#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABHD16A	7920	genome.wustl.edu	37	6	31670940	31670941	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr6:31670940_31670941insG	ENST00000395952.3	-	1	280_281	c.118_119insC	c.(118-120)catfs	p.H40fs	MIR4646_ENST00000580775.1_RNA|ABHD16A_ENST00000375842.4_5'Flank|ABHD16A_ENST00000440843.2_5'Flank|XXbac-BPG32J3.20_ENST00000461287.1_Intron|ABHD16A_ENST00000538874.1_5'UTR	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	40						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						GGAGCTGGAATGGGGGGCAGTG	0.609																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF129756	CCDS4713.1, CCDS54988.1	6p21.3	2013-01-17	2010-12-09	2010-12-09	ENSG00000204427	ENSG00000204427		"""Abhydrolase domain containing"""	13921	protein-coding gene	gene with protein product		142620	"""HLA-B associated transcript 5"""	BAT5		2911734, 2813433	Standard	NM_021160		Approved	NG26, D6S82E	uc003nvy.2	O95870	OTTHUMG00000031177	ENST00000395952.3:c.119dupC	6.37:g.31670946_31670946dupG	ENSP00000379282:p.His40fs		A2BEY3|B7Z4R6|Q5SRR1|Q5SRR2|Q8WYH0|Q9NW33	Frame_Shift_Ins	INS	pfam_AB_hydrolase_1	p.H40fs	ENST00000395952.3	37	c.119_118	CCDS4713.1	6																																																																																			ABHD16A	-	NULL	ENSG00000204427		0.609	ABHD16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD16A	HGNC	protein_coding	OTTHUMT00000076342.4	18	0.00	0	-			31670940	31670941	-1	no_errors	ENST00000395952	ensembl	human	known	69_37n	frame_shift_ins	21	12.50	3	INS	0.057:0.115	G
AHDC1	27245	genome.wustl.edu	37	1	27878126	27878126	+	Silent	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr1:27878126G>A	ENST00000247087.5	-	5	1097	c.501C>T	c.(499-501)ttC>ttT	p.F167F	AHDC1_ENST00000374011.2_Silent_p.F167F			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	167	Pro-rich.						DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GTGAGGAGAAGAAGCTGTACT	0.662																																						dbGAP											0													92.0	99.0	97.0					1																	27878126		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.501C>T	1.37:g.27878126G>A			Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Silent	SNP	NULL	p.F167	ENST00000247087.5	37	c.501	CCDS30652.1	1																																																																																			AHDC1	-	NULL	ENSG00000126705		0.662	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHDC1	HGNC	protein_coding	OTTHUMT00000009523.3	92	0.00	0	G			27878126	27878126	-1	no_errors	ENST00000247087	ensembl	human	known	69_37n	silent	16	23.81	5	SNP	1.000	A
AHDC1	27245	genome.wustl.edu	37	1	27878126	27878126	+	Silent	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr1:27878126G>A	ENST00000247087.5	-	5	1097	c.501C>T	c.(499-501)ttC>ttT	p.F167F	AHDC1_ENST00000374011.2_Silent_p.F167F			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	167	Pro-rich.						DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GTGAGGAGAAGAAGCTGTACT	0.662																																						dbGAP											0													92.0	99.0	97.0					1																	27878126		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.501C>T	1.37:g.27878126G>A			Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Silent	SNP	NULL	p.F167	ENST00000247087.5	37	c.501	CCDS30652.1	1																																																																																			AHDC1	-	NULL	ENSG00000126705		0.662	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHDC1	HGNC	protein_coding	OTTHUMT00000009523.3	19	0.00	0	G			27878126	27878126	-1	no_errors	ENST00000247087	ensembl	human	known	69_37n	silent	16	23.81	5	SNP	1.000	A
AHNAK2	113146	genome.wustl.edu	37	14	105420827	105420827	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr14:105420827G>A	ENST00000333244.5	-	7	1080	c.961C>T	c.(961-963)Cgg>Tgg	p.R321W	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	321						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGGAACTTCCGCCTCCTCTGG	0.647																																						dbGAP											0													28.0	32.0	31.0					14																	105420827		2121	4210	6331	-	-	-	SO:0001583	missense	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.961C>T	14.37:g.105420827G>A	ENSP00000353114:p.Arg321Trp		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R321W	ENST00000333244.5	37	c.961	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	g	15.42	2.827769	0.50845	.	.	ENSG00000185567	ENST00000333244	T	0.03772	3.81	4.94	0.852	0.18995	.	.	.	.	.	T	0.12561	0.0305	L	0.48642	1.525	0.09310	N	1	D	0.89917	1.0	D	0.70227	0.968	T	0.13308	-1.0514	9	0.66056	D	0.02	.	8.5559	0.33480	0.1195:0.0:0.5461:0.3343	.	321	Q8IVF2	AHNK2_HUMAN	W	321	ENSP00000353114:R321W	ENSP00000353114:R321W	R	-	1	2	AHNAK2	104491872	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.207000	0.17395	0.304000	0.22809	-0.410000	0.06199	CGG	AHNAK2	-	NULL	ENSG00000185567		0.647	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	14	0.00	0	G	NM_138420		105420827	105420827	-1	no_errors	ENST00000333244	ensembl	human	known	69_37n	missense	10	38.89	7	SNP	0.000	A
AMBRA1	55626	genome.wustl.edu	37	11	46567261	46567261	+	Silent	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr11:46567261C>T	ENST00000458649.2	-	5	862	c.444G>A	c.(442-444)acG>acA	p.T148T	AMBRA1_ENST00000533727.1_Silent_p.T148T|AMBRA1_ENST00000426438.1_Silent_p.T148T|AMBRA1_ENST00000528950.1_Silent_p.T148T|AMBRA1_ENST00000298834.3_Silent_p.T148T|AMBRA1_ENST00000314845.3_Silent_p.T148T|AMBRA1_ENST00000534300.1_Silent_p.T148T			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	148					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GGAGCTGAGCCGTAGGGTGGA	0.517																																						dbGAP											0													106.0	88.0	94.0					11																	46567261		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.444G>A	11.37:g.46567261C>T			A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T148	ENST00000458649.2	37	c.444		11																																																																																			AMBRA1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000110497		0.517	AMBRA1-005	KNOWN	basic	protein_coding	AMBRA1	HGNC	protein_coding	OTTHUMT00000390103.1	107	0.00	0	C	NM_017749		46567261	46567261	-1	no_errors	ENST00000458649	ensembl	human	known	69_37n	silent	57	42.00	42	SNP	1.000	T
AMBRA1	55626	genome.wustl.edu	37	11	46567261	46567261	+	Silent	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr11:46567261C>T	ENST00000458649.2	-	5	862	c.444G>A	c.(442-444)acG>acA	p.T148T	AMBRA1_ENST00000533727.1_Silent_p.T148T|AMBRA1_ENST00000426438.1_Silent_p.T148T|AMBRA1_ENST00000528950.1_Silent_p.T148T|AMBRA1_ENST00000298834.3_Silent_p.T148T|AMBRA1_ENST00000314845.3_Silent_p.T148T|AMBRA1_ENST00000534300.1_Silent_p.T148T			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	148					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GGAGCTGAGCCGTAGGGTGGA	0.517																																						dbGAP											0													106.0	88.0	94.0					11																	46567261		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.444G>A	11.37:g.46567261C>T			A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T148	ENST00000458649.2	37	c.444		11																																																																																			AMBRA1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000110497		0.517	AMBRA1-005	KNOWN	basic	protein_coding	AMBRA1	HGNC	protein_coding	OTTHUMT00000390103.1	105	0.00	0	C	NM_017749		46567261	46567261	-1	no_errors	ENST00000458649	ensembl	human	known	69_37n	silent	57	42.00	42	SNP	1.000	T
ANKRD32	84250	genome.wustl.edu	37	5	94030568	94030568	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr5:94030568G>A	ENST00000265140.5	+	21	3147	c.2728G>A	c.(2728-2730)Gga>Aga	p.G910R	ANKRD32_ENST00000493934.1_Intron	NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	910						centrosome (GO:0005813)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		GAATGCTAAGGGAGAATTGCC	0.373																																						dbGAP											0													95.0	94.0	94.0					5																	94030568		2203	4298	6501	-	-	-	SO:0001583	missense	0			AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"""Ankyrin repeat domain containing"""	25408	protein-coding gene	gene with protein product			"""BRCT domain containing 1"""	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.2728G>A	5.37:g.94030568G>A	ENSP00000265140:p.Gly910Arg		B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G910R	ENST00000265140.5	37	c.2728	CCDS4071.2	5	.	.	.	.	.	.	.	.	.	.	G	19.34	3.807999	0.70797	.	.	ENSG00000133302	ENST00000265140	T	0.79141	-1.24	5.62	5.62	0.85841	Ankyrin repeat-containing domain (3);	0.126199	0.56097	D	0.000034	D	0.90714	0.7086	M	0.90814	3.15	0.45342	D	0.998336	D	0.89917	1.0	D	0.81914	0.995	D	0.92044	0.5643	10	0.87932	D	0	.	19.6593	0.95859	0.0:0.0:1.0:0.0	.	910	Q9BQI6	ANR32_HUMAN	R	910	ENSP00000265140:G910R	ENSP00000265140:G910R	G	+	1	0	ANKRD32	94056324	1.000000	0.71417	0.917000	0.36280	0.553000	0.35397	6.778000	0.75043	2.660000	0.90430	0.585000	0.79938	GGA	ANKRD32	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000133302		0.373	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD32	HGNC	protein_coding	OTTHUMT00000241610.1	150	0.00	0	G	NM_032290		94030568	94030568	+1	no_errors	ENST00000265140	ensembl	human	known	69_37n	missense	97	34.46	51	SNP	0.980	A
ANKRD32	84250	genome.wustl.edu	37	5	94030568	94030568	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr5:94030568G>A	ENST00000265140.5	+	21	3147	c.2728G>A	c.(2728-2730)Gga>Aga	p.G910R	ANKRD32_ENST00000493934.1_Intron	NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	910						centrosome (GO:0005813)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		GAATGCTAAGGGAGAATTGCC	0.373																																						dbGAP											0													95.0	94.0	94.0					5																	94030568		2203	4298	6501	-	-	-	SO:0001583	missense	0			AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"""Ankyrin repeat domain containing"""	25408	protein-coding gene	gene with protein product			"""BRCT domain containing 1"""	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.2728G>A	5.37:g.94030568G>A	ENSP00000265140:p.Gly910Arg		B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G910R	ENST00000265140.5	37	c.2728	CCDS4071.2	5	.	.	.	.	.	.	.	.	.	.	G	19.34	3.807999	0.70797	.	.	ENSG00000133302	ENST00000265140	T	0.79141	-1.24	5.62	5.62	0.85841	Ankyrin repeat-containing domain (3);	0.126199	0.56097	D	0.000034	D	0.90714	0.7086	M	0.90814	3.15	0.45342	D	0.998336	D	0.89917	1.0	D	0.81914	0.995	D	0.92044	0.5643	10	0.87932	D	0	.	19.6593	0.95859	0.0:0.0:1.0:0.0	.	910	Q9BQI6	ANR32_HUMAN	R	910	ENSP00000265140:G910R	ENSP00000265140:G910R	G	+	1	0	ANKRD32	94056324	1.000000	0.71417	0.917000	0.36280	0.553000	0.35397	6.778000	0.75043	2.660000	0.90430	0.585000	0.79938	GGA	ANKRD32	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000133302		0.373	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD32	HGNC	protein_coding	OTTHUMT00000241610.1	72	0.00	0	G	NM_032290		94030568	94030568	+1	no_errors	ENST00000265140	ensembl	human	known	69_37n	missense	97	34.46	51	SNP	0.980	A
ATG4A	115201	genome.wustl.edu	37	X	107381041	107381041	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chrX:107381041G>A	ENST00000372232.3	+	8	714	c.555G>A	c.(553-555)atG>atA	p.M185I	ATG4A_ENST00000345734.3_Missense_Mutation_p.M185I|ATG4A_ENST00000372254.3_Missense_Mutation_p.M161I|ATG4A_ENST00000545696.1_Missense_Mutation_p.M108I	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	185					autophagy (GO:0006914)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						TAGAAAAAATGTGCCGTGTCC	0.463																																						dbGAP											0													131.0	130.0	130.0					X																	107381041		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ320508	CCDS14538.1, CCDS14539.1	Xq22.1-q22.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000101844	ENSG00000101844			16489	protein-coding gene	gene with protein product		300663	"""AUT-like 2, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog A (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog A (S. cerevisiae)"""	AUTL2, APG4A		12446702, 12473658	Standard	NM_052936		Approved		uc004enr.3	Q8WYN0	OTTHUMG00000022176	ENST00000372232.3:c.555G>A	X.37:g.107381041G>A	ENSP00000361306:p.Met185Ile		A6NCH2|B2RAZ7|D3DUY0|O95534|Q5JYY9|Q5JYZ0|Q86VE5|Q96KQ0|Q96KQ1	Missense_Mutation	SNP	pfam_Peptidase_C54	p.M185I	ENST00000372232.3	37	c.555	CCDS14538.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.01|14.01	2.407914|2.407914	0.42715|0.42715	.|.	.|.	ENSG00000101844|ENSG00000101844	ENST00000394892|ENST00000372232;ENST00000345734;ENST00000372254;ENST00000457035;ENST00000545696	.|T;T;T;T	.|0.42513	.|0.97;1.04;0.98;1.02	5.62|5.62	4.76|4.76	0.60689|0.60689	.|.	.|0.095434	.|0.64402	.|D	.|0.000001	T|T	0.29524|0.29524	0.0736|0.0736	N|N	0.13299|0.13299	0.325|0.325	0.34138|0.34138	D|D	0.666014|0.666014	.|B;B;B	.|0.30236	.|0.274;0.002;0.002	.|B;B;B	.|0.33960	.|0.173;0.01;0.017	T|T	0.45190|0.45190	-0.9278|-0.9278	5|10	.|0.72032	.|D	.|0.01	-11.9873|-11.9873	11.9055|11.9055	0.52708|0.52708	0.0826:0.0:0.9174:0.0|0.0826:0.0:0.9174:0.0	.|.	.|108;185;185	.|F5H3G3;Q8WYN0-2;Q8WYN0	.|.;.;ATG4A_HUMAN	Y|I	158|185;185;161;108;108	.|ENSP00000361306:M185I;ENSP00000298131:M185I;ENSP00000361328:M161I;ENSP00000438936:M108I	.|ENSP00000341833:M134I	C|M	+|+	2|3	0|0	ATG4A|ATG4A	107267697|107267697	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	6.289000|6.289000	0.72696|0.72696	1.128000|1.128000	0.42052|0.42052	0.600000|0.600000	0.82982|0.82982	TGT|ATG	ATG4A	-	pfam_Peptidase_C54	ENSG00000101844		0.463	ATG4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG4A	HGNC	protein_coding	OTTHUMT00000057860.1	307	0.00	0	G	NM_052936		107381041	107381041	+1	no_errors	ENST00000372232	ensembl	human	known	69_37n	missense	89	39.86	59	SNP	1.000	A
ATG4A	115201	genome.wustl.edu	37	X	107381041	107381041	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chrX:107381041G>A	ENST00000372232.3	+	8	714	c.555G>A	c.(553-555)atG>atA	p.M185I	ATG4A_ENST00000345734.3_Missense_Mutation_p.M185I|ATG4A_ENST00000372254.3_Missense_Mutation_p.M161I|ATG4A_ENST00000545696.1_Missense_Mutation_p.M108I	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	185					autophagy (GO:0006914)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						TAGAAAAAATGTGCCGTGTCC	0.463																																						dbGAP											0													131.0	130.0	130.0					X																	107381041		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ320508	CCDS14538.1, CCDS14539.1	Xq22.1-q22.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000101844	ENSG00000101844			16489	protein-coding gene	gene with protein product		300663	"""AUT-like 2, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog A (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog A (S. cerevisiae)"""	AUTL2, APG4A		12446702, 12473658	Standard	NM_052936		Approved		uc004enr.3	Q8WYN0	OTTHUMG00000022176	ENST00000372232.3:c.555G>A	X.37:g.107381041G>A	ENSP00000361306:p.Met185Ile		A6NCH2|B2RAZ7|D3DUY0|O95534|Q5JYY9|Q5JYZ0|Q86VE5|Q96KQ0|Q96KQ1	Missense_Mutation	SNP	pfam_Peptidase_C54	p.M185I	ENST00000372232.3	37	c.555	CCDS14538.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.01|14.01	2.407914|2.407914	0.42715|0.42715	.|.	.|.	ENSG00000101844|ENSG00000101844	ENST00000394892|ENST00000372232;ENST00000345734;ENST00000372254;ENST00000457035;ENST00000545696	.|T;T;T;T	.|0.42513	.|0.97;1.04;0.98;1.02	5.62|5.62	4.76|4.76	0.60689|0.60689	.|.	.|0.095434	.|0.64402	.|D	.|0.000001	T|T	0.29524|0.29524	0.0736|0.0736	N|N	0.13299|0.13299	0.325|0.325	0.34138|0.34138	D|D	0.666014|0.666014	.|B;B;B	.|0.30236	.|0.274;0.002;0.002	.|B;B;B	.|0.33960	.|0.173;0.01;0.017	T|T	0.45190|0.45190	-0.9278|-0.9278	5|10	.|0.72032	.|D	.|0.01	-11.9873|-11.9873	11.9055|11.9055	0.52708|0.52708	0.0826:0.0:0.9174:0.0|0.0826:0.0:0.9174:0.0	.|.	.|108;185;185	.|F5H3G3;Q8WYN0-2;Q8WYN0	.|.;.;ATG4A_HUMAN	Y|I	158|185;185;161;108;108	.|ENSP00000361306:M185I;ENSP00000298131:M185I;ENSP00000361328:M161I;ENSP00000438936:M108I	.|ENSP00000341833:M134I	C|M	+|+	2|3	0|0	ATG4A|ATG4A	107267697|107267697	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	6.289000|6.289000	0.72696|0.72696	1.128000|1.128000	0.42052|0.42052	0.600000|0.600000	0.82982|0.82982	TGT|ATG	ATG4A	-	pfam_Peptidase_C54	ENSG00000101844		0.463	ATG4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG4A	HGNC	protein_coding	OTTHUMT00000057860.1	163	0.00	0	G	NM_052936		107381041	107381041	+1	no_errors	ENST00000372232	ensembl	human	known	69_37n	missense	89	39.86	59	SNP	1.000	A
ATP2C1	27032	genome.wustl.edu	37	3	130714935	130714935	+	Silent	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr3:130714935C>T	ENST00000510168.1	+	23	2656	c.2106C>T	c.(2104-2106)ttC>ttT	p.F702F	ATP2C1_ENST00000504948.1_Silent_p.F686F|ATP2C1_ENST00000422190.2_Silent_p.F702F|ATP2C1_ENST00000359644.3_Silent_p.F702F|ATP2C1_ENST00000533801.2_Silent_p.F697F|ATP2C1_ENST00000428331.2_Silent_p.F702F|ATP2C1_ENST00000507488.2_Silent_p.F686F|ATP2C1_ENST00000513801.1_Silent_p.F686F|ATP2C1_ENST00000508532.1_Silent_p.F702F|ATP2C1_ENST00000504381.1_Silent_p.F647F|ATP2C1_ENST00000505330.1_Silent_p.F686F|ATP2C1_ENST00000393221.4_Silent_p.F736F|ATP2C1_ENST00000328560.8_Silent_p.F702F			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	702					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTAAAAATTTCGTTAGATTCC	0.308									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	dbGAP											0													87.0	101.0	96.0					3																	130714935		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.2106C>T	3.37:g.130714935C>T			B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_ion-transptr	p.S220L	ENST00000510168.1	37	c.659	CCDS46914.1	3	.	.	.	.	.	.	.	.	.	.	C	9.339	1.062624	0.19987	.	.	ENSG00000017260	ENST00000504612;ENST00000508660	.	.	.	5.75	0.634	0.17718	.	.	.	.	.	T	0.57961	0.2089	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53795	-0.8388	4	.	.	.	.	9.9295	0.41514	0.0:0.3282:0.0:0.6718	.	.	.	.	L	656;220	.	.	S	+	2	0	ATP2C1	132197625	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.187000	0.42602	0.453000	0.26858	-0.658000	0.03865	TCG	ATP2C1	-	tigrfam_ATPase_P-typ_ion-transptr	ENSG00000017260		0.308	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATP2C1	HGNC	protein_coding	OTTHUMT00000356648.2	226	0.00	0	C	NM_001001486		130714935	130714935	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000508660	ensembl	human	putative	69_37n	missense	104	33.12	52	SNP	1.000	T
ATP2C1	27032	genome.wustl.edu	37	3	130714935	130714935	+	Silent	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr3:130714935C>T	ENST00000510168.1	+	23	2656	c.2106C>T	c.(2104-2106)ttC>ttT	p.F702F	ATP2C1_ENST00000504948.1_Silent_p.F686F|ATP2C1_ENST00000422190.2_Silent_p.F702F|ATP2C1_ENST00000359644.3_Silent_p.F702F|ATP2C1_ENST00000533801.2_Silent_p.F697F|ATP2C1_ENST00000428331.2_Silent_p.F702F|ATP2C1_ENST00000507488.2_Silent_p.F686F|ATP2C1_ENST00000513801.1_Silent_p.F686F|ATP2C1_ENST00000508532.1_Silent_p.F702F|ATP2C1_ENST00000504381.1_Silent_p.F647F|ATP2C1_ENST00000505330.1_Silent_p.F686F|ATP2C1_ENST00000393221.4_Silent_p.F736F|ATP2C1_ENST00000328560.8_Silent_p.F702F			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	702					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTAAAAATTTCGTTAGATTCC	0.308									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	dbGAP											0													87.0	101.0	96.0					3																	130714935		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.2106C>T	3.37:g.130714935C>T			B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_ion-transptr	p.S220L	ENST00000510168.1	37	c.659	CCDS46914.1	3	.	.	.	.	.	.	.	.	.	.	C	9.339	1.062624	0.19987	.	.	ENSG00000017260	ENST00000504612;ENST00000508660	.	.	.	5.75	0.634	0.17718	.	.	.	.	.	T	0.57961	0.2089	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53795	-0.8388	4	.	.	.	.	9.9295	0.41514	0.0:0.3282:0.0:0.6718	.	.	.	.	L	656;220	.	.	S	+	2	0	ATP2C1	132197625	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.187000	0.42602	0.453000	0.26858	-0.658000	0.03865	TCG	ATP2C1	-	tigrfam_ATPase_P-typ_ion-transptr	ENSG00000017260		0.308	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATP2C1	HGNC	protein_coding	OTTHUMT00000356648.2	65	0.00	0	C	NM_001001486		130714935	130714935	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000508660	ensembl	human	putative	69_37n	missense	104	33.12	52	SNP	1.000	T
ATP13A4	84239	genome.wustl.edu	37	3	193132430	193132430	+	Silent	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr3:193132430G>A	ENST00000342695.4	-	26	3274	c.2952C>T	c.(2950-2952)gcC>gcT	p.A984A	ATP13A4_ENST00000392443.3_Silent_p.A965A|ATP13A4_ENST00000400270.2_5'UTR|ATP13A4_ENST00000482964.1_5'Flank	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	984						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CAATATGCATGGCCAGGCTGA	0.498																																						dbGAP											0													77.0	68.0	71.0					3																	193132430		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.2952C>T	3.37:g.193132430G>A			B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.A984	ENST00000342695.4	37	c.2952	CCDS3304.2	3																																																																																			ATP13A4	-	tigrfam_ATPase_P-typ_unknown-pump-sp	ENSG00000127249		0.498	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A4	HGNC	protein_coding	OTTHUMT00000157244.4	78	0.00	0	G	NM_032279		193132430	193132430	-1	no_errors	ENST00000342695	ensembl	human	known	69_37n	silent	65	10.96	8	SNP	0.836	A
ATP13A4	84239	genome.wustl.edu	37	3	193132430	193132430	+	Silent	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr3:193132430G>A	ENST00000342695.4	-	26	3274	c.2952C>T	c.(2950-2952)gcC>gcT	p.A984A	ATP13A4_ENST00000392443.3_Silent_p.A965A|ATP13A4_ENST00000400270.2_5'UTR|ATP13A4_ENST00000482964.1_5'Flank	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	984						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CAATATGCATGGCCAGGCTGA	0.498																																						dbGAP											0													77.0	68.0	71.0					3																	193132430		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.2952C>T	3.37:g.193132430G>A			B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.A984	ENST00000342695.4	37	c.2952	CCDS3304.2	3																																																																																			ATP13A4	-	tigrfam_ATPase_P-typ_unknown-pump-sp	ENSG00000127249		0.498	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A4	HGNC	protein_coding	OTTHUMT00000157244.4	98	0.00	0	G	NM_032279		193132430	193132430	-1	no_errors	ENST00000342695	ensembl	human	known	69_37n	silent	65	10.96	8	SNP	0.836	A
BRWD3	254065	genome.wustl.edu	37	X	79980464	79980464	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chrX:79980464G>A	ENST00000373275.4	-	15	1705	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	497					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TTGGTCCCCCGGTCAAGGTCC	0.373																																						dbGAP											0													99.0	87.0	91.0					X																	79980464		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.1489C>T	X.37:g.79980464G>A	ENSP00000362372:p.Arg497Trp		C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.R497W	ENST00000373275.4	37	c.1489	CCDS14447.1	X	.	.	.	.	.	.	.	.	.	.	G	18.73	3.686061	0.68157	.	.	ENSG00000165288	ENST00000373275	T	0.19250	2.16	5.25	4.36	0.52297	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.207707	0.39687	N	0.001299	T	0.33000	0.0848	L	0.46670	1.46	0.34371	D	0.69206	D	0.69078	0.997	P	0.60949	0.881	T	0.44421	-0.9329	9	.	.	.	-4.8768	11.3706	0.49697	0.0:0.0:0.4361:0.5639	.	497	Q6RI45	BRWD3_HUMAN	W	497	ENSP00000362372:R497W	.	R	-	1	2	BRWD3	79867120	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	4.316000	0.59178	1.136000	0.42199	0.600000	0.82982	CGG	BRWD3	-	superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000165288		0.373	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	90	0.00	0	G	NM_153252		79980464	79980464	-1	no_errors	ENST00000373275	ensembl	human	known	69_37n	missense	53	37.65	32	SNP	0.985	A
BRWD3	254065	genome.wustl.edu	37	X	79980464	79980464	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chrX:79980464G>A	ENST00000373275.4	-	15	1705	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	497					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TTGGTCCCCCGGTCAAGGTCC	0.373																																						dbGAP											0													99.0	87.0	91.0					X																	79980464		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.1489C>T	X.37:g.79980464G>A	ENSP00000362372:p.Arg497Trp		C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.R497W	ENST00000373275.4	37	c.1489	CCDS14447.1	X	.	.	.	.	.	.	.	.	.	.	G	18.73	3.686061	0.68157	.	.	ENSG00000165288	ENST00000373275	T	0.19250	2.16	5.25	4.36	0.52297	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.207707	0.39687	N	0.001299	T	0.33000	0.0848	L	0.46670	1.46	0.34371	D	0.69206	D	0.69078	0.997	P	0.60949	0.881	T	0.44421	-0.9329	9	.	.	.	-4.8768	11.3706	0.49697	0.0:0.0:0.4361:0.5639	.	497	Q6RI45	BRWD3_HUMAN	W	497	ENSP00000362372:R497W	.	R	-	1	2	BRWD3	79867120	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	4.316000	0.59178	1.136000	0.42199	0.600000	0.82982	CGG	BRWD3	-	superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000165288		0.373	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	72	0.00	0	G	NM_153252		79980464	79980464	-1	no_errors	ENST00000373275	ensembl	human	known	69_37n	missense	53	37.65	32	SNP	0.985	A
C10orf120	399814	genome.wustl.edu	37	10	124457516	124457516	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr10:124457516delG	ENST00000329446.4	-	3	772	c.741delC	c.(739-741)ttcfs	p.F247fs		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	247										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				CTTTTGACTTGAAAACTACAT	0.388																																						dbGAP											0													115.0	109.0	111.0					10																	124457516		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559			25707	protein-coding gene	gene with protein product							Standard	NM_001010912		Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.741delC	10.37:g.124457516delG	ENSP00000331012:p.Phe247fs		B2RU17	Frame_Shift_Del	DEL	NULL	p.F247fs	ENST00000329446.4	37	c.741	CCDS31302.1	10																																																																																			C10orf120	-	NULL	ENSG00000183559		0.388	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf120	HGNC	protein_coding	OTTHUMT00000050803.1	187	0.00	0	G	NM_001010912		124457516	124457516	-1	no_errors	ENST00000329446	ensembl	human	known	69_37n	frame_shift_del	119	17.24	25	DEL	1.000	-
C10orf120	399814	genome.wustl.edu	37	10	124457516	124457516	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr10:124457516delG	ENST00000329446.4	-	3	772	c.741delC	c.(739-741)ttcfs	p.F247fs		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	247										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				CTTTTGACTTGAAAACTACAT	0.388																																						dbGAP											0													115.0	109.0	111.0					10																	124457516		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559			25707	protein-coding gene	gene with protein product							Standard	NM_001010912		Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.741delC	10.37:g.124457516delG	ENSP00000331012:p.Phe247fs		B2RU17	Frame_Shift_Del	DEL	NULL	p.F247fs	ENST00000329446.4	37	c.741	CCDS31302.1	10																																																																																			C10orf120	-	NULL	ENSG00000183559		0.388	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf120	HGNC	protein_coding	OTTHUMT00000050803.1	154	0.00	0	G	NM_001010912		124457516	124457516	-1	no_errors	ENST00000329446	ensembl	human	known	69_37n	frame_shift_del	119	17.24	25	DEL	1.000	-
C10orf120	399814	genome.wustl.edu	37	10	124457606	124457606	+	Silent	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr10:124457606G>A	ENST00000329446.4	-	3	682	c.651C>T	c.(649-651)acC>acT	p.T217T		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	217										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				CACAATTATGGGTGTCATAGT	0.413																																						dbGAP											0													116.0	96.0	103.0					10																	124457606		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559			25707	protein-coding gene	gene with protein product							Standard	NM_001010912		Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.651C>T	10.37:g.124457606G>A			B2RU17	Silent	SNP	NULL	p.T217	ENST00000329446.4	37	c.651	CCDS31302.1	10																																																																																			C10orf120	-	NULL	ENSG00000183559		0.413	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf120	HGNC	protein_coding	OTTHUMT00000050803.1	156	0.00	0	G	NM_001010912		124457606	124457606	-1	no_errors	ENST00000329446	ensembl	human	known	69_37n	silent	87	30.40	38	SNP	0.000	A
C10orf120	399814	genome.wustl.edu	37	10	124457606	124457606	+	Silent	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr10:124457606G>A	ENST00000329446.4	-	3	682	c.651C>T	c.(649-651)acC>acT	p.T217T		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	217										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				CACAATTATGGGTGTCATAGT	0.413																																						dbGAP											0													116.0	96.0	103.0					10																	124457606		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559			25707	protein-coding gene	gene with protein product							Standard	NM_001010912		Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.651C>T	10.37:g.124457606G>A			B2RU17	Silent	SNP	NULL	p.T217	ENST00000329446.4	37	c.651	CCDS31302.1	10																																																																																			C10orf120	-	NULL	ENSG00000183559		0.413	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf120	HGNC	protein_coding	OTTHUMT00000050803.1	137	0.00	0	G	NM_001010912		124457606	124457606	-1	no_errors	ENST00000329446	ensembl	human	known	69_37n	silent	87	30.40	38	SNP	0.000	A
C17orf53	78995	genome.wustl.edu	37	17	42230004	42230004	+	Splice_Site	SNP	G	G	C			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr17:42230004G>C	ENST00000319977.4	+	5	1545		c.e5-1		C17orf53_ENST00000245382.6_Intron|C17orf53_ENST00000585683.1_Splice_Site	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53											NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TGTGGTACCAGATTGTTGCTA	0.532																																						dbGAP											0													91.0	83.0	86.0					17																	42230004		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.1309-1G>C	17.37:g.42230004G>C			A8K7A9|Q9BWM9|Q9HAI1	Splice_Site	SNP	-	e5-1	ENST00000319977.4	37	c.1309-1	CCDS11477.1	17	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778640	0.90195	.	.	ENSG00000125319	ENST00000319977	.	.	.	5.76	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9414	0.64057	0.0:0.1523:0.8477:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C17orf53	39585530	1.000000	0.71417	0.079000	0.20413	0.973000	0.67179	5.745000	0.68672	1.426000	0.47256	0.555000	0.69702	.	C17orf53	-	-	ENSG00000125319		0.532	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C17orf53	HGNC	protein_coding	OTTHUMT00000457697.1	78	0.00	0	G	NM_024032	Intron	42230004	42230004	+1	no_errors	ENST00000319977	ensembl	human	known	69_37n	splice_site	47	33.80	24	SNP	0.875	C
C17orf53	78995	genome.wustl.edu	37	17	42230004	42230004	+	Splice_Site	SNP	G	G	C			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr17:42230004G>C	ENST00000319977.4	+	5	1545		c.e5-1		C17orf53_ENST00000245382.6_Intron|C17orf53_ENST00000585683.1_Splice_Site	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53											NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TGTGGTACCAGATTGTTGCTA	0.532																																						dbGAP											0													91.0	83.0	86.0					17																	42230004		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.1309-1G>C	17.37:g.42230004G>C			A8K7A9|Q9BWM9|Q9HAI1	Splice_Site	SNP	-	e5-1	ENST00000319977.4	37	c.1309-1	CCDS11477.1	17	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778640	0.90195	.	.	ENSG00000125319	ENST00000319977	.	.	.	5.76	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9414	0.64057	0.0:0.1523:0.8477:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C17orf53	39585530	1.000000	0.71417	0.079000	0.20413	0.973000	0.67179	5.745000	0.68672	1.426000	0.47256	0.555000	0.69702	.	C17orf53	-	-	ENSG00000125319		0.532	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C17orf53	HGNC	protein_coding	OTTHUMT00000457697.1	119	0.00	0	G	NM_024032	Intron	42230004	42230004	+1	no_errors	ENST00000319977	ensembl	human	known	69_37n	splice_site	47	33.80	24	SNP	0.875	C
CACNA1G	8913	genome.wustl.edu	37	17	48650015	48650015	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr17:48650015delA	ENST00000359106.5	+	6	847	c.847delA	c.(847-849)agafs	p.R283fs	CACNA1G_ENST00000515765.1_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000510115.1_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000429973.2_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000360761.4_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000515165.1_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000352832.5_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000358244.5_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000514181.1_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000507510.2_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000507896.1_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000416767.4_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000510366.1_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000515411.1_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000514717.1_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000354983.4_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000505165.1_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000514079.1_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000512389.1_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000442258.2_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000513964.1_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000507609.1_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000503485.1_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000513689.2_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000507336.1_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000502264.1_Frame_Shift_Del_p.R283fs	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	283					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCGGTCCTGCAGAAGCGTGCC	0.642																																						dbGAP											0													21.0	23.0	22.0					17																	48650015		2088	4203	6291	-	-	-	SO:0001589	frameshift_variant	0			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.847delA	17.37:g.48650015delA	ENSP00000352011:p.Arg283fs		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Frame_Shift_Del	DEL	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.R283fs	ENST00000359106.5	37	c.847	CCDS45730.1	17																																																																																			CACNA1G	-	pfam_Ion_trans_dom	ENSG00000006283		0.642	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	HGNC	protein_coding	OTTHUMT00000367895.1	21	0.00	0	A	NM_018896		48650015	48650015	+1	no_errors	ENST00000359106	ensembl	human	known	69_37n	frame_shift_del	12	53.85	14	DEL	0.981	-
