00000367187	ensembl	human	known	69_37n	silent	175	19.72	43	SNP	0.998	A
PTCH1	5727	genome.wustl.edu	37	9	98218641	98218641	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DS-01A-11W-A071-09	TCGA-BH-A0DS-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee	fb5e6f04-b651-434e-901a-11d84eb99da7	g.chr9:98218641C>T	ENST00000331920.6	-	19	3522	c.3223G>A	c.(3223-3225)Gga>Aga	p.G1075R	PTCH1_ENST00000437951.1_Missense_Mutation_p.G1009R|PTCH1_ENST00000375274.2_Missense_Mutation_p.G1074R|PTCH1_ENST00000429896.2_Missense_Mutation_p.G924R|PTCH1_ENST00000418258.1_Missense_Mutation_p.G924R|PTCH1_ENST00000430669.2_Missense_Mutation_p.G1009R|PTCH1_ENST00000421141.1_Missense_Mutation_p.G924R	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1075					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.V1057_L1102del(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AGCTTGATTCCGATGAGGCCC	0.582																																						dbGAP											1	Deletion - In frame(1)	central_nervous_system(1)											131.0	96.0	108.0					9																	98218641		2203	4300	6503	-	-	-	SO:0001583	missense	0			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.3223G>A	9.37:g.98218641C>T	ENSP00000332353:p.Gly1075Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.G1075R	ENST00000331920.6	37	c.3223	CCDS6714.1	9	.	.	.	.	.	.	.	.	.	.	C	33	5.257101	0.95368	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000375275;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.97303	-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.98692	0.9561	M	0.88241	2.94	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	D	0.99320	1.0906	10	0.56958	D	0.05	-15.8901	18.9905	0.92789	0.0:1.0:0.0:0.0	.	1009;1074;1075	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	R	1075;1009;924;924;511;1009;924;1074	ENSP00000332353:G1075R;ENSP00000389744:G1009R;ENSP00000399981:G924R;ENSP00000396135:G924R;ENSP00000410287:G1009R;ENSP00000414823:G924R;ENSP00000364423:G1074R	ENSP00000332353:G1075R	G	-	1	0	PTCH1	97258462	1.000000	0.71417	0.998000	0.56505	0.892000	0.51952	5.771000	0.68881	2.505000	0.84491	0.561000	0.74099	GGA	PTCH1	-	pfam_Patched,tigrfam_TM_rcpt_patched	ENSG00000185920		0.582	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCH1	HGNC	protein_coding	OTTHUMT00000053229.2	21	0.00	0	C	NM_000264		98218641	98218641	-1	no_errors	ENST00000331920	ensembl	human	known	69_37n	missense	21	36.36	12	SNP	1.000	T
RIMS2	9699	genome.wustl.edu	37	8	104933950	104933950	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0DS-01A-11W-A071-09	TCGA-BH-A0DS-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee	fb5e6f04-b651-434e-901a-11d84eb99da7	g.chr8:104933950A>G	ENST00000436393.2	+	8	1709	c.1468A>G	c.(1468-1470)Acc>Gcc	p.T490A	RIMS2_ENST00000406091.3_Missense_Mutation_p.T712A|RIMS2_ENST00000507740.1_Missense_Mutation_p.T520A|RIMS2_ENST00000262231.10_Missense_Mutation_p.T567A			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	790					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TATTTCTGTTACCTCTCCCAT	0.373										HNSCC(12;0.0054)																												dbGAP											0													180.0	168.0	172.0					8																	104933950		1851	4104	5955	-	-	-	SO:0001583	missense	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1468A>G	8.37:g.104933950A>G	ENSP00000390665:p.Thr490Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.T712A	ENST00000436393.2	37	c.2134		8	.	.	.	.	.	.	.	.	.	.	A	22.2	4.261566	0.80358	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.20598	2.06;2.58;2.16;2.18;2.19;2.13;2.54	5.85	5.85	0.93711	.	.	.	.	.	T	0.32941	0.0846	N	0.19112	0.55	0.80722	D	1	P;P;D;P;P;D	0.63046	0.865;0.841;0.992;0.876;0.935;0.979	P;P;D;P;P;D	0.77004	0.599;0.693;0.989;0.672;0.821;0.914	T	0.13442	-1.0509	9	0.56958	D	0.05	.	16.2291	0.82321	1.0:0.0:0.0:0.0	.	790;790;490;567;520;712	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	A	712;743;712;790;520;567;520;520;490	ENSP00000427018:T712A;ENSP00000384892:T712A;ENSP00000425205:T520A;ENSP00000262231:T567A;ENSP00000423559:T520A;ENSP00000386228:T520A;ENSP00000390665:T490A	ENSP00000262231:T567A	T	+	1	0	RIMS2	105003126	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.251000	0.95483	2.238000	0.73509	0.528000	0.53228	ACC	RIMS2	-	NULL	ENSG00000176406		0.373	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1	100	0.00	0	A	NM_001100117		104933950	104933950	+1	no_errors	ENST00000406091	ensembl	human	known	69_37n	missense	321	17.05	66	SNP	1.000	G