CACNA1G	8913	genome.wustl.edu	37	17	48650015	48650015	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr17:48650015delA	ENST00000359106.5	+	6	847	c.847delA	c.(847-849)agafs	p.R283fs	CACNA1G_ENST00000515765.1_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000510115.1_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000429973.2_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000360761.4_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000515165.1_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000352832.5_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000358244.5_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000514181.1_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000507510.2_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000507896.1_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000416767.4_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000510366.1_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000515411.1_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000514717.1_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000354983.4_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000505165.1_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000514079.1_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000512389.1_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000442258.2_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000513964.1_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000507609.1_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000503485.1_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000513689.2_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000507336.1_Frame_Shift_Del_p.R283fs|CACNA1G_ENST00000502264.1_Frame_Shift_Del_p.R283fs	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	283					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCGGTCCTGCAGAAGCGTGCC	0.642																																						dbGAP											0													21.0	23.0	22.0					17																	48650015		2088	4203	6291	-	-	-	SO:0001589	frameshift_variant	0			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.847delA	17.37:g.48650015delA	ENSP00000352011:p.Arg283fs		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Frame_Shift_Del	DEL	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.R283fs	ENST00000359106.5	37	c.847	CCDS45730.1	17																																																																																			CACNA1G	-	pfam_Ion_trans_dom	ENSG00000006283		0.642	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	HGNC	protein_coding	OTTHUMT00000367895.1	29	0.00	0	A	NM_018896		48650015	48650015	+1	no_errors	ENST00000359106	ensembl	human	known	69_37n	frame_shift_del	12	53.85	14	DEL	0.981	-
CAMTA1	23261	genome.wustl.edu	37	1	7723467	7723467	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr1:7723467C>G	ENST00000303635.7	+	9	1067	c.860C>G	c.(859-861)tCg>tGg	p.S287W	CAMTA1_ENST00000439411.2_Missense_Mutation_p.S287W	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	287					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S287L(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CGCATCATCTCGCCCAAGGTG	0.637			T	WWTR1	epitheliod hemangioendothelioma																																	dbGAP		Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	1	Substitution - Missense(1)	central_nervous_system(1)											116.0	117.0	117.0					1																	7723467		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.860C>G	1.37:g.7723467C>G	ENSP00000306522:p.Ser287Trp		A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.S287W	ENST00000303635.7	37	c.860	CCDS30576.1	1	.	.	.	.	.	.	.	.	.	.	c	17.95	3.514058	0.64522	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.38722	1.12;1.12	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.63616	0.2526	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.67799	-0.5577	10	0.87932	D	0	-7.0203	18.0692	0.89400	0.0:1.0:0.0:0.0	.	287	Q9Y6Y1	CMTA1_HUMAN	W	287	ENSP00000306522:S287W;ENSP00000402561:S287W	ENSP00000306522:S287W	S	+	2	0	CAMTA1	7646054	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.735000	0.84939	2.271000	0.75665	0.549000	0.68633	TCG	CAMTA1	-	NULL	ENSG00000171735		0.637	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	HGNC	protein_coding	OTTHUMT00000003588.3	60	0.00	0	C	NM_015215		7723467	7723467	+1	no_errors	ENST00000303635	ensembl	human	known	69_37n	missense	7	46.15	6	SNP	1.000	G
CAMTA1	23261	genome.wustl.edu	37	1	7723467	7723467	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr1:7723467C>G	ENST00000303635.7	+	9	1067	c.860C>G	c.(859-861)tCg>tGg	p.S287W	CAMTA1_ENST00000439411.2_Missense_Mutation_p.S287W	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	287					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S287L(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CGCATCATCTCGCCCAAGGTG	0.637			T	WWTR1	epitheliod hemangioendothelioma																																	dbGAP		Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	1	Substitution - Missense(1)	central_nervous_system(1)											116.0	117.0	117.0					1																	7723467		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.860C>G	1.37:g.7723467C>G	ENSP00000306522:p.Ser287Trp		A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.S287W	ENST00000303635.7	37	c.860	CCDS30576.1	1	.	.	.	.	.	.	.	.	.	.	c	17.95	3.514058	0.64522	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.38722	1.12;1.12	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.63616	0.2526	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.67799	-0.5577	10	0.87932	D	0	-7.0203	18.0692	0.89400	0.0:1.0:0.0:0.0	.	287	Q9Y6Y1	CMTA1_HUMAN	W	287	ENSP00000306522:S287W;ENSP00000402561:S287W	ENSP00000306522:S287W	S	+	2	0	CAMTA1	7646054	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.735000	0.84939	2.271000	0.75665	0.549000	0.68633	TCG	CAMTA1	-	NULL	ENSG00000171735		0.637	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	HGNC	protein_coding	OTTHUMT00000003588.3	24	0.00	0	C	NM_015215		7723467	7723467	+1	no_errors	ENST00000303635	ensembl	human	known	69_37n	missense	7	46.15	6	SNP	1.000	G
CASC4	113201	genome.wustl.edu	37	15	44581304	44581304	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr15:44581304T>C	ENST00000345795.2	+	1	347	c.77T>C	c.(76-78)gTc>gCc	p.V26A	CASC4_ENST00000299957.6_Missense_Mutation_p.V26A|CASC4_ENST00000360824.3_Missense_Mutation_p.V26A|CASC4_ENST00000429162.2_3'UTR	NM_177974.2	NP_816929.1	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	26						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		GTGGTGATCGTCGTCCTCGCC	0.672																																						dbGAP											0													58.0	54.0	56.0					15																	44581304		2198	4298	6496	-	-	-	SO:0001583	missense	0			AF103804	CCDS10108.1, CCDS10109.1	15q15.1	2010-11-24			ENSG00000166734	ENSG00000166734			24892	protein-coding gene	gene with protein product						10497265	Standard	NM_138423		Approved	H63, DKFZp459F1927	uc001ztp.3	Q6P4E1	OTTHUMG00000131133	ENST00000345795.2:c.77T>C	15.37:g.44581304T>C	ENSP00000335063:p.Val26Ala		B4DPZ6|G5E934|Q6UY45|Q96EM1	Missense_Mutation	SNP	NULL	p.V26A	ENST00000345795.2	37	c.77	CCDS10109.1	15	.	.	.	.	.	.	.	.	.	.	T	15.07	2.724388	0.48728	.	.	ENSG00000166734	ENST00000299957;ENST00000429162;ENST00000345795;ENST00000360824;ENST00000416522	.	.	.	5.72	2.24	0.28232	.	0.177804	0.49305	N	0.000146	T	0.24774	0.0601	N	0.08118	0	0.38074	D	0.936472	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.001;0.0;0.002	T	0.04386	-1.0955	9	0.22706	T	0.39	-5.1061	3.7163	0.08439	0.0:0.3217:0.1968:0.4815	.	26;26;26	Q6P4E1-2;G5E934;Q6P4E1	.;.;CASC4_HUMAN	A	26;26;26;26;5	.	ENSP00000299957:V26A	V	+	2	0	CASC4	42368596	0.678000	0.27586	0.979000	0.43373	0.957000	0.61999	0.531000	0.23052	0.424000	0.26061	0.459000	0.35465	GTC	CASC4	-	NULL	ENSG00000166734		0.672	CASC4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CASC4	HGNC	protein_coding	OTTHUMT00000253816.1	15	0.00	0	T	NM_138423		44581304	44581304	+1	no_errors	ENST00000299957	ensembl	human	known	69_37n	missense	22	37.84	14	SNP	0.988	C
CCDC62	84660	genome.wustl.edu	37	12	123285673	123285673	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr12:123285673G>C	ENST00000253079.6	+	9	1324	c.980G>C	c.(979-981)aGa>aCa	p.R327T	CCDC62_ENST00000537566.1_Missense_Mutation_p.R88T|CCDC62_ENST00000392440.2_Missense_Mutation_p.R88T|CCDC62_ENST00000392441.4_Missense_Mutation_p.R327T	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	327					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		CACCATAGCAGAGACATGTGT	0.353																																						dbGAP											0													56.0	60.0	59.0					12																	123285673		2200	4300	6500	-	-	-	SO:0001583	missense	0				CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"""cancer/testis antigen 109"""	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.980G>C	12.37:g.123285673G>C	ENSP00000253079:p.Arg327Thr		A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Missense_Mutation	SNP	superfamily_Prefoldin	p.R327T	ENST00000253079.6	37	c.980	CCDS9238.1	12	.	.	.	.	.	.	.	.	.	.	G	18.80	3.700706	0.68501	.	.	ENSG00000130783	ENST00000253079;ENST00000392441;ENST00000537566;ENST00000392440	T;T;T;T	0.55413	1.16;1.15;0.52;0.52	5.41	3.54	0.40534	.	0.124732	0.36740	N	0.002425	T	0.52725	0.1752	L	0.56769	1.78	0.26011	N	0.981998	P;P;P	0.51933	0.763;0.949;0.728	P;P;P	0.49192	0.463;0.602;0.447	T	0.49679	-0.8914	10	0.59425	D	0.04	-11.5228	7.7967	0.29152	0.1884:0.0:0.8116:0.0	.	327;88;327	Q6P9F0-2;Q6P9F0-3;Q6P9F0	.;.;CCD62_HUMAN	T	327;327;88;88	ENSP00000253079:R327T;ENSP00000376236:R327T;ENSP00000445045:R88T;ENSP00000376235:R88T	ENSP00000253079:R327T	R	+	2	0	CCDC62	121851626	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.163000	0.31798	1.259000	0.44117	0.655000	0.94253	AGA	CCDC62	-	NULL	ENSG00000130783		0.353	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC62	HGNC	protein_coding	OTTHUMT00000400930.1	116	0.85	1	G	NM_032573		123285673	123285673	+1	no_errors	ENST00000253079	ensembl	human	known	69_37n	missense	62	30.34	27	SNP	1.000	C
CCDC62	84660	genome.wustl.edu	37	12	123285673	123285673	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr12:123285673G>C	ENST00000253079.6	+	9	1324	c.980G>C	c.(979-981)aGa>aCa	p.R327T	CCDC62_ENST00000537566.1_Missense_Mutation_p.R88T|CCDC62_ENST00000392440.2_Missense_Mutation_p.R88T|CCDC62_ENST00000392441.4_Missense_Mutation_p.R327T	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	327					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		CACCATAGCAGAGACATGTGT	0.353																																						dbGAP											0													56.0	60.0	59.0					12																	123285673		2200	4300	6500	-	-	-	SO:0001583	missense	0				CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"""cancer/testis antigen 109"""	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.980G>C	12.37:g.123285673G>C	ENSP00000253079:p.Arg327Thr		A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Missense_Mutation	SNP	superfamily_Prefoldin	p.R327T	ENST00000253079.6	37	c.980	CCDS9238.1	12	.	.	.	.	.	.	.	.	.	.	G	18.80	3.700706	0.68501	.	.	ENSG00000130783	ENST00000253079;ENST00000392441;ENST00000537566;ENST00000392440	T;T;T;T	0.55413	1.16;1.15;0.52;0.52	5.41	3.54	0.40534	.	0.124732	0.36740	N	0.002425	T	0.52725	0.1752	L	0.56769	1.78	0.26011	N	0.981998	P;P;P	0.51933	0.763;0.949;0.728	P;P;P	0.49192	0.463;0.602;0.447	T	0.49679	-0.8914	10	0.59425	D	0.04	-11.5228	7.7967	0.29152	0.1884:0.0:0.8116:0.0	.	327;88;327	Q6P9F0-2;Q6P9F0-3;Q6P9F0	.;.;CCD62_HUMAN	T	327;327;88;88	ENSP00000253079:R327T;ENSP00000376236:R327T;ENSP00000445045:R88T;ENSP00000376235:R88T	ENSP00000253079:R327T	R	+	2	0	CCDC62	121851626	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.163000	0.31798	1.259000	0.44117	0.655000	0.94253	AGA	CCDC62	-	NULL	ENSG00000130783		0.353	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC62	HGNC	protein_coding	OTTHUMT00000400930.1	78	0.00	0	G	NM_032573		123285673	123285673	+1	no_errors	ENST00000253079	ensembl	human	known	69_37n	missense	62	30.34	27	SNP	1.000	C
CCDC63	160762	genome.wustl.edu	37	12	111319049	111319049	+	Missense_Mutation	SNP	G	G	A	rs536653873		TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr12:111319049G>A	ENST00000308208.5	+	7	1044	c.802G>A	c.(802-804)Gtc>Atc	p.V268I	CCDC63_ENST00000545036.1_Missense_Mutation_p.V228I|CCDC63_ENST00000552694.1_Missense_Mutation_p.V189I|CCDC63_ENST00000550317.1_3'UTR	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	268										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CTTCCTGCTCGTCAAGCTGAA	0.532													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21172	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													79.0	67.0	71.0					12																	111319049		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.802G>A	12.37:g.111319049G>A	ENSP00000312399:p.Val268Ile		B4DY03|Q0P603|Q6P2E1	Missense_Mutation	SNP	NULL	p.V268I	ENST00000308208.5	37	c.802	CCDS9151.1	12	.	.	.	.	.	.	.	.	.	.	G	0.072	-1.200948	0.01581	.	.	ENSG00000173093	ENST00000545036;ENST00000308208;ENST00000552694	T;T;T	0.21932	1.98;1.98;1.98	4.65	-8.41	0.00961	.	1.716060	0.03184	N	0.172453	T	0.09379	0.0231	N	0.12569	0.235	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.18903	-1.0322	10	0.22706	T	0.39	.	6.7001	0.23221	0.1689:0.0:0.4731:0.358	.	268	Q8NA47	CCD63_HUMAN	I	228;268;189	ENSP00000445881:V228I;ENSP00000312399:V268I;ENSP00000450217:V189I	ENSP00000312399:V268I	V	+	1	0	CCDC63	109803432	0.000000	0.05858	0.312000	0.25196	0.155000	0.21991	-1.354000	0.02614	-1.562000	0.01682	-1.365000	0.01206	GTC	CCDC63	-	NULL	ENSG00000173093		0.532	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC63	HGNC	protein_coding	OTTHUMT00000404673.2	56	0.00	0	G	NM_152591		111319049	111319049	+1	no_errors	ENST00000308208	ensembl	human	known	69_37n	missense	30	38.78	19	SNP	0.201	A
CCDC63	160762	genome.wustl.edu	37	12	111319049	111319049	+	Missense_Mutation	SNP	G	G	A	rs536653873		TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr12:111319049G>A	ENST00000308208.5	+	7	1044	c.802G>A	c.(802-804)Gtc>Atc	p.V268I	CCDC63_ENST00000545036.1_Missense_Mutation_p.V228I|CCDC63_ENST00000552694.1_Missense_Mutation_p.V189I|CCDC63_ENST00000550317.1_3'UTR	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	268										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CTTCCTGCTCGTCAAGCTGAA	0.532													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21172	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													79.0	67.0	71.0					12																	111319049		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.802G>A	12.37:g.111319049G>A	ENSP00000312399:p.Val268Ile		B4DY03|Q0P603|Q6P2E1	Missense_Mutation	SNP	NULL	p.V268I	ENST00000308208.5	37	c.802	CCDS9151.1	12	.	.	.	.	.	.	.	.	.	.	G	0.072	-1.200948	0.01581	.	.	ENSG00000173093	ENST00000545036;ENST00000308208;ENST00000552694	T;T;T	0.21932	1.98;1.98;1.98	4.65	-8.41	0.00961	.	1.716060	0.03184	N	0.172453	T	0.09379	0.0231	N	0.12569	0.235	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.18903	-1.0322	10	0.22706	T	0.39	.	6.7001	0.23221	0.1689:0.0:0.4731:0.358	.	268	Q8NA47	CCD63_HUMAN	I	228;268;189	ENSP00000445881:V228I;ENSP00000312399:V268I;ENSP00000450217:V189I	ENSP00000312399:V268I	V	+	1	0	CCDC63	109803432	0.000000	0.05858	0.312000	0.25196	0.155000	0.21991	-1.354000	0.02614	-1.562000	0.01682	-1.365000	0.01206	GTC	CCDC63	-	NULL	ENSG00000173093		0.532	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC63	HGNC	protein_coding	OTTHUMT00000404673.2	38	0.00	0	G	NM_152591		111319049	111319049	+1	no_errors	ENST00000308208	ensembl	human	known	69_37n	missense	30	38.78	19	SNP	0.201	A
CCDC62	84660	genome.wustl.edu	37	12	123285827	123285827	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr12:123285827G>C	ENST00000253079.6	+	9	1478	c.1134G>C	c.(1132-1134)gaG>gaC	p.E378D	CCDC62_ENST00000537566.1_Missense_Mutation_p.E139D|CCDC62_ENST00000392440.2_Missense_Mutation_p.E139D|CCDC62_ENST00000392441.4_Missense_Mutation_p.E378D	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	378					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		AATGCAAAGAGAAGAAACAAC	0.403																																						dbGAP											0													99.0	92.0	94.0					12																	123285827		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"""cancer/testis antigen 109"""	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.1134G>C	12.37:g.123285827G>C	ENSP00000253079:p.Glu378Asp		A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Missense_Mutation	SNP	superfamily_Prefoldin	p.E378D	ENST00000253079.6	37	c.1134	CCDS9238.1	12	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085774	0.36758	.	.	ENSG00000130783	ENST00000253079;ENST00000392441;ENST00000537566;ENST00000392440	T;T;T;T	0.56776	1.08;1.07;0.44;0.44	5.62	2.33	0.28932	.	0.410556	0.20597	N	0.089230	T	0.44932	0.1317	M	0.64997	1.995	0.19575	N	0.999969	B;B;B	0.27997	0.037;0.197;0.02	B;B;B	0.28465	0.041;0.09;0.027	T	0.40813	-0.9543	10	0.49607	T	0.09	-8.9167	5.4636	0.16630	0.1895:0.0:0.6459:0.1646	.	378;139;378	Q6P9F0-2;Q6P9F0-3;Q6P9F0	.;.;CCD62_HUMAN	D	378;378;139;139	ENSP00000253079:E378D;ENSP00000376236:E378D;ENSP00000445045:E139D;ENSP00000376235:E139D	ENSP00000253079:E378D	E	+	3	2	CCDC62	121851780	1.000000	0.71417	0.391000	0.26233	0.039000	0.13416	1.745000	0.38278	0.731000	0.32448	-0.181000	0.13052	GAG	CCDC62	-	NULL	ENSG00000130783		0.403	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC62	HGNC	protein_coding	OTTHUMT00000400930.1	126	0.00	0	G	NM_032573		123285827	123285827	+1	no_errors	ENST00000253079	ensembl	human	known	69_37n	missense	68	33.98	35	SNP	0.351	C
CCDC62	84660	genome.wustl.edu	37	12	123285827	123285827	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr12:123285827G>C	ENST00000253079.6	+	9	1478	c.1134G>C	c.(1132-1134)gaG>gaC	p.E378D	CCDC62_ENST00000537566.1_Missense_Mutation_p.E139D|CCDC62_ENST00000392440.2_Missense_Mutation_p.E139D|CCDC62_ENST00000392441.4_Missense_Mutation_p.E378D	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	378					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		AATGCAAAGAGAAGAAACAAC	0.403																																						dbGAP											0													99.0	92.0	94.0					12																	123285827		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"""cancer/testis antigen 109"""	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.1134G>C	12.37:g.123285827G>C	ENSP00000253079:p.Glu378Asp		A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Missense_Mutation	SNP	superfamily_Prefoldin	p.E378D	ENST00000253079.6	37	c.1134	CCDS9238.1	12	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085774	0.36758	.	.	ENSG00000130783	ENST00000253079;ENST00000392441;ENST00000537566;ENST00000392440	T;T;T;T	0.56776	1.08;1.07;0.44;0.44	5.62	2.33	0.28932	.	0.410556	0.20597	N	0.089230	T	0.44932	0.1317	M	0.64997	1.995	0.19575	N	0.999969	B;B;B	0.27997	0.037;0.197;0.02	B;B;B	0.28465	0.041;0.09;0.027	T	0.40813	-0.9543	10	0.49607	T	0.09	-8.9167	5.4636	0.16630	0.1895:0.0:0.6459:0.1646	.	378;139;378	Q6P9F0-2;Q6P9F0-3;Q6P9F0	.;.;CCD62_HUMAN	D	378;378;139;139	ENSP00000253079:E378D;ENSP00000376236:E378D;ENSP00000445045:E139D;ENSP00000376235:E139D	ENSP00000253079:E378D	E	+	3	2	CCDC62	121851780	1.000000	0.71417	0.391000	0.26233	0.039000	0.13416	1.745000	0.38278	0.731000	0.32448	-0.181000	0.13052	GAG	CCDC62	-	NULL	ENSG00000130783		0.403	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC62	HGNC	protein_coding	OTTHUMT00000400930.1	107	0.00	0	G	NM_032573		123285827	123285827	+1	no_errors	ENST00000253079	ensembl	human	known	69_37n	missense	68	33.98	35	SNP	0.351	C
CCSAP	126731	genome.wustl.edu	37	1	229462694	229462694	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr1:229462694C>G	ENST00000366687.1	-	2	478	c.427G>C	c.(427-429)Gac>Cac	p.D143H	CCSAP_ENST00000366686.1_Missense_Mutation_p.D29H|CCSAP_ENST00000483092.1_5'UTR|CCSAP_ENST00000284617.2_Missense_Mutation_p.D143H			Q6IQ19	CCSAP_HUMAN	centriole, cilia and spindle-associated protein	143					multicellular organismal development (GO:0007275)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of embryonic development (GO:0045995)	axon (GO:0030424)|axoneme (GO:0005930)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cilium (GO:0005929)|spindle (GO:0005819)											GGTGATTTGTCAGTCTCTCTT	0.408																																						dbGAP											0													284.0	284.0	284.0					1																	229462694		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC071609	CCDS1577.1	1q42.13	2012-06-19	2012-06-19	2012-06-19	ENSG00000154429	ENSG00000154429			29578	protein-coding gene	gene with protein product	"""centriole and spindle-associated protein"""		"""chromosome 1 open reading frame 96"""	C1orf96		22493317	Standard	NM_145257		Approved	FLJ41471, CSAP	uc001htl.4	Q6IQ19	OTTHUMG00000037663	ENST00000366687.1:c.427G>C	1.37:g.229462694C>G	ENSP00000355648:p.Asp143His		A8K5X2|Q6P9G2|Q6ZW85|Q8IXU1|Q96BM2	Missense_Mutation	SNP	NULL	p.D143H	ENST00000366687.1	37	c.427	CCDS1577.1	1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771986	0.49680	.	.	ENSG00000154429	ENST00000366687;ENST00000284617;ENST00000366686	T;T;T	0.51817	0.86;0.86;0.69	5.7	1.6	0.23607	.	0.655855	0.16307	N	0.220161	T	0.55257	0.1909	M	0.64997	1.995	0.19300	N	0.999975	D	0.61080	0.989	P	0.58873	0.847	T	0.41484	-0.9506	10	0.72032	D	0.01	-5.805	6.3838	0.21550	0.0:0.6537:0.1314:0.2149	.	143	Q6IQ19	CA096_HUMAN	H	143;143;29	ENSP00000355648:D143H;ENSP00000284617:D143H;ENSP00000355647:D29H	ENSP00000284617:D143H	D	-	1	0	C1orf96	227529317	0.135000	0.22499	0.003000	0.11579	0.001000	0.01503	1.696000	0.37773	0.765000	0.33221	-0.140000	0.14226	GAC	CCSAP	-	NULL	ENSG00000154429		0.408	CCSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCSAP	HGNC	protein_coding	OTTHUMT00000091839.1	149	0.00	0	C	NM_145257		229462694	229462694	-1	no_errors	ENST00000284617	ensembl	human	known	69_37n	missense	166	17.00	34	SNP	0.005	G
CCSAP	126731	genome.wustl.edu	37	1	229462694	229462694	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr1:229462694C>G	ENST00000366687.1	-	2	478	c.427G>C	c.(427-429)Gac>Cac	p.D143H	CCSAP_ENST00000366686.1_Missense_Mutation_p.D29H|CCSAP_ENST00000483092.1_5'UTR|CCSAP_ENST00000284617.2_Missense_Mutation_p.D143H			Q6IQ19	CCSAP_HUMAN	centriole, cilia and spindle-associated protein	143					multicellular organismal development (GO:0007275)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of embryonic development (GO:0045995)	axon (GO:0030424)|axoneme (GO:0005930)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cilium (GO:0005929)|spindle (GO:0005819)											GGTGATTTGTCAGTCTCTCTT	0.408																																						dbGAP											0													284.0	284.0	284.0					1																	229462694		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC071609	CCDS1577.1	1q42.13	2012-06-19	2012-06-19	2012-06-19	ENSG00000154429	ENSG00000154429			29578	protein-coding gene	gene with protein product	"""centriole and spindle-associated protein"""		"""chromosome 1 open reading frame 96"""	C1orf96		22493317	Standard	NM_145257		Approved	FLJ41471, CSAP	uc001htl.4	Q6IQ19	OTTHUMG00000037663	ENST00000366687.1:c.427G>C	1.37:g.229462694C>G	ENSP00000355648:p.Asp143His		A8K5X2|Q6P9G2|Q6ZW85|Q8IXU1|Q96BM2	Missense_Mutation	SNP	NULL	p.D143H	ENST00000366687.1	37	c.427	CCDS1577.1	1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771986	0.49680	.	.	ENSG00000154429	ENST00000366687;ENST00000284617;ENST00000366686	T;T;T	0.51817	0.86;0.86;0.69	5.7	1.6	0.23607	.	0.655855	0.16307	N	0.220161	T	0.55257	0.1909	M	0.64997	1.995	0.19300	N	0.999975	D	0.61080	0.989	P	0.58873	0.847	T	0.41484	-0.9506	10	0.72032	D	0.01	-5.805	6.3838	0.21550	0.0:0.6537:0.1314:0.2149	.	143	Q6IQ19	CA096_HUMAN	H	143;143;29	ENSP00000355648:D143H;ENSP00000284617:D143H;ENSP00000355647:D29H	ENSP00000284617:D143H	D	-	1	0	C1orf96	227529317	0.135000	0.22499	0.003000	0.11579	0.001000	0.01503	1.696000	0.37773	0.765000	0.33221	-0.140000	0.14226	GAC	CCSAP	-	NULL	ENSG00000154429		0.408	CCSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCSAP	HGNC	protein_coding	OTTHUMT00000091839.1	188	0.00	0	C	NM_145257		229462694	229462694	-1	no_errors	ENST00000284617	ensembl	human	known	69_37n	missense	166	17.00	34	SNP	0.005	G
CDC42BPG	55561	genome.wustl.edu	37	11	64597214	64597214	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr11:64597214delC	ENST00000342711.5	-	30	3695	c.3696delG	c.(3694-3696)gggfs	p.G1232fs	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						CGCCCAGCAGCCCCAGGCTCT	0.716																																						dbGAP											0													7.0	9.0	8.0					11																	64597214		2116	4175	6291	-	-	-	SO:0001589	frameshift_variant	0			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.3696delG	11.37:g.64597214delC	ENSP00000345133:p.Gly1232fs			Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.L1233fs	ENST00000342711.5	37	c.3696	CCDS31601.1	11																																																																																			CDC42BPG	-	pfam_Citron,smart_Citron	ENSG00000171219		0.716	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPG	HGNC	protein_coding	OTTHUMT00000105352.4	8	0.00	0	C	XM_290516		64597214	64597214	-1	no_errors	ENST00000342711	ensembl	human	known	69_37n	frame_shift_del	4	42.86	3	DEL	0.211	-
CDC42BPG	55561	genome.wustl.edu	37	11	64597214	64597214	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr11:64597214delC	ENST00000342711.5	-	30	3695	c.3696delG	c.(3694-3696)gggfs	p.G1232fs	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						CGCCCAGCAGCCCCAGGCTCT	0.716																																						dbGAP											0													7.0	9.0	8.0					11																	64597214		2116	4175	6291	-	-	-	SO:0001589	frameshift_variant	0			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.3696delG	11.37:g.64597214delC	ENSP00000345133:p.Gly1232fs			Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.L1233fs	ENST00000342711.5	37	c.3696	CCDS31601.1	11																																																																																			CDC42BPG	-	pfam_Citron,smart_Citron	ENSG00000171219		0.716	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPG	HGNC	protein_coding	OTTHUMT00000105352.4	13	0.00	0	C	XM_290516		64597214	64597214	-1	no_errors	ENST00000342711	ensembl	human	known	69_37n	frame_shift_del	4	42.86	3	DEL	0.211	-
CNKSR1	10256	genome.wustl.edu	37	1	26507066	26507066	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr1:26507066C>G	ENST00000374253.5	+	2	214	c.175C>G	c.(175-177)Ctc>Gtc	p.L59V	CNKSR1_ENST00000531191.1_5'UTR|CNKSR1_ENST00000480348.2_3'UTR|CNKSR1_ENST00000361530.6_Missense_Mutation_p.L59V	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	59	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		ACACCAGGAGCTCATCCTGGG	0.642																																					NSCLC(180;1396 2109 28270 30756 34275)	dbGAP											0													51.0	56.0	55.0					1																	26507066		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.175C>G	1.37:g.26507066C>G	ENSP00000363371:p.Leu59Val		B1AMW9|O95381	Missense_Mutation	SNP	pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM	p.L59V	ENST00000374253.5	37	c.175		1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626451	0.66901	.	.	ENSG00000142675	ENST00000361530;ENST00000422547;ENST00000374253	T;T	0.49720	0.77;0.77	5.0	3.05	0.35203	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.282902	0.34531	N	0.003898	T	0.60274	0.2256	M	0.79011	2.435	0.40356	D	0.979182	D;D	0.63046	0.992;0.992	P;P	0.60236	0.871;0.8	T	0.61691	-0.7011	10	0.72032	D	0.01	-13.1789	6.354	0.21390	0.4826:0.4328:0.0:0.0845	.	59;59	Q969H4;Q53GM7	CNKR1_HUMAN;.	V	59	ENSP00000354609:L59V;ENSP00000363371:L59V	ENSP00000354609:L59V	L	+	1	0	CNKSR1	26379653	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.059000	0.41384	0.651000	0.30788	0.655000	0.94253	CTC	CNKSR1	-	pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	ENSG00000142675		0.642	CNKSR1-007	KNOWN	basic	protein_coding	CNKSR1	HGNC	protein_coding	OTTHUMT00000089943.2	102	0.00	0	C	NM_006314		26507066	26507066	+1	no_errors	ENST00000374253	ensembl	human	known	69_37n	missense	52	11.48	7	SNP	1.000	G
CNKSR1	10256	genome.wustl.edu	37	1	26507066	26507066	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr1:26507066C>G	ENST00000374253.5	+	2	214	c.175C>G	c.(175-177)Ctc>Gtc	p.L59V	CNKSR1_ENST00000531191.1_5'UTR|CNKSR1_ENST00000480348.2_3'UTR|CNKSR1_ENST00000361530.6_Missense_Mutation_p.L59V	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	59	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		ACACCAGGAGCTCATCCTGGG	0.642																																					NSCLC(180;1396 2109 28270 30756 34275)	dbGAP											0													51.0	56.0	55.0					1																	26507066		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.175C>G	1.37:g.26507066C>G	ENSP00000363371:p.Leu59Val		B1AMW9|O95381	Missense_Mutation	SNP	pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM	p.L59V	ENST00000374253.5	37	c.175		1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626451	0.66901	.	.	ENSG00000142675	ENST00000361530;ENST00000422547;ENST00000374253	T;T	0.49720	0.77;0.77	5.0	3.05	0.35203	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.282902	0.34531	N	0.003898	T	0.60274	0.2256	M	0.79011	2.435	0.40356	D	0.979182	D;D	0.63046	0.992;0.992	P;P	0.60236	0.871;0.8	T	0.61691	-0.7011	10	0.72032	D	0.01	-13.1789	6.354	0.21390	0.4826:0.4328:0.0:0.0845	.	59;59	Q969H4;Q53GM7	CNKR1_HUMAN;.	V	59	ENSP00000354609:L59V;ENSP00000363371:L59V	ENSP00000354609:L59V	L	+	1	0	CNKSR1	26379653	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.059000	0.41384	0.651000	0.30788	0.655000	0.94253	CTC	CNKSR1	-	pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	ENSG00000142675		0.642	CNKSR1-007	KNOWN	basic	protein_coding	CNKSR1	HGNC	protein_coding	OTTHUMT00000089943.2	61	0.00	0	C	NM_006314		26507066	26507066	+1	no_errors	ENST00000374253	ensembl	human	known	69_37n	missense	52	11.48	7	SNP	1.000	G
COL17A1	1308	genome.wustl.edu	37	10	105836073	105836073	+	Missense_Mutation	SNP	C	C	T	rs529850690		TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr10:105836073C>T	ENST00000353479.5	-	5	607	c.317G>A	c.(316-318)cGc>cAc	p.R106H	COL17A1_ENST00000369733.3_Missense_Mutation_p.R106H|COL17A1_ENST00000393211.3_Missense_Mutation_p.R106H	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	106	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ATACGCATGGCGGGTAACGTG	0.512													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20710	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													201.0	201.0	201.0					10																	105836073		2203	4300	6503	-	-	-	SO:0001583	missense	0			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.317G>A	10.37:g.105836073C>T	ENSP00000340937:p.Arg106His		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	pfam_Collagen	p.R106H	ENST00000353479.5	37	c.317	CCDS7554.1	10	.	.	.	.	.	.	.	.	.	.	C	16.09	3.025665	0.54683	.	.	ENSG00000065618	ENST00000353479;ENST00000369733;ENST00000541872;ENST00000393211	T;T;T	0.55760	0.5;0.5;0.5	5.61	4.71	0.59529	.	0.000000	0.46758	D	0.000278	T	0.68375	0.2994	L	0.56769	1.78	0.41450	D	0.987977	B;D;B	0.89917	0.333;1.0;0.225	B;D;B	0.85130	0.042;0.997;0.028	T	0.71830	-0.4474	10	0.66056	D	0.02	-10.5982	14.1453	0.65347	0.0:0.9271:0.0:0.0729	.	106;106;106	Q9UMD9-2;A2A2Y8;Q9UMD9	.;.;COHA1_HUMAN	H	106	ENSP00000340937:R106H;ENSP00000358748:R106H;ENSP00000376905:R106H	ENSP00000340937:R106H	R	-	2	0	COL17A1	105826063	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	3.395000	0.52558	1.376000	0.46267	0.561000	0.74099	CGC	COL17A1	-	NULL	ENSG00000065618		0.512	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL17A1	HGNC	protein_coding	OTTHUMT00000050181.1	151	0.65	1	C	NM_130778, NM_000494		105836073	105836073	-1	no_errors	ENST00000353479	ensembl	human	known	69_37n	missense	81	35.71	45	SNP	1.000	T
COL17A1	1308	genome.wustl.edu	37	10	105836073	105836073	+	Missense_Mutation	SNP	C	C	T	rs529850690		TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr10:105836073C>T	ENST00000353479.5	-	5	607	c.317G>A	c.(316-318)cGc>cAc	p.R106H	COL17A1_ENST00000369733.3_Missense_Mutation_p.R106H|COL17A1_ENST00000393211.3_Missense_Mutation_p.R106H	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	106	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ATACGCATGGCGGGTAACGTG	0.512													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20710	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													201.0	201.0	201.0					10																	105836073		2203	4300	6503	-	-	-	SO:0001583	missense	0			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.317G>A	10.37:g.105836073C>T	ENSP00000340937:p.Arg106His		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	pfam_Collagen	p.R106H	ENST00000353479.5	37	c.317	CCDS7554.1	10	.	.	.	.	.	.	.	.	.	.	C	16.09	3.025665	0.54683	.	.	ENSG00000065618	ENST00000353479;ENST00000369733;ENST00000541872;ENST00000393211	T;T;T	0.55760	0.5;0.5;0.5	5.61	4.71	0.59529	.	0.000000	0.46758	D	0.000278	T	0.68375	0.2994	L	0.56769	1.78	0.41450	D	0.987977	B;D;B	0.89917	0.333;1.0;0.225	B;D;B	0.85130	0.042;0.997;0.028	T	0.71830	-0.4474	10	0.66056	D	0.02	-10.5982	14.1453	0.65347	0.0:0.9271:0.0:0.0729	.	106;106;106	Q9UMD9-2;A2A2Y8;Q9UMD9	.;.;COHA1_HUMAN	H	106	ENSP00000340937:R106H;ENSP00000358748:R106H;ENSP00000376905:R106H	ENSP00000340937:R106H	R	-	2	0	COL17A1	105826063	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	3.395000	0.52558	1.376000	0.46267	0.561000	0.74099	CGC	COL17A1	-	NULL	ENSG00000065618		0.512	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL17A1	HGNC	protein_coding	OTTHUMT00000050181.1	88	0.00	0	C	NM_130778, NM_000494		105836073	105836073	-1	no_errors	ENST00000353479	ensembl	human	known	69_37n	missense	81	35.71	45	SNP	1.000	T
COL3A1	1281	genome.wustl.edu	37	2	189872623	189872623	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr2:189872623C>T	ENST00000304636.3	+	46	3546	c.3376C>T	c.(3376-3378)Cag>Tag	p.Q1126*	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1126	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	CCCTGCTGGTCAGCAGGGTGC	0.478																																						dbGAP											0													71.0	74.0	73.0					2																	189872623		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.3376C>T	2.37:g.189872623C>T	ENSP00000304408:p.Gln1126*		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Nonsense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.Q1126*	ENST00000304636.3	37	c.3376	CCDS2297.1	2	.	.	.	.	.	.	.	.	.	.	C	44	10.828875	0.99474	.	.	ENSG00000168542	ENST00000304636	.	.	.	5.5	5.5	0.81552	.	0.237105	0.29745	N	0.011306	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	14.9494	0.71060	0.0:0.8575:0.1425:0.0	.	.	.	.	X	1126	.	ENSP00000304408:Q1126X	Q	+	1	0	COL3A1	189580868	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	5.360000	0.66086	2.589000	0.87451	0.650000	0.86243	CAG	COL3A1	-	pfam_Collagen	ENSG00000168542		0.478	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL3A1	HGNC	protein_coding	OTTHUMT00000255899.3	68	0.00	0	C	NM_000090		189872623	189872623	+1	no_errors	ENST00000304636	ensembl	human	known	69_37n	nonsense	54	44.33	43	SNP	1.000	T
COL3A1	1281	genome.wustl.edu	37	2	189872623	189872623	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr2:189872623C>T	ENST00000304636.3	+	46	3546	c.3376C>T	c.(3376-3378)Cag>Tag	p.Q1126*	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1126	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	CCCTGCTGGTCAGCAGGGTGC	0.478																																						dbGAP											0													71.0	74.0	73.0					2																	189872623		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.3376C>T	2.37:g.189872623C>T	ENSP00000304408:p.Gln1126*		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Nonsense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.Q1126*	ENST00000304636.3	37	c.3376	CCDS2297.1	2	.	.	.	.	.	.	.	.	.	.	C	44	10.828875	0.99474	.	.	ENSG00000168542	ENST00000304636	.	.	.	5.5	5.5	0.81552	.	0.237105	0.29745	N	0.011306	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	14.9494	0.71060	0.0:0.8575:0.1425:0.0	.	.	.	.	X	1126	.	ENSP00000304408:Q1126X	Q	+	1	0	COL3A1	189580868	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	5.360000	0.66086	2.589000	0.87451	0.650000	0.86243	CAG	COL3A1	-	pfam_Collagen	ENSG00000168542		0.478	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL3A1	HGNC	protein_coding	OTTHUMT00000255899.3	65	0.00	0	C	NM_000090		189872623	189872623	+1	no_errors	ENST00000304636	ensembl	human	known	69_37n	nonsense	54	44.33	43	SNP	1.000	T
CSTF2T	23283	genome.wustl.edu	37	10	53457893	53457893	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr10:53457893C>T	ENST00000331173.4	-	1	1462	c.1417G>A	c.(1417-1419)Ggt>Agt	p.G473S	PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000401604.2_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	473	Gly-rich.				mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		TGAATTCCACCAGTCATAGGG	0.587																																						dbGAP											0													126.0	126.0	126.0					10																	53457893		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"""RNA binding motif (RRM) containing"""	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.1417G>A	10.37:g.53457893C>T	ENSP00000332444:p.Gly473Ser		B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G473S	ENST00000331173.4	37	c.1417	CCDS7245.1	10	.	.	.	.	.	.	.	.	.	.	C	5.095	0.203260	0.09704	.	.	ENSG00000177613	ENST00000331173	T	0.24350	1.86	5.11	1.34	0.21922	.	0.257433	0.38837	N	0.001542	T	0.10465	0.0256	N	0.14661	0.345	0.19775	N	0.999955	B	0.02656	0.0	B	0.04013	0.001	T	0.37842	-0.9688	10	0.02654	T	1	-5.3933	7.8682	0.29549	0.0:0.6355:0.0:0.3645	.	473	Q9H0L4	CSTFT_HUMAN	S	473	ENSP00000332444:G473S	ENSP00000332444:G473S	G	-	1	0	CSTF2T	53127899	0.007000	0.16637	0.967000	0.41034	0.942000	0.58702	0.841000	0.27613	0.276000	0.22118	0.655000	0.94253	GGT	CSTF2T	-	NULL	ENSG00000177613		0.587	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF2T	HGNC	protein_coding	OTTHUMT00000048097.1	142	0.00	0	C	NM_015235		53457893	53457893	-1	no_errors	ENST00000331173	ensembl	human	known	69_37n	missense	100	37.89	61	SNP	0.242	T
CSTF2T	23283	genome.wustl.edu	37	10	53457893	53457893	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr10:53457893C>T	ENST00000331173.4	-	1	1462	c.1417G>A	c.(1417-1419)Ggt>Agt	p.G473S	PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000401604.2_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	473	Gly-rich.				mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		TGAATTCCACCAGTCATAGGG	0.587																																						dbGAP											0													126.0	126.0	126.0					10																	53457893		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"""RNA binding motif (RRM) containing"""	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.1417G>A	10.37:g.53457893C>T	ENSP00000332444:p.Gly473Ser		B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G473S	ENST00000331173.4	37	c.1417	CCDS7245.1	10	.	.	.	.	.	.	.	.	.	.	C	5.095	0.203260	0.09704	.	.	ENSG00000177613	ENST00000331173	T	0.24350	1.86	5.11	1.34	0.21922	.	0.257433	0.38837	N	0.001542	T	0.10465	0.0256	N	0.14661	0.345	0.19775	N	0.999955	B	0.02656	0.0	B	0.04013	0.001	T	0.37842	-0.9688	10	0.02654	T	1	-5.3933	7.8682	0.29549	0.0:0.6355:0.0:0.3645	.	473	Q9H0L4	CSTFT_HUMAN	S	473	ENSP00000332444:G473S	ENSP00000332444:G473S	G	-	1	0	CSTF2T	53127899	0.007000	0.16637	0.967000	0.41034	0.942000	0.58702	0.841000	0.27613	0.276000	0.22118	0.655000	0.94253	GGT	CSTF2T	-	NULL	ENSG00000177613		0.587	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF2T	HGNC	protein_coding	OTTHUMT00000048097.1	91	0.00	0	C	NM_015235		53457893	53457893	-1	no_errors	ENST00000331173	ensembl	human	known	69_37n	missense	100	37.89	61	SNP	0.242	T
CYP11B1	1584	genome.wustl.edu	37	8	143959174	143959174	+	Intron	SNP	T	T	C	rs75717953	byFrequency	TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr8:143959174T>C	ENST00000292427.4	-	3	428				CYP11B1_ENST00000517471.1_Intron|CYP11B1_ENST00000377675.3_Splice_Site_p.R203G	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1						aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CATCCTCACCTACAGCCAGAG	0.557									Familial Hyperaldosteronism type I																													dbGAP											0													61.0	58.0	59.0					8																	143959174		876	1991	2867	-	-	-	SO:0001627	intron_variant	0	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.396-536A>G	8.37:g.143959174T>C			Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_B,prints_Cyt_P450	p.R203G	ENST00000292427.4	37	c.607	CCDS6392.1	8	.	.	.	.	.	.	.	.	.	.	.	5.217	0.225576	0.09916	.	.	ENSG00000160882	ENST00000377675	T	0.68181	-0.31	1.6	-3.2	0.05156	.	.	.	.	.	T	0.46151	0.1378	.	.	.	0.19300	N	0.99998	B	0.02656	0.0	B	0.01281	0.0	T	0.12708	-1.0537	8	0.42905	T	0.14	.	1.1804	0.01844	0.156:0.3861:0.2612:0.1967	.	203	Q4VAR0	.	G	203	ENSP00000366903:R203G	ENSP00000366903:R203G	R	-	1	2	CYP11B1	143956176	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.158000	0.10070	-2.403000	0.00577	-1.307000	0.01316	AGG	CYP11B1	-	superfamily_Cyt_P450	ENSG00000160882		0.557	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B1	HGNC	protein_coding	OTTHUMT00000379475.2	34	0.00	0	T			143959174	143959174	-1	no_errors	ENST00000377675	ensembl	human	novel	69_37n	missense	30	16.67	6	SNP	0.000	C
DDX11	1663	genome.wustl.edu	37	12	31250875	31250875	+	Missense_Mutation	SNP	G	G	C	rs145461857	byFrequency	TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr12:31250875G>C	ENST00000407793.2	+	18	2070	c.1819G>C	c.(1819-1821)Gcc>Ccc	p.A607P	DDX11_ENST00000539673.1_3'UTR|DDX11_ENST00000350437.4_Missense_Mutation_p.A607P|DDX11_ENST00000545668.1_Missense_Mutation_p.A607P|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_Missense_Mutation_p.A607P|DDX11_ENST00000228264.6_Missense_Mutation_p.A581P	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	607					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.A607P(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TGTGCACTTTGCCCAAGTGGT	0.582										Multiple Myeloma(12;0.14)																												dbGAP											2	Substitution - Missense(2)	large_intestine(1)|lung(1)											62.0	66.0	64.0					12																	31250875		2202	4297	6499	-	-	-	SO:0001583	missense	0			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.1819G>C	12.37:g.31250875G>C	ENSP00000384703:p.Ala607Pro		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.A607P	ENST00000407793.2	37	c.1819	CCDS44856.1	12	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836789	0.50951	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000404673;ENST00000228264;ENST00000545668;ENST00000350437	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	3.23	2.32	0.28847	.	0.107907	0.64402	D	0.000006	T	0.51787	0.1695	M	0.85299	2.745	0.80722	D	1	D;D;D;D	0.69078	0.988;0.997;0.989;0.988	P;D;D;P	0.66084	0.868;0.921;0.941;0.868	T	0.50118	-0.8865	10	0.41790	T	0.15	.	8.4401	0.32810	0.1232:0.0:0.8768:0.0	.	581;607;607;607	Q96FC9-3;Q96FC9;Q96FC9-4;Q96FC9-2	.;DDX11_HUMAN;.;.	P	607;607;332;581;607;607	ENSP00000443426:A607P;ENSP00000384703:A607P;ENSP00000228264:A581P;ENSP00000440402:A607P;ENSP00000309965:A607P	ENSP00000228264:A581P	A	+	1	0	DDX11	31142142	1.000000	0.71417	0.993000	0.49108	0.638000	0.38207	5.546000	0.67243	0.536000	0.28733	0.505000	0.49811	GCC	DDX11	-	tigrfam_DNA_helicase_DNA-repair_Rad3	ENSG00000013573		0.582	DDX11-202	KNOWN	basic|CCDS	protein_coding	DDX11	HGNC	protein_coding	OTTHUMT00000399728.1	64	0.00	0	G	NM_030653		31250875	31250875	+1	no_errors	ENST00000407793	ensembl	human	known	69_37n	missense	37	17.78	8	SNP	1.000	C
DNAH7	56171	genome.wustl.edu	37	2	196801373	196801374	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr2:196801373_196801374insA	ENST00000312428.6	-	20	3321_3322	c.3221_3222insT	c.(3220-3222)ttgfs	p.L1074fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1074	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CATCATTGGACAAAAAAAAGAA	0.317																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.3222dupT	2.37:g.196801381_196801381dupA	ENSP00000311273:p.Leu1074fs		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Frame_Shift_Ins	INS	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.L1074fs	ENST00000312428.6	37	c.3222_3221	CCDS42794.1	2																																																																																			DNAH7	-	pfam_Dynein_heavy_dom-2	ENSG00000118997		0.317	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	230	0.00	0	-	NM_018897		196801373	196801374	-1	no_errors	ENST00000312428	ensembl	human	known	69_37n	frame_shift_ins	132	30.53	58	INS	1.000:1.000	A
DNAH7	56171	genome.wustl.edu	37	2	196801373	196801374	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr2:196801373_196801374insA	ENST00000312428.6	-	20	3321_3322	c.3221_3222insT	c.(3220-3222)ttgfs	p.L1074fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1074	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CATCATTGGACAAAAAAAAGAA	0.317																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.3222dupT	2.37:g.196801381_196801381dupA	ENSP00000311273:p.Leu1074fs		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Frame_Shift_Ins	INS	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.L1074fs	ENST00000312428.6	37	c.3222_3221	CCDS42794.1	2																																																																																			DNAH7	-	pfam_Dynein_heavy_dom-2	ENSG00000118997		0.317	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	81	0.00	0	-	NM_018897		196801373	196801374	-1	no_errors	ENST00000312428	ensembl	human	known	69_37n	frame_shift_ins	132	30.53	58	INS	1.000:1.000	A
UPK3B	80761	genome.wustl.edu	37	7	76610355	76610356	+	Intron	INS	-	-	C			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr7:76610355_76610356insC	ENST00000419923.2	+	6	1408				UPK3B_ENST00000443097.2_Intron|DTX2P1-UPK3BP1-PMS2P11_ENST00000584900.1_RNA			Q9BT76	UPK3B_HUMAN	uroplakin 3B						negative regulation of gene expression (GO:0010629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				GCCCCCCAGCACCCCCCCCACA	0.644																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC004304	CCDS5588.1, CCDS5589.1, CCDS64693.1	7q11.2	2003-07-29			ENSG00000243566	ENSG00000243566			21444	protein-coding gene	gene with protein product	"""uroplakin IIIb"""	611887				12446744	Standard	XM_005250612		Approved	MGC10902, p35, UPIIIb, FLJ32198	uc003ufq.3	Q9BT76	OTTHUMG00000149929	ENST00000419923.2:c.961-37785->C	7.37:g.76610363_76610363dupC			A6NHH5|A8K231|A8MZA8|B3KPU5|Q75MM5|Q86W06	RNA	INS	-	NULL	ENST00000419923.2	37	NULL	CCDS5588.1	7																																																																																			DTX2P1-UPK3BP1-PMS2P11	-	-	ENSG00000265479		0.644	UPK3B-201	KNOWN	basic|CCDS	protein_coding	DTX2P1-UPK3BP1-PMS2P11	HGNC	protein_coding		34	0.00	0	-	NM_030570		76610355	76610356	+1	no_errors	ENST00000584900	ensembl	human	known	69_37n	rna	20	16.67	4	INS	0.918:0.847	C
DZANK1	55184	genome.wustl.edu	37	20	18374937	18374937	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr20:18374937C>T	ENST00000358866.6	-	15	1691	c.1669G>A	c.(1669-1671)Gag>Aag	p.E557K	DZANK1_ENST00000357236.4_Missense_Mutation_p.E443K|DZANK1_ENST00000262547.5_Missense_Mutation_p.E557K|DZANK1_ENST00000329494.5_Intron|DZANK1_ENST00000487128.1_5'UTR			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1	557							zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						CCATCACCCTCGGCAGCACTG	0.507																																						dbGAP											0													34.0	37.0	36.0					20																	18374937		1987	4149	6136	-	-	-	SO:0001583	missense	0			AK001462	CCDS46582.1	20p11.23	2013-01-11	2011-10-03	2011-10-03	ENSG00000089091	ENSG00000089091		"""Ankyrin repeat domain containing"""	15858	protein-coding gene	gene with protein product	"""ankyrin repeat domain 64"""		"""chromosome 20 open reading frame 12"""	C20orf84, C20orf12			Standard	NM_001099407		Approved	FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64	uc002wqq.4	Q9NVP4	OTTHUMG00000031968	ENST00000358866.6:c.1669G>A	20.37:g.18374937C>T	ENSP00000351734:p.Glu557Lys		B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.E557K	ENST00000358866.6	37	c.1669	CCDS46582.1	20	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407823	0.42715	.	.	ENSG00000089091	ENST00000377630;ENST00000262547;ENST00000414623;ENST00000377637;ENST00000357236	T;T;T	0.65732	0.01;-0.17;-0.02	5.3	4.36	0.52297	.	.	.	.	.	T	0.73401	0.3582	L	0.57536	1.79	0.18873	N	0.999989	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.74674	0.964;0.984;0.964;0.964	T	0.62553	-0.6830	9	0.59425	D	0.04	-5.0E-4	9.9722	0.41761	0.0:0.9059:0.0:0.0941	.	576;443;557;342	B7Z631;Q9NVP4-4;Q9NVP4;A6NKD0	.;.;DZAN1_HUMAN;.	K	390;557;389;342;443	ENSP00000366857:E390K;ENSP00000262547:E557K;ENSP00000349774:E443K	ENSP00000262547:E557K	E	-	1	0	C20orf12	18322937	0.967000	0.33354	0.082000	0.20525	0.004000	0.04260	2.156000	0.42310	1.361000	0.45981	0.655000	0.94253	GAG	DZANK1	-	NULL	ENSG00000089091		0.507	DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	DZANK1	HGNC	protein_coding	OTTHUMT00000471926.1	53	0.00	0	C	NM_001099407		18374937	18374937	-1	no_errors	ENST00000262547	ensembl	human	known	69_37n	missense	27	41.30	19	SNP	0.140	T
DZANK1	55184	genome.wustl.edu	37	20	18374937	18374937	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr20:18374937C>T	ENST00000358866.6	-	15	1691	c.1669G>A	c.(1669-1671)Gag>Aag	p.E557K	DZANK1_ENST00000357236.4_Missense_Mutation_p.E443K|DZANK1_ENST00000262547.5_Missense_Mutation_p.E557K|DZANK1_ENST00000329494.5_Intron|DZANK1_ENST00000487128.1_5'UTR			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1	557							zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						CCATCACCCTCGGCAGCACTG	0.507																																						dbGAP											0													34.0	37.0	36.0					20																	18374937		1987	4149	6136	-	-	-	SO:0001583	missense	0			AK001462	CCDS46582.1	20p11.23	2013-01-11	2011-10-03	2011-10-03	ENSG00000089091	ENSG00000089091		"""Ankyrin repeat domain containing"""	15858	protein-coding gene	gene with protein product	"""ankyrin repeat domain 64"""		"""chromosome 20 open reading frame 12"""	C20orf84, C20orf12			Standard	NM_001099407		Approved	FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64	uc002wqq.4	Q9NVP4	OTTHUMG00000031968	ENST00000358866.6:c.1669G>A	20.37:g.18374937C>T	ENSP00000351734:p.Glu557Lys		B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.E557K	ENST00000358866.6	37	c.1669	CCDS46582.1	20	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407823	0.42715	.	.	ENSG00000089091	ENST00000377630;ENST00000262547;ENST00000414623;ENST00000377637;ENST00000357236	T;T;T	0.65732	0.01;-0.17;-0.02	5.3	4.36	0.52297	.	.	.	.	.	T	0.73401	0.3582	L	0.57536	1.79	0.18873	N	0.999989	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.74674	0.964;0.984;0.964;0.964	T	0.62553	-0.6830	9	0.59425	D	0.04	-5.0E-4	9.9722	0.41761	0.0:0.9059:0.0:0.0941	.	576;443;557;342	B7Z631;Q9NVP4-4;Q9NVP4;A6NKD0	.;.;DZAN1_HUMAN;.	K	390;557;389;342;443	ENSP00000366857:E390K;ENSP00000262547:E557K;ENSP00000349774:E443K	ENSP00000262547:E557K	E	-	1	0	C20orf12	18322937	0.967000	0.33354	0.082000	0.20525	0.004000	0.04260	2.156000	0.42310	1.361000	0.45981	0.655000	0.94253	GAG	DZANK1	-	NULL	ENSG00000089091		0.507	DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	DZANK1	HGNC	protein_coding	OTTHUMT00000471926.1	56	0.00	0	C	NM_001099407		18374937	18374937	-1	no_errors	ENST00000262547	ensembl	human	known	69_37n	missense	27	41.30	19	SNP	0.140	T
ECEL1	9427	genome.wustl.edu	37	2	233347143	233347143	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr2:233347143T>A	ENST00000304546.1	-	12	1991	c.1781A>T	c.(1780-1782)gAc>gTc	p.D594V	ECEL1_ENST00000409941.1_Missense_Mutation_p.D592V	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	594					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GAAGTCAGGGTCGTACAGGGT	0.612																																						dbGAP											0													135.0	133.0	134.0					2																	233347143		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"""damage induced neuronal endopeptidase"""	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1781A>T	2.37:g.233347143T>A	ENSP00000302051:p.Asp594Val		Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.D594V	ENST00000304546.1	37	c.1781	CCDS2493.1	2	.	.	.	.	.	.	.	.	.	.	T	19.76	3.887674	0.72410	.	.	ENSG00000171551	ENST00000411860;ENST00000304546;ENST00000409941	D;D;D	0.85258	-1.96;-1.96;-1.96	4.9	4.9	0.64082	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.051951	0.85682	D	0.000000	D	0.92701	0.7680	M	0.91561	3.22	0.80722	D	1	B;D	0.63046	0.264;0.992	B;P	0.62298	0.107;0.9	D	0.93898	0.7186	10	0.62326	D	0.03	-11.7263	13.304	0.60342	0.0:0.0:0.0:1.0	.	592;594	O95672-2;O95672	.;ECEL1_HUMAN	V	9;594;592	ENSP00000412683:D9V;ENSP00000302051:D594V;ENSP00000386333:D592V	ENSP00000302051:D594V	D	-	2	0	ECEL1	233055387	1.000000	0.71417	0.996000	0.52242	0.895000	0.52256	5.796000	0.69080	2.068000	0.61886	0.529000	0.55759	GAC	ECEL1	-	pfam_Peptidase_M13_C	ENSG00000171551		0.612	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ECEL1	HGNC	protein_coding	OTTHUMT00000257039.2	66	0.00	0	T	NM_004826		233347143	233347143	-1	no_errors	ENST00000304546	ensembl	human	known	69_37n	missense	11	31.25	5	SNP	1.000	A
ECEL1	9427	genome.wustl.edu	37	2	233347143	233347143	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr2:233347143T>A	ENST00000304546.1	-	12	1991	c.1781A>T	c.(1780-1782)gAc>gTc	p.D594V	ECEL1_ENST00000409941.1_Missense_Mutation_p.D592V	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	594					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GAAGTCAGGGTCGTACAGGGT	0.612																																						dbGAP											0													135.0	133.0	134.0					2																	233347143		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"""damage induced neuronal endopeptidase"""	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1781A>T	2.37:g.233347143T>A	ENSP00000302051:p.Asp594Val		Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.D594V	ENST00000304546.1	37	c.1781	CCDS2493.1	2	.	.	.	.	.	.	.	.	.	.	T	19.76	3.887674	0.72410	.	.	ENSG00000171551	ENST00000411860;ENST00000304546;ENST00000409941	D;D;D	0.85258	-1.96;-1.96;-1.96	4.9	4.9	0.64082	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.051951	0.85682	D	0.000000	D	0.92701	0.7680	M	0.91561	3.22	0.80722	D	1	B;D	0.63046	0.264;0.992	B;P	0.62298	0.107;0.9	D	0.93898	0.7186	10	0.62326	D	0.03	-11.7263	13.304	0.60342	0.0:0.0:0.0:1.0	.	592;594	O95672-2;O95672	.;ECEL1_HUMAN	V	9;594;592	ENSP00000412683:D9V;ENSP00000302051:D594V;ENSP00000386333:D592V	ENSP00000302051:D594V	D	-	2	0	ECEL1	233055387	1.000000	0.71417	0.996000	0.52242	0.895000	0.52256	5.796000	0.69080	2.068000	0.61886	0.529000	0.55759	GAC	ECEL1	-	pfam_Peptidase_M13_C	ENSG00000171551		0.612	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ECEL1	HGNC	protein_coding	OTTHUMT00000257039.2	22	0.00	0	T	NM_004826		233347143	233347143	-1	no_errors	ENST00000304546	ensembl	human	known	69_37n	missense	11	31.25	5	SNP	1.000	A
MAP4K1	11184	genome.wustl.edu	37	19	39110987	39110987	+	5'Flank	SNP	G	G	C			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr19:39110987G>C	ENST00000591517.1	-	0	0				MAP4K1_ENST00000589130.1_5'Flank|EIF3K_ENST00000545173.2_Missense_Mutation_p.E24Q|EIF3K_ENST00000588934.1_Missense_Mutation_p.E24Q|EIF3K_ENST00000592558.1_Missense_Mutation_p.E24Q|EIF3K_ENST00000538434.1_Intron|MAP4K1_ENST00000396857.2_5'Flank|EIF3K_ENST00000248342.4_Missense_Mutation_p.E24Q|EIF3K_ENST00000593062.1_3'UTR|MAP4K1_ENST00000586296.1_5'Flank|EIF3K_ENST00000593149.1_5'UTR	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1						activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTACAATCCTGAGAACCTGGC	0.532																																						dbGAP											0													103.0	76.0	85.0					19																	39110987		2203	4300	6503	-	-	-	SO:0001631	upstream_gene_variant	0			U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918			19.37:g.39110987G>C	Exception_encountered			Missense_Mutation	SNP	pfam_COP9_signalosome_subunit_CSN8,pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25,superfamily_ARM-type_fold	p.E24Q	ENST00000591517.1	37	c.70	CCDS59385.1	19	.	.	.	.	.	.	.	.	.	.	G	19.38	3.817080	0.70912	.	.	ENSG00000178982	ENST00000248342;ENST00000545173	.	.	.	4.64	4.64	0.57946	Translation initiation factor 3, subunit 12, N-terminal, eukaryotic (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.52996	0.1769	L	0.47016	1.485	0.80722	D	1	P;P	0.44241	0.829;0.637	B;B	0.39617	0.305;0.214	T	0.62685	-0.6802	9	0.87932	D	0	-18.3662	17.1358	0.86739	0.0:0.0:1.0:0.0	.	24;24	B7ZAM9;Q9UBQ5	.;EIF3K_HUMAN	Q	24	.	ENSP00000248342:E24Q	E	+	1	0	EIF3K	43802827	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.027000	0.93706	2.489000	0.83994	0.563000	0.77884	GAG	EIF3K	-	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25,superfamily_ARM-type_fold	ENSG00000178982		0.532	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	EIF3K	HGNC	protein_coding	OTTHUMT00000453390.1	79	0.00	0	G	NM_001042600		39110987	39110987	+1	no_errors	ENST00000248342	ensembl	human	known	69_37n	missense	29	30.95	13	SNP	1.000	C
MAP4K1	11184	genome.wustl.edu	37	19	39110987	39110987	+	5'Flank	SNP	G	G	C			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr19:39110987G>C	ENST00000591517.1	-	0	0				MAP4K1_ENST00000589130.1_5'Flank|EIF3K_ENST00000545173.2_Missense_Mutation_p.E24Q|EIF3K_ENST00000588934.1_Missense_Mutation_p.E24Q|EIF3K_ENST00000592558.1_Missense_Mutation_p.E24Q|EIF3K_ENST00000538434.1_Intron|MAP4K1_ENST00000396857.2_5'Flank|EIF3K_ENST00000248342.4_Missense_Mutation_p.E24Q|EIF3K_ENST00000593062.1_3'UTR|MAP4K1_ENST00000586296.1_5'Flank|EIF3K_ENST00000593149.1_5'UTR	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1						activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTACAATCCTGAGAACCTGGC	0.532																																						dbGAP											0													103.0	76.0	85.0					19																	39110987		2203	4300	6503	-	-	-	SO:0001631	upstream_gene_variant	0			U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918			19.37:g.39110987G>C	Exception_encountered			Missense_Mutation	SNP	pfam_COP9_signalosome_subunit_CSN8,pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25,superfamily_ARM-type_fold	p.E24Q	ENST00000591517.1	37	c.70	CCDS59385.1	19	.	.	.	.	.	.	.	.	.	.	G	19.38	3.817080	0.70912	.	.	ENSG00000178982	ENST00000248342;ENST00000545173	.	.	.	4.64	4.64	0.57946	Translation initiation factor 3, subunit 12, N-terminal, eukaryotic (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.52996	0.1769	L	0.47016	1.485	0.80722	D	1	P;P	0.44241	0.829;0.637	B;B	0.39617	0.305;0.214	T	0.62685	-0.6802	9	0.87932	D	0	-18.3662	17.1358	0.86739	0.0:0.0:1.0:0.0	.	24;24	B7ZAM9;Q9UBQ5	.;EIF3K_HUMAN	Q	24	.	ENSP00000248342:E24Q	E	+	1	0	EIF3K	43802827	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.027000	0.93706	2.489000	0.83994	0.563000	0.77884	GAG	EIF3K	-	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25,superfamily_ARM-type_fold	ENSG00000178982		0.532	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	EIF3K	HGNC	protein_coding	OTTHUMT00000453390.1	58	0.00	0	G	NM_001042600		39110987	39110987	+1	no_errors	ENST00000248342	ensembl	human	known	69_37n	missense	29	30.95	13	SNP	1.000	C
EWSR1	2130	genome.wustl.edu	37	22	29693913	29693913	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr22:29693913G>A	ENST00000397938.2	+	13	1710	c.1391G>A	c.(1390-1392)aGa>aAa	p.R464K	EWSR1_ENST00000332035.6_Missense_Mutation_p.R408K|EWSR1_ENST00000331029.7_Missense_Mutation_p.R426K|EWSR1_ENST00000414183.2_Missense_Mutation_p.R469K|EWSR1_ENST00000406548.1_Missense_Mutation_p.R463K|EWSR1_ENST00000332050.6_Missense_Mutation_p.R391K	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	464	Arg/Gly/Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CGTGAGGGCAGAGGCATGCCA	0.483			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""																																	dbGAP		Dom	yes		22	22q12	2130	Ewing sarcoma breakpoint region 1 (EWS)		"""L, M"""	0													76.0	78.0	78.0					22																	29693913		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"""RNA binding motif (RRM) containing"""	3508	protein-coding gene	gene with protein product		133450	"""Ewing sarcoma breakpoint region 1"""			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.1391G>A	22.37:g.29693913G>A	ENSP00000381031:p.Arg464Lys		B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Missense_Mutation	SNP	pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom	p.R469K	ENST00000397938.2	37	c.1406	CCDS13851.1	22	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160541	0.78226	.	.	ENSG00000182944	ENST00000332050;ENST00000397938;ENST00000406548;ENST00000331029;ENST00000414183;ENST00000332035	D;T;T;T;T;T	0.96802	-4.13;-0.91;-0.91;-0.91;-0.91;-0.91	5.79	5.79	0.91817	.	0.000000	0.56097	U	0.000028	D	0.97099	0.9052	L	0.50333	1.59	0.58432	D	0.999997	P;P;P;P;P	0.52842	0.956;0.956;0.956;0.956;0.956	P;P;P;P;P	0.62184	0.899;0.899;0.899;0.899;0.899	D	0.95768	0.8806	10	0.29301	T	0.29	.	20.0263	0.97523	0.0:0.0:1.0:0.0	.	408;463;408;469;464	Q96MN4;Q96FE8;B0QYK1;Q96MX4;Q01844	.;.;.;.;EWS_HUMAN	K	391;464;463;426;469;408	ENSP00000330896:R391K;ENSP00000381031:R464K;ENSP00000385726:R463K;ENSP00000330516:R426K;ENSP00000400142:R469K;ENSP00000331699:R408K	ENSP00000330516:R426K	R	+	2	0	EWSR1	28023913	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	2.611000	0.46334	2.735000	0.93741	0.655000	0.94253	AGA	EWSR1	-	NULL	ENSG00000182944		0.483	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EWSR1	HGNC	protein_coding	OTTHUMT00000321345.1	116	0.00	0	G	NM_005243		29693913	29693913	+1	no_errors	ENST00000414183	ensembl	human	known	69_37n	missense	88	20.72	23	SNP	1.000	A
EWSR1	2130	genome.wustl.edu	37	22	29693913	29693913	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr22:29693913G>A	ENST00000397938.2	+	13	1710	c.1391G>A	c.(1390-1392)aGa>aAa	p.R464K	EWSR1_ENST00000332035.6_Missense_Mutation_p.R408K|EWSR1_ENST00000331029.7_Missense_Mutation_p.R426K|EWSR1_ENST00000414183.2_Missense_Mutation_p.R469K|EWSR1_ENST00000406548.1_Missense_Mutation_p.R463K|EWSR1_ENST00000332050.6_Missense_Mutation_p.R391K	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	464	Arg/Gly/Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CGTGAGGGCAGAGGCATGCCA	0.483			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""																																	dbGAP		Dom	yes		22	22q12	2130	Ewing sarcoma breakpoint region 1 (EWS)		"""L, M"""	0													76.0	78.0	78.0					22																	29693913		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"""RNA binding motif (RRM) containing"""	3508	protein-coding gene	gene with protein product		133450	"""Ewing sarcoma breakpoint region 1"""			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.1391G>A	22.37:g.29693913G>A	ENSP00000381031:p.Arg464Lys		B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Missense_Mutation	SNP	pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom	p.R469K	ENST00000397938.2	37	c.1406	CCDS13851.1	22	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160541	0.78226	.	.	ENSG00000182944	ENST00000332050;ENST00000397938;ENST00000406548;ENST00000331029;ENST00000414183;ENST00000332035	D;T;T;T;T;T	0.96802	-4.13;-0.91;-0.91;-0.91;-0.91;-0.91	5.79	5.79	0.91817	.	0.000000	0.56097	U	0.000028	D	0.97099	0.9052	L	0.50333	1.59	0.58432	D	0.999997	P;P;P;P;P	0.52842	0.956;0.956;0.956;0.956;0.956	P;P;P;P;P	0.62184	0.899;0.899;0.899;0.899;0.899	D	0.95768	0.8806	10	0.29301	T	0.29	.	20.0263	0.97523	0.0:0.0:1.0:0.0	.	408;463;408;469;464	Q96MN4;Q96FE8;B0QYK1;Q96MX4;Q01844	.;.;.;.;EWS_HUMAN	K	391;464;463;426;469;408	ENSP00000330896:R391K;ENSP00000381031:R464K;ENSP00000385726:R463K;ENSP00000330516:R426K;ENSP00000400142:R469K;ENSP00000331699:R408K	ENSP00000330516:R426K	R	+	2	0	EWSR1	28023913	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	2.611000	0.46334	2.735000	0.93741	0.655000	0.94253	AGA	EWSR1	-	NULL	ENSG00000182944		0.483	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EWSR1	HGNC	protein_coding	OTTHUMT00000321345.1	77	0.00	0	G	NM_005243		29693913	29693913	+1	no_errors	ENST00000414183	ensembl	human	known	69_37n	missense	88	20.72	23	SNP	1.000	A
FAT4	79633	genome.wustl.edu	37	4	126337775	126337775	+	Nonsense_Mutation	SNP	C	C	G	rs373528845		TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr4:126337775C>G	ENST00000394329.3	+	6	7029	c.7016C>G	c.(7015-7017)tCa>tGa	p.S2339*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.S637*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2339	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCTACAGATTCAGGTAAGTCC	0.463																																						dbGAP											0													186.0	178.0	181.0					4																	126337775		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.7016C>G	4.37:g.126337775C>G	ENSP00000377862:p.Ser2339*		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S2339*	ENST00000394329.3	37	c.7016	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	C	45	11.962869	0.99622	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	.	.	.	5.33	3.5	0.40072	.	0.747566	0.10229	U	0.699863	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	17.8548	0.88759	0.0:0.7692:0.2308:0.0	.	.	.	.	X	2339;637	.	ENSP00000335169:S637X	S	+	2	0	FAT4	126557225	1.000000	0.71417	0.981000	0.43875	0.004000	0.04260	3.141000	0.50593	0.638000	0.30545	-0.856000	0.03024	TCA	FAT4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000196159		0.463	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	220	0.00	0	C	NM_024582		126337775	126337775	+1	no_errors	ENST00000394329	ensembl	human	known	69_37n	nonsense	91	43.83	71	SNP	0.998	G
FAT4	79633	genome.wustl.edu	37	4	126337775	126337775	+	Nonsense_Mutation	SNP	C	C	G	rs373528845		TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr4:126337775C>G	ENST00000394329.3	+	6	7029	c.7016C>G	c.(7015-7017)tCa>tGa	p.S2339*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.S637*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2339	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCTACAGATTCAGGTAAGTCC	0.463																																						dbGAP											0													186.0	178.0	181.0					4																	126337775		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.7016C>G	4.37:g.126337775C>G	ENSP00000377862:p.Ser2339*		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S2339*	ENST00000394329.3	37	c.7016	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	C	45	11.962869	0.99622	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	.	.	.	5.33	3.5	0.40072	.	0.747566	0.10229	U	0.699863	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	17.8548	0.88759	0.0:0.7692:0.2308:0.0	.	.	.	.	X	2339;637	.	ENSP00000335169:S637X	S	+	2	0	FAT4	126557225	1.000000	0.71417	0.981000	0.43875	0.004000	0.04260	3.141000	0.50593	0.638000	0.30545	-0.856000	0.03024	TCA	FAT4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000196159		0.463	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	204	0.00	0	C	NM_024582		126337775	126337775	+1	no_errors	ENST00000394329	ensembl	human	known	69_37n	nonsense	91	43.83	71	SNP	0.998	G
FMN2	56776	genome.wustl.edu	37	1	240255687	240255687	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr1:240255687C>T	ENST00000319653.9	+	1	508	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	93					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCCGGCGGCTCCCGCGAAGAT	0.622																																						dbGAP											0													16.0	20.0	19.0					1																	240255687		2201	4300	6501	-	-	-	SO:0001583	missense	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.278C>T	1.37:g.240255687C>T	ENSP00000318884:p.Ser93Phe		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom	p.S93F	ENST00000319653.9	37	c.278	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.624951	0.46840	.	.	ENSG00000155816	ENST00000319653	T	0.52983	0.64	4.2	4.2	0.49525	.	0.000000	0.56097	D	0.000028	T	0.65471	0.2694	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	T	0.71174	-0.4670	10	0.87932	D	0	.	16.8962	0.86101	0.0:1.0:0.0:0.0	.	93	Q9NZ56	FMN2_HUMAN	F	93	ENSP00000318884:S93F	ENSP00000318884:S93F	S	+	2	0	FMN2	238322310	1.000000	0.71417	0.997000	0.53966	0.894000	0.52154	6.996000	0.76263	2.037000	0.60232	0.313000	0.20887	TCC	FMN2	-	NULL	ENSG00000155816		0.622	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	10	0.00	0	C	XM_371352		240255687	240255687	+1	no_errors	ENST00000319653	ensembl	human	known	69_37n	missense	7	50.00	7	SNP	1.000	T