ROR2	4920	genome.wustl.edu	37	9	94493291	94493292	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0DS-01A-11W-A071-09	TCGA-BH-A0DS-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee	fb5e6f04-b651-434e-901a-11d84eb99da7	g.chr9:94493291_94493292insC	ENST00000375708.3	-	7	1281_1282	c.1083_1084insG	c.(1081-1086)gggcacfs	p.H362fs	ROR2_ENST00000375715.1_Frame_Shift_Ins_p.H222fs|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	362	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CAGTAGGCGTGCCCCCCTCCAA	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.1084dupG	9.37:g.94493297_94493297dupC	ENSP00000364860:p.His362fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Frame_Shift_Ins	INS	pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.H361fs	ENST00000375708.3	37	c.1084_1083	CCDS6691.1	9																																																																																			ROR2	-	pirsf_Tyr_kinase_rcpt_ROR,pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle	ENSG00000169071		0.629	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR2	HGNC	protein_coding	OTTHUMT00000053040.1	26	0.00	0	-			94493291	94493292	-1	no_errors	ENST00000375708	ensembl	human	known	69_37n	frame_shift_ins	26	10.34	3	INS	1.000:0.825	C
SH2B3	10019	genome.wustl.edu	37	12	111885304	111885304	+	Missense_Mutation	SNP	C	C	T	rs559278672		TCGA-BH-A0DS-01A-11W-A071-09	TCGA-BH-A0DS-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee	fb5e6f04-b651-434e-901a-11d84eb99da7	g.chr12:111885304C>T	ENST00000341259.2	+	6	1549	c.1192C>T	c.(1192-1194)Cgt>Tgt	p.R398C	SH2B3_ENST00000538307.1_Missense_Mutation_p.R196C	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	398	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic hemopoiesis (GO:0035162)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)	phosphate ion binding (GO:0042301)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10					Pazopanib(DB06589)	CGAGACGCGGCGTGGGGAATA	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		14995	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													57.0	62.0	61.0					12																	111885304		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF055581	CCDS9153.1	12q24.12	2014-09-17				ENSG00000111252		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	29605	protein-coding gene	gene with protein product	"""lymphocyte adaptor protein"""	605093				10799879	Standard	NM_005475		Approved	LNK, IDDM20	uc001tse.3	Q9UQQ2		ENST00000341259.2:c.1192C>T	12.37:g.111885304C>T	ENSP00000345492:p.Arg398Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGG5|O95184	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.R196C	ENST00000341259.2	37	c.586	CCDS9153.1	12	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577289	0.65878	.	.	ENSG00000111252	ENST00000341259;ENST00000551001;ENST00000538307	T;T	0.54866	0.55;0.55	5.0	4.08	0.47627	SH2 motif (5);	0.000000	0.85682	D	0.000000	T	0.69405	0.3107	M	0.72576	2.205	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.967;0.981;0.995	T	0.72587	-0.4248	10	0.72032	D	0.01	-22.3976	12.4138	0.55481	0.4481:0.5519:0.0:0.0	.	196;262;398	F5GYM4;Q59H48;Q9UQQ2	.;.;SH2B3_HUMAN	C	398;208;196	ENSP00000345492:R398C;ENSP00000440597:R196C	ENSP00000345492:R398C	R	+	1	0	SH2B3	110369687	0.456000	0.25744	0.984000	0.44739	0.953000	0.61014	0.876000	0.28092	1.174000	0.42811	0.462000	0.41574	CGT	SH2B3	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	ENSG00000111252		0.632	SH2B3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	SH2B3	HGNC	protein_coding	OTTHUMT00000404779.1	53	0.00	0	C	NM_005475		111885304	111885304	+1	no_errors	ENST00000538307	ensembl	human	known	69_37n	missense	51	32.89	25	SNP	0.984	T