FOXA1	3169	genome.wustl.edu	37	14	38061461	38061461	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr14:38061461G>C	ENST00000250448.2	-	2	589	c.528C>G	c.(526-528)atC>atG	p.I176M	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.I143M	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	176					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|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)|transcription regulatory region DNA binding (GO:0044212)	p.I176M(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TGATGAGCGAGATGTACGAGT	0.657																																						dbGAP											2	Substitution - Missense(2)	lung(2)											96.0	88.0	91.0					14																	38061461		2203	4300	6503	-	-	-	SO:0001583	missense	0			U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.528C>G	14.37:g.38061461G>C	ENSP00000250448:p.Ile176Met		B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.I176M	ENST00000250448.2	37	c.528	CCDS9665.1	14	.	.	.	.	.	.	.	.	.	.	G	16.64	3.179477	0.57800	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.95656	-3.77;-3.77	3.88	0.91	0.19337	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.96864	0.8976	M	0.81497	2.545	0.54753	D	0.999983	D	0.89917	1.0	D	0.97110	1.0	D	0.95547	0.8617	10	0.87932	D	0	.	8.7702	0.34728	0.2749:0.0:0.7251:0.0	.	176	P55317	FOXA1_HUMAN	M	176;143	ENSP00000250448:I176M;ENSP00000440178:I143M	ENSP00000250448:I176M	I	-	3	3	FOXA1	37131212	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	2.158000	0.42329	0.318000	0.23185	0.505000	0.49811	ATC	FOXA1	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	ENSG00000129514		0.657	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXA1	HGNC	protein_coding	OTTHUMT00000276735.1	29	0.00	0	G			38061461	38061461	-1	no_errors	ENST00000250448	ensembl	human	known	69_37n	missense	2	77.78	7	SNP	1.000	C
FOXA1	3169	genome.wustl.edu	37	14	38061461	38061461	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr14:38061461G>C	ENST00000250448.2	-	2	589	c.528C>G	c.(526-528)atC>atG	p.I176M	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.I143M	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	176					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|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)|transcription regulatory region DNA binding (GO:0044212)	p.I176M(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TGATGAGCGAGATGTACGAGT	0.657																																						dbGAP											2	Substitution - Missense(2)	lung(2)											96.0	88.0	91.0					14																	38061461		2203	4300	6503	-	-	-	SO:0001583	missense	0			U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.528C>G	14.37:g.38061461G>C	ENSP00000250448:p.Ile176Met		B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.I176M	ENST00000250448.2	37	c.528	CCDS9665.1	14	.	.	.	.	.	.	.	.	.	.	G	16.64	3.179477	0.57800	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.95656	-3.77;-3.77	3.88	0.91	0.19337	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.96864	0.8976	M	0.81497	2.545	0.54753	D	0.999983	D	0.89917	1.0	D	0.97110	1.0	D	0.95547	0.8617	10	0.87932	D	0	.	8.7702	0.34728	0.2749:0.0:0.7251:0.0	.	176	P55317	FOXA1_HUMAN	M	176;143	ENSP00000250448:I176M;ENSP00000440178:I143M	ENSP00000250448:I176M	I	-	3	3	FOXA1	37131212	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	2.158000	0.42329	0.318000	0.23185	0.505000	0.49811	ATC	FOXA1	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	ENSG00000129514		0.657	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXA1	HGNC	protein_coding	OTTHUMT00000276735.1	17	0.00	0	G			38061461	38061461	-1	no_errors	ENST00000250448	ensembl	human	known	69_37n	missense	2	77.78	7	SNP	1.000	C
FOXD4	2298	genome.wustl.edu	37	9	117998	117998	+	Missense_Mutation	SNP	G	G	T	rs66612967	byFrequency	TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr9:117998G>T	ENST00000382500.2	-	1	419	c.122C>A	c.(121-123)gCg>gAg	p.A41E		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	41					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A41E(1)		endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTGGCTCGCCGCCTCCTCCTC	0.682													T|||	111	0.0221645	0.0749	0.013	5008	,	,		13954	0.001		0.002	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	skin(1)											38.0	53.0	48.0					9																	117998		2203	4298	6501	-	-	-	SO:0001583	missense	0			U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"""Forkhead boxes"""	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.122C>A	9.37:g.117998G>T	ENSP00000371940:p.Ala41Glu		B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.A41E	ENST00000382500.2	37	c.122	CCDS34975.1	9	50	0.022893772893772892	43	0.08739837398373984	4	0.011049723756906077	3	0.005244755244755245	0	0.0	.	0.012	-1.673624	0.00758	.	.	ENSG00000170122	ENST00000382500	D	0.94457	-3.43	1.56	1.56	0.23342	.	.	.	.	.	T	0.13030	0.0316	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.57458	-0.7808	9	0.02654	T	1	.	4.5559	0.12136	0.0:0.0:0.3427:0.6573	.	41	Q12950	FOXD4_HUMAN	E	41	ENSP00000371940:A41E	ENSP00000371940:A41E	A	-	2	0	FOXD4	107998	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	-0.379000	0.07437	0.095000	0.17434	-1.316000	0.01300	GCG	FOXD4	-	NULL	ENSG00000170122		0.682	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD4	HGNC	protein_coding	OTTHUMT00000055433.1	78	0.00	0	G	NM_207305		117998	117998	-1	no_errors	ENST00000382500	ensembl	human	known	69_37n	missense	33	13.33	6	SNP	0.002	T
FSIP2	401024	genome.wustl.edu	37	2	186671695	186671695	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr2:186671695G>A	ENST00000424728.1	+	17	17662	c.17662G>A	c.(17662-17664)Gat>Aat	p.D5888N	FSIP2_ENST00000343098.5_Missense_Mutation_p.D5977N			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5888										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAAATCTGCAGATAAAATGCC	0.383																																						dbGAP											0													63.0	60.0	61.0					2																	186671695		1852	4103	5955	-	-	-	SO:0001583	missense	0			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.17662G>A	2.37:g.186671695G>A	ENSP00000401306:p.Asp5888Asn		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	NULL	p.D5977N	ENST00000424728.1	37	c.17929		2	.	.	.	.	.	.	.	.	.	.	G	8.891	0.954023	0.18431	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.50001	0.76;0.76	4.74	1.81	0.25067	.	.	.	.	.	T	0.35856	0.0946	L	0.29908	0.895	0.09310	N	1	.	.	.	.	.	.	T	0.30851	-0.9964	7	0.56958	D	0.05	.	4.1135	0.10070	0.2121:0.1961:0.5918:0.0	.	.	.	.	N	5977;5888	ENSP00000344403:D5977N;ENSP00000401306:D5888N	ENSP00000344403:D5977N	D	+	1	0	FSIP2	186379940	0.001000	0.12720	0.008000	0.14137	0.012000	0.07955	0.915000	0.28638	1.198000	0.43158	0.491000	0.48974	GAT	FSIP2	-	NULL	ENSG00000188738		0.383	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	163	0.00	0	G	NM_173651		186671695	186671695	+1	no_errors	ENST00000343098	ensembl	human	known	69_37n	missense	117	39.06	75	SNP	0.004	A
FSIP2	401024	genome.wustl.edu	37	2	186671695	186671695	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr2:186671695G>A	ENST00000424728.1	+	17	17662	c.17662G>A	c.(17662-17664)Gat>Aat	p.D5888N	FSIP2_ENST00000343098.5_Missense_Mutation_p.D5977N			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5888										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAAATCTGCAGATAAAATGCC	0.383																																						dbGAP											0													63.0	60.0	61.0					2																	186671695		1852	4103	5955	-	-	-	SO:0001583	missense	0			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.17662G>A	2.37:g.186671695G>A	ENSP00000401306:p.Asp5888Asn		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	NULL	p.D5977N	ENST00000424728.1	37	c.17929		2	.	.	.	.	.	.	.	.	.	.	G	8.891	0.954023	0.18431	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.50001	0.76;0.76	4.74	1.81	0.25067	.	.	.	.	.	T	0.35856	0.0946	L	0.29908	0.895	0.09310	N	1	.	.	.	.	.	.	T	0.30851	-0.9964	7	0.56958	D	0.05	.	4.1135	0.10070	0.2121:0.1961:0.5918:0.0	.	.	.	.	N	5977;5888	ENSP00000344403:D5977N;ENSP00000401306:D5888N	ENSP00000344403:D5977N	D	+	1	0	FSIP2	186379940	0.001000	0.12720	0.008000	0.14137	0.012000	0.07955	0.915000	0.28638	1.198000	0.43158	0.491000	0.48974	GAT	FSIP2	-	NULL	ENSG00000188738		0.383	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	193	0.00	0	G	NM_173651		186671695	186671695	+1	no_errors	ENST00000343098	ensembl	human	known	69_37n	missense	117	39.06	75	SNP	0.004	A
GNL3	26354	genome.wustl.edu	37	3	52724624	52724624	+	Silent	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr3:52724624G>A	ENST00000418458.1	+	7	731	c.558G>A	c.(556-558)gaG>gaA	p.E186E	GNL3_ENST00000394799.2_Silent_p.E174E|SNORD69_ENST00000391150.1_RNA|SNORD19B_ENST00000459623.1_RNA|SNORD19_ENST00000410413.1_RNA|SNORD19B_ENST00000516978.1_RNA|SNORD19_ENST00000391191.1_RNA	NM_014366.4|NM_206826.1	NP_055181.3|NP_996562.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	186	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				cell proliferation (GO:0008283)|GTP catabolic process (GO:0006184)|regulation of cell proliferation (GO:0042127)|ribosome biogenesis (GO:0042254)	extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		TACCAAAGGAGAATTTGGAGA	0.453																																						dbGAP											0													190.0	216.0	207.0					3																	52724624		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK027514	CCDS2861.1, CCDS43100.1	3p21.1	2005-01-10			ENSG00000163938	ENSG00000163938			29931	protein-coding gene	gene with protein product		608011				11085516, 12464630	Standard	NM_014366		Approved	C77032, E2IG3, MGC800, NS, nucleostemin	uc003dfd.3	Q9BVP2	OTTHUMG00000158752	ENST00000418458.1:c.558G>A	3.37:g.52724624G>A			B2RDC1|Q5PU80|Q96SV6|Q96SV7|Q9UJY0	Silent	SNP	pfam_Gnl3_N_dom,pfam_GTP_binding_domain	p.E186	ENST00000418458.1	37	c.558	CCDS2861.1	3																																																																																			GNL3	-	NULL	ENSG00000163938		0.453	GNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL3	HGNC	protein_coding	OTTHUMT00000352032.1	292	0.34	1	G	NM_014366		52724624	52724624	+1	no_errors	ENST00000418458	ensembl	human	known	69_37n	silent	107	34.76	57	SNP	0.999	A
GNL3	26354	genome.wustl.edu	37	3	52724624	52724624	+	Silent	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr3:52724624G>A	ENST00000418458.1	+	7	731	c.558G>A	c.(556-558)gaG>gaA	p.E186E	GNL3_ENST00000394799.2_Silent_p.E174E|SNORD69_ENST00000391150.1_RNA|SNORD19B_ENST00000459623.1_RNA|SNORD19_ENST00000410413.1_RNA|SNORD19B_ENST00000516978.1_RNA|SNORD19_ENST00000391191.1_RNA	NM_014366.4|NM_206826.1	NP_055181.3|NP_996562.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	186	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				cell proliferation (GO:0008283)|GTP catabolic process (GO:0006184)|regulation of cell proliferation (GO:0042127)|ribosome biogenesis (GO:0042254)	extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		TACCAAAGGAGAATTTGGAGA	0.453																																						dbGAP											0													190.0	216.0	207.0					3																	52724624		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK027514	CCDS2861.1, CCDS43100.1	3p21.1	2005-01-10			ENSG00000163938	ENSG00000163938			29931	protein-coding gene	gene with protein product		608011				11085516, 12464630	Standard	NM_014366		Approved	C77032, E2IG3, MGC800, NS, nucleostemin	uc003dfd.3	Q9BVP2	OTTHUMG00000158752	ENST00000418458.1:c.558G>A	3.37:g.52724624G>A			B2RDC1|Q5PU80|Q96SV6|Q96SV7|Q9UJY0	Silent	SNP	pfam_Gnl3_N_dom,pfam_GTP_binding_domain	p.E186	ENST00000418458.1	37	c.558	CCDS2861.1	3																																																																																			GNL3	-	NULL	ENSG00000163938		0.453	GNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL3	HGNC	protein_coding	OTTHUMT00000352032.1	194	0.00	0	G	NM_014366		52724624	52724624	+1	no_errors	ENST00000418458	ensembl	human	known	69_37n	silent	107	34.76	57	SNP	0.999	A
GRPR	2925	genome.wustl.edu	37	X	16142101	16142101	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chrX:16142101C>G	ENST00000380289.2	+	1	423	c.25C>G	c.(25-27)Ctg>Gtg	p.L9V		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	9					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CTGTTTCCTTCTGAACTTGGA	0.453											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													174.0	179.0	177.0					X																	16142101		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.25C>G	X.37:g.16142101C>G	ENSP00000369643:p.Leu9Val	708	B2R910	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt	p.L9V	ENST00000380289.2	37	c.25	CCDS14174.1	X	.	.	.	.	.	.	.	.	.	.	C	11.93	1.784801	0.31593	.	.	ENSG00000126010	ENST00000380289	T	0.64803	-0.12	5.39	0.0853	0.14441	.	0.784475	0.11445	N	0.563361	T	0.50034	0.1592	L	0.54323	1.7	0.09310	N	0.999998	B	0.20261	0.043	B	0.24974	0.057	T	0.36866	-0.9730	10	0.17832	T	0.49	-0.3128	4.6225	0.12461	0.2602:0.4936:0.0:0.2462	.	9	P30550	GRPR_HUMAN	V	9	ENSP00000369643:L9V	ENSP00000369643:L9V	L	+	1	2	GRPR	16052022	0.397000	0.25270	0.009000	0.14445	0.967000	0.64934	0.825000	0.27393	0.154000	0.19237	0.600000	0.82982	CTG	GRPR	-	prints_Gastrin_pep_rcpt	ENSG00000126010		0.453	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRPR	HGNC	protein_coding	OTTHUMT00000055901.1	569	0.00	0	C	NM_005314		16142101	16142101	+1	no_errors	ENST00000380289	ensembl	human	known	69_37n	missense	206	35.22	112	SNP	0.030	G
GRPR	2925	genome.wustl.edu	37	X	16142101	16142101	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chrX:16142101C>G	ENST00000380289.2	+	1	423	c.25C>G	c.(25-27)Ctg>Gtg	p.L9V		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	9					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CTGTTTCCTTCTGAACTTGGA	0.453											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													174.0	179.0	177.0					X																	16142101		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.25C>G	X.37:g.16142101C>G	ENSP00000369643:p.Leu9Val	708	B2R910	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt	p.L9V	ENST00000380289.2	37	c.25	CCDS14174.1	X	.	.	.	.	.	.	.	.	.	.	C	11.93	1.784801	0.31593	.	.	ENSG00000126010	ENST00000380289	T	0.64803	-0.12	5.39	0.0853	0.14441	.	0.784475	0.11445	N	0.563361	T	0.50034	0.1592	L	0.54323	1.7	0.09310	N	0.999998	B	0.20261	0.043	B	0.24974	0.057	T	0.36866	-0.9730	10	0.17832	T	0.49	-0.3128	4.6225	0.12461	0.2602:0.4936:0.0:0.2462	.	9	P30550	GRPR_HUMAN	V	9	ENSP00000369643:L9V	ENSP00000369643:L9V	L	+	1	2	GRPR	16052022	0.397000	0.25270	0.009000	0.14445	0.967000	0.64934	0.825000	0.27393	0.154000	0.19237	0.600000	0.82982	CTG	GRPR	-	prints_Gastrin_pep_rcpt	ENSG00000126010		0.453	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRPR	HGNC	protein_coding	OTTHUMT00000055901.1	381	0.00	0	C	NM_005314		16142101	16142101	+1	no_errors	ENST00000380289	ensembl	human	known	69_37n	missense	206	35.22	112	SNP	0.030	G
GSTA1	2938	genome.wustl.edu	37	6	52661025	52661025	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr6:52661025G>A	ENST00000334575.5	-	4	382	c.227C>T	c.(226-228)gCc>gTc	p.A76V	GSTA1_ENST00000493331.1_Intron	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	76	GST N-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|metabolic process (GO:0008152)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Glutathione(DB00143)	GTATTTGCTGGCAATGTAGTT	0.438																																						dbGAP											0													186.0	186.0	186.0					6																	52661025		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4945.1	6p12.2	2012-06-21	2008-11-26		ENSG00000243955	ENSG00000243955	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4626	protein-coding gene	gene with protein product		138359	"""glutathione S-transferase A1"""			9503014	Standard	NM_145740		Approved		uc003paz.3	P08263	OTTHUMG00000014861	ENST00000334575.5:c.227C>T	6.37:g.52661025G>A	ENSP00000335620:p.Ala76Val		Q14750|Q5GHF8|Q5SZC1	Missense_Mutation	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha	p.A76V	ENST00000334575.5	37	c.227	CCDS4945.1	6	.	.	.	.	.	.	.	.	.	.	g	17.02	3.281608	0.59758	.	.	ENSG00000243955	ENST00000334575	T	0.10288	2.89	2.73	2.73	0.32206	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.058421	0.64402	D	0.000002	T	0.41971	0.1182	H	0.99487	4.59	0.52501	D	0.999956	D	0.76494	0.999	D	0.71184	0.972	T	0.67070	-0.5763	10	0.87932	D	0	.	12.9166	0.58209	0.0:0.0:1.0:0.0	.	76	P08263	GSTA1_HUMAN	V	76	ENSP00000335620:A76V	ENSP00000335620:A76V	A	-	2	0	GSTA1	52768984	1.000000	0.71417	0.151000	0.22473	0.621000	0.37620	8.605000	0.90883	1.043000	0.40175	0.195000	0.17529	GCC	GSTA1	-	pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold	ENSG00000243955		0.438	GSTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTA1	HGNC	protein_coding	OTTHUMT00000040922.1	386	0.00	0	G			52661025	52661025	-1	no_errors	ENST00000334575	ensembl	human	known	69_37n	missense	134	40.27	91	SNP	0.984	A
GSTA1	2938	genome.wustl.edu	37	6	52661025	52661025	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr6:52661025G>A	ENST00000334575.5	-	4	382	c.227C>T	c.(226-228)gCc>gTc	p.A76V	GSTA1_ENST00000493331.1_Intron	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	76	GST N-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|metabolic process (GO:0008152)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Glutathione(DB00143)	GTATTTGCTGGCAATGTAGTT	0.438																																						dbGAP											0													186.0	186.0	186.0					6																	52661025		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4945.1	6p12.2	2012-06-21	2008-11-26		ENSG00000243955	ENSG00000243955	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4626	protein-coding gene	gene with protein product		138359	"""glutathione S-transferase A1"""			9503014	Standard	NM_145740		Approved		uc003paz.3	P08263	OTTHUMG00000014861	ENST00000334575.5:c.227C>T	6.37:g.52661025G>A	ENSP00000335620:p.Ala76Val		Q14750|Q5GHF8|Q5SZC1	Missense_Mutation	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha	p.A76V	ENST00000334575.5	37	c.227	CCDS4945.1	6	.	.	.	.	.	.	.	.	.	.	g	17.02	3.281608	0.59758	.	.	ENSG00000243955	ENST00000334575	T	0.10288	2.89	2.73	2.73	0.32206	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.058421	0.64402	D	0.000002	T	0.41971	0.1182	H	0.99487	4.59	0.52501	D	0.999956	D	0.76494	0.999	D	0.71184	0.972	T	0.67070	-0.5763	10	0.87932	D	0	.	12.9166	0.58209	0.0:0.0:1.0:0.0	.	76	P08263	GSTA1_HUMAN	V	76	ENSP00000335620:A76V	ENSP00000335620:A76V	A	-	2	0	GSTA1	52768984	1.000000	0.71417	0.151000	0.22473	0.621000	0.37620	8.605000	0.90883	1.043000	0.40175	0.195000	0.17529	GCC	GSTA1	-	pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold	ENSG00000243955		0.438	GSTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTA1	HGNC	protein_coding	OTTHUMT00000040922.1	297	0.00	0	G			52661025	52661025	-1	no_errors	ENST00000334575	ensembl	human	known	69_37n	missense	134	40.27	91	SNP	0.984	A
GTPBP8	29083	genome.wustl.edu	37	3	112710112	112710113	+	Frame_Shift_Ins	INS	-	-	CG			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr3:112710112_112710113insCG	ENST00000383678.2	+	1	348_349	c.266_267insCG	c.(265-270)gaacggfs	p.ER89fs	GTPBP8_ENST00000383677.3_Frame_Shift_Ins_p.ER89fs|GTPBP8_ENST00000467752.1_5'Flank|GTPBP8_ENST00000473129.1_5'Flank|RP11-484K9.4_ENST00000609673.1_RNA	NM_014170.2	NP_054889.2	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	89					barrier septum assembly (GO:0000917)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						ACGGCCACTGAACGGAACCGCA	0.639																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC037163	CCDS33820.1, CCDS33821.1	3q13.2	2008-02-05			ENSG00000163607	ENSG00000163607			25007	protein-coding gene	gene with protein product							Standard	NM_014170		Approved	HSPC135	uc003dzn.3	Q8N3Z3	OTTHUMG00000159268	Exception_encountered	3.37:g.112710112_112710113insCG	ENSP00000373176:p.Glu89fs		A6NE99|A6NN11|A8K0P6|Q5I0Y4	Frame_Shift_Ins	INS	pfam_GTP_binding_domain,pfam_ProtSyn_GTP-bd,pfam_Fe2_transport_prot_B_N,pfam_SRP_receptor_beta_su,tigrfam_GTP-bd_ribosome_bio_YsxC	p.E89fs	ENST00000383678.2	37	c.266_267	CCDS33820.1	3																																																																																			GTPBP8	-	NULL	ENSG00000163607		0.639	GTPBP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP8	HGNC	protein_coding	OTTHUMT00000354260.2	46	0.00	0	-	NM_014170		112710112	112710113	+1	no_errors	ENST00000383678	ensembl	human	known	69_37n	frame_shift_ins	40	49.37	39	INS	0.000:0.000	CG
GTPBP8	29083	genome.wustl.edu	37	3	112710112	112710113	+	Frame_Shift_Ins	INS	-	-	CG			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr3:112710112_112710113insCG	ENST00000383678.2	+	1	348_349	c.266_267insCG	c.(265-270)gaacggfs	p.ER89fs	GTPBP8_ENST00000383677.3_Frame_Shift_Ins_p.ER89fs|GTPBP8_ENST00000467752.1_5'Flank|GTPBP8_ENST00000473129.1_5'Flank|RP11-484K9.4_ENST00000609673.1_RNA	NM_014170.2	NP_054889.2	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	89					barrier septum assembly (GO:0000917)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						ACGGCCACTGAACGGAACCGCA	0.639																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC037163	CCDS33820.1, CCDS33821.1	3q13.2	2008-02-05			ENSG00000163607	ENSG00000163607			25007	protein-coding gene	gene with protein product							Standard	NM_014170		Approved	HSPC135	uc003dzn.3	Q8N3Z3	OTTHUMG00000159268	Exception_encountered	3.37:g.112710112_112710113insCG	ENSP00000373176:p.Glu89fs		A6NE99|A6NN11|A8K0P6|Q5I0Y4	Frame_Shift_Ins	INS	pfam_GTP_binding_domain,pfam_ProtSyn_GTP-bd,pfam_Fe2_transport_prot_B_N,pfam_SRP_receptor_beta_su,tigrfam_GTP-bd_ribosome_bio_YsxC	p.E89fs	ENST00000383678.2	37	c.266_267	CCDS33820.1	3																																																																																			GTPBP8	-	NULL	ENSG00000163607		0.639	GTPBP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP8	HGNC	protein_coding	OTTHUMT00000354260.2	36	0.00	0	-	NM_014170		112710112	112710113	+1	no_errors	ENST00000383678	ensembl	human	known	69_37n	frame_shift_ins	40	49.37	39	INS	0.000:0.000	CG
HIST1H3B	8358	genome.wustl.edu	37	6	26031883	26031884	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr6:26031883_26031884delCT	ENST00000244661.2	-	1	404_405	c.405_406delAG	c.(403-408)agagcgfs	p.RA135fs		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	135				Missing (in Ref. 2; AAA52651). {ECO:0000305}.	blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						TACATTTACGCTCTTTCTCCGC	0.446																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"""Histones / Replication-dependent"""	4776	protein-coding gene	gene with protein product		602819	"""H3 histone family, member L"", ""histone 1, H3b"""	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.405_406delAG	6.37:g.26031885_26031886delCT	ENSP00000244661:p.Arg135fs		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Frame_Shift_Del	DEL	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.R135fs	ENST00000244661.2	37	c.406_405	CCDS4573.1	6																																																																																			HIST1H3B	-	superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	ENSG00000124693		0.446	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3B	HGNC	protein_coding	OTTHUMT00000040077.1	81	0.00	0	CT	NM_003537		26031883	26031884	-1	no_errors	ENST00000244661	ensembl	human	known	69_37n	frame_shift_del	42	40.85	29	DEL	1.000:0.999	-
HIST1H3B	8358	genome.wustl.edu	37	6	26031883	26031884	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr6:26031883_26031884delCT	ENST00000244661.2	-	1	404_405	c.405_406delAG	c.(403-408)agagcgfs	p.RA135fs		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	135				Missing (in Ref. 2; AAA52651). {ECO:0000305}.	blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						TACATTTACGCTCTTTCTCCGC	0.446																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"""Histones / Replication-dependent"""	4776	protein-coding gene	gene with protein product		602819	"""H3 histone family, member L"", ""histone 1, H3b"""	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.405_406delAG	6.37:g.26031885_26031886delCT	ENSP00000244661:p.Arg135fs		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Frame_Shift_Del	DEL	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.R135fs	ENST00000244661.2	37	c.406_405	CCDS4573.1	6																																																																																			HIST1H3B	-	superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	ENSG00000124693		0.446	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3B	HGNC	protein_coding	OTTHUMT00000040077.1	75	0.00	0	CT	NM_003537		26031883	26031884	-1	no_errors	ENST00000244661	ensembl	human	known	69_37n	frame_shift_del	42	40.85	29	DEL	1.000:0.999	-
HLA-DRB5	3127	genome.wustl.edu	37	6	32489825	32489825	+	Missense_Mutation	SNP	T	T	A	rs148834340	byFrequency	TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr6:32489825T>A	ENST00000374975.3	-	2	289	c.227A>T	c.(226-228)tAc>tTc	p.Y76F		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						CACCGCCCGGTACTCCCCCAC	0.617													T|||	708	0.141374	0.1846	0.0778	5008	,	,		4676	0.1667		0.1312	False		,,,				2504	0.1125					dbGAP											0													37.0	34.0	35.0					6																	32489825		2158	4211	6369	-	-	-	SO:0001583	missense	0				CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.227A>T	6.37:g.32489825T>A	ENSP00000364114:p.Tyr76Phe			Missense_Mutation	SNP	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.Y76F	ENST00000374975.3	37	c.227	CCDS4751.1	6	135	0.061813186813186816	42	0.08536585365853659	28	0.07734806629834254	28	0.04895104895104895	37	0.048812664907651716	.	8.312	0.822355	0.16678	.	.	ENSG00000198502	ENST00000374975	T	0.00235	8.48	4.72	-9.43	0.00607	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (3);MHC classes I/II-like antigen recognition protein (1);	0.724315	0.13812	N	0.361053	T	0.00039	0.0001	N	0.12569	0.235	0.09310	N	1	B;B	0.21905	0.002;0.062	B;B	0.32393	0.014;0.145	T	0.34725	-0.9817	10	0.11182	T	0.66	.	9.9706	0.41752	0.6738:0.0:0.1796:0.1466	.	3;76	Q29973;Q30154	.;DRB5_HUMAN	F	76	ENSP00000364114:Y76F	ENSP00000364114:Y76F	Y	-	2	0	HLA-DRB5	32597803	0.000000	0.05858	0.000000	0.03702	0.920000	0.55202	-6.497000	0.00064	-2.805000	0.00350	0.352000	0.21897	TAC	HLA-DRB5	-	pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N	ENSG00000198502		0.617	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DRB5	HGNC	protein_coding	OTTHUMT00000076022.2	11	0.00	0	T	NM_002125		32489825	32489825	-1	no_errors	ENST00000374975	ensembl	human	known	69_37n	missense	5	44.44	4	SNP	0.000	A
HMP19	51617	genome.wustl.edu	37	5	173534476	173534476	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr5:173534476G>A	ENST00000303177.3	+	5	746	c.484G>A	c.(484-486)Gag>Aag	p.E162K	NSG2_ENST00000521959.1_3'UTR|NSG2_ENST00000521585.1_Intron	NM_015980.4	NP_057064.1	Q9Y328	NSG2_HUMAN		162					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											TGTCATCCATGAGCCCAAGCC	0.657																																						dbGAP											0													16.0	20.0	19.0					5																	173534476		2202	4294	6496	-	-	-	SO:0001583	missense	0																														ENST00000303177.3:c.484G>A	5.37:g.173534476G>A	ENSP00000307722:p.Glu162Lys		B2R5Y0|D3DQN0|Q9UHX8	Missense_Mutation	SNP	pfam_D1-dopamine_rcpt_interact,pirsf_D1-dopamine_rcpt_interact	p.E162K	ENST00000303177.3	37	c.484	CCDS4391.1	5	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688376	0.88639	.	.	ENSG00000170091	ENST00000303177;ENST00000519717	.	.	.	5.35	5.35	0.76521	.	0.094546	0.64402	D	0.000001	T	0.35128	0.0921	N	0.08118	0	0.58432	D	0.999998	P	0.34587	0.458	B	0.28709	0.093	T	0.41980	-0.9478	9	0.87932	D	0	-27.3718	19.0669	0.93114	0.0:0.0:1.0:0.0	.	162	Q9Y328	NSG2_HUMAN	K	162	.	ENSP00000307722:E162K	E	+	1	0	AC011333.1	173467082	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	7.114000	0.77103	2.494000	0.84150	0.655000	0.94253	GAG	HMP19	-	pfam_D1-dopamine_rcpt_interact,pirsf_D1-dopamine_rcpt_interact	ENSG00000170091		0.657	NSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMP19	Clone_based_vega_gene	protein_coding	OTTHUMT00000252966.2	83	0.00	0	G			173534476	173534476	+1	no_errors	ENST00000303177	ensembl	human	known	69_37n	missense	20	44.44	16	SNP	1.000	A
HMP19	51617	genome.wustl.edu	37	5	173534476	173534476	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr5:173534476G>A	ENST00000303177.3	+	5	746	c.484G>A	c.(484-486)Gag>Aag	p.E162K	NSG2_ENST00000521959.1_3'UTR|NSG2_ENST00000521585.1_Intron	NM_015980.4	NP_057064.1	Q9Y328	NSG2_HUMAN		162					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											TGTCATCCATGAGCCCAAGCC	0.657																																						dbGAP											0													16.0	20.0	19.0					5																	173534476		2202	4294	6496	-	-	-	SO:0001583	missense	0																														ENST00000303177.3:c.484G>A	5.37:g.173534476G>A	ENSP00000307722:p.Glu162Lys		B2R5Y0|D3DQN0|Q9UHX8	Missense_Mutation	SNP	pfam_D1-dopamine_rcpt_interact,pirsf_D1-dopamine_rcpt_interact	p.E162K	ENST00000303177.3	37	c.484	CCDS4391.1	5	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688376	0.88639	.	.	ENSG00000170091	ENST00000303177;ENST00000519717	.	.	.	5.35	5.35	0.76521	.	0.094546	0.64402	D	0.000001	T	0.35128	0.0921	N	0.08118	0	0.58432	D	0.999998	P	0.34587	0.458	B	0.28709	0.093	T	0.41980	-0.9478	9	0.87932	D	0	-27.3718	19.0669	0.93114	0.0:0.0:1.0:0.0	.	162	Q9Y328	NSG2_HUMAN	K	162	.	ENSP00000307722:E162K	E	+	1	0	AC011333.1	173467082	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	7.114000	0.77103	2.494000	0.84150	0.655000	0.94253	GAG	HMP19	-	pfam_D1-dopamine_rcpt_interact,pirsf_D1-dopamine_rcpt_interact	ENSG00000170091		0.657	NSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMP19	Clone_based_vega_gene	protein_coding	OTTHUMT00000252966.2	29	0.00	0	G			173534476	173534476	+1	no_errors	ENST00000303177	ensembl	human	known	69_37n	missense	20	44.44	16	SNP	1.000	A
HOXC6	3223	genome.wustl.edu	37	12	54422370	54422370	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr12:54422370C>T	ENST00000243108.4	+	1	229	c.65C>T	c.(64-66)cCc>cTc	p.P22L	HOXC6_ENST00000394331.3_5'UTR|HOXC4_ENST00000303406.4_Intron|RP11-834C11.12_ENST00000513209.1_Intron|RP11-834C11.14_ENST00000512206.1_RNA	NM_004503.3	NP_004494.1	P09630	HXC6_HUMAN	homeobox C6	22					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GACGTCCTCCCCAACGTCGCC	0.542																																						dbGAP											0													80.0	73.0	75.0					12																	54422370		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8871.1, CCDS41792.1	12q13.13	2011-06-20	2005-12-22		ENSG00000197757	ENSG00000197757		"""Homeoboxes / ANTP class : HOXL subclass"""	5128	protein-coding gene	gene with protein product		142972	"""homeo box C6"""	HOX3C, HOX3		1973146, 1358459	Standard	NM_153693		Approved		uc001sev.3	P09630	OTTHUMG00000160027	ENST00000243108.4:c.65C>T	12.37:g.54422370C>T	ENSP00000243108:p.Pro22Leu		B2RBV2|Q6DK09	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.P22L	ENST00000243108.4	37	c.65	CCDS8871.1	12	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991069	0.74703	.	.	ENSG00000197757	ENST00000243108	D	0.92397	-3.03	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.92319	0.7563	M	0.82630	2.6	0.80722	D	1	B	0.24533	0.105	B	0.17979	0.02	D	0.89017	0.3432	10	0.32370	T	0.25	.	18.4191	0.90582	0.0:1.0:0.0:0.0	.	22	P09630	HXC6_HUMAN	L	22	ENSP00000243108:P22L	ENSP00000243108:P22L	P	+	2	0	HOXC6	52708637	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	5.562000	0.67346	2.884000	0.98904	0.655000	0.94253	CCC	HOXC6	-	NULL	ENSG00000197757		0.542	HOXC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC6	HGNC	protein_coding	OTTHUMT00000358943.2	114	0.00	0	C			54422370	54422370	+1	no_errors	ENST00000243108	ensembl	human	known	69_37n	missense	64	14.67	11	SNP	1.000	T
HOXC6	3223	genome.wustl.edu	37	12	54422370	54422370	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr12:54422370C>T	ENST00000243108.4	+	1	229	c.65C>T	c.(64-66)cCc>cTc	p.P22L	HOXC6_ENST00000394331.3_5'UTR|HOXC4_ENST00000303406.4_Intron|RP11-834C11.12_ENST00000513209.1_Intron|RP11-834C11.14_ENST00000512206.1_RNA	NM_004503.3	NP_004494.1	P09630	HXC6_HUMAN	homeobox C6	22					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GACGTCCTCCCCAACGTCGCC	0.542																																						dbGAP											0													80.0	73.0	75.0					12																	54422370		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8871.1, CCDS41792.1	12q13.13	2011-06-20	2005-12-22		ENSG00000197757	ENSG00000197757		"""Homeoboxes / ANTP class : HOXL subclass"""	5128	protein-coding gene	gene with protein product		142972	"""homeo box C6"""	HOX3C, HOX3		1973146, 1358459	Standard	NM_153693		Approved		uc001sev.3	P09630	OTTHUMG00000160027	ENST00000243108.4:c.65C>T	12.37:g.54422370C>T	ENSP00000243108:p.Pro22Leu		B2RBV2|Q6DK09	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.P22L	ENST00000243108.4	37	c.65	CCDS8871.1	12	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991069	0.74703	.	.	ENSG00000197757	ENST00000243108	D	0.92397	-3.03	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.92319	0.7563	M	0.82630	2.6	0.80722	D	1	B	0.24533	0.105	B	0.17979	0.02	D	0.89017	0.3432	10	0.32370	T	0.25	.	18.4191	0.90582	0.0:1.0:0.0:0.0	.	22	P09630	HXC6_HUMAN	L	22	ENSP00000243108:P22L	ENSP00000243108:P22L	P	+	2	0	HOXC6	52708637	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	5.562000	0.67346	2.884000	0.98904	0.655000	0.94253	CCC	HOXC6	-	NULL	ENSG00000197757		0.542	HOXC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC6	HGNC	protein_coding	OTTHUMT00000358943.2	93	0.00	0	C			54422370	54422370	+1	no_errors	ENST00000243108	ensembl	human	known	69_37n	missense	64	14.67	11	SNP	1.000	T
HSPD1	3329	genome.wustl.edu	37	2	198363501	198363501	+	Silent	SNP	C	C	T	rs201599915	byFrequency	TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr2:198363501C>T	ENST00000388968.3	-	2	339	c.72G>A	c.(70-72)cgG>cgA	p.R24R	HSPD1_ENST00000345042.2_Silent_p.R24R|HSPE1_ENST00000233893.5_5'Flank|HSPE1_ENST00000409729.1_5'Flank|HSPD1_ENST00000544407.1_Silent_p.R24R|HSPE1-MOB4_ENST00000604458.1_5'Flank|HSPE1_ENST00000409468.1_5'Flank	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	24					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)	p.R24R(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			TGGCATAAGCCCGAGTGAGAT	0.502																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											59.0	60.0	59.0					2																	198363501		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"""Heat Shock Proteins / Chaperonins"""	5261	protein-coding gene	gene with protein product		118190	"""heat shock 60kD protein 1 (chaperonin)"", ""spastic paraplegia 13 (autosomal dominant)"""	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.72G>A	2.37:g.198363501C>T			B2R5M6|B7Z712|Q38L19|Q9UCR6	Silent	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaprnin_Cpn60,prints_Chaperone_TCP-1,tigrfam_Chaprnin_Cpn60	p.R24	ENST00000388968.3	37	c.72	CCDS33357.1	2																																																																																			HSPD1	-	NULL	ENSG00000144381		0.502	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPD1	HGNC	protein_coding	OTTHUMT00000335324.2	25	0.00	0	C	NM_002156		198363501	198363501	-1	no_errors	ENST00000345042	ensembl	human	known	69_37n	silent	40	24.53	13	SNP	0.995	T
IQCB1	9657	genome.wustl.edu	37	3	121527844	121527844	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr3:121527844C>G	ENST00000310864.6	-	6	620	c.406G>C	c.(406-408)Gat>Cat	p.D136H	IQCB1_ENST00000349820.6_Missense_Mutation_p.D136H	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	136					cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		AGTAATTCATCTTTTTCTTCA	0.323																																						dbGAP											0													57.0	64.0	61.0					3																	121527844		2203	4300	6503	-	-	-	SO:0001583	missense	0			D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"""nephrocystin-5"""	609237	"""IQ calmodulin-binding motif containing 1"""			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.406G>C	3.37:g.121527844C>G	ENSP00000311505:p.Asp136His		Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.D136H	ENST00000310864.6	37	c.406	CCDS33837.1	3	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823393	0.50739	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	T;T	0.08896	3.04;3.04	5.54	4.67	0.58626	.	0.636713	0.18010	N	0.154604	T	0.14570	0.0352	N	0.19112	0.55	0.25580	N	0.986807	D;P	0.76494	0.999;0.95	D;P	0.80764	0.994;0.824	T	0.08027	-1.0742	10	0.54805	T	0.06	-6.5079	9.9319	0.41528	0.0:0.9095:0.0:0.0905	.	136;136	Q15051;Q15051-2	IQCB1_HUMAN;.	H	136	ENSP00000311505:D136H;ENSP00000323756:D136H	ENSP00000311505:D136H	D	-	1	0	IQCB1	123010534	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.722000	0.25925	1.575000	0.49775	0.650000	0.86243	GAT	IQCB1	-	NULL	ENSG00000173226		0.323	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCB1	HGNC	protein_coding	OTTHUMT00000250573.1	55	0.00	0	C	NM_014642		121527844	121527844	-1	no_errors	ENST00000310864	ensembl	human	known	69_37n	missense	49	26.87	18	SNP	1.000	G
IQCB1	9657	genome.wustl.edu	37	3	121527844	121527844	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr3:121527844C>G	ENST00000310864.6	-	6	620	c.406G>C	c.(406-408)Gat>Cat	p.D136H	IQCB1_ENST00000349820.6_Missense_Mutation_p.D136H	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	136					cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		AGTAATTCATCTTTTTCTTCA	0.323																																						dbGAP											0													57.0	64.0	61.0					3																	121527844		2203	4300	6503	-	-	-	SO:0001583	missense	0			D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"""nephrocystin-5"""	609237	"""IQ calmodulin-binding motif containing 1"""			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.406G>C	3.37:g.121527844C>G	ENSP00000311505:p.Asp136His		Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.D136H	ENST00000310864.6	37	c.406	CCDS33837.1	3	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823393	0.50739	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	T;T	0.08896	3.04;3.04	5.54	4.67	0.58626	.	0.636713	0.18010	N	0.154604	T	0.14570	0.0352	N	0.19112	0.55	0.25580	N	0.986807	D;P	0.76494	0.999;0.95	D;P	0.80764	0.994;0.824	T	0.08027	-1.0742	10	0.54805	T	0.06	-6.5079	9.9319	0.41528	0.0:0.9095:0.0:0.0905	.	136;136	Q15051;Q15051-2	IQCB1_HUMAN;.	H	136	ENSP00000311505:D136H;ENSP00000323756:D136H	ENSP00000311505:D136H	D	-	1	0	IQCB1	123010534	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.722000	0.25925	1.575000	0.49775	0.650000	0.86243	GAT	IQCB1	-	NULL	ENSG00000173226		0.323	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCB1	HGNC	protein_coding	OTTHUMT00000250573.1	33	0.00	0	C	NM_014642		121527844	121527844	-1	no_errors	ENST00000310864	ensembl	human	known	69_37n	missense	49	26.87	18	SNP	1.000	G
HTR3E	285242	genome.wustl.edu	37	3	183823927	183823927	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr3:183823927G>A	ENST00000415389.2	+	8	1403	c.937G>A	c.(937-939)Gcc>Acc	p.A313T	HTR3E_ENST00000436361.2_Missense_Mutation_p.A313T|HTR3E_ENST00000335304.2_Missense_Mutation_p.A328T|HTR3E_ENST00000440596.2_Missense_Mutation_p.A339T|HTR3E_ENST00000425359.2_Missense_Mutation_p.A298T|HTR3E-AS1_ENST00000431427.1_RNA	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	313					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	TGTCTACTTCGCCCTGTGCCT	0.637																																					Melanoma(7;227 727 6634 44770)	dbGAP											0													65.0	65.0	65.0					3																	183823927		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24005	protein-coding gene	gene with protein product		610123	"""5-hydroxytryptamine (serotonin) receptor 3, family member E"""			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.937G>A	3.37:g.183823927G>A	ENSP00000401444:p.Ala313Thr		A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel	p.A328T	ENST00000415389.2	37	c.982	CCDS58868.1	3	.	.	.	.	.	.	.	.	.	.	g	11.69	1.714763	0.30413	.	.	ENSG00000186038	ENST00000415389;ENST00000425359;ENST00000335304;ENST00000436361;ENST00000440596	D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06	3.07	1.19	0.21007	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.340875	0.23228	U	0.050485	D	0.83381	0.5242	L	0.45228	1.405	0.25746	N	0.985102	B;D;D;D;D	0.64830	0.381;0.991;0.994;0.994;0.989	B;P;P;P;P	0.60345	0.149;0.873;0.867;0.867;0.799	T	0.71810	-0.4480	10	0.33141	T	0.24	.	3.7739	0.08652	0.1356:0.0:0.626:0.2385	.	339;313;313;328;298	E9PGF1;A5X5Y0;A5X5Y0-4;A5X5Y0-3;A5X5Y0-2	.;5HT3E_HUMAN;.;.;.	T	313;298;328;313;339	ENSP00000401444:A313T;ENSP00000401900:A298T;ENSP00000335511:A328T;ENSP00000395833:A313T;ENSP00000406050:A339T	ENSP00000335511:A328T	A	+	1	0	HTR3E	185306621	0.961000	0.32948	0.980000	0.43619	0.213000	0.24496	2.033000	0.41136	0.133000	0.18654	-0.152000	0.13540	GCC	HTR3E	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM	ENSG00000186038		0.637	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HTR3E	HGNC	protein_coding	OTTHUMT00000346284.1	136	0.72	1	G	NM_182589		183823927	183823927	+1	no_errors	ENST00000335304	ensembl	human	known	69_37n	missense	69	35.78	39	SNP	0.998	A
IQCC	55721	genome.wustl.edu	37	1	32673442	32673443	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr1:32673442_32673443insG	ENST00000291358.6	+	5	1181_1182	c.1160_1161insG	c.(1159-1164)ttggggfs	p.LG387fs	RP4-622L5.7_ENST00000373604.4_RNA|IQCC_ENST00000537469.1_Frame_Shift_Ins_p.LG467fs|DCDC2B_ENST00000409358.1_5'Flank|RP4-622L5.7_ENST00000421616.1_RNA	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	387										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GATGGTACCTTGGGGGGGCCAG	0.55																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AL049795	CCDS355.1, CCDS53293.1	1p36.11-p34.2	2008-02-05			ENSG00000160051	ENSG00000160051			25545	protein-coding gene	gene with protein product							Standard	NM_018134		Approved	FLJ10547	uc001bum.2	Q4KMZ1	OTTHUMG00000005739	ENST00000291358.6:c.1167dupG	1.37:g.32673449_32673449dupG	ENSP00000291358:p.Leu387fs		F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3	Frame_Shift_Ins	INS	pfscan_IQ_motif_EF-hand-BS	p.P470fs	ENST00000291358.6	37	c.1400_1401	CCDS355.1	1																																																																																			IQCC	-	NULL	ENSG00000160051		0.550	IQCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCC	HGNC	protein_coding	OTTHUMT00000015731.3	102	0.97	1	-	NM_018134		32673442	32673443	+1	no_errors	ENST00000537469	ensembl	human	known	69_37n	frame_shift_ins	53	10.17	6	INS	0.258:0.332	G
IRS4	8471	genome.wustl.edu	37	X	107976114	107976114	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chrX:107976114C>G	ENST00000372129.2	-	1	3537	c.3461G>C	c.(3460-3462)gGa>gCa	p.G1154A	RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1154	Ala-rich.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GGAGTCAAATCCAGCAGCTGC	0.647																																						dbGAP											0													32.0	38.0	36.0					X																	107976114		2143	4176	6319	-	-	-	SO:0001583	missense	0			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.3461G>C	X.37:g.107976114C>G	ENSP00000361202:p.Gly1154Ala			Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.G1154A	ENST00000372129.2	37	c.3461	CCDS14544.1	X	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025801	0.35701	.	.	ENSG00000133124	ENST00000372129	T	0.54479	0.57	4.69	4.69	0.59074	.	0.301944	0.24065	N	0.041864	T	0.56702	0.2003	L	0.27053	0.805	0.09310	N	1	D	0.76494	0.999	D	0.83275	0.996	T	0.46345	-0.9198	10	0.27082	T	0.32	-10.4297	11.8022	0.52133	0.0:1.0:0.0:0.0	.	1154	O14654	IRS4_HUMAN	A	1154	ENSP00000361202:G1154A	ENSP00000361202:G1154A	G	-	2	0	IRS4	107862770	0.005000	0.15991	0.116000	0.21606	0.009000	0.06853	1.774000	0.38573	2.562000	0.86427	0.600000	0.82982	GGA	IRS4	-	NULL	ENSG00000133124		0.647	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS4	HGNC	protein_coding	OTTHUMT00000057879.1	74	0.00	0	C	NM_003604		107976114	107976114	-1	no_errors	ENST00000372129	ensembl	human	known	69_37n	missense	37	28.85	15	SNP	0.101	G
IRS4	8471	genome.wustl.edu	37	X	107976114	107976114	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chrX:107976114C>G	ENST00000372129.2	-	1	3537	c.3461G>C	c.(3460-3462)gGa>gCa	p.G1154A	RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1154	Ala-rich.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GGAGTCAAATCCAGCAGCTGC	0.647																																						dbGAP											0													32.0	38.0	36.0					X																	107976114		2143	4176	6319	-	-	-	SO:0001583	missense	0			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.3461G>C	X.37:g.107976114C>G	ENSP00000361202:p.Gly1154Ala			Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.G1154A	ENST00000372129.2	37	c.3461	CCDS14544.1	X	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025801	0.35701	.	.	ENSG00000133124	ENST00000372129	T	0.54479	0.57	4.69	4.69	0.59074	.	0.301944	0.24065	N	0.041864	T	0.56702	0.2003	L	0.27053	0.805	0.09310	N	1	D	0.76494	0.999	D	0.83275	0.996	T	0.46345	-0.9198	10	0.27082	T	0.32	-10.4297	11.8022	0.52133	0.0:1.0:0.0:0.0	.	1154	O14654	IRS4_HUMAN	A	1154	ENSP00000361202:G1154A	ENSP00000361202:G1154A	G	-	2	0	IRS4	107862770	0.005000	0.15991	0.116000	0.21606	0.009000	0.06853	1.774000	0.38573	2.562000	0.86427	0.600000	0.82982	GGA	IRS4	-	NULL	ENSG00000133124		0.647	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS4	HGNC	protein_coding	OTTHUMT00000057879.1	60	0.00	0	C	NM_003604		107976114	107976114	-1	no_errors	ENST00000372129	ensembl	human	known	69_37n	missense	37	28.85	15	SNP	0.101	G
ITGA1	3672	genome.wustl.edu	37	5	52216230	52216230	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr5:52216230G>C	ENST00000282588.6	+	17	2682	c.2224G>C	c.(2224-2226)Gag>Cag	p.E742Q		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	742					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TGGAACTCAAGAGAGAAAGGT	0.348																																						dbGAP											0													100.0	96.0	97.0					5																	52216230		2203	4300	6503	-	-	-	SO:0001583	missense	0			X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.2224G>C	5.37:g.52216230G>C	ENSP00000282588:p.Glu742Gln		B2RNU0	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.E742Q	ENST00000282588.6	37	c.2224	CCDS3955.1	5	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386088	0.82902	.	.	ENSG00000213949	ENST00000282588	T	0.44083	0.93	6.08	6.08	0.98989	Integrin alpha-2 (1);	0.156761	0.56097	D	0.000027	T	0.51736	0.1692	L	0.29908	0.895	0.38406	D	0.945801	D	0.64830	0.994	D	0.67103	0.949	T	0.36163	-0.9759	10	0.19147	T	0.46	.	18.8526	0.92238	0.0:0.0:1.0:0.0	.	742	P56199	ITA1_HUMAN	Q	742	ENSP00000282588:E742Q	ENSP00000282588:E742Q	E	+	1	0	ITGA1	52251987	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	5.595000	0.67563	2.894000	0.99253	0.591000	0.81541	GAG	ITGA1	-	pfam_Integrin_alpha-2	ENSG00000213949		0.348	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA1	HGNC	protein_coding	OTTHUMT00000253855.3	115	0.00	0	G	NM_181501		52216230	52216230	+1	no_errors	ENST00000282588	ensembl	human	known	69_37n	missense	62	43.12	47	SNP	1.000	C
ITGA1	3672	genome.wustl.edu	37	5	52216230	52216230	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr5:52216230G>C	ENST00000282588.6	+	17	2682	c.2224G>C	c.(2224-2226)Gag>Cag	p.E742Q		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	742					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TGGAACTCAAGAGAGAAAGGT	0.348																																						dbGAP											0													100.0	96.0	97.0					5																	52216230		2203	4300	6503	-	-	-	SO:0001583	missense	0			X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.2224G>C	5.37:g.52216230G>C	ENSP00000282588:p.Glu742Gln		B2RNU0	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.E742Q	ENST00000282588.6	37	c.2224	CCDS3955.1	5	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386088	0.82902	.	.	ENSG00000213949	ENST00000282588	T	0.44083	0.93	6.08	6.08	0.98989	Integrin alpha-2 (1);	0.156761	0.56097	D	0.000027	T	0.51736	0.1692	L	0.29908	0.895	0.38406	D	0.945801	D	0.64830	0.994	D	0.67103	0.949	T	0.36163	-0.9759	10	0.19147	T	0.46	.	18.8526	0.92238	0.0:0.0:1.0:0.0	.	742	P56199	ITA1_HUMAN	Q	742	ENSP00000282588:E742Q	ENSP00000282588:E742Q	E	+	1	0	ITGA1	52251987	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	5.595000	0.67563	2.894000	0.99253	0.591000	0.81541	GAG	ITGA1	-	pfam_Integrin_alpha-2	ENSG00000213949		0.348	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA1	HGNC	protein_coding	OTTHUMT00000253855.3	76	0.00	0	G	NM_181501		52216230	52216230	+1	no_errors	ENST00000282588	ensembl	human	known	69_37n	missense	62	43.12	47	SNP	1.000	C
ITGAX	3687	genome.wustl.edu	37	16	31371302	31371302	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr16:31371302G>A	ENST00000268296.4	+	7	744	c.623G>A	c.(622-624)cGc>cAc	p.R208H	ITGAX_ENST00000562522.1_Missense_Mutation_p.R208H	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	208	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GAATTCAGGCGCAGCTCAAAC	0.517																																						dbGAP											0													101.0	103.0	102.0					16																	31371302		2197	4300	6497	-	-	-	SO:0001583	missense	0			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.623G>A	16.37:g.31371302G>A	ENSP00000268296:p.Arg208His		Q8IVA6	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A	p.R208H	ENST00000268296.4	37	c.623	CCDS10711.1	16	.	.	.	.	.	.	.	.	.	.	G	11.36	1.616950	0.28801	.	.	ENSG00000140678	ENST00000268296	T	0.78246	-1.16	4.88	-5.48	0.02592	von Willebrand factor, type A (3);	.	.	.	.	T	0.64800	0.2631	L	0.41492	1.28	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.54002	-0.8358	9	0.56958	D	0.05	.	8.8842	0.35394	0.176:0.46:0.364:0.0	.	208	P20702	ITAX_HUMAN	H	208	ENSP00000268296:R208H	ENSP00000268296:R208H	R	+	2	0	ITGAX	31278803	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.940000	0.01543	-0.882000	0.03987	-0.670000	0.03821	CGC	ITGAX	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000140678		0.517	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAX	HGNC	protein_coding	OTTHUMT00000255628.2	58	0.00	0	G	NM_000887		31371302	31371302	+1	no_errors	ENST00000268296	ensembl	human	known	69_37n	missense	23	42.50	17	SNP	0.000	A
ITGAX	3687	genome.wustl.edu	37	16	31371302	31371302	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr16:31371302G>A	ENST00000268296.4	+	7	744	c.623G>A	c.(622-624)cGc>cAc	p.R208H	ITGAX_ENST00000562522.1_Missense_Mutation_p.R208H	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	208	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GAATTCAGGCGCAGCTCAAAC	0.517																																						dbGAP											0													101.0	103.0	102.0					16																	31371302		2197	4300	6497	-	-	-	SO:0001583	missense	0			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.623G>A	16.37:g.31371302G>A	ENSP00000268296:p.Arg208His		Q8IVA6	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A	p.R208H	ENST00000268296.4	37	c.623	CCDS10711.1	16	.	.	.	.	.	.	.	.	.	.	G	11.36	1.616950	0.28801	.	.	ENSG00000140678	ENST00000268296	T	0.78246	-1.16	4.88	-5.48	0.02592	von Willebrand factor, type A (3);	.	.	.	.	T	0.64800	0.2631	L	0.41492	1.28	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.54002	-0.8358	9	0.56958	D	0.05	.	8.8842	0.35394	0.176:0.46:0.364:0.0	.	208	P20702	ITAX_HUMAN	H	208	ENSP00000268296:R208H	ENSP00000268296:R208H	R	+	2	0	ITGAX	31278803	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.940000	0.01543	-0.882000	0.03987	-0.670000	0.03821	CGC	ITGAX	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000140678		0.517	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAX	HGNC	protein_coding	OTTHUMT00000255628.2	70	0.00	0	G	NM_000887		31371302	31371302	+1	no_errors	ENST00000268296	ensembl	human	known	69_37n	missense	23	42.50	17	SNP	0.000	A
KANK4	163782	genome.wustl.edu	37	1	62738879	62738879	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr1:62738879C>T	ENST00000371153.4	-	3	2275	c.1897G>A	c.(1897-1899)Gtg>Atg	p.V633M	KANK4_ENST00000354381.3_Intron|KANK4_ENST00000371150.1_5'Flank	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	633						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TATTTACCCACTGGCGGGGAG	0.552																																						dbGAP											0													23.0	28.0	26.0					1																	62738879		2185	4281	6466	-	-	-	SO:0001583	missense	0			AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.1897G>A	1.37:g.62738879C>T	ENSP00000360195:p.Val633Met		B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.V633M	ENST00000371153.4	37	c.1897	CCDS620.1	1	.	.	.	.	.	.	.	.	.	.	C	7.326	0.617851	0.14129	.	.	ENSG00000132854	ENST00000371153	T	0.47528	0.84	2.91	-2.39	0.06602	.	0.775612	0.10900	N	0.621672	T	0.12475	0.0303	N	0.00436	-1.5	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.21999	-1.0229	10	0.36615	T	0.2	.	4.1548	0.10256	0.0:0.3966:0.2163:0.387	.	633	Q5T7N3	KANK4_HUMAN	M	633	ENSP00000360195:V633M	ENSP00000360195:V633M	V	-	1	0	KANK4	62511467	0.000000	0.05858	0.000000	0.03702	0.265000	0.26407	-2.126000	0.01316	-0.527000	0.06374	-0.294000	0.09567	GTG	KANK4	-	NULL	ENSG00000132854		0.552	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK4	HGNC	protein_coding	OTTHUMT00000024877.1	30	0.00	0	C	NM_181712		62738879	62738879	-1	no_errors	ENST00000371153	ensembl	human	known	69_37n	missense	29	27.50	11	SNP	0.000	T
KANK4	163782	genome.wustl.edu	37	1	62738879	62738879	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr1:62738879C>T	ENST00000371153.4	-	3	2275	c.1897G>A	c.(1897-1899)Gtg>Atg	p.V633M	KANK4_ENST00000354381.3_Intron|KANK4_ENST00000371150.1_5'Flank	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	633						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TATTTACCCACTGGCGGGGAG	0.552																																						dbGAP											0													23.0	28.0	26.0					1																	62738879		2185	4281	6466	-	-	-	SO:0001583	missense	0			AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.1897G>A	1.37:g.62738879C>T	ENSP00000360195:p.Val633Met		B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.V633M	ENST00000371153.4	37	c.1897	CCDS620.1	1	.	.	.	.	.	.	.	.	.	.	C	7.326	0.617851	0.14129	.	.	ENSG00000132854	ENST00000371153	T	0.47528	0.84	2.91	-2.39	0.06602	.	0.775612	0.10900	N	0.621672	T	0.12475	0.0303	N	0.00436	-1.5	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.21999	-1.0229	10	0.36615	T	0.2	.	4.1548	0.10256	0.0:0.3966:0.2163:0.387	.	633	Q5T7N3	KANK4_HUMAN	M	633	ENSP00000360195:V633M	ENSP00000360195:V633M	V	-	1	0	KANK4	62511467	0.000000	0.05858	0.000000	0.03702	0.265000	0.26407	-2.126000	0.01316	-0.527000	0.06374	-0.294000	0.09567	GTG	KANK4	-	NULL	ENSG00000132854		0.552	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK4	HGNC	protein_coding	OTTHUMT00000024877.1	37	0.00	0	C	NM_181712		62738879	62738879	-1	no_errors	ENST00000371153	ensembl	human	known	69_37n	missense	29	27.50	11	SNP	0.000	T
KIAA1210	57481	genome.wustl.edu	37	X	118284464	118284464	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chrX:118284464G>A	ENST00000402510.2	-	1	78	c.79C>T	c.(79-81)Cac>Tac	p.H27Y		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	27										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GGGCCCAGGTGAGCCAGGTAG	0.607																																						dbGAP											0													41.0	46.0	44.0					X																	118284464		1951	4128	6079	-	-	-	SO:0001583	missense	0			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.79C>T	X.37:g.118284464G>A	ENSP00000384670:p.His27Tyr		B7ZCI8|Q5JPN4	Missense_Mutation	SNP	NULL	p.H27Y	ENST00000402510.2	37	c.79	CCDS48156.1	X	.	.	.	.	.	.	.	.	.	.	G	5.368	0.253248	0.10185	.	.	ENSG00000250423	ENST00000402510	T	0.11821	2.74	3.57	1.77	0.24775	.	.	.	.	.	T	0.05686	0.0149	N	0.08118	0	0.09310	N	1	P	0.41784	0.762	B	0.35353	0.201	T	0.27971	-1.0058	9	0.87932	D	0	.	4.2106	0.10510	0.1363:0.2354:0.6283:0.0	.	27	Q9ULL0	K1210_HUMAN	Y	27	ENSP00000384670:H27Y	ENSP00000384670:H27Y	H	-	1	0	RP13-347D8.6	118168492	0.023000	0.18921	0.000000	0.03702	0.004000	0.04260	1.019000	0.30014	0.343000	0.23821	-0.360000	0.07572	CAC	KIAA1210	-	NULL	ENSG00000250423		0.607	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	HGNC	protein_coding	OTTHUMT00000371251.2	96	0.00	0	G	NM_020721		118284464	118284464	-1	no_errors	ENST00000402510	ensembl	human	known	69_37n	missense	24	36.84	14	SNP	0.000	A
KIAA1210	57481	genome.wustl.edu	37	X	118284464	118284464	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chrX:118284464G>A	ENST00000402510.2	-	1	78	c.79C>T	c.(79-81)Cac>Tac	p.H27Y		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	27										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GGGCCCAGGTGAGCCAGGTAG	0.607																																						dbGAP											0													41.0	46.0	44.0					X																	118284464		1951	4128	6079	-	-	-	SO:0001583	missense	0			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.79C>T	X.37:g.118284464G>A	ENSP00000384670:p.His27Tyr		B7ZCI8|Q5JPN4	Missense_Mutation	SNP	NULL	p.H27Y	ENST00000402510.2	37	c.79	CCDS48156.1	X	.	.	.	.	.	.	.	.	.	.	G	5.368	0.253248	0.10185	.	.	ENSG00000250423	ENST00000402510	T	0.11821	2.74	3.57	1.77	0.24775	.	.	.	.	.	T	0.05686	0.0149	N	0.08118	0	0.09310	N	1	P	0.41784	0.762	B	0.35353	0.201	T	0.27971	-1.0058	9	0.87932	D	0	.	4.2106	0.10510	0.1363:0.2354:0.6283:0.0	.	27	Q9ULL0	K1210_HUMAN	Y	27	ENSP00000384670:H27Y	ENSP00000384670:H27Y	H	-	1	0	RP13-347D8.6	118168492	0.023000	0.18921	0.000000	0.03702	0.004000	0.04260	1.019000	0.30014	0.343000	0.23821	-0.360000	0.07572	CAC	KIAA1210	-	NULL	ENSG00000250423		0.607	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	HGNC	protein_coding	OTTHUMT00000371251.2	42	0.00	0	G	NM_020721		118284464	118284464	-1	no_errors	ENST00000402510	ensembl	human	known	69_37n	missense	24	36.84	14	SNP	0.000	A
KIF21B	23046	genome.wustl.edu	37	1	200973964	200973964	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr1:200973964G>A	ENST00000422435.2	-	6	1146	c.830C>T	c.(829-831)tCa>tTa	p.S277L	KIF21B_ENST00000461742.2_Missense_Mutation_p.S277L|KIF21B_ENST00000360529.5_Missense_Mutation_p.S277L|KIF21B_ENST00000332129.2_Missense_Mutation_p.S277L	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	277	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CAGCCGCTCTGAGCCGGCCAG	0.602																																						dbGAP											0													57.0	53.0	54.0					1																	200973964		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.830C>T	1.37:g.200973964G>A	ENSP00000411831:p.Ser277Leu		B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.S277L	ENST00000422435.2	37	c.830	CCDS58056.1	1	.	.	.	.	.	.	.	.	.	.	g	36	5.773089	0.96922	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58	5.81	5.81	0.92471	Kinesin, motor domain (4);Kinesin, motor region, conserved site (1);	0.000000	0.64402	D	0.000001	D	0.94879	0.8345	H	0.97415	4	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.997;0.996	D;D;D;D	0.80764	0.994;0.994;0.994;0.99	D	0.96080	0.9053	10	0.87932	D	0	.	20.0736	0.97735	0.0:0.0:1.0:0.0	.	277;277;277;277	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	L	277	ENSP00000328494:S277L;ENSP00000353724:S277L;ENSP00000433808:S277L;ENSP00000411831:S277L	ENSP00000328494:S277L	S	-	2	0	KIF21B	199240587	1.000000	0.71417	0.962000	0.40283	0.988000	0.76386	9.209000	0.95087	2.742000	0.94016	0.586000	0.80456	TCA	KIF21B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000116852		0.602	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF21B	HGNC	protein_coding	OTTHUMT00000382635.1	51	0.00	0	G	XM_371332		200973964	200973964	-1	no_errors	ENST00000422435	ensembl	human	known	69_37n	missense	52	21.21	14	SNP	1.000	A
KIF21B	23046	genome.wustl.edu	37	1	200973964	200973964	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr1:200973964G>A	ENST00000422435.2	-	6	1146	c.830C>T	c.(829-831)tCa>tTa	p.S277L	KIF21B_ENST00000461742.2_Missense_Mutation_p.S277L|KIF21B_ENST00000360529.5_Missense_Mutation_p.S277L|KIF21B_ENST00000332129.2_Missense_Mutation_p.S277L	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	277	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CAGCCGCTCTGAGCCGGCCAG	0.602																																						dbGAP											0													57.0	53.0	54.0					1																	200973964		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.830C>T	1.37:g.200973964G>A	ENSP00000411831:p.Ser277Leu		B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.S277L	ENST00000422435.2	37	c.830	CCDS58056.1	1	.	.	.	.	.	.	.	.	.	.	g	36	5.773089	0.96922	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58	5.81	5.81	0.92471	Kinesin, motor domain (4);Kinesin, motor region, conserved site (1);	0.000000	0.64402	D	0.000001	D	0.94879	0.8345	H	0.97415	4	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.997;0.996	D;D;D;D	0.80764	0.994;0.994;0.994;0.99	D	0.96080	0.9053	10	0.87932	D	0	.	20.0736	0.97735	0.0:0.0:1.0:0.0	.	277;277;277;277	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	L	277	ENSP00000328494:S277L;ENSP00000353724:S277L;ENSP00000433808:S277L;ENSP00000411831:S277L	ENSP00000328494:S277L	S	-	2	0	KIF21B	199240587	1.000000	0.71417	0.962000	0.40283	0.988000	0.76386	9.209000	0.95087	2.742000	0.94016	0.586000	0.80456	TCA	KIF21B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000116852		0.602	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF21B	HGNC	protein_coding	OTTHUMT00000382635.1	48	0.00	0	G	XM_371332		200973964	200973964	-1	no_errors	ENST00000422435	ensembl	human	known	69_37n	missense	52	21.21	14	SNP	1.000	A
LAP3	51056	genome.wustl.edu	37	4	17585131	17585131	+	Silent	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr4:17585131G>A	ENST00000226299.4	+	5	679	c.405G>A	c.(403-405)ctG>ctA	p.L135L	LAP3_ENST00000606142.1_Silent_p.L104L	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	135					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						TTCAAGACCTGGAGCTCTCGT	0.522																																						dbGAP											0													115.0	121.0	119.0					4																	17585131		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"""peptidase S"""	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.405G>A	4.37:g.17585131G>A			B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Missense_Mutation	SNP	NULL	p.G90R	ENST00000226299.4	37	c.268	CCDS3422.1	4																																																																																			LAP3	-	NULL	ENSG00000002549		0.522	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAP3	HGNC	protein_coding	OTTHUMT00000250365.1	122	0.00	0	G			17585131	17585131	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000509583	ensembl	human	known	69_37n	missense	96	21.95	27	SNP	1.000	A
LAP3	51056	genome.wustl.edu	37	4	17585131	17585131	+	Silent	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr4:17585131G>A	ENST00000226299.4	+	5	679	c.405G>A	c.(403-405)ctG>ctA	p.L135L	LAP3_ENST00000606142.1_Silent_p.L104L	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	135					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						TTCAAGACCTGGAGCTCTCGT	0.522																																						dbGAP											0													115.0	121.0	119.0					4																	17585131		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"""peptidase S"""	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.405G>A	4.37:g.17585131G>A			B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Missense_Mutation	SNP	NULL	p.G90R	ENST00000226299.4	37	c.268	CCDS3422.1	4																																																																																			LAP3	-	NULL	ENSG00000002549		0.522	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAP3	HGNC	protein_coding	OTTHUMT00000250365.1	84	0.00	0	G			17585131	17585131	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000509583	ensembl	human	known	69_37n	missense	96	21.95	27	SNP	1.000	A
LCE2D	353141	genome.wustl.edu	37	1	152636817	152636817	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr1:152636817G>A	ENST00000368784.1	+	2	291	c.236G>A	c.(235-237)cGt>cAt	p.R79H		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	79	Cys-rich.				keratinization (GO:0031424)			p.R79H(1)		large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACAGGCCCCGTCTCTTCCAC	0.682																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											40.0	55.0	50.0					1																	152636817		2192	4279	6471	-	-	-	SO:0001583	missense	0			BI670513	CCDS1018.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000187223	ENSG00000187223		"""Late cornified envelopes"""	16518	protein-coding gene	gene with protein product		612612	"""small proline rich-like (epidermal differentiation complex) 1A"""	SPRL1A		11698679	Standard	NM_178430		Approved	LEP12	uc001fag.4	Q5TA82	OTTHUMG00000014400	ENST00000368784.1:c.236G>A	1.37:g.152636817G>A	ENSP00000357773:p.Arg79His		A1L4M8	Missense_Mutation	SNP	NULL	p.R79H	ENST00000368784.1	37	c.236	CCDS1018.1	1	.	.	.	.	.	.	.	.	.	.	g	9.016	0.983678	0.18889	.	.	ENSG00000187223	ENST00000368784	T	0.04406	3.63	2.69	-3.13	0.05266	.	.	.	.	.	T	0.00666	0.0022	N	0.10809	0.05	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45614	-0.9249	9	0.20519	T	0.43	.	7.2396	0.26090	0.6444:0.0:0.3556:0.0	.	79	Q5TA82	LCE2D_HUMAN	H	79	ENSP00000357773:R79H	ENSP00000357773:R79H	R	+	2	0	LCE2D	150903441	0.000000	0.05858	0.000000	0.03702	0.435000	0.31806	-3.843000	0.00352	-0.961000	0.03609	-0.680000	0.03767	CGT	LCE2D	-	NULL	ENSG00000187223		0.682	LCE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE2D	HGNC	protein_coding	OTTHUMT00000040058.1	119	0.00	0	G	NM_178430		152636817	152636817	+1	no_errors	ENST00000368784	ensembl	human	known	69_37n	missense	181	16.51	36	SNP	0.000	A
LCE2D	353141	genome.wustl.edu	37	1	152636817	152636817	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr1:152636817G>A	ENST00000368784.1	+	2	291	c.236G>A	c.(235-237)cGt>cAt	p.R79H		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	79	Cys-rich.				keratinization (GO:0031424)			p.R79H(1)		large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACAGGCCCCGTCTCTTCCAC	0.682																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											40.0	55.0	50.0					1																	152636817		2192	4279	6471	-	-	-	SO:0001583	missense	0			BI670513	CCDS1018.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000187223	ENSG00000187223		"""Late cornified envelopes"""	16518	protein-coding gene	gene with protein product		612612	"""small proline rich-like (epidermal differentiation complex) 1A"""	SPRL1A		11698679	Standard	NM_178430		Approved	LEP12	uc001fag.4	Q5TA82	OTTHUMG00000014400	ENST00000368784.1:c.236G>A	1.37:g.152636817G>A	ENSP00000357773:p.Arg79His		A1L4M8	Missense_Mutation	SNP	NULL	p.R79H	ENST00000368784.1	37	c.236	CCDS1018.1	1	.	.	.	.	.	.	.	.	.	.	g	9.016	0.983678	0.18889	.	.	ENSG00000187223	ENST00000368784	T	0.04406	3.63	2.69	-3.13	0.05266	.	.	.	.	.	T	0.00666	0.0022	N	0.10809	0.05	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45614	-0.9249	9	0.20519	T	0.43	.	7.2396	0.26090	0.6444:0.0:0.3556:0.0	.	79	Q5TA82	LCE2D_HUMAN	H	79	ENSP00000357773:R79H	ENSP00000357773:R79H	R	+	2	0	LCE2D	150903441	0.000000	0.05858	0.000000	0.03702	0.435000	0.31806	-3.843000	0.00352	-0.961000	0.03609	-0.680000	0.03767	CGT	LCE2D	-	NULL	ENSG00000187223		0.682	LCE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE2D	HGNC	protein_coding	OTTHUMT00000040058.1	56	0.00	0	G	NM_178430		152636817	152636817	+1	no_errors	ENST00000368784	ensembl	human	known	69_37n	missense	181	16.51	36	SNP	0.000	A
MAMDC2	256691	genome.wustl.edu	37	9	72723278	72723278	+	Silent	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr9:72723278G>A	ENST00000377182.4	+	3	917	c.300G>A	c.(298-300)ctG>ctA	p.L100L	MAMDC2-AS1_ENST00000414515.3_RNA|MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	100	MAM 1. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						CCAGCCAGCTGAACCTCTACA	0.488																																						dbGAP											0													79.0	77.0	77.0					9																	72723278		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.300G>A	9.37:g.72723278G>A			Q5VW47|Q8WX43|Q96BM4	Silent	SNP	pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,prints_MAM_dom,pfscan_MAM_dom	p.L100	ENST00000377182.4	37	c.300	CCDS6631.1	9																																																																																			MAMDC2	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,pfscan_MAM_dom	ENSG00000165072		0.488	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAMDC2	HGNC	protein_coding	OTTHUMT00000052600.1	159	0.00	0	G	NM_153267		72723278	72723278	+1	no_errors	ENST00000377182	ensembl	human	known	69_37n	silent	70	38.60	44	SNP	1.000	A