SMCHD1	23347	genome.wustl.edu	37	18	2722567	2722567	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0DS-01A-11W-A071-09	TCGA-BH-A0DS-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee	fb5e6f04-b651-434e-901a-11d84eb99da7	g.chr18:2722567G>T	ENST00000320876.6	+	20	2847	c.2509G>T	c.(2509-2511)Gtt>Ttt	p.V837F	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.V837F	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	837					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TCCTTTTCGTGTTGGAGTTCC	0.358																																						dbGAP											0													180.0	165.0	170.0					18																	2722567		1821	4079	5900	-	-	-	SO:0001583	missense	0			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.2509G>T	18.37:g.2722567G>T	ENSP00000326603:p.Val837Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge	p.V837F	ENST00000320876.6	37	c.2509	CCDS45822.1	18	.	.	.	.	.	.	.	.	.	.	G	21.4	4.150827	0.78001	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.38240	1.15;1.16	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.45716	0.1356	L	0.34521	1.04	0.41707	D	0.989437	D	0.65815	0.995	P	0.60345	0.873	T	0.43376	-0.9395	10	0.87932	D	0	-20.6917	14.6715	0.68948	0.072:0.0:0.928:0.0	.	837	A6NHR9	SMHD1_HUMAN	F	837	ENSP00000326603:V837F;ENSP00000261598:V837F	ENSP00000261598:V837F	V	+	1	0	SMCHD1	2712567	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	5.170000	0.64990	2.657000	0.90304	0.655000	0.94253	GTT	SMCHD1	-	NULL	ENSG00000101596		0.358	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCHD1	HGNC	protein_coding	OTTHUMT00000441082.2	125	0.00	0	G			2722567	2722567	+1	no_errors	ENST00000320876	ensembl	human	known	69_37n	missense	179	14.29	30	SNP	1.000	T
SNHG14	104472715	genome.wustl.edu	37	15	25468428	25468428	+	RNA	SNP	G	G	A			TCGA-BH-A0DS-01A-11W-A071-09	TCGA-BH-A0DS-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee	fb5e6f04-b651-434e-901a-11d84eb99da7	g.chr15:25468428G>A	ENST00000424208.1	+	0	6332				SNORD115-29_ENST00000362834.1_RNA|SNORD115-27_ENST00000364430.1_RNA|SNHG14_ENST00000453082.2_RNA|SNORD115-28_ENST00000363931.1_RNA|SNORD115-30_ENST00000364117.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		GTCCTGAAGAGAGGTGATGAC	0.517																																						dbGAP											0													373.0	400.0	392.0					15																	25468428		876	1989	2865	-	-	-			0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25468428G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000424208.1	37	NULL		15																																																																																			SNORD115-29	-	-	ENSG00000199704		0.517	SNHG14-002	KNOWN	basic	antisense	SNORD115-29	HGNC	processed_transcript	OTTHUMT00000126729.2	48	0.00	0	G			25468428	25468428	+1	no_errors	ENST00000362834	ensembl	human	known	69_37n	rna	78	17.89	17	SNP	0.428	A
STAU2	27067	genome.wustl.edu	37	8	74585370	74585370	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A0DS-01A-11W-A071-09	TCGA-BH-A0DS-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee	fb5e6f04-b651-434e-901a-11d84eb99da7	g.chr8:74585370delA	ENST00000521419.1	-	5	574	c.268delT	c.(268-270)tacfs	p.Y90fs	STAU2_ENST00000522509.1_Frame_Shift_Del_p.Y96fs|RP11-463D19.1_ENST00000533978.1_lincRNA|STAU2_ENST00000521210.1_Frame_Shift_Del_p.Y24fs|STAU2_ENST00000521451.1_Intron|STAU2_ENST00000524104.1_Frame_Shift_Del_p.Y96fs|STAU2_ENST00000522962.1_5'UTR|STAU2_ENST00000521727.1_Frame_Shift_Del_p.Y108fs|STAU2_ENST00000524300.1_Frame_Shift_Del_p.Y128fs|STAU2_ENST00000519961.1_Frame_Shift_Del_p.Y128fs|STAU2_ENST00000523558.1_Intron|STAU2_ENST00000517542.1_Frame_Shift_Del_p.Y90fs|STAU2_ENST00000355780.5_Frame_Shift_Del_p.Y96fs|STAU2_ENST00000522695.1_Frame_Shift_Del_p.Y96fs			Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	128					transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			CGAAAGTTGTAATTAGCTCTA	0.373																																						dbGAP											0													105.0	100.0	102.0					8																	74585370		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"""staufen (Drosophila, RNA-binding protein) homolog 2"", ""staufen, RNA binding protein, homolog 2 (Drosophila)"""			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000521419.1:c.268delT	8.37:g.74585370delA	ENSP00000428681:p.Tyr90fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Frame_Shift_Del	DEL	pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	p.Y128fs	ENST00000521419.1	37	c.382		8																																																																																			STAU2	-	smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	ENSG00000040341		0.373	STAU2-013	PUTATIVE	basic|exp_conf	protein_coding	STAU2	HGNC	protein_coding	OTTHUMT00000379012.2	143	0.00	0	A	NM_001164380		74585370	74585370	-1	no_errors	ENST00000524300	ensembl	human	known	69_37n	frame_shift_del	446	22.87	134	DEL	1.000	-
TMEM132D	121256	genome.wustl.edu	37	12	130184704	130184705	+	Frame_Shift_Ins	INS	-	-	G	rs372463803		TCGA-BH-A0DS-01A-11W-A071-09	TCGA-BH-A0DS-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee	fb5e6f04-b651-434e-901a-11d84eb99da7	g.chr12:130184704_130184705insG	ENST00000422113.2	-	2	944_945	c.618_619insC	c.(616-621)cccacgfs	p.T207fs	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	207					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GCAACCACCGTGGGGGGGCTGA	0.708																																						dbGAP											0										15,4239		0,15,2112						2.9	0.0		dbSNP_130	22	15,8215		0,15,4100	no	frameshift	TMEM132D	NM_133448.2		0,30,6212	A1A1,A1R,RR		0.1823,0.3526,0.2403				30,12454				-	-	-	SO:0001589	frameshift_variant	0			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.619dupC	12.37:g.130184711_130184711dupG	ENSP00000408581:p.Thr207fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Frame_Shift_Ins	INS	NULL	p.T206fs	ENST00000422113.2	37	c.619_618	CCDS9266.1	12																																																																																			TMEM132D	-	NULL	ENSG00000151952		0.708	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	HGNC	protein_coding	OTTHUMT00000399592.1	17	0.00	0	-	NM_133448		130184704	130184705	-1	no_errors	ENST00000422113	ensembl	human	known	69_37n	frame_shift_ins	16	11.11	2	INS	0.073:0.027	G
TRPM8	79054	genome.wustl.edu	37	2	234878392	234878392	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0DS-01A-11W-A071-09	TCGA-BH-A0DS-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee	fb5e6f04-b651-434e-901a-11d84eb99da7	g.chr2:234878392G>A	ENST00000324695.4	+	16	2119	c.2079G>A	c.(2077-2079)tgG>tgA	p.W693*	TRPM8_ENST00000433712.2_Intron	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	693				W -> R (in Ref. 7; BAB86335). {ECO:0000305}.	calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CCAAGAACTGGAAGATTATCC	0.413																																						dbGAP											0													247.0	221.0	230.0					2																	234878392		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.2079G>A	2.37:g.234878392G>A	ENSP00000323926:p.Trp693*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Nonsense_Mutation	SNP	pfam_Ion_trans_dom	p.W693*	ENST00000324695.4	37	c.2079	CCDS33407.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.624453	0.98396	.	.	ENSG00000144481	ENST00000324695	.	.	.	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.9112	18.0326	0.89290	0.0:0.0:1.0:0.0	.	.	.	.	X	693	.	ENSP00000323926:W693X	W	+	3	0	TRPM8	234543131	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.241000	0.78201	2.604000	0.88044	0.558000	0.71614	TGG	TRPM8	-	NULL	ENSG00000144481		0.413	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM8	HGNC	protein_coding	OTTHUMT00000131005.4	42	0.00	0	G	NM_024080		234878392	234878392	+1	no_errors	ENST00000324695	ensembl	human	known	69_37n	nonsense	55	39.56	36	SNP	1.000	A
TTLL5	23093	genome.wustl.edu	37	14	76232419	76232419	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DS-01A-11W-A071-09	TCGA-BH-A0DS-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee	fb5e6f04-b651-434e-901a-11d84eb99da7	g.chr14:76232419G>A	ENST00000298832.9	+	20	1928	c.1723G>A	c.(1723-1725)Gct>Act	p.A575T	TTLL5_ENST00000557636.1_Missense_Mutation_p.A589T|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000554510.1_Missense_Mutation_p.A84T|TTLL5_ENST00000556893.1_Missense_Mutation_p.A126T	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	575					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TACCCAACCAGCTGAAATGAA	0.388																																						dbGAP											0													72.0	70.0	70.0					14																	76232419		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.1723G>A	14.37:g.76232419G>A	ENSP00000298832:p.Ala575Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.A575T	ENST00000298832.9	37	c.1723	CCDS32124.1	14	.	