MAMDC2	256691	genome.wustl.edu	37	9	72723278	72723278	+	Silent	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr9:72723278G>A	ENST00000377182.4	+	3	917	c.300G>A	c.(298-300)ctG>ctA	p.L100L	MAMDC2-AS1_ENST00000414515.3_RNA|MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	100	MAM 1. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						CCAGCCAGCTGAACCTCTACA	0.488																																						dbGAP											0													79.0	77.0	77.0					9																	72723278		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.300G>A	9.37:g.72723278G>A			Q5VW47|Q8WX43|Q96BM4	Silent	SNP	pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,prints_MAM_dom,pfscan_MAM_dom	p.L100	ENST00000377182.4	37	c.300	CCDS6631.1	9																																																																																			MAMDC2	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,pfscan_MAM_dom	ENSG00000165072		0.488	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAMDC2	HGNC	protein_coding	OTTHUMT00000052600.1	125	0.00	0	G	NM_153267		72723278	72723278	+1	no_errors	ENST00000377182	ensembl	human	known	69_37n	silent	70	38.60	44	SNP	1.000	A
MAN1A2	10905	genome.wustl.edu	37	1	117944862	117944862	+	Silent	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr1:117944862G>A	ENST00000356554.3	+	2	1092	c.357G>A	c.(355-357)ttG>ttA	p.L119L	MAN1A2_ENST00000482811.1_Intron	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	119					cellular protein metabolic process (GO:0044267)|lung alveolus development (GO:0048286)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		AGAAGGCCTTGGAAGAAGCAA	0.363																																					Ovarian(33;199 881 8228 13687 31538)	dbGAP											0													63.0	68.0	67.0					1																	117944862		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AF027156	CCDS895.1	1p13	2008-02-05			ENSG00000198162	ENSG00000198162			6822	protein-coding gene	gene with protein product		604345				9592125	Standard	NM_006699		Approved	MAN1B	uc001ehd.1	O60476	OTTHUMG00000012149	ENST00000356554.3:c.357G>A	1.37:g.117944862G>A			Q9H510	Silent	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.L119	ENST00000356554.3	37	c.357	CCDS895.1	1																																																																																			MAN1A2	-	NULL	ENSG00000198162		0.363	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1A2	HGNC	protein_coding	OTTHUMT00000033593.1	299	0.33	1	G	NM_006699		117944862	117944862	+1	no_errors	ENST00000356554	ensembl	human	known	69_37n	silent	178	37.76	108	SNP	0.990	A
MAN1A2	10905	genome.wustl.edu	37	1	117944862	117944862	+	Silent	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr1:117944862G>A	ENST00000356554.3	+	2	1092	c.357G>A	c.(355-357)ttG>ttA	p.L119L	MAN1A2_ENST00000482811.1_Intron	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	119					cellular protein metabolic process (GO:0044267)|lung alveolus development (GO:0048286)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		AGAAGGCCTTGGAAGAAGCAA	0.363																																					Ovarian(33;199 881 8228 13687 31538)	dbGAP											0													63.0	68.0	67.0					1																	117944862		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AF027156	CCDS895.1	1p13	2008-02-05			ENSG00000198162	ENSG00000198162			6822	protein-coding gene	gene with protein product		604345				9592125	Standard	NM_006699		Approved	MAN1B	uc001ehd.1	O60476	OTTHUMG00000012149	ENST00000356554.3:c.357G>A	1.37:g.117944862G>A			Q9H510	Silent	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.L119	ENST00000356554.3	37	c.357	CCDS895.1	1																																																																																			MAN1A2	-	NULL	ENSG00000198162		0.363	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1A2	HGNC	protein_coding	OTTHUMT00000033593.1	201	0.00	0	G	NM_006699		117944862	117944862	+1	no_errors	ENST00000356554	ensembl	human	known	69_37n	silent	178	37.76	108	SNP	0.990	A
MC4R	4160	genome.wustl.edu	37	18	58039364	58039364	+	Silent	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr18:58039364C>T	ENST00000299766.3	-	1	637	c.219G>A	c.(217-219)aaG>aaA	p.K73K		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	73					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				AATGCAGATTCTTGTTCTTGG	0.443																																						dbGAP											0													104.0	99.0	101.0					18																	58039364		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"""GPCR / Class A : Melanocortin receptors"""	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.219G>A	18.37:g.58039364C>T			B2RAC3|Q16317|Q3MIJ6	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Melcrt_ACTH_rcpt,prints_Mcort_rcpt_4,prints_7TM_GPCR_Rhodpsn,prints_Melancort_rcpt,prints_Cnbnoid_rcpt	p.K73	ENST00000299766.3	37	c.219	CCDS11976.1	18																																																																																			MC4R	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Melcrt_ACTH_rcpt	ENSG00000166603		0.443	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MC4R	HGNC	protein_coding	OTTHUMT00000256139.1	194	0.00	0	C	NM_005912		58039364	58039364	-1	no_errors	ENST00000299766	ensembl	human	known	69_37n	silent	99	44.38	79	SNP	1.000	T
MC4R	4160	genome.wustl.edu	37	18	58039364	58039364	+	Silent	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr18:58039364C>T	ENST00000299766.3	-	1	637	c.219G>A	c.(217-219)aaG>aaA	p.K73K		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	73					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				AATGCAGATTCTTGTTCTTGG	0.443																																						dbGAP											0													104.0	99.0	101.0					18																	58039364		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"""GPCR / Class A : Melanocortin receptors"""	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.219G>A	18.37:g.58039364C>T			B2RAC3|Q16317|Q3MIJ6	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Melcrt_ACTH_rcpt,prints_Mcort_rcpt_4,prints_7TM_GPCR_Rhodpsn,prints_Melancort_rcpt,prints_Cnbnoid_rcpt	p.K73	ENST00000299766.3	37	c.219	CCDS11976.1	18																																																																																			MC4R	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Melcrt_ACTH_rcpt	ENSG00000166603		0.443	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MC4R	HGNC	protein_coding	OTTHUMT00000256139.1	212	0.00	0	C	NM_005912		58039364	58039364	-1	no_errors	ENST00000299766	ensembl	human	known	69_37n	silent	99	44.38	79	SNP	1.000	T
MGMT	4255	genome.wustl.edu	37	10	131557478	131557478	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr10:131557478G>A	ENST00000306010.7	+	4	412	c.380G>A	c.(379-381)aGa>aAa	p.R127K		NM_002412.3	NP_002403.2	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase	96				A -> T (in Ref. 2; AAA52317). {ECO:0000305}.	cellular response to ionizing radiation (GO:0071479)|cellular response to organic cyclic compound (GO:0071407)|cellular response to oxidative stress (GO:0034599)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA ligation (GO:0006266)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to toxic substance (GO:0009636)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methylated-DNA-[protein]-cysteine S-methyltransferase activity (GO:0003908)|methyltransferase activity (GO:0008168)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	L-Cysteine(DB00151)	TCGTTCACCAGACAGGTGTTA	0.473								Direct reversal of damage																														dbGAP											0													111.0	116.0	114.0					10																	131557478		2203	4300	6503	-	-	-	SO:0001583	missense	0			M29971	CCDS7660.2	10q26	2005-10-06			ENSG00000170430	ENSG00000170430			7059	protein-coding gene	gene with protein product		156569					Standard	NM_002412		Approved		uc001lkh.2	P16455	OTTHUMG00000019261	ENST00000306010.7:c.380G>A	10.37:g.131557478G>A	ENSP00000302111:p.Arg127Lys		Q5VY78	Missense_Mutation	SNP	pfam_MethylDNA_cys_MeTrfase_DNA-bd,pfam_MethylG_MeTrfase,superfamily_MethylDNA_cys_MeTrfase_DNA-bd,tigrfam_MethylDNA_cys_MeTrfase_DNA-bd	p.R127K	ENST00000306010.7	37	c.380	CCDS7660.2	10	.	.	.	.	.	.	.	.	.	.	G	10.22	1.290145	0.23478	.	.	ENSG00000170430	ENST00000306010	T	0.16897	2.31	5.43	4.51	0.55191	.	0.628588	0.16865	N	0.196369	T	0.07098	0.0180	N	0.02876	-0.465	0.26320	N	0.977684	B	0.23249	0.082	B	0.22152	0.038	T	0.26258	-1.0108	10	0.33141	T	0.24	.	7.3967	0.26939	0.143:0.1463:0.7107:0.0	.	127	B4DEE8	.	K	127	ENSP00000302111:R127K	ENSP00000302111:R127K	R	+	2	0	MGMT	131447468	1.000000	0.71417	0.482000	0.27366	0.879000	0.50718	3.198000	0.51035	1.398000	0.46701	0.650000	0.86243	AGA	MGMT	-	pfam_MethylDNA_cys_MeTrfase_DNA-bd,superfamily_MethylDNA_cys_MeTrfase_DNA-bd,tigrfam_MethylDNA_cys_MeTrfase_DNA-bd	ENSG00000170430		0.473	MGMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGMT	HGNC	protein_coding	OTTHUMT00000051009.3	62	0.00	0	G	NM_002412		131557478	131557478	+1	no_errors	ENST00000306010	ensembl	human	known	69_37n	missense	26	25.71	9	SNP	0.812	A
MGMT	4255	genome.wustl.edu	37	10	131557478	131557478	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr10:131557478G>A	ENST00000306010.7	+	4	412	c.380G>A	c.(379-381)aGa>aAa	p.R127K		NM_002412.3	NP_002403.2	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase	96				A -> T (in Ref. 2; AAA52317). {ECO:0000305}.	cellular response to ionizing radiation (GO:0071479)|cellular response to organic cyclic compound (GO:0071407)|cellular response to oxidative stress (GO:0034599)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA ligation (GO:0006266)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to toxic substance (GO:0009636)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methylated-DNA-[protein]-cysteine S-methyltransferase activity (GO:0003908)|methyltransferase activity (GO:0008168)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	L-Cysteine(DB00151)	TCGTTCACCAGACAGGTGTTA	0.473								Direct reversal of damage																														dbGAP											0													111.0	116.0	114.0					10																	131557478		2203	4300	6503	-	-	-	SO:0001583	missense	0			M29971	CCDS7660.2	10q26	2005-10-06			ENSG00000170430	ENSG00000170430			7059	protein-coding gene	gene with protein product		156569					Standard	NM_002412		Approved		uc001lkh.2	P16455	OTTHUMG00000019261	ENST00000306010.7:c.380G>A	10.37:g.131557478G>A	ENSP00000302111:p.Arg127Lys		Q5VY78	Missense_Mutation	SNP	pfam_MethylDNA_cys_MeTrfase_DNA-bd,pfam_MethylG_MeTrfase,superfamily_MethylDNA_cys_MeTrfase_DNA-bd,tigrfam_MethylDNA_cys_MeTrfase_DNA-bd	p.R127K	ENST00000306010.7	37	c.380	CCDS7660.2	10	.	.	.	.	.	.	.	.	.	.	G	10.22	1.290145	0.23478	.	.	ENSG00000170430	ENST00000306010	T	0.16897	2.31	5.43	4.51	0.55191	.	0.628588	0.16865	N	0.196369	T	0.07098	0.0180	N	0.02876	-0.465	0.26320	N	0.977684	B	0.23249	0.082	B	0.22152	0.038	T	0.26258	-1.0108	10	0.33141	T	0.24	.	7.3967	0.26939	0.143:0.1463:0.7107:0.0	.	127	B4DEE8	.	K	127	ENSP00000302111:R127K	ENSP00000302111:R127K	R	+	2	0	MGMT	131447468	1.000000	0.71417	0.482000	0.27366	0.879000	0.50718	3.198000	0.51035	1.398000	0.46701	0.650000	0.86243	AGA	MGMT	-	pfam_MethylDNA_cys_MeTrfase_DNA-bd,superfamily_MethylDNA_cys_MeTrfase_DNA-bd,tigrfam_MethylDNA_cys_MeTrfase_DNA-bd	ENSG00000170430		0.473	MGMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGMT	HGNC	protein_coding	OTTHUMT00000051009.3	23	0.00	0	G	NM_002412		131557478	131557478	+1	no_errors	ENST00000306010	ensembl	human	known	69_37n	missense	26	25.71	9	SNP	0.812	A
KMT2D	8085	genome.wustl.edu	37	12	49428419	49428419	+	Silent	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr12:49428419G>A	ENST00000301067.7	-	36	10385	c.10386C>T	c.(10384-10386)ctC>ctT	p.L3462L	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3462	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GTCCCCCCGAGAGCCTCTGGG	0.537																																						dbGAP											0													41.0	41.0	41.0					12																	49428419		1957	4137	6094	-	-	-	SO:0001819	synonymous_variant	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10386C>T	12.37:g.49428419G>A			O14687	Silent	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.L3462	ENST00000301067.7	37	c.10386	CCDS44873.1	12																																																																																			MLL2	-	NULL	ENSG00000167548		0.537	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	50	0.00	0	G			49428419	49428419	-1	no_errors	ENST00000301067	ensembl	human	known	69_37n	silent	21	38.24	13	SNP	0.998	A
KMT2D	8085	genome.wustl.edu	37	12	49428419	49428419	+	Silent	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr12:49428419G>A	ENST00000301067.7	-	36	10385	c.10386C>T	c.(10384-10386)ctC>ctT	p.L3462L	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3462	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GTCCCCCCGAGAGCCTCTGGG	0.537																																						dbGAP											0													41.0	41.0	41.0					12																	49428419		1957	4137	6094	-	-	-	SO:0001819	synonymous_variant	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10386C>T	12.37:g.49428419G>A			O14687	Silent	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.L3462	ENST00000301067.7	37	c.10386	CCDS44873.1	12																																																																																			MLL2	-	NULL	ENSG00000167548		0.537	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	54	0.00	0	G			49428419	49428419	-1	no_errors	ENST00000301067	ensembl	human	known	69_37n	silent	21	38.24	13	SNP	0.998	A
MTA2	9219	genome.wustl.edu	37	11	62363528	62363528	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr11:62363528C>T	ENST00000278823.2	-	12	1457	c.1068G>A	c.(1066-1068)atG>atA	p.M356I	MTA2_ENST00000527204.1_Missense_Mutation_p.M183I|MTA2_ENST00000524902.1_Missense_Mutation_p.M183I	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	356					ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						CAGCCCCATTCATGCCAGGTT	0.532																																						dbGAP											0													102.0	92.0	96.0					11																	62363528		2202	4299	6501	-	-	-	SO:0001583	missense	0			AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.1068G>A	11.37:g.62363528C>T	ENSP00000278823:p.Met356Ile		Q68DB1|Q9UQB5	Missense_Mutation	SNP	pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.M356I	ENST00000278823.2	37	c.1068	CCDS8022.1	11	.	.	.	.	.	.	.	.	.	.	C	13.54	2.266883	0.40095	.	.	ENSG00000149480	ENST00000278823;ENST00000524902;ENST00000527204	T;T;T	0.41065	1.6;1.01;1.01	5.87	5.87	0.94306	.	0.080538	0.85682	D	0.000000	T	0.34221	0.0890	L	0.40543	1.245	0.49483	D	0.999795	B	0.02656	0.0	B	0.01281	0.0	T	0.07009	-1.0795	10	0.28530	T	0.3	-20.6735	12.6359	0.56683	0.1652:0.8348:0.0:0.0	.	356	O94776	MTA2_HUMAN	I	356;183;183	ENSP00000278823:M356I;ENSP00000431346:M183I;ENSP00000431797:M183I	ENSP00000278823:M356I	M	-	3	0	MTA2	62120104	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.489000	0.35562	2.778000	0.95560	0.650000	0.86243	ATG	MTA2	-	NULL	ENSG00000149480		0.532	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTA2	HGNC	protein_coding	OTTHUMT00000395578.1	66	0.00	0	C	NM_004739		62363528	62363528	-1	no_errors	ENST00000278823	ensembl	human	known	69_37n	missense	69	34.29	36	SNP	1.000	T
MTA2	9219	genome.wustl.edu	37	11	62363528	62363528	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr11:62363528C>T	ENST00000278823.2	-	12	1457	c.1068G>A	c.(1066-1068)atG>atA	p.M356I	MTA2_ENST00000527204.1_Missense_Mutation_p.M183I|MTA2_ENST00000524902.1_Missense_Mutation_p.M183I	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	356					ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						CAGCCCCATTCATGCCAGGTT	0.532																																						dbGAP											0													102.0	92.0	96.0					11																	62363528		2202	4299	6501	-	-	-	SO:0001583	missense	0			AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.1068G>A	11.37:g.62363528C>T	ENSP00000278823:p.Met356Ile		Q68DB1|Q9UQB5	Missense_Mutation	SNP	pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.M356I	ENST00000278823.2	37	c.1068	CCDS8022.1	11	.	.	.	.	.	.	.	.	.	.	C	13.54	2.266883	0.40095	.	.	ENSG00000149480	ENST00000278823;ENST00000524902;ENST00000527204	T;T;T	0.41065	1.6;1.01;1.01	5.87	5.87	0.94306	.	0.080538	0.85682	D	0.000000	T	0.34221	0.0890	L	0.40543	1.245	0.49483	D	0.999795	B	0.02656	0.0	B	0.01281	0.0	T	0.07009	-1.0795	10	0.28530	T	0.3	-20.6735	12.6359	0.56683	0.1652:0.8348:0.0:0.0	.	356	O94776	MTA2_HUMAN	I	356;183;183	ENSP00000278823:M356I;ENSP00000431346:M183I;ENSP00000431797:M183I	ENSP00000278823:M356I	M	-	3	0	MTA2	62120104	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.489000	0.35562	2.778000	0.95560	0.650000	0.86243	ATG	MTA2	-	NULL	ENSG00000149480		0.532	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTA2	HGNC	protein_coding	OTTHUMT00000395578.1	153	0.65	1	C	NM_004739		62363528	62363528	-1	no_errors	ENST00000278823	ensembl	human	known	69_37n	missense	69	34.29	36	SNP	1.000	T
MUC20	200958	genome.wustl.edu	37	3	195452960	195452960	+	Missense_Mutation	SNP	G	G	A	rs4093817	byFrequency	TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr3:195452960G>A	ENST00000447234.2	+	2	1612	c.1486G>A	c.(1486-1488)Gtt>Att	p.V496I	MUC20_ENST00000320736.6_Missense_Mutation_p.V325I|MUC20_ENST00000436408.1_Missense_Mutation_p.V496I|MUC20_ENST00000445522.2_Missense_Mutation_p.V461I	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	496	Involved in oligomerization.		Missing. {ECO:0000269|PubMed:14702039}.	V -> I (in Ref. 5; AAH29267). {ECO:0000305}.	activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TGATGCCACGGTTGGGACCCC	0.597																																						dbGAP											0													57.0	51.0	53.0					3																	195452960		2183	4280	6463	-	-	-	SO:0001583	missense	0			AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1486G>A	3.37:g.195452960G>A	ENSP00000414350:p.Val496Ile		Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Missense_Mutation	SNP	NULL	p.V496I	ENST00000447234.2	37	c.1486		3	.	.	.	.	.	.	.	.	.	.	G	9.647	1.140515	0.21205	.	.	ENSG00000176945	ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522	T;T;T;T	0.15718	2.82;2.84;2.99;2.4	3.86	-0.128	0.13506	.	0.860472	0.09679	N	0.770091	T	0.10981	0.0268	L	0.32530	0.975	0.09310	N	1	B	0.23891	0.093	B	0.17433	0.018	T	0.36359	-0.9751	10	0.27785	T	0.31	0.7218	5.1463	0.14987	0.2242:0.4104:0.3653:0.0	rs4093817	325	E9PH32	.	I	496;325;496;461	ENSP00000414350:V496I;ENSP00000325431:V325I;ENSP00000396774:V496I;ENSP00000405629:V461I	ENSP00000325431:V325I	V	+	1	0	MUC20	196938631	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.098000	0.15189	-0.151000	0.11176	-0.351000	0.07748	GTT	MUC20	-	NULL	ENSG00000176945		0.597	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	MUC20	HGNC	protein_coding	OTTHUMT00000341835.1	49	0.00	0	G	NM_152673		195452960	195452960	+1	no_errors	ENST00000447234	ensembl	human	known	69_37n	missense	25	13.79	4	SNP	0.003	A
MYH9	4627	genome.wustl.edu	37	22	36689510	36689512	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr22:36689510_36689512delCTC	ENST00000216181.5	-	30	4188_4190	c.3958_3960delGAG	c.(3958-3960)gagdel	p.E1320del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1320					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.E1320D(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCTGCCGGTTCTCCTCCTGCAGC	0.616			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													dbGAP		Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	1	Substitution - Missense(1)	large_intestine(1)																																								-	-	-	SO:0001651	inframe_deletion	0	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.3958_3960delGAG	22.37:g.36689513_36689515delCTC	ENSP00000216181:p.Glu1320del		A8K6E4|O60805|Q60FE2|Q86T83	In_Frame_Del	DEL	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.E1320in_frame_del	ENST00000216181.5	37	c.3960_3958	CCDS13927.1	22																																																																																			MYH9	-	pfam_Myosin_tail	ENSG00000100345		0.616	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	57	0.00	0	CTC	NM_002473		36689510	36689512	-1	no_errors	ENST00000216181	ensembl	human	known	69_37n	in_frame_del	11	29.41	5	DEL	1.000:1.000:1.000	-
MYH9	4627	genome.wustl.edu	37	22	36689510	36689512	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr22:36689510_36689512delCTC	ENST00000216181.5	-	30	4188_4190	c.3958_3960delGAG	c.(3958-3960)gagdel	p.E1320del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1320					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.E1320D(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCTGCCGGTTCTCCTCCTGCAGC	0.616			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													dbGAP		Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	1	Substitution - Missense(1)	large_intestine(1)																																								-	-	-	SO:0001651	inframe_deletion	0	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.3958_3960delGAG	22.37:g.36689513_36689515delCTC	ENSP00000216181:p.Glu1320del		A8K6E4|O60805|Q60FE2|Q86T83	In_Frame_Del	DEL	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.E1320in_frame_del	ENST00000216181.5	37	c.3960_3958	CCDS13927.1	22																																																																																			MYH9	-	pfam_Myosin_tail	ENSG00000100345		0.616	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	34	0.00	0	CTC	NM_002473		36689510	36689512	-1	no_errors	ENST00000216181	ensembl	human	known	69_37n	in_frame_del	11	29.41	5	DEL	1.000:1.000:1.000	-
MYO10	4651	genome.wustl.edu	37	5	16761623	16761623	+	Silent	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr5:16761623C>T	ENST00000513610.1	-	17	2143	c.1689G>A	c.(1687-1689)aaG>aaA	p.K563K		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	563	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TATCTCTGTTCTTCTCCAAGA	0.378																																						dbGAP											0													105.0	101.0	102.0					5																	16761623		1844	4096	5940	-	-	-	SO:0001819	synonymous_variant	0			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.1689G>A	5.37:g.16761623C>T			A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom	p.K563	ENST00000513610.1	37	c.1689	CCDS54834.1	5																																																																																			MYO10	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000145555		0.378	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO10	HGNC	protein_coding	OTTHUMT00000366167.1	102	0.00	0	C	NM_012334		16761623	16761623	-1	no_errors	ENST00000513610	ensembl	human	known	69_37n	silent	58	34.09	30	SNP	1.000	T
MYO10	4651	genome.wustl.edu	37	5	16761623	16761623	+	Silent	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr5:16761623C>T	ENST00000513610.1	-	17	2143	c.1689G>A	c.(1687-1689)aaG>aaA	p.K563K		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	563	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TATCTCTGTTCTTCTCCAAGA	0.378																																						dbGAP											0													105.0	101.0	102.0					5																	16761623		1844	4096	5940	-	-	-	SO:0001819	synonymous_variant	0			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.1689G>A	5.37:g.16761623C>T			A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom	p.K563	ENST00000513610.1	37	c.1689	CCDS54834.1	5																																																																																			MYO10	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000145555		0.378	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO10	HGNC	protein_coding	OTTHUMT00000366167.1	56	0.00	0	C	NM_012334		16761623	16761623	-1	no_errors	ENST00000513610	ensembl	human	known	69_37n	silent	58	34.09	30	SNP	1.000	T
NLRP7	199713	genome.wustl.edu	37	19	55450858	55450859	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr19:55450858_55450859insT	ENST00000590030.1	-	3	1368_1369	c.1328_1329insA	c.(1327-1329)tccfs	p.S443fs	NLRP7_ENST00000592784.1_Frame_Shift_Ins_p.S443fs|NLRP7_ENST00000340844.2_Frame_Shift_Ins_p.S443fs|NLRP7_ENST00000446217.1_Frame_Shift_Ins_p.S471fs|NLRP7_ENST00000328092.5_Frame_Shift_Ins_p.S443fs|NLRP7_ENST00000448121.2_Frame_Shift_Ins_p.S443fs|NLRP7_ENST00000588756.1_Frame_Shift_Ins_p.S443fs			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	443	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GACGGAGGTCGGACTCCTGCAC	0.644																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1328_1329insA	19.37:g.55450858_55450859insT	ENSP00000465520:p.Ser443fs		E9PE16|Q32MH8|Q7RTR1	Frame_Shift_Ins	INS	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.D472fs	ENST00000590030.1	37	c.1413_1412	CCDS33109.1	19																																																																																			NLRP7	-	NULL	ENSG00000167634		0.644	NLRP7-003	KNOWN	basic|CCDS	protein_coding	NLRP7	HGNC	protein_coding	OTTHUMT00000451396.1	57	0.00	0	-	NM_139176		55450858	55450859	-1	no_errors	ENST00000446217	ensembl	human	known	69_37n	frame_shift_ins	30	59.46	44	INS	0.000:0.000	T
NLRP7	199713	genome.wustl.edu	37	19	55450858	55450859	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr19:55450858_55450859insT	ENST00000590030.1	-	3	1368_1369	c.1328_1329insA	c.(1327-1329)tccfs	p.S443fs	NLRP7_ENST00000592784.1_Frame_Shift_Ins_p.S443fs|NLRP7_ENST00000340844.2_Frame_Shift_Ins_p.S443fs|NLRP7_ENST00000446217.1_Frame_Shift_Ins_p.S471fs|NLRP7_ENST00000328092.5_Frame_Shift_Ins_p.S443fs|NLRP7_ENST00000448121.2_Frame_Shift_Ins_p.S443fs|NLRP7_ENST00000588756.1_Frame_Shift_Ins_p.S443fs			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	443	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GACGGAGGTCGGACTCCTGCAC	0.644																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1328_1329insA	19.37:g.55450858_55450859insT	ENSP00000465520:p.Ser443fs		E9PE16|Q32MH8|Q7RTR1	Frame_Shift_Ins	INS	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.D472fs	ENST00000590030.1	37	c.1413_1412	CCDS33109.1	19																																																																																			NLRP7	-	NULL	ENSG00000167634		0.644	NLRP7-003	KNOWN	basic|CCDS	protein_coding	NLRP7	HGNC	protein_coding	OTTHUMT00000451396.1	65	0.00	0	-	NM_139176		55450858	55450859	-1	no_errors	ENST00000446217	ensembl	human	known	69_37n	frame_shift_ins	30	59.46	44	INS	0.000:0.000	T
NPEPPS	9520	genome.wustl.edu	37	17	45669359	45669359	+	Missense_Mutation	SNP	T	T	G	rs200616431		TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr17:45669359T>G	ENST00000322157.4	+	11	1535	c.1298T>G	c.(1297-1299)tTt>tGt	p.F433C	NPEPPS_ENST00000544660.1_Missense_Mutation_p.F353C|NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000530173.1_Missense_Mutation_p.F429C	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	433					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.F433C(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						GATGAGATATTTGATGCTATA	0.383																																						dbGAP											1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											123.0	78.0	93.0					17																	45669359		2020	4149	6169	-	-	-	SO:0001583	missense	0			Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"""puromycin-sensitive aminopeptidase"", ""metalloproteinase MP100"""	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.1298T>G	17.37:g.45669359T>G	ENSP00000320324:p.Phe433Cys		B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.F433C	ENST00000322157.4	37	c.1298	CCDS45721.1	17	.	.	.	.	.	.	.	.	.	.	T	24.3	4.519381	0.85495	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000539572;ENST00000544660;ENST00000527964;ENST00000527360	T;T;T;T;T	0.09911	2.93;2.93;2.93;2.93;2.93	5.51	5.51	0.81932	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.54532	0.1864	H	0.99435	4.565	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.76427	-0.2963	10	0.87932	D	0	.	15.6257	0.76855	0.0:0.0:0.0:1.0	.	433;429;433	A6NEC2;E9PLK3;P55786	PSAL_HUMAN;.;PSA_HUMAN	C	429;433;420;353;116;130	ENSP00000433287:F429C;ENSP00000320324:F433C;ENSP00000442461:F353C;ENSP00000435639:F116C;ENSP00000435966:F130C	ENSP00000320324:F433C	F	+	2	0	NPEPPS	43024358	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.850000	0.86915	2.099000	0.63709	0.528000	0.53228	TTT	NPEPPS	-	pfam_Peptidase_M1_N	ENSG00000141279		0.383	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPEPPS	HGNC	protein_coding	OTTHUMT00000384269.1	69	0.00	0	T	NM_006310		45669359	45669359	+1	no_errors	ENST00000322157	ensembl	human	known	69_37n	missense	48	11.11	6	SNP	1.000	G
NRXN3	9369	genome.wustl.edu	37	14	79111725	79111725	+	5'UTR	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr14:79111725C>T	ENST00000554719.1	+	0	392				NRXN3_ENST00000335750.5_5'UTR	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3						adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TCAACGACAACGCCTGGCATG	0.532																																						dbGAP											0													36.0	30.0	32.0					14																	79111725		876	1991	2867	-	-	-	SO:0001623	5_prime_UTR_variant	0			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.-100C>T	14.37:g.79111725C>T			A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	p.R105C	ENST00000554719.1	37	c.313	CCDS9870.1	14	.	.	.	.	.	.	.	.	.	.	C	6.936	0.542503	0.13250	.	.	ENSG00000021645	ENST00000553363	.	.	.	6.17	5.29	0.74685	.	.	.	.	.	T	0.63745	0.2537	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62695	-0.6800	4	.	.	.	.	11.762	0.51910	0.0:0.8658:0.0:0.1342	.	.	.	.	C	105	.	.	R	+	1	0	NRXN3	78181478	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.003000	0.57061	1.626000	0.50381	0.655000	0.94253	CGC	NRXN3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000021645		0.532	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRXN3	HGNC	protein_coding	OTTHUMT00000413787.1	91	0.00	0	C	NM_001105250		79111725	79111725	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000553363	ensembl	human	novel	69_37n	missense	47	22.58	14	SNP	1.000	T
NRXN3	9369	genome.wustl.edu	37	14	79111725	79111725	+	5'UTR	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr14:79111725C>T	ENST00000554719.1	+	0	392				NRXN3_ENST00000335750.5_5'UTR	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3						adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TCAACGACAACGCCTGGCATG	0.532																																						dbGAP											0													36.0	30.0	32.0					14																	79111725		876	1991	2867	-	-	-	SO:0001623	5_prime_UTR_variant	0			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.-100C>T	14.37:g.79111725C>T			A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	p.R105C	ENST00000554719.1	37	c.313	CCDS9870.1	14	.	.	.	.	.	.	.	.	.	.	C	6.936	0.542503	0.13250	.	.	ENSG00000021645	ENST00000553363	.	.	.	6.17	5.29	0.74685	.	.	.	.	.	T	0.63745	0.2537	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62695	-0.6800	4	.	.	.	.	11.762	0.51910	0.0:0.8658:0.0:0.1342	.	.	.	.	C	105	.	.	R	+	1	0	NRXN3	78181478	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.003000	0.57061	1.626000	0.50381	0.655000	0.94253	CGC	NRXN3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000021645		0.532	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRXN3	HGNC	protein_coding	OTTHUMT00000413787.1	68	0.00	0	C	NM_001105250		79111725	79111725	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000553363	ensembl	human	novel	69_37n	missense	47	22.58	14	SNP	1.000	T
ORC3	23595	genome.wustl.edu	37	6	88313147	88313147	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr6:88313147G>A	ENST00000392844.3	+	4	271	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	ORC3_ENST00000417380.2_Missense_Mutation_p.E22K|ORC3_ENST00000546266.1_5'UTR|ORC3_ENST00000257789.4_Missense_Mutation_p.E75K	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	75					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						CAATCTGATTGAATTTCTGCA	0.323																																						dbGAP											0													63.0	63.0	63.0					6																	88313147		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"""origin recognition complex, subunit 3 (yeast homolog)-like"", ""origin recognition complex, subunit 3-like (yeast)"", ""origin recognition complex, subunit 3 honolog (yeast)"""	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.223G>A	6.37:g.88313147G>A	ENSP00000376586:p.Glu75Lys		A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Missense_Mutation	SNP	pfam_ORC3	p.E75K	ENST00000392844.3	37	c.223	CCDS43486.1	6	.	.	.	.	.	.	.	.	.	.	G	8.370	0.835180	0.16820	.	.	ENSG00000135336	ENST00000392844;ENST00000257789;ENST00000417380	T;T;T	0.13657	2.57;2.57;2.57	5.66	4.79	0.61399	.	0.463597	0.24820	N	0.035331	T	0.04272	0.0118	L	0.41961	1.31	0.80722	D	1	B;B;B;B;B	0.10296	0.001;0.003;0.001;0.0;0.0	B;B;B;B;B	0.17098	0.01;0.017;0.006;0.006;0.004	T	0.15521	-1.0434	10	0.09084	T	0.74	15.991	11.3586	0.49630	0.1572:0.0:0.8428:0.0	.	75;75;75;75;75	B7ZAI3;B7Z8A5;B4E014;Q9UBD5;Q9UBD5-2	.;.;.;ORC3_HUMAN;.	K	75;75;22	ENSP00000376586:E75K;ENSP00000257789:E75K;ENSP00000390176:E22K	ENSP00000257789:E75K	E	+	1	0	ORC3	88369866	1.000000	0.71417	0.991000	0.47740	0.074000	0.17049	1.921000	0.40035	1.404000	0.46819	0.585000	0.79938	GAA	ORC3	-	pfam_ORC3	ENSG00000135336		0.323	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ORC3	HGNC	protein_coding	OTTHUMT00000041452.2	147	0.00	0	G			88313147	88313147	+1	no_errors	ENST00000257789	ensembl	human	known	69_37n	missense	67	36.19	38	SNP	0.997	A
ORC3	23595	genome.wustl.edu	37	6	88313147	88313147	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr6:88313147G>A	ENST00000392844.3	+	4	271	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	ORC3_ENST00000417380.2_Missense_Mutation_p.E22K|ORC3_ENST00000546266.1_5'UTR|ORC3_ENST00000257789.4_Missense_Mutation_p.E75K	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	75					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						CAATCTGATTGAATTTCTGCA	0.323																																						dbGAP											0													63.0	63.0	63.0					6																	88313147		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"""origin recognition complex, subunit 3 (yeast homolog)-like"", ""origin recognition complex, subunit 3-like (yeast)"", ""origin recognition complex, subunit 3 honolog (yeast)"""	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.223G>A	6.37:g.88313147G>A	ENSP00000376586:p.Glu75Lys		A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Missense_Mutation	SNP	pfam_ORC3	p.E75K	ENST00000392844.3	37	c.223	CCDS43486.1	6	.	.	.	.	.	.	.	.	.	.	G	8.370	0.835180	0.16820	.	.	ENSG00000135336	ENST00000392844;ENST00000257789;ENST00000417380	T;T;T	0.13657	2.57;2.57;2.57	5.66	4.79	0.61399	.	0.463597	0.24820	N	0.035331	T	0.04272	0.0118	L	0.41961	1.31	0.80722	D	1	B;B;B;B;B	0.10296	0.001;0.003;0.001;0.0;0.0	B;B;B;B;B	0.17098	0.01;0.017;0.006;0.006;0.004	T	0.15521	-1.0434	10	0.09084	T	0.74	15.991	11.3586	0.49630	0.1572:0.0:0.8428:0.0	.	75;75;75;75;75	B7ZAI3;B7Z8A5;B4E014;Q9UBD5;Q9UBD5-2	.;.;.;ORC3_HUMAN;.	K	75;75;22	ENSP00000376586:E75K;ENSP00000257789:E75K;ENSP00000390176:E22K	ENSP00000257789:E75K	E	+	1	0	ORC3	88369866	1.000000	0.71417	0.991000	0.47740	0.074000	0.17049	1.921000	0.40035	1.404000	0.46819	0.585000	0.79938	GAA	ORC3	-	pfam_ORC3	ENSG00000135336		0.323	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ORC3	HGNC	protein_coding	OTTHUMT00000041452.2	69	0.00	0	G			88313147	88313147	+1	no_errors	ENST00000257789	ensembl	human	known	69_37n	missense	67	36.19	38	SNP	0.997	A
PDK2	5164	genome.wustl.edu	37	17	48174889	48174889	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr17:48174889G>A	ENST00000503176.1	+	2	382	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	PDK2_ENST00000007708.3_Missense_Mutation_p.R10Q	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	74					cellular metabolic process (GO:0044237)|cellular response to nutrient (GO:0031670)|cellular response to reactive oxygen species (GO:0034614)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of gluconeogenesis (GO:0006111)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						CTTCCCGACCGAGTGCTGAGC	0.612									Autosomal Dominant Polycystic Kidney Disease																													dbGAP											0													90.0	74.0	80.0					17																	48174889		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	ADPKD	L42451	CCDS11559.1, CCDS56039.1	17q21.33	2012-07-18	2005-11-16		ENSG00000005882	ENSG00000005882			8810	protein-coding gene	gene with protein product		602525	"""pyruvate dehydrogenase kinase, isoenzyme 2"""			7499431	Standard	NM_001199898		Approved	PDHK2	uc002iqc.3	Q15119	OTTHUMG00000161948	ENST00000503176.1:c.221G>A	17.37:g.48174889G>A	ENSP00000420927:p.Arg74Gln		A8K3A7|B3KNW0|Q6P515|Q9BS05	Missense_Mutation	SNP	pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core	p.R74Q	ENST00000503176.1	37	c.221	CCDS11559.1	17	.	.	.	.	.	.	.	.	.	.	G	13.43	2.235958	0.39498	.	.	ENSG00000005882	ENST00000007708;ENST00000508030;ENST00000503176;ENST00000503614;ENST00000505440;ENST00000512238	T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59	4.07	4.07	0.47477	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (3);	0.069784	0.53938	D	0.000049	T	0.21267	0.0512	L	0.33245	0.995	0.51012	D	0.999902	B	0.16166	0.016	B	0.11329	0.006	T	0.04870	-1.0921	10	0.28530	T	0.3	-11.6734	9.4211	0.38553	0.1017:0.0:0.8983:0.0	.	74	Q15119	PDK2_HUMAN	Q	10;10;74;10;10;10	ENSP00000007708:R10Q;ENSP00000427682:R10Q;ENSP00000420927:R74Q;ENSP00000425265:R10Q;ENSP00000425615:R10Q;ENSP00000421178:R10Q	ENSP00000007708:R10Q	R	+	2	0	PDK2	45529888	1.000000	0.71417	0.995000	0.50966	0.669000	0.39330	4.335000	0.59298	2.292000	0.77174	0.638000	0.83543	CGA	PDK2	-	pfam_BCDHK/PDK_N,superfamily_BCDHK/PDK_N	ENSG00000005882		0.612	PDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDK2	HGNC	protein_coding	OTTHUMT00000366492.2	44	0.00	0	G	NM_002611		48174889	48174889	+1	no_errors	ENST00000503176	ensembl	human	known	69_37n	missense	12	52.00	13	SNP	1.000	A
PDK2	5164	genome.wustl.edu	37	17	48174889	48174889	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr17:48174889G>A	ENST00000503176.1	+	2	382	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	PDK2_ENST00000007708.3_Missense_Mutation_p.R10Q	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	74					cellular metabolic process (GO:0044237)|cellular response to nutrient (GO:0031670)|cellular response to reactive oxygen species (GO:0034614)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of gluconeogenesis (GO:0006111)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						CTTCCCGACCGAGTGCTGAGC	0.612									Autosomal Dominant Polycystic Kidney Disease																													dbGAP											0													90.0	74.0	80.0					17																	48174889		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	ADPKD	L42451	CCDS11559.1, CCDS56039.1	17q21.33	2012-07-18	2005-11-16		ENSG00000005882	ENSG00000005882			8810	protein-coding gene	gene with protein product		602525	"""pyruvate dehydrogenase kinase, isoenzyme 2"""			7499431	Standard	NM_001199898		Approved	PDHK2	uc002iqc.3	Q15119	OTTHUMG00000161948	ENST00000503176.1:c.221G>A	17.37:g.48174889G>A	ENSP00000420927:p.Arg74Gln		A8K3A7|B3KNW0|Q6P515|Q9BS05	Missense_Mutation	SNP	pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core	p.R74Q	ENST00000503176.1	37	c.221	CCDS11559.1	17	.	.	.	.	.	.	.	.	.	.	G	13.43	2.235958	0.39498	.	.	ENSG00000005882	ENST00000007708;ENST00000508030;ENST00000503176;ENST00000503614;ENST00000505440;ENST00000512238	T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59	4.07	4.07	0.47477	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (3);	0.069784	0.53938	D	0.000049	T	0.21267	0.0512	L	0.33245	0.995	0.51012	D	0.999902	B	0.16166	0.016	B	0.11329	0.006	T	0.04870	-1.0921	10	0.28530	T	0.3	-11.6734	9.4211	0.38553	0.1017:0.0:0.8983:0.0	.	74	Q15119	PDK2_HUMAN	Q	10;10;74;10;10;10	ENSP00000007708:R10Q;ENSP00000427682:R10Q;ENSP00000420927:R74Q;ENSP00000425265:R10Q;ENSP00000425615:R10Q;ENSP00000421178:R10Q	ENSP00000007708:R10Q	R	+	2	0	PDK2	45529888	1.000000	0.71417	0.995000	0.50966	0.669000	0.39330	4.335000	0.59298	2.292000	0.77174	0.638000	0.83543	CGA	PDK2	-	pfam_BCDHK/PDK_N,superfamily_BCDHK/PDK_N	ENSG00000005882		0.612	PDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDK2	HGNC	protein_coding	OTTHUMT00000366492.2	48	0.00	0	G	NM_002611		48174889	48174889	+1	no_errors	ENST00000503176	ensembl	human	known	69_37n	missense	12	52.00	13	SNP	1.000	A
PDZD7	79955	genome.wustl.edu	37	10	102783366	102783366	+	Splice_Site	SNP	C	C	G			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr10:102783366C>G	ENST00000370215.3	-	4	594	c.369G>C	c.(367-369)gaG>gaC	p.E123D	PDZD7_ENST00000470414.1_Splice_Site_p.E123D	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	123	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GGCCAGCCCGCTCTGCACCAC	0.632																																						dbGAP											0													49.0	43.0	45.0					10																	102783366		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.368-1G>C	10.37:g.102783366C>G			D5FJ77|Q8N321	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E123D	ENST00000370215.3	37	c.369	CCDS31269.1	10	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883103	0.51908	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.29917	1.55	5.05	5.05	0.67936	PDZ/DHR/GLGF (4);	0.120228	0.56097	D	0.000030	T	0.29850	0.0746	N	0.05124	-0.11	0.45979	D	0.998791	B;D	0.71674	0.044;0.998	B;D	0.77557	0.091;0.99	T	0.14615	-1.0466	10	0.33940	T	0.23	.	9.2646	0.37634	0.0:0.8379:0.0:0.1621	.	123;123	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	D	123	ENSP00000359234:E123D	ENSP00000359234:E123D	E	-	3	2	PDZD7	102773356	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	2.670000	0.46833	2.337000	0.79520	0.561000	0.74099	GAG	PDZD7	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000186862		0.632	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD7	HGNC	protein_coding	OTTHUMT00000049883.1	35	0.00	0	C	NM_024895	Missense_Mutation	102783366	102783366	-1	no_errors	ENST00000370215	ensembl	human	known	69_37n	missense	19	24.00	6	SNP	1.000	G
PDZD7	79955	genome.wustl.edu	37	10	102783366	102783366	+	Splice_Site	SNP	C	C	G			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr10:102783366C>G	ENST00000370215.3	-	4	594	c.369G>C	c.(367-369)gaG>gaC	p.E123D	PDZD7_ENST00000470414.1_Splice_Site_p.E123D	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	123	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GGCCAGCCCGCTCTGCACCAC	0.632																																						dbGAP											0													49.0	43.0	45.0					10																	102783366		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.368-1G>C	10.37:g.102783366C>G			D5FJ77|Q8N321	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E123D	ENST00000370215.3	37	c.369	CCDS31269.1	10	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883103	0.51908	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.29917	1.55	5.05	5.05	0.67936	PDZ/DHR/GLGF (4);	0.120228	0.56097	D	0.000030	T	0.29850	0.0746	N	0.05124	-0.11	0.45979	D	0.998791	B;D	0.71674	0.044;0.998	B;D	0.77557	0.091;0.99	T	0.14615	-1.0466	10	0.33940	T	0.23	.	9.2646	0.37634	0.0:0.8379:0.0:0.1621	.	123;123	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	D	123	ENSP00000359234:E123D	ENSP00000359234:E123D	E	-	3	2	PDZD7	102773356	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	2.670000	0.46833	2.337000	0.79520	0.561000	0.74099	GAG	PDZD7	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000186862		0.632	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD7	HGNC	protein_coding	OTTHUMT00000049883.1	59	0.00	0	C	NM_024895	Missense_Mutation	102783366	102783366	-1	no_errors	ENST00000370215	ensembl	human	known	69_37n	missense	19	24.00	6	SNP	1.000	G
PELP1	27043	genome.wustl.edu	37	17	4594696	4594696	+	Silent	SNP	T	T	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr17:4594696T>A	ENST00000574876.1	-	2	308	c.291A>T	c.(289-291)gcA>gcT	p.A97A	PELP1_ENST00000436683.2_5'UTR|PELP1_ENST00000570823.1_5'UTR|PELP1_ENST00000301396.4_Silent_p.A97A|AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000572293.1_Silent_p.A147A|PELP1_ENST00000269230.7_Silent_p.A97A			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	97					cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						AACTGAGACGTGCATTACTGA	0.448																																						dbGAP											0													112.0	107.0	109.0					17																	4594696		1903	4110	6013	-	-	-	SO:0001819	synonymous_variant	0				CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"""proline, glutamic acid and leucine rich protein 1"""			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.291A>T	17.37:g.4594696T>A			O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.T74S	ENST00000574876.1	37	c.220	CCDS58503.1	17																																																																																			PELP1	-	NULL	ENSG00000141456		0.448	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PELP1	HGNC	protein_coding	OTTHUMT00000439140.2	190	0.00	0	T	NM_014389		4594696	4594696	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000570571	ensembl	human	novel	69_37n	missense	56	59.42	82	SNP	0.955	A
PELP1	27043	genome.wustl.edu	37	17	4594696	4594696	+	Silent	SNP	T	T	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr17:4594696T>A	ENST00000574876.1	-	2	308	c.291A>T	c.(289-291)gcA>gcT	p.A97A	PELP1_ENST00000436683.2_5'UTR|PELP1_ENST00000570823.1_5'UTR|PELP1_ENST00000301396.4_Silent_p.A97A|AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000572293.1_Silent_p.A147A|PELP1_ENST00000269230.7_Silent_p.A97A			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	97					cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						AACTGAGACGTGCATTACTGA	0.448																																						dbGAP											0													112.0	107.0	109.0					17																	4594696		1903	4110	6013	-	-	-	SO:0001819	synonymous_variant	0				CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"""proline, glutamic acid and leucine rich protein 1"""			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.291A>T	17.37:g.4594696T>A			O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.T74S	ENST00000574876.1	37	c.220	CCDS58503.1	17																																																																																			PELP1	-	NULL	ENSG00000141456		0.448	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PELP1	HGNC	protein_coding	OTTHUMT00000439140.2	244	0.00	0	T	NM_014389		4594696	4594696	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000570571	ensembl	human	novel	69_37n	missense	56	59.42	82	SNP	0.955	A
PI4K2A	55361	genome.wustl.edu	37	10	99410715	99410715	+	Silent	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr10:99410715C>T	ENST00000370631.3	+	2	510	c.453C>T	c.(451-453)ttC>ttT	p.F151F	PI4K2A_ENST00000555577.1_Silent_p.F121F|PI4K2A_ENST00000370649.3_Silent_p.F121F	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	151	PI3K/PI4K.				basophil degranulation (GO:0002561)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endosome (GO:0005768)|exocytic vesicle (GO:0070382)|Golgi apparatus (GO:0005794)|growing cell tip (GO:0035838)|host cell presynaptic membrane (GO:0044231)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|AP-3 adaptor complex binding (GO:0035651)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		TTGCTGTCTTCAAACCCAAGA	0.478																																						dbGAP											0													78.0	73.0	75.0					10																	99410715		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF070611	CCDS7469.1	10q24	2011-02-09			ENSG00000155252	ENSG00000155252			30031	protein-coding gene	gene with protein product		609763				11244087, 11279162	Standard	NM_018425		Approved	PI4KII, DKFZP761G1923, PIK42A	uc001kog.1	Q9BTU6	OTTHUMG00000018863	ENST00000370631.3:c.453C>T	10.37:g.99410715C>T			D3DR59|Q9NSG8	Silent	SNP	pfam_PI3/4_kinase_cat_dom	p.F151	ENST00000370631.3	37	c.453	CCDS7469.1	10																																																																																			PI4K2A	-	pfam_PI3/4_kinase_cat_dom	ENSG00000155252		0.478	PI4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PI4K2A	HGNC	protein_coding	OTTHUMT00000049735.1	101	0.00	0	C	NM_018425		99410715	99410715	+1	no_errors	ENST00000370631	ensembl	human	known	69_37n	silent	57	32.94	28	SNP	1.000	T
PI4K2A	55361	genome.wustl.edu	37	10	99410715	99410715	+	Silent	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr10:99410715C>T	ENST00000370631.3	+	2	510	c.453C>T	c.(451-453)ttC>ttT	p.F151F	PI4K2A_ENST00000555577.1_Silent_p.F121F|PI4K2A_ENST00000370649.3_Silent_p.F121F	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	151	PI3K/PI4K.				basophil degranulation (GO:0002561)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endosome (GO:0005768)|exocytic vesicle (GO:0070382)|Golgi apparatus (GO:0005794)|growing cell tip (GO:0035838)|host cell presynaptic membrane (GO:0044231)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|AP-3 adaptor complex binding (GO:0035651)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		TTGCTGTCTTCAAACCCAAGA	0.478																																						dbGAP											0													78.0	73.0	75.0					10																	99410715		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF070611	CCDS7469.1	10q24	2011-02-09			ENSG00000155252	ENSG00000155252			30031	protein-coding gene	gene with protein product		609763				11244087, 11279162	Standard	NM_018425		Approved	PI4KII, DKFZP761G1923, PIK42A	uc001kog.1	Q9BTU6	OTTHUMG00000018863	ENST00000370631.3:c.453C>T	10.37:g.99410715C>T			D3DR59|Q9NSG8	Silent	SNP	pfam_PI3/4_kinase_cat_dom	p.F151	ENST00000370631.3	37	c.453	CCDS7469.1	10																																																																																			PI4K2A	-	pfam_PI3/4_kinase_cat_dom	ENSG00000155252		0.478	PI4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PI4K2A	HGNC	protein_coding	OTTHUMT00000049735.1	85	0.00	0	C	NM_018425		99410715	99410715	+1	no_errors	ENST00000370631	ensembl	human	known	69_37n	silent	57	32.94	28	SNP	1.000	T
PIK3R5	23533	genome.wustl.edu	37	17	8792106	8792107	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr17:8792106_8792107insG	ENST00000447110.1	-	10	1121_1122	c.997_998insC	c.(997-999)gacfs	p.D333fs	PIK3R5_ENST00000581552.1_Frame_Shift_Ins_p.D333fs|PIK3R5_ENST00000584803.1_Frame_Shift_Ins_p.D333fs	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	333				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121). {ECO:0000305}.	blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						AGTTTCCAAGtcctcctccacc	0.584																																					NSCLC(18;589 615 7696 20311 50332)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.997_998insC	17.37:g.8792106_8792107insG	ENSP00000392812:p.Asp333fs		B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Frame_Shift_Ins	INS	pfam_PI3K_1B_gamma_p101_su	p.D333fs	ENST00000447110.1	37	c.998_997	CCDS11147.1	17																																																																																			PIK3R5	-	pfam_PI3K_1B_gamma_p101_su	ENSG00000141506		0.584	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PIK3R5	HGNC	protein_coding	OTTHUMT00000227003.2	34	0.00	0	-	NM_014308		8792106	8792107	-1	no_errors	ENST00000447110	ensembl	human	known	69_37n	frame_shift_ins	5	37.50	3	INS	0.958:0.524	G
PIK3R5	23533	genome.wustl.edu	37	17	8792106	8792107	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr17:8792106_8792107insG	ENST00000447110.1	-	10	1121_1122	c.997_998insC	c.(997-999)gacfs	p.D333fs	PIK3R5_ENST00000581552.1_Frame_Shift_Ins_p.D333fs|PIK3R5_ENST00000584803.1_Frame_Shift_Ins_p.D333fs	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	333				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121). {ECO:0000305}.	blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						AGTTTCCAAGtcctcctccacc	0.584																																					NSCLC(18;589 615 7696 20311 50332)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.997_998insC	17.37:g.8792106_8792107insG	ENSP00000392812:p.Asp333fs		B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Frame_Shift_Ins	INS	pfam_PI3K_1B_gamma_p101_su	p.D333fs	ENST00000447110.1	37	c.998_997	CCDS11147.1	17																																																																																			PIK3R5	-	pfam_PI3K_1B_gamma_p101_su	ENSG00000141506		0.584	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PIK3R5	HGNC	protein_coding	OTTHUMT00000227003.2	16	0.00	0	-	NM_014308		8792106	8792107	-1	no_errors	ENST00000447110	ensembl	human	known	69_37n	frame_shift_ins	5	37.50	3	INS	0.958:0.524	G
POLN	353497	genome.wustl.edu	37	4	2172878	2172878	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr4:2172878G>A	ENST00000511885.2	-	12	1758	c.1405C>T	c.(1405-1407)Cat>Tat	p.H469Y	POLN_ENST00000382865.1_Missense_Mutation_p.H469Y|POLN_ENST00000515357.1_5'UTR			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	469					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			GCAACAAAATGAGCTTCTTGC	0.328								DNA polymerases (catalytic subunits)																														dbGAP											0													101.0	101.0	101.0					4																	2172878		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"""DNA polymerases"""	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.1405C>T	4.37:g.2172878G>A	ENSP00000435506:p.His469Tyr		A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA_polymerase_A	p.H469Y	ENST00000511885.2	37	c.1405	CCDS3360.1	4	.	.	.	.	.	.	.	.	.	.	G	10.19	1.282018	0.23392	.	.	ENSG00000130997	ENST00000511885;ENST00000382865;ENST00000253313;ENST00000382857	T;T	0.09163	3.01;3.01	5.53	5.53	0.82687	DNA-directed DNA polymerase, family A, palm domain (1);	0.000000	0.85682	D	0.000000	T	0.16385	0.0394	N	0.25890	0.77	0.45806	D	0.998683	D;P;B	0.56968	0.978;0.911;0.041	P;B;B	0.61477	0.889;0.288;0.262	T	0.06607	-1.0817	10	0.11485	T	0.65	-21.6657	14.8344	0.70172	0.0:0.0:1.0:0.0	.	469;59;469	E7ERY2;C9JDP8;Q7Z5Q5	.;.;DPOLN_HUMAN	Y	469;469;160;59	ENSP00000435506:H469Y;ENSP00000372316:H469Y	ENSP00000253313:H160Y	H	-	1	0	POLN	2142676	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.941000	0.63540	2.882000	0.98803	0.655000	0.94253	CAT	POLN	-	pfam_DNA-dir_DNA_pol_A_palm_dom	ENSG00000130997		0.328	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLN	HGNC	protein_coding	OTTHUMT00000205684.2	190	0.00	0	G	NM_181808		2172878	2172878	-1	no_errors	ENST00000382865	ensembl	human	known	69_37n	missense	100	34.21	52	SNP	1.000	A
POLN	353497	genome.wustl.edu	37	4	2172878	2172878	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr4:2172878G>A	ENST00000511885.2	-	12	1758	c.1405C>T	c.(1405-1407)Cat>Tat	p.H469Y	POLN_ENST00000382865.1_Missense_Mutation_p.H469Y|POLN_ENST00000515357.1_5'UTR			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	469					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			GCAACAAAATGAGCTTCTTGC	0.328								DNA polymerases (catalytic subunits)																														dbGAP											0													101.0	101.0	101.0					4																	2172878		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"""DNA polymerases"""	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.1405C>T	4.37:g.2172878G>A	ENSP00000435506:p.His469Tyr		A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA_polymerase_A	p.H469Y	ENST00000511885.2	37	c.1405	CCDS3360.1	4	.	.	.	.	.	.	.	.	.	.	G	10.19	1.282018	0.23392	.	.	ENSG00000130997	ENST00000511885;ENST00000382865;ENST00000253313;ENST00000382857	T;T	0.09163	3.01;3.01	5.53	5.53	0.82687	DNA-directed DNA polymerase, family A, palm domain (1);	0.000000	0.85682	D	0.000000	T	0.16385	0.0394	N	0.25890	0.77	0.45806	D	0.998683	D;P;B	0.56968	0.978;0.911;0.041	P;B;B	0.61477	0.889;0.288;0.262	T	0.06607	-1.0817	10	0.11485	T	0.65	-21.6657	14.8344	0.70172	0.0:0.0:1.0:0.0	.	469;59;469	E7ERY2;C9JDP8;Q7Z5Q5	.;.;DPOLN_HUMAN	Y	469;469;160;59	ENSP00000435506:H469Y;ENSP00000372316:H469Y	ENSP00000253313:H160Y	H	-	1	0	POLN	2142676	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.941000	0.63540	2.882000	0.98803	0.655000	0.94253	CAT	POLN	-	pfam_DNA-dir_DNA_pol_A_palm_dom	ENSG00000130997		0.328	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLN	HGNC	protein_coding	OTTHUMT00000205684.2	92	0.00	0	G	NM_181808		2172878	2172878	-1	no_errors	ENST00000382865	ensembl	human	known	69_37n	missense	100	34.21	52	SNP	1.000	A
PPP1R21	129285	genome.wustl.edu	37	2	48722823	48722823	+	Silent	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr2:48722823C>T	ENST00000294952.8	+	16	1762	c.1605C>T	c.(1603-1605)ctC>ctT	p.L535L	PPP1R21_ENST00000449090.2_Intron|PPP1R21_ENST00000281394.4_Silent_p.L535L	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	535						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						CATAGCCCCTCTTGGAGTCTG	0.458																																						dbGAP											0													96.0	98.0	97.0					2																	48722823		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.1605C>T	2.37:g.48722823C>T			B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Silent	SNP	pfam_KLRAQ/TTKRSYEDQ_C,pfam_Unchr_KLRAQ/TTKRSYEDQ_N,superfamily_Ferritin/RR-like	p.L535	ENST00000294952.8	37	c.1605	CCDS46278.1	2																																																																																			PPP1R21	-	pfam_KLRAQ/TTKRSYEDQ_C	ENSG00000162869		0.458	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R21	HGNC	protein_coding	OTTHUMT00000251238.4	134	0.00	0	C	NM_152994		48722823	48722823	+1	no_errors	ENST00000294952	ensembl	human	known	69_37n	silent	53	40.45	36	SNP	0.001	T
PPP1R21	129285	genome.wustl.edu	37	2	48722823	48722823	+	Silent	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr2:48722823C>T	ENST00000294952.8	+	16	1762	c.1605C>T	c.(1603-1605)ctC>ctT	p.L535L	PPP1R21_ENST00000449090.2_Intron|PPP1R21_ENST00000281394.4_Silent_p.L535L	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	535						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						CATAGCCCCTCTTGGAGTCTG	0.458																																						dbGAP											0													96.0	98.0	97.0					2																	48722823		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.1605C>T	2.37:g.48722823C>T			B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Silent	SNP	pfam_KLRAQ/TTKRSYEDQ_C,pfam_Unchr_KLRAQ/TTKRSYEDQ_N,superfamily_Ferritin/RR-like	p.L535	ENST00000294952.8	37	c.1605	CCDS46278.1	2																																																																																			PPP1R21	-	pfam_KLRAQ/TTKRSYEDQ_C	ENSG00000162869		0.458	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R21	HGNC	protein_coding	OTTHUMT00000251238.4	71	0.00	0	C	NM_152994		48722823	48722823	+1	no_errors	ENST00000294952	ensembl	human	known	69_37n	silent	53	40.45	36	SNP	0.001	T
PROX1	5629	genome.wustl.edu	37	1	214171121	214171121	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr1:214171121G>A	ENST00000366958.4	+	2	1851	c.1243G>A	c.(1243-1245)Gtc>Atc	p.V415I	PROX1_ENST00000435016.1_Missense_Mutation_p.V415I|PROX1_ENST00000261454.4_Missense_Mutation_p.V415I|PROX1_ENST00000498508.2_Missense_Mutation_p.V415I	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	415					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CTTTGGCGACGTCATCATTCC	0.567																																						dbGAP											0													104.0	104.0	104.0					1																	214171121		2203	4300	6503	-	-	-	SO:0001583	missense	0			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1243G>A	1.37:g.214171121G>A	ENSP00000355925:p.Val415Ile		A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	pfam_Prox1,superfamily_Homeodomain-like	p.V415I	ENST00000366958.4	37	c.1243	CCDS31021.1	1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.653966	0.67472	.	.	ENSG00000117707	ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.50813	0.75;0.73;0.75;0.75	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.66297	0.2775	M	0.63428	1.95	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.60214	-0.7307	10	0.24483	T	0.36	-5.2736	19.2456	0.93901	0.0:0.0:1.0:0.0	.	415	Q92786	PROX1_HUMAN	I	415	ENSP00000420283:V415I;ENSP00000355925:V415I;ENSP00000400694:V415I;ENSP00000261454:V415I	ENSP00000261454:V415I	V	+	1	0	PROX1	212237744	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.624000	0.98398	2.548000	0.85928	0.591000	0.81541	GTC	PROX1	-	pfam_Prox1	ENSG00000117707		0.567	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROX1	HGNC	protein_coding	OTTHUMT00000089727.6	285	0.00	0	G	NM_002763		214171121	214171121	+1	no_errors	ENST00000261454	ensembl	human	known	69_37n	missense	377	17.61	81	SNP	1.000	A
PROX1	5629	genome.wustl.edu	37	1	214171121	214171121	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr1:214171121G>A	ENST00000366958.4	+	2	1851	c.1243G>A	c.(1243-1245)Gtc>Atc	p.V415I	PROX1_ENST00000435016.1_Missense_Mutation_p.V415I|PROX1_ENST00000261454.4_Missense_Mutation_p.V415I|PROX1_ENST00000498508.2_Missense_Mutation_p.V415I	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	415					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CTTTGGCGACGTCATCATTCC	0.567																																						dbGAP											0													104.0	104.0	104.0					1																	214171121		2203	4300	6503	-	-	-	SO:0001583	missense	0			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1243G>A	1.37:g.214171121G>A	ENSP00000355925:p.Val415Ile		A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	pfam_Prox1,superfamily_Homeodomain-like	p.V415I	ENST00000366958.4	37	c.1243	CCDS31021.1	1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.653966	0.67472	.	.	ENSG00000117707	ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.50813	0.75;0.73;0.75;0.75	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.66297	0.2775	M	0.63428	1.95	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.60214	-0.7307	10	0.24483	T	0.36	-5.2736	19.2456	0.93901	0.0:0.0:1.0:0.0	.	415	Q92786	PROX1_HUMAN	I	415	ENSP00000420283:V415I;ENSP00000355925:V415I;ENSP00000400694:V415I;ENSP00000261454:V415I	ENSP00000261454:V415I	V	+	1	0	PROX1	212237744	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.624000	0.98398	2.548000	0.85928	0.591000	0.81541	GTC	PROX1	-	pfam_Prox1	ENSG00000117707		0.567	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROX1	HGNC	protein_coding	OTTHUMT00000089727.6	597	0.00	0	G	NM_002763		214171121	214171121	+1	no_errors	ENST00000261454	ensembl	human	known	69_37n	missense	377	17.61	81	SNP	1.000	A
PRSS55	203074	genome.wustl.edu	37	8	10386965	10386966	+	Intron	INS	-	-	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr8:10386965_10386966insT	ENST00000328655.3	+	2	194				PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Intron	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						CTCACACTGGATGCTGACTAAG	0.53																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"""Serine peptidases / Serine peptidases"""	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.155-51->T	8.37:g.10386966_10386966dupT			E5RJX5	Frame_Shift_Ins	INS	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.A16fs	ENST00000328655.3	37	c.44_45	CCDS5976.1	8																																																																																			PRSS55	-	NULL	ENSG00000184647		0.530	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS55	HGNC	protein_coding	OTTHUMT00000251493.3	115	0.00	0	-	NM_198464		10386965	10386966	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000518641	ensembl	human	known	69_37n	frame_shift_ins	41	10.87	5	INS	0.000:0.000	T
PRSS55	203074	genome.wustl.edu	37	8	10386965	10386966	+	Intron	INS	-	-	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr8:10386965_10386966insT	ENST00000328655.3	+	2	194				PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Intron	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						CTCACACTGGATGCTGACTAAG	0.53																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"""Serine peptidases / Serine peptidases"""	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.155-51->T	8.37:g.10386966_10386966dupT			E5RJX5	Frame_Shift_Ins	INS	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.A16fs	ENST00000328655.3	37	c.44_45	CCDS5976.1	8																																																																																			PRSS55	-	NULL	ENSG00000184647		0.530	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS55	HGNC	protein_coding	OTTHUMT00000251493.3	159	0.00	0	-	NM_198464		10386965	10386966	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000518641	ensembl	human	known	69_37n	frame_shift_ins	41	10.87	5	INS	0.000:0.000	T
PRSS58	136541	genome.wustl.edu	37	7	141952311	141952311	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr7:141952311C>T	ENST00000552471.1	-	4	876	c.557G>A	c.(556-558)gGa>gAa	p.G186E	PRSS58_ENST00000547058.2_Missense_Mutation_p.G186E			Q8IYP2	PRS58_HUMAN	protease, serine, 58	186	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						CTGCCTCCTTCCTGGCACAAT	0.423																																						dbGAP											0													166.0	151.0	156.0					7																	141952311		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.557G>A	7.37:g.141952311C>T	ENSP00000446916:p.Gly186Glu		B3KVJ6|D3DXD2	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.G186E	ENST00000552471.1	37	c.557	CCDS5871.1	7	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896252	0.52121	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	D;D	0.84298	-1.83;-1.83	4.35	3.47	0.39725	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.83866	0.5347	M	0.71206	2.165	0.43756	D	0.996266	P	0.40398	0.716	B	0.42245	0.381	D	0.84460	0.0593	9	0.87932	D	0	.	8.3829	0.32483	0.0:0.8949:0.0:0.1051	.	186	Q8IYP2	PRS58_HUMAN	E	186	ENSP00000447588:G186E;ENSP00000446916:G186E	ENSP00000307206:G186E	G	-	2	0	PRSS58	141598789	1.000000	0.71417	0.993000	0.49108	0.941000	0.58515	3.417000	0.52714	1.420000	0.47138	-0.140000	0.14226	GGA	PRSS58	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000258223		0.423	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRSS58	HGNC	protein_coding	OTTHUMT00000351328.2	251	0.00	0	C	NM_001001317		141952311	141952311	-1	no_errors	ENST00000547058	ensembl	human	known	69_37n	missense	85	32.00	40	SNP	1.000	T
PRSS58	136541	genome.wustl.edu	37	7	141952311	141952311	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr7:141952311C>T	ENST00000552471.1	-	4	876	c.557G>A	c.(556-558)gGa>gAa	p.G186E	PRSS58_ENST00000547058.2_Missense_Mutation_p.G186E			Q8IYP2	PRS58_HUMAN	protease, serine, 58	186	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						CTGCCTCCTTCCTGGCACAAT	0.423																																						dbGAP											0													166.0	151.0	156.0					7																	141952311		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.557G>A	7.37:g.141952311C>T	ENSP00000446916:p.Gly186Glu		B3KVJ6|D3DXD2	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.G186E	ENST00000552471.1	37	c.557	CCDS5871.1	7	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896252	0.52121	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	D;D	0.84298	-1.83;-1.83	4.35	3.47	0.39725	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.83866	0.5347	M	0.71206	2.165	0.43756	D	0.996266	P	0.40398	0.716	B	0.42245	0.381	D	0.84460	0.0593	9	0.87932	D	0	.	8.3829	0.32483	0.0:0.8949:0.0:0.1051	.	186	Q8IYP2	PRS58_HUMAN	E	186	ENSP00000447588:G186E;ENSP00000446916:G186E	ENSP00000307206:G186E	G	-	2	0	PRSS58	141598789	1.000000	0.71417	0.993000	0.49108	0.941000	0.58515	3.417000	0.52714	1.420000	0.47138	-0.140000	0.14226	GGA	PRSS58	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000258223		0.423	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRSS58	HGNC	protein_coding	OTTHUMT00000351328.2	352	0.00	0	C	NM_001001317		141952311	141952311	-1	no_errors	ENST00000547058	ensembl	human	known	69_37n	missense	85	32.00	40	SNP	1.000	T
RABL2B	11158	genome.wustl.edu	37	22	51207261	51207261	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr22:51207261C>G	ENST00000395598.3	-	9	841	c.630G>C	c.(628-630)caG>caC	p.Q210H	RABL2B_ENST00000395595.3_Missense_Mutation_p.Q211H|RABL2B_ENST00000395591.1_Missense_Mutation_p.Q147H|RABL2B_ENST00000465063.1_5'UTR|RABL2B_ENST00000354869.3_Missense_Mutation_p.Q211H|RABL2B_ENST00000395593.3_Missense_Mutation_p.Q220H|RABL2B_ENST00000435118.1_Missense_Mutation_p.Q210H	NM_001003789.1|NM_001130919.1|NM_001130922.1|NM_007081.2	NP_001003789.1|NP_001124391.1|NP_001124394.1|NP_009012.1	Q9UNT1	RBL2B_HUMAN	RAB, member of RAS oncogene family-like 2B	210					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(1)	1		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.0539)|LUAD - Lung adenocarcinoma(64;0.247)		TGCTCTGTTCCTGGTCTGGCA	0.597																																					GBM(148;358 1894 4987 13698 40400)	dbGAP											0													61.0	53.0	55.0					22																	51207261		2202	4297	6499	-	-	-	SO:0001583	missense	0				CCDS14102.1, CCDS33683.1, CCDS46738.1	22q13.33	2014-05-09			ENSG00000079974	ENSG00000079974		"""RAB, member RAS oncogene"""	9800	protein-coding gene	gene with protein product		605413				10444334	Standard	NM_001130919		Approved		uc011asg.1	Q9UNT1	OTTHUMG00000150156	ENST00000395598.3:c.630G>C	22.37:g.51207261C>G	ENSP00000378962:p.Gln210His		Q5TZT8|Q96C33	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.Q211H	ENST00000395598.3	37	c.633	CCDS14102.1	22	.	.	.	.	.	.	.	.	.	.	C	4.674	0.125346	0.08931	.	.	ENSG00000079974	ENST00000435118;ENST00000354869;ENST00000395593;ENST00000395598;ENST00000395591;ENST00000395595	T;T;T;T;T;T	0.77750	-0.74;-0.74;-0.87;-0.74;-1.12;-0.74	3.92	0.521	0.17046	.	0.573103	0.19581	N	0.110850	T	0.63628	0.2527	L	0.40543	1.245	0.22424	N	0.999119	P;B;B	0.36249	0.545;0.214;0.32	B;B;B	0.34931	0.192;0.094;0.192	T	0.53655	-0.8408	10	0.45353	T	0.12	1.1876	6.0404	0.19730	0.0:0.3738:0.0:0.6262	.	220;210;211	Q9UNT1-3;Q9UNT1;Q9UNT1-2	.;RBL2B_HUMAN;.	H	210;211;220;210;147;211	ENSP00000401906:Q210H;ENSP00000346940:Q211H;ENSP00000378958:Q220H;ENSP00000378962:Q210H;ENSP00000378956:Q147H;ENSP00000378960:Q211H	ENSP00000346940:Q211H	Q	-	3	2	RABL2B	49554127	0.009000	0.17119	0.057000	0.19452	0.022000	0.10575	0.156000	0.16382	-0.060000	0.13132	-0.482000	0.04802	CAG	RABL2B	-	smart_Ran_GTPase	ENSG00000079974		0.597	RABL2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RABL2B	HGNC	protein_coding	OTTHUMT00000316606.1	67	0.00	0	C	NM_001003789		51207261	51207261	-1	no_errors	ENST00000354869	ensembl	human	known	69_37n	missense	53	18.46	12	SNP	0.770	G