.	.	.	.	.	.	.	.	.	G	9.829	1.187798	0.21954	.	.	ENSG00000119685	ENST00000418433;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	T;T;T;T	0.22743	3.99;4.1;1.96;1.94	4.95	4.95	0.65309	.	0.767403	0.12595	N	0.455234	T	0.11707	0.0285	N	0.15975	0.35	0.25416	N	0.988312	B;B;B	0.20671	0.005;0.047;0.029	B;B;B	0.17098	0.016;0.017;0.007	T	0.22208	-1.0223	10	0.18710	T	0.47	.	8.0322	0.30472	0.1477:0.0:0.8523:0.0	.	589;126;575	G3V2J9;Q6EMB2-2;Q6EMB2	.;.;TTLL5_HUMAN	T	262;589;575;126;126;84	ENSP00000450713:A589T;ENSP00000298832:A575T;ENSP00000452524:A126T;ENSP00000451946:A84T	ENSP00000298832:A575T	A	+	1	0	TTLL5	75302172	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.489000	0.45285	2.317000	0.78254	0.558000	0.71614	GCT	TTLL5	-	NULL	ENSG00000119685		0.388	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL5	HGNC	protein_coding	OTTHUMT00000414453.1	90	0.00	0	G	NM_015072		76232419	76232419	+1	no_errors	ENST00000298832	ensembl	human	known	69_37n	missense	91	48.30	85	SNP	1.000	A
UNC79	57578	genome.wustl.edu	37	14	94088208	94088208	+	Silent	SNP	C	C	T			TCGA-BH-A0DS-01A-11W-A071-09	TCGA-BH-A0DS-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee	fb5e6f04-b651-434e-901a-11d84eb99da7	g.chr14:94088208C>T	ENST00000393151.2	+	30	4629	c.4629C>T	c.(4627-4629)aaC>aaT	p.N1543N	UNC79_ENST00000555664.1_Silent_p.N1543N|UNC79_ENST00000256339.4_Silent_p.N1366N|UNC79_ENST00000553484.1_Silent_p.N1565N			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1543					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AAAGACCAAACGACCCTGGAC	0.498																																						dbGAP											0													86.0	79.0	81.0					14																	94088208		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.4629C>T	14.37:g.94088208C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDL6|Q6ZUT7	Silent	SNP	superfamily_ARM-type_fold	p.N1565	ENST00000393151.2	37	c.4695		14																																																																																			UNC79	-	superfamily_ARM-type_fold	ENSG00000133958		0.498	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1	245	0.00	0	C	XM_028395		94088208	94088208	+1	no_errors	ENST00000553484	ensembl	human	known	69_37n	silent	318	18.46	72	SNP	0.001	T
ZNF644	84146	genome.wustl.edu	37	1	91405737	91405737	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A0DS-01A-11W-A071-09	TCGA-BH-A0DS-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6cfb5de9-ef59-4bc0-9ec2-f9bd5a9f2aee	fb5e6f04-b651-434e-901a-11d84eb99da7	g.chr1:91405737C>A	ENST00000370440.1	-	3	1391	c.1174G>T	c.(1174-1176)Gaa>Taa	p.E392*	ZNF644_ENST00000337393.5_Nonsense_Mutation_p.E392*|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	392					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TCACTCTCTTCACATTTCTTT	0.393																																						dbGAP											0													102.0	101.0	101.0					1																	91405737		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.1174G>T	1.37:g.91405737C>A	ENSP00000359469:p.Glu392*	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E392*	ENST00000370440.1	37	c.1174	CCDS731.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.508280	0.96386	.	.	ENSG00000122482	ENST00000370440;ENST00000337393	.	.	.	5.58	5.58	0.84498	.	0.255051	0.41294	D	0.000904	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-18.4616	17.7541	0.88444	0.0:1.0:0.0:0.0	.	.	.	.	X	392	.	ENSP00000337008:E392X	E	-	1	0	ZNF644	91178325	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.780000	0.55386	2.636000	0.89361	0.655000	0.94253	GAA	ZNF644	-	NULL	ENSG00000122482		0.393	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF644	HGNC	protein_coding	OTTHUMT00000027846.2	136	0.00	0	C	NM_032186		91405737	91405737	-1	no_errors	ENST00000337393	ensembl	human	known	69_37n	nonsense	147	36.09	83	SNP	1.000	A