RABL2B	11158	genome.wustl.edu	37	22	51207261	51207261	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr22:51207261C>G	ENST00000395598.3	-	9	841	c.630G>C	c.(628-630)caG>caC	p.Q210H	RABL2B_ENST00000395595.3_Missense_Mutation_p.Q211H|RABL2B_ENST00000395591.1_Missense_Mutation_p.Q147H|RABL2B_ENST00000465063.1_5'UTR|RABL2B_ENST00000354869.3_Missense_Mutation_p.Q211H|RABL2B_ENST00000395593.3_Missense_Mutation_p.Q220H|RABL2B_ENST00000435118.1_Missense_Mutation_p.Q210H	NM_001003789.1|NM_001130919.1|NM_001130922.1|NM_007081.2	NP_001003789.1|NP_001124391.1|NP_001124394.1|NP_009012.1	Q9UNT1	RBL2B_HUMAN	RAB, member of RAS oncogene family-like 2B	210					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(1)	1		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.0539)|LUAD - Lung adenocarcinoma(64;0.247)		TGCTCTGTTCCTGGTCTGGCA	0.597																																					GBM(148;358 1894 4987 13698 40400)	dbGAP											0													61.0	53.0	55.0					22																	51207261		2202	4297	6499	-	-	-	SO:0001583	missense	0				CCDS14102.1, CCDS33683.1, CCDS46738.1	22q13.33	2014-05-09			ENSG00000079974	ENSG00000079974		"""RAB, member RAS oncogene"""	9800	protein-coding gene	gene with protein product		605413				10444334	Standard	NM_001130919		Approved		uc011asg.1	Q9UNT1	OTTHUMG00000150156	ENST00000395598.3:c.630G>C	22.37:g.51207261C>G	ENSP00000378962:p.Gln210His		Q5TZT8|Q96C33	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.Q211H	ENST00000395598.3	37	c.633	CCDS14102.1	22	.	.	.	.	.	.	.	.	.	.	C	4.674	0.125346	0.08931	.	.	ENSG00000079974	ENST00000435118;ENST00000354869;ENST00000395593;ENST00000395598;ENST00000395591;ENST00000395595	T;T;T;T;T;T	0.77750	-0.74;-0.74;-0.87;-0.74;-1.12;-0.74	3.92	0.521	0.17046	.	0.573103	0.19581	N	0.110850	T	0.63628	0.2527	L	0.40543	1.245	0.22424	N	0.999119	P;B;B	0.36249	0.545;0.214;0.32	B;B;B	0.34931	0.192;0.094;0.192	T	0.53655	-0.8408	10	0.45353	T	0.12	1.1876	6.0404	0.19730	0.0:0.3738:0.0:0.6262	.	220;210;211	Q9UNT1-3;Q9UNT1;Q9UNT1-2	.;RBL2B_HUMAN;.	H	210;211;220;210;147;211	ENSP00000401906:Q210H;ENSP00000346940:Q211H;ENSP00000378958:Q220H;ENSP00000378962:Q210H;ENSP00000378956:Q147H;ENSP00000378960:Q211H	ENSP00000346940:Q211H	Q	-	3	2	RABL2B	49554127	0.009000	0.17119	0.057000	0.19452	0.022000	0.10575	0.156000	0.16382	-0.060000	0.13132	-0.482000	0.04802	CAG	RABL2B	-	smart_Ran_GTPase	ENSG00000079974		0.597	RABL2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RABL2B	HGNC	protein_coding	OTTHUMT00000316606.1	74	0.00	0	C	NM_001003789		51207261	51207261	-1	no_errors	ENST00000354869	ensembl	human	known	69_37n	missense	53	18.46	12	SNP	0.770	G
RASSF5	83593	genome.wustl.edu	37	1	206730957	206730957	+	Intron	DEL	A	A	-			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr1:206730957delA	ENST00000355294.4	+	2	636				RASSF5_ENST00000304534.8_Frame_Shift_Del_p.E19fs|RASSF5_ENST00000367117.3_Intron	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5						apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein localization to nucleus (GO:1900180)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GAGGAACTGGAAGACTGCTTC	0.537																																					GBM(162;656 1984 11916 22872 31529)	dbGAP											0													100.0	94.0	96.0					1																	206730957		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			BC004270	CCDS1463.1, CCDS1464.1, CCDS30998.1	1q31	2014-04-10	2008-02-22		ENSG00000136653	ENSG00000266094			17609	protein-coding gene	gene with protein product		607020				11978988, 11965544	Standard	NM_182663		Approved	Maxp1, NORE1, RAPL	uc001hed.3	Q8WWW0	OTTHUMG00000184616	ENST00000355294.4:c.579+19335A>-	1.37:g.206730957delA			A8K1E6|Q5SY32|Q8WWV9|Q8WXF4|Q9BT99	Frame_Shift_Del	DEL	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH	p.D20fs	ENST00000355294.4	37	c.56	CCDS30998.1	1																																																																																			RASSF5	-	NULL	ENSG00000136653		0.537	RASSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF5	HGNC	protein_coding	OTTHUMT00000088469.1	31	0.00	0	A	NM_031437		206730957	206730957	+1	no_errors	ENST00000304534	ensembl	human	known	69_37n	frame_shift_del	36	21.74	10	DEL	0.992	-
RASSF5	83593	genome.wustl.edu	37	1	206730957	206730957	+	Intron	DEL	A	A	-			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr1:206730957delA	ENST00000355294.4	+	2	636				RASSF5_ENST00000304534.8_Frame_Shift_Del_p.E19fs|RASSF5_ENST00000367117.3_Intron	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5						apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein localization to nucleus (GO:1900180)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GAGGAACTGGAAGACTGCTTC	0.537																																					GBM(162;656 1984 11916 22872 31529)	dbGAP											0													100.0	94.0	96.0					1																	206730957		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			BC004270	CCDS1463.1, CCDS1464.1, CCDS30998.1	1q31	2014-04-10	2008-02-22		ENSG00000136653	ENSG00000266094			17609	protein-coding gene	gene with protein product		607020				11978988, 11965544	Standard	NM_182663		Approved	Maxp1, NORE1, RAPL	uc001hed.3	Q8WWW0	OTTHUMG00000184616	ENST00000355294.4:c.579+19335A>-	1.37:g.206730957delA			A8K1E6|Q5SY32|Q8WWV9|Q8WXF4|Q9BT99	Frame_Shift_Del	DEL	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH	p.D20fs	ENST00000355294.4	37	c.56	CCDS30998.1	1																																																																																			RASSF5	-	NULL	ENSG00000136653		0.537	RASSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF5	HGNC	protein_coding	OTTHUMT00000088469.1	18	0.00	0	A	NM_031437		206730957	206730957	+1	no_errors	ENST00000304534	ensembl	human	known	69_37n	frame_shift_del	36	21.74	10	DEL	0.992	-
RBMX	27316	genome.wustl.edu	37	X	135960146	135960147	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chrX:135960146_135960147insAA	ENST00000320676.7	-	4	469_470	c.315_316insTT	c.(313-318)cctccafs	p.P106fs	RBMX_ENST00000570135.1_Intron|SNORD61_ENST00000384252.1_RNA|RBMX_ENST00000565438.1_5'UTR|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000562646.1_Frame_Shift_Ins_p.P106fs	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	106					cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P106fs*32(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					AGACCTCTTGGAGGGCCTCTAC	0.535																																						dbGAP											1	Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)																																								-	-	-	SO:0001589	frameshift_variant	0				CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.315_316insTT	X.37:g.135960146_135960147insAA	ENSP00000359645:p.Pro106fs		B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Frame_Shift_Ins	INS	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.P105fs	ENST00000320676.7	37	c.316_315	CCDS14661.1	X																																																																																			RBMX	-	NULL	ENSG00000147274		0.535	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMX	HGNC	protein_coding	OTTHUMT00000058507.1	41	0.00	0	-	NM_002139		135960146	135960147	-1	no_errors	ENST00000320676	ensembl	human	known	69_37n	frame_shift_ins	60	14.29	10	INS	1.000:1.000	AA
RHCG	51458	genome.wustl.edu	37	15	90020416	90020416	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr15:90020416A>T	ENST00000268122.4	-	8	1202	c.1134T>A	c.(1132-1134)ttT>ttA	p.F378L	RHCG_ENST00000544600.1_Missense_Mutation_p.F378L	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	378					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					TGAAACCTTGAAAGTCAAAGG	0.557																																						dbGAP											0													93.0	94.0	93.0					15																	90020416		2200	4299	6499	-	-	-	SO:0001583	missense	0			AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"""Solute carriers"""	18140	protein-coding gene	gene with protein product		605381	"""chromosome 15 open reading frame 6"", ""Rhesus blood group, C glycoprotein"""	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.1134T>A	15.37:g.90020416A>T	ENSP00000268122:p.Phe378Leu		A8K4D4|Q6X3Y4	Missense_Mutation	SNP	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD	p.F378L	ENST00000268122.4	37	c.1134	CCDS10351.1	15	.	.	.	.	.	.	.	.	.	.	A	5.706	0.314866	0.10789	.	.	ENSG00000140519	ENST00000544600;ENST00000268122;ENST00000536247	T;T	0.23147	1.92;1.92	5.37	1.73	0.24493	Ammonium transporter AmtB-like (3);	0.233703	0.43260	N	0.000588	T	0.20700	0.0498	M	0.64676	1.99	0.43246	D	0.995162	B	0.02656	0.0	B	0.09377	0.004	T	0.06935	-1.0799	9	.	.	.	0.1091	4.3463	0.11134	0.4707:0.1768:0.3525:0.0	.	378	Q9UBD6	RHCG_HUMAN	L	378;378;369	ENSP00000438123:F378L;ENSP00000268122:F378L	.	F	-	3	2	RHCG	87821420	0.998000	0.40836	0.002000	0.10522	0.717000	0.41224	1.805000	0.38883	0.041000	0.15688	0.533000	0.62120	TTT	RHCG	-	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like	ENSG00000140519		0.557	RHCG-001	KNOWN	basic|CCDS	protein_coding	RHCG	HGNC	protein_coding	OTTHUMT00000312855.2	85	0.00	0	A	NM_016321		90020416	90020416	-1	no_errors	ENST00000268122	ensembl	human	known	69_37n	missense	28	33.33	14	SNP	0.404	T
RHCG	51458	genome.wustl.edu	37	15	90020416	90020416	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr15:90020416A>T	ENST00000268122.4	-	8	1202	c.1134T>A	c.(1132-1134)ttT>ttA	p.F378L	RHCG_ENST00000544600.1_Missense_Mutation_p.F378L	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	378					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					TGAAACCTTGAAAGTCAAAGG	0.557																																						dbGAP											0													93.0	94.0	93.0					15																	90020416		2200	4299	6499	-	-	-	SO:0001583	missense	0			AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"""Solute carriers"""	18140	protein-coding gene	gene with protein product		605381	"""chromosome 15 open reading frame 6"", ""Rhesus blood group, C glycoprotein"""	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.1134T>A	15.37:g.90020416A>T	ENSP00000268122:p.Phe378Leu		A8K4D4|Q6X3Y4	Missense_Mutation	SNP	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD	p.F378L	ENST00000268122.4	37	c.1134	CCDS10351.1	15	.	.	.	.	.	.	.	.	.	.	A	5.706	0.314866	0.10789	.	.	ENSG00000140519	ENST00000544600;ENST00000268122;ENST00000536247	T;T	0.23147	1.92;1.92	5.37	1.73	0.24493	Ammonium transporter AmtB-like (3);	0.233703	0.43260	N	0.000588	T	0.20700	0.0498	M	0.64676	1.99	0.43246	D	0.995162	B	0.02656	0.0	B	0.09377	0.004	T	0.06935	-1.0799	9	.	.	.	0.1091	4.3463	0.11134	0.4707:0.1768:0.3525:0.0	.	378	Q9UBD6	RHCG_HUMAN	L	378;378;369	ENSP00000438123:F378L;ENSP00000268122:F378L	.	F	-	3	2	RHCG	87821420	0.998000	0.40836	0.002000	0.10522	0.717000	0.41224	1.805000	0.38883	0.041000	0.15688	0.533000	0.62120	TTT	RHCG	-	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like	ENSG00000140519		0.557	RHCG-001	KNOWN	basic|CCDS	protein_coding	RHCG	HGNC	protein_coding	OTTHUMT00000312855.2	63	0.00	0	A	NM_016321		90020416	90020416	-1	no_errors	ENST00000268122	ensembl	human	known	69_37n	missense	28	33.33	14	SNP	0.404	T
RHPN2	85415	genome.wustl.edu	37	19	33470935	33470935	+	Silent	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr19:33470935G>A	ENST00000254260.3	-	15	2063	c.2028C>T	c.(2026-2028)ttC>ttT	p.F676F	RHPN2_ENST00000588683.1_5'UTR|RHPN2_ENST00000400226.4_Silent_p.F525F	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	676					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TGAGAAGGCTGAAAGGGGAGG	0.542																																						dbGAP											0													54.0	56.0	55.0					19																	33470935		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.2028C>T	19.37:g.33470935G>A			B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Silent	SNP	pfam_BRO1_dom,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,superfamily_PDZ,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom	p.F676	ENST00000254260.3	37	c.2028	CCDS12427.1	19																																																																																			RHPN2	-	NULL	ENSG00000131941		0.542	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHPN2	HGNC	protein_coding	OTTHUMT00000450828.2	173	0.00	0	G	NM_033103		33470935	33470935	-1	no_errors	ENST00000254260	ensembl	human	known	69_37n	silent	83	38.06	51	SNP	1.000	A
RHPN2	85415	genome.wustl.edu	37	19	33470935	33470935	+	Silent	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr19:33470935G>A	ENST00000254260.3	-	15	2063	c.2028C>T	c.(2026-2028)ttC>ttT	p.F676F	RHPN2_ENST00000588683.1_5'UTR|RHPN2_ENST00000400226.4_Silent_p.F525F	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	676					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TGAGAAGGCTGAAAGGGGAGG	0.542																																						dbGAP											0													54.0	56.0	55.0					19																	33470935		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.2028C>T	19.37:g.33470935G>A			B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Silent	SNP	pfam_BRO1_dom,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,superfamily_PDZ,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom	p.F676	ENST00000254260.3	37	c.2028	CCDS12427.1	19																																																																																			RHPN2	-	NULL	ENSG00000131941		0.542	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHPN2	HGNC	protein_coding	OTTHUMT00000450828.2	180	0.00	0	G	NM_033103		33470935	33470935	-1	no_errors	ENST00000254260	ensembl	human	known	69_37n	silent	83	38.06	51	SNP	1.000	A
RNLS	55328	genome.wustl.edu	37	10	90341439	90341439	+	Silent	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr10:90341439G>A	ENST00000331772.4	-	3	274	c.252C>T	c.(250-252)ggC>ggT	p.G84G	RNLS_ENST00000371947.3_Silent_p.G84G|RNLS_ENST00000437752.1_Intron|RNLS_ENST00000466945.1_5'UTR	NM_001031709.2	NP_001026879.2	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	84					cardiac left ventricle morphogenesis (GO:0003214)|dopamine metabolic process (GO:0042417)|epinephrine metabolic process (GO:0042414)|heart contraction (GO:0060047)|norepinephrine metabolic process (GO:0042415)|phosphate ion homeostasis (GO:0055062)|regulation of systemic arterial blood pressure (GO:0003073)|response to epinephrine (GO:0071871)|response to ischemia (GO:0002931)|response to norepinephrine (GO:0071873)|response to salt (GO:1902074)	extracellular space (GO:0005615)	oxidoreductase activity (GO:0016491)			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						GCCTCAAAACGCCATAGGCTA	0.323																																						dbGAP											0													41.0	41.0	41.0					10																	90341439		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC005364	CCDS7388.1, CCDS31239.1	10q23.31	2009-04-22	2009-04-22	2009-04-22	ENSG00000184719	ENSG00000184719			25641	protein-coding gene	gene with protein product		609360	"""chromosome 10 open reading frame 59"""	C10orf59		15841207, 17565281	Standard	NM_001031709		Approved	FLJ11218, renalase	uc001kfe.3	Q5VYX0	OTTHUMG00000018692	ENST00000331772.4:c.252C>T	10.37:g.90341439G>A			Q9BS33|Q9NUP8	Silent	SNP	pfam_Amino_oxidase	p.G84	ENST00000331772.4	37	c.252	CCDS31239.1	10																																																																																			RNLS	-	NULL	ENSG00000184719		0.323	RNLS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RNLS	HGNC	protein_coding	OTTHUMT00000049250.1	64	0.00	0	G	NM_018363		90341439	90341439	-1	no_errors	ENST00000331772	ensembl	human	known	69_37n	silent	24	64.18	43	SNP	0.002	A
RNLS	55328	genome.wustl.edu	37	10	90341439	90341439	+	Silent	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr10:90341439G>A	ENST00000331772.4	-	3	274	c.252C>T	c.(250-252)ggC>ggT	p.G84G	RNLS_ENST00000371947.3_Silent_p.G84G|RNLS_ENST00000437752.1_Intron|RNLS_ENST00000466945.1_5'UTR	NM_001031709.2	NP_001026879.2	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	84					cardiac left ventricle morphogenesis (GO:0003214)|dopamine metabolic process (GO:0042417)|epinephrine metabolic process (GO:0042414)|heart contraction (GO:0060047)|norepinephrine metabolic process (GO:0042415)|phosphate ion homeostasis (GO:0055062)|regulation of systemic arterial blood pressure (GO:0003073)|response to epinephrine (GO:0071871)|response to ischemia (GO:0002931)|response to norepinephrine (GO:0071873)|response to salt (GO:1902074)	extracellular space (GO:0005615)	oxidoreductase activity (GO:0016491)			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						GCCTCAAAACGCCATAGGCTA	0.323																																						dbGAP											0													41.0	41.0	41.0					10																	90341439		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC005364	CCDS7388.1, CCDS31239.1	10q23.31	2009-04-22	2009-04-22	2009-04-22	ENSG00000184719	ENSG00000184719			25641	protein-coding gene	gene with protein product		609360	"""chromosome 10 open reading frame 59"""	C10orf59		15841207, 17565281	Standard	NM_001031709		Approved	FLJ11218, renalase	uc001kfe.3	Q5VYX0	OTTHUMG00000018692	ENST00000331772.4:c.252C>T	10.37:g.90341439G>A			Q9BS33|Q9NUP8	Silent	SNP	pfam_Amino_oxidase	p.G84	ENST00000331772.4	37	c.252	CCDS31239.1	10																																																																																			RNLS	-	NULL	ENSG00000184719		0.323	RNLS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RNLS	HGNC	protein_coding	OTTHUMT00000049250.1	36	0.00	0	G	NM_018363		90341439	90341439	-1	no_errors	ENST00000331772	ensembl	human	known	69_37n	silent	24	64.18	43	SNP	0.002	A
RNPS1	10921	genome.wustl.edu	37	16	2313111	2313111	+	Silent	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr16:2313111C>T	ENST00000565678.1	-	4	950	c.405G>A	c.(403-405)agG>agA	p.R135R	RNPS1_ENST00000561718.1_5'UTR|RNPS1_ENST00000568631.1_Silent_p.R135R|RNPS1_ENST00000567147.1_Silent_p.R112R|RNPS1_ENST00000569598.2_Silent_p.R41R|RNPS1_ENST00000301730.8_Silent_p.R135R|RNPS1_ENST00000320225.5_Silent_p.R135R|RNPS1_ENST00000397086.2_Silent_p.R135R|RNPS1_ENST00000566397.1_5'UTR|RNPS1_ENST00000566458.1_Silent_p.R112R			Q15287	RNPS1_HUMAN	RNA binding protein S1, serine-rich domain	135	Arg-rich.|Necessary for interaction with SRP54, nuclear localization and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.|Ser-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						AGCGGGAGCGCCTCCTGTTGT	0.582																																						dbGAP											0													28.0	29.0	28.0					16																	2313111		2198	4298	6496	-	-	-	SO:0001819	synonymous_variant	0			AF015608	CCDS10465.1, CCDS66907.1, CCDS73811.1	16p13.3	2013-02-12	2001-11-28		ENSG00000205937	ENSG00000205937		"""RNA binding motif (RRM) containing"""	10080	protein-coding gene	gene with protein product		606447	"""RNA-binding protein S1, serine-rich domain"""			9580558, 8543184	Standard	XM_005255048		Approved		uc002cpu.3	Q15287	OTTHUMG00000128828	ENST00000565678.1:c.405G>A	16.37:g.2313111C>T			A8K1P0|B4DDU8|B4DZU7|B7ZA17|O75308|Q32P25|Q8WY42|Q9NYG3	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R135	ENST00000565678.1	37	c.405	CCDS10465.1	16																																																																																			RNPS1	-	NULL	ENSG00000205937		0.582	RNPS1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNPS1	HGNC	protein_coding	OTTHUMT00000435415.1	25	0.00	0	C	NM_080594		2313111	2313111	-1	no_errors	ENST00000301730	ensembl	human	known	69_37n	silent	14	39.13	9	SNP	1.000	T
RNPS1	10921	genome.wustl.edu	37	16	2313111	2313111	+	Silent	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr16:2313111C>T	ENST00000565678.1	-	4	950	c.405G>A	c.(403-405)agG>agA	p.R135R	RNPS1_ENST00000561718.1_5'UTR|RNPS1_ENST00000568631.1_Silent_p.R135R|RNPS1_ENST00000567147.1_Silent_p.R112R|RNPS1_ENST00000569598.2_Silent_p.R41R|RNPS1_ENST00000301730.8_Silent_p.R135R|RNPS1_ENST00000320225.5_Silent_p.R135R|RNPS1_ENST00000397086.2_Silent_p.R135R|RNPS1_ENST00000566397.1_5'UTR|RNPS1_ENST00000566458.1_Silent_p.R112R			Q15287	RNPS1_HUMAN	RNA binding protein S1, serine-rich domain	135	Arg-rich.|Necessary for interaction with SRP54, nuclear localization and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.|Ser-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						AGCGGGAGCGCCTCCTGTTGT	0.582																																						dbGAP											0													28.0	29.0	28.0					16																	2313111		2198	4298	6496	-	-	-	SO:0001819	synonymous_variant	0			AF015608	CCDS10465.1, CCDS66907.1, CCDS73811.1	16p13.3	2013-02-12	2001-11-28		ENSG00000205937	ENSG00000205937		"""RNA binding motif (RRM) containing"""	10080	protein-coding gene	gene with protein product		606447	"""RNA-binding protein S1, serine-rich domain"""			9580558, 8543184	Standard	XM_005255048		Approved		uc002cpu.3	Q15287	OTTHUMG00000128828	ENST00000565678.1:c.405G>A	16.37:g.2313111C>T			A8K1P0|B4DDU8|B4DZU7|B7ZA17|O75308|Q32P25|Q8WY42|Q9NYG3	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R135	ENST00000565678.1	37	c.405	CCDS10465.1	16																																																																																			RNPS1	-	NULL	ENSG00000205937		0.582	RNPS1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNPS1	HGNC	protein_coding	OTTHUMT00000435415.1	21	0.00	0	C	NM_080594		2313111	2313111	-1	no_errors	ENST00000301730	ensembl	human	known	69_37n	silent	14	39.13	9	SNP	1.000	T
SEPT10	151011	genome.wustl.edu	37	2	110301779	110301779	+	3'UTR	SNP	A	A	C	rs200598502	byFrequency	TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr2:110301779A>C	ENST00000397712.2	-	0	1850				SEPT10_ENST00000356688.4_Missense_Mutation_p.F519V|SEPT10_ENST00000468616.1_5'Flank|SEPT10_ENST00000397714.2_3'UTR|SEPT10_ENST00000334001.6_3'UTR	NM_144710.3	NP_653311.1	Q9P0V9	SEP10_HUMAN	septin 10						cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						TGTTCACCAAATATAGAAGTG	0.338																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF146760	CCDS42726.1, CCDS46383.1	2q13	2013-01-21			ENSG00000186522	ENSG00000186522		"""Septins"""	14349	protein-coding gene	gene with protein product	"""sept1-like"""	611737				12711328	Standard	NM_144710		Approved	FLJ11619	uc002tew.4	Q9P0V9	OTTHUMG00000154957	ENST00000397712.2:c.*107T>G	2.37:g.110301779A>C			B3KRQ9|Q86VP5|Q9HAH6	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd	p.F519V	ENST00000397712.2	37	c.1555	CCDS46383.1	2	.	.	.	.	.	.	.	.	.	.	A	8.972	0.973228	0.18736	.	.	ENSG00000186522	ENST00000356688	T	0.54279	0.58	5.37	1.66	0.24008	.	1.901300	0.02724	N	0.114273	T	0.40645	0.1125	.	.	.	0.20638	N	0.999879	B	0.06786	0.001	B	0.08055	0.003	T	0.31194	-0.9952	9	0.87932	D	0	.	2.1719	0.03852	0.5923:0.1635:0.0874:0.1567	.	519	B5ME97	.	V	519	ENSP00000349116:F519V	ENSP00000349116:F519V	F	-	1	0	SEPT10	109659068	0.087000	0.21565	0.491000	0.27477	0.028000	0.11728	0.685000	0.25378	0.099000	0.17552	0.482000	0.46254	TTT	SEPT10	-	NULL	ENSG00000186522		0.338	SEPT10-001	KNOWN	basic|CCDS	protein_coding	SEPT10	HGNC	protein_coding	OTTHUMT00000337804.1	18	0.00	0	A	NM_144710		110301779	110301779	-1	no_errors	ENST00000356688	ensembl	human	putative	69_37n	missense	20	37.50	12	SNP	0.348	C
SLCO2B1	11309	genome.wustl.edu	37	11	74880255	74880255	+	Silent	SNP	G	G	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr11:74880255G>T	ENST00000289575.5	+	5	881	c.486G>T	c.(484-486)ctG>ctT	p.L162L	SLCO2B1_ENST00000525650.1_Silent_p.L18L|SLCO2B1_ENST00000454962.2_Intron|SLCO2B1_ENST00000341411.4_Intron|SLCO2B1_ENST00000532236.1_Silent_p.L46L|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000428359.2_Silent_p.L140L|SLCO2B1_ENST00000526660.1_Intron	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	162					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	CCCTGTGCCTGCCCACAACCT	0.522																																						dbGAP											0													51.0	51.0	51.0					11																	74880255		2200	4293	6493	-	-	-	SO:0001819	synonymous_variant	0			AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.486G>T	11.37:g.74880255G>T			A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Silent	SNP	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.L162	ENST00000289575.5	37	c.486	CCDS8235.1	11																																																																																			SLCO2B1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	ENSG00000137491		0.522	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLCO2B1	HGNC	protein_coding	OTTHUMT00000383933.1	29	0.00	0	G	NM_007256		74880255	74880255	+1	no_errors	ENST00000289575	ensembl	human	known	69_37n	silent	2	84.62	11	SNP	0.136	T
SLCO2B1	11309	genome.wustl.edu	37	11	74880255	74880255	+	Silent	SNP	G	G	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr11:74880255G>T	ENST00000289575.5	+	5	881	c.486G>T	c.(484-486)ctG>ctT	p.L162L	SLCO2B1_ENST00000525650.1_Silent_p.L18L|SLCO2B1_ENST00000454962.2_Intron|SLCO2B1_ENST00000341411.4_Intron|SLCO2B1_ENST00000532236.1_Silent_p.L46L|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000428359.2_Silent_p.L140L|SLCO2B1_ENST00000526660.1_Intron	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	162					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	CCCTGTGCCTGCCCACAACCT	0.522																																						dbGAP											0													51.0	51.0	51.0					11																	74880255		2200	4293	6493	-	-	-	SO:0001819	synonymous_variant	0			AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.486G>T	11.37:g.74880255G>T			A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Silent	SNP	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.L162	ENST00000289575.5	37	c.486	CCDS8235.1	11																																																																																			SLCO2B1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	ENSG00000137491		0.522	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLCO2B1	HGNC	protein_coding	OTTHUMT00000383933.1	88	0.00	0	G	NM_007256		74880255	74880255	+1	no_errors	ENST00000289575	ensembl	human	known	69_37n	silent	2	84.62	11	SNP	0.136	T
SLIT3	6586	genome.wustl.edu	37	5	168310287	168310287	+	Silent	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr5:168310287G>A	ENST00000519560.1	-	5	887	c.468C>T	c.(466-468)atC>atT	p.I156I	SLIT3_ENST00000404867.3_Silent_p.I156I|SLIT3_ENST00000332966.8_Silent_p.I156I	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	156					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCACATCGGTGATGCCGCGGA	0.502																																					Ovarian(29;311 847 10864 17279 24903)	dbGAP											0													140.0	113.0	122.0					5																	168310287		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.468C>T	5.37:g.168310287G>A			A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	pfam_EGF-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.I156	ENST00000519560.1	37	c.468	CCDS4369.1	5																																																																																			SLIT3	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000184347		0.502	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4	100	0.00	0	G	NM_003062		168310287	168310287	-1	no_errors	ENST00000519560	ensembl	human	known	69_37n	silent	46	11.54	6	SNP	0.996	A
SNHG14	104472715	genome.wustl.edu	37	15	25451417	25451417	+	RNA	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr15:25451417G>A	ENST00000424208.1	+	0	2384				SNORD115-18_ENST00000363293.1_RNA|SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA|SNORD115-19_ENST00000363098.1_RNA|SNORD115-20_ENST00000365099.1_RNA|SNORD115-21_ENST00000362963.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		TTGGGTCGATGATGAGAACCT	0.502																																						dbGAP											0													422.0	404.0	410.0					15																	25451417		876	1991	2867	-	-	-			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.25451417G>A				RNA	SNP	-	NULL	ENST00000424208.1	37	NULL		15																																																																																			SNORD115-20	-	-	ENSG00000201969		0.502	SNHG14-002	KNOWN	basic	antisense	SNORD115-20	HGNC	processed_transcript	OTTHUMT00000126729.2	78	0.00	0	G			25451417	25451417	+1	no_errors	ENST00000365099	ensembl	human	known	69_37n	rna	47	25.40	16	SNP	0.207	A
SNHG14	104472715	genome.wustl.edu	37	15	25451417	25451417	+	RNA	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr15:25451417G>A	ENST00000424208.1	+	0	2384				SNORD115-18_ENST00000363293.1_RNA|SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA|SNORD115-19_ENST00000363098.1_RNA|SNORD115-20_ENST00000365099.1_RNA|SNORD115-21_ENST00000362963.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		TTGGGTCGATGATGAGAACCT	0.502																																						dbGAP											0													422.0	404.0	410.0					15																	25451417		876	1991	2867	-	-	-			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.25451417G>A				RNA	SNP	-	NULL	ENST00000424208.1	37	NULL		15																																																																																			SNORD115-20	-	-	ENSG00000201969		0.502	SNHG14-002	KNOWN	basic	antisense	SNORD115-20	HGNC	processed_transcript	OTTHUMT00000126729.2	108	0.00	0	G			25451417	25451417	+1	no_errors	ENST00000365099	ensembl	human	known	69_37n	rna	47	25.40	16	SNP	0.207	A
SNX5	27131	genome.wustl.edu	37	20	17934762	17934762	+	Splice_Site	SNP	C	C	A	rs199532222		TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr20:17934762C>A	ENST00000377768.3	-	5	580		c.e5-1		SNX5_ENST00000483485.1_Splice_Site|SNX5_ENST00000377759.4_Splice_Site	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5						intracellular protein transport (GO:0006886)|pinocytosis (GO:0006907)	cytoplasmic vesicle (GO:0031410)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|extrinsic component of endosome membrane (GO:0031313)|macropinocytic cup (GO:0070685)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						CAGGTGGAATCTGCAGCAGAG	0.512																																						dbGAP											0													100.0	96.0	97.0					20																	17934762		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF121855	CCDS13130.1	20p11	2008-05-22			ENSG00000089006	ENSG00000089006		"""Sorting nexins"""	14969	protein-coding gene	gene with protein product		605937				10600472, 17148574	Standard	NM_152227		Approved		uc002wqc.3	Q9Y5X3	OTTHUMG00000031953	ENST00000377768.3:c.268-1G>T	20.37:g.17934762C>A			B7ZKN3|D3DW26|Q52LC4|Q7KZN0|Q9BWP0	Splice_Site	SNP	-	e4-1	ENST00000377768.3	37	c.268-1	CCDS13130.1	20	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	22.9	4.343956	0.82022	.	.	ENSG00000089006	ENST00000377768;ENST00000377759;ENST00000431277;ENST00000419004	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9784	0.97317	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SNX5	17882762	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.755000	0.85180	2.800000	0.96347	0.455000	0.32223	.	SNX5	-	-	ENSG00000089006		0.512	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX5	HGNC	protein_coding	OTTHUMT00000078137.4	251	0.00	0	C		Intron	17934762	17934762	-1	no_errors	ENST00000377759	ensembl	human	known	69_37n	splice_site	173	30.12	75	SNP	1.000	A
SNX5	27131	genome.wustl.edu	37	20	17934762	17934762	+	Splice_Site	SNP	C	C	A	rs199532222		TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr20:17934762C>A	ENST00000377768.3	-	5	580		c.e5-1		SNX5_ENST00000483485.1_Splice_Site|SNX5_ENST00000377759.4_Splice_Site	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5						intracellular protein transport (GO:0006886)|pinocytosis (GO:0006907)	cytoplasmic vesicle (GO:0031410)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|extrinsic component of endosome membrane (GO:0031313)|macropinocytic cup (GO:0070685)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						CAGGTGGAATCTGCAGCAGAG	0.512																																						dbGAP											0													100.0	96.0	97.0					20																	17934762		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF121855	CCDS13130.1	20p11	2008-05-22			ENSG00000089006	ENSG00000089006		"""Sorting nexins"""	14969	protein-coding gene	gene with protein product		605937				10600472, 17148574	Standard	NM_152227		Approved		uc002wqc.3	Q9Y5X3	OTTHUMG00000031953	ENST00000377768.3:c.268-1G>T	20.37:g.17934762C>A			B7ZKN3|D3DW26|Q52LC4|Q7KZN0|Q9BWP0	Splice_Site	SNP	-	e4-1	ENST00000377768.3	37	c.268-1	CCDS13130.1	20	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	22.9	4.343956	0.82022	.	.	ENSG00000089006	ENST00000377768;ENST00000377759;ENST00000431277;ENST00000419004	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9784	0.97317	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SNX5	17882762	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.755000	0.85180	2.800000	0.96347	0.455000	0.32223	.	SNX5	-	-	ENSG00000089006		0.512	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX5	HGNC	protein_coding	OTTHUMT00000078137.4	246	0.00	0	C		Intron	17934762	17934762	-1	no_errors	ENST00000377759	ensembl	human	known	69_37n	splice_site	173	30.12	75	SNP	1.000	A
SSBP3	23648	genome.wustl.edu	37	1	54704821	54704821	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr1:54704821G>T	ENST00000371320.3	-	14	1318	c.908C>A	c.(907-909)cCt>cAt	p.P303H	SSBP3_ENST00000371319.3_Missense_Mutation_p.P276H|SSBP3_ENST00000417664.2_Missense_Mutation_p.P193H|SSBP3_ENST00000326956.7_5'UTR|SSBP3_ENST00000357475.4_Missense_Mutation_p.P283H	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	303	Gly-rich.|Pro-rich.				head morphogenesis (GO:0060323)|hematopoietic progenitor cell differentiation (GO:0002244)|midbrain-hindbrain boundary initiation (GO:0021547)|positive regulation of anterior head development (GO:2000744)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prechordal plate formation (GO:0021501)|protein complex assembly (GO:0006461)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|protein complex (GO:0043234)	single-stranded DNA binding (GO:0003697)			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						GCTGCCTCCAGGCGGCACTGG	0.408																																						dbGAP											0													71.0	77.0	75.0					1																	54704821		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS590.1, CCDS591.1, CCDS30726.1	1p32.3	2008-02-05	2001-11-28		ENSG00000157216	ENSG00000157216			15674	protein-coding gene	gene with protein product		607390	"""single-stranded DNA-binding protein 3"""			12079286	Standard	NM_145716		Approved	CSDP, SSDP, FLJ10355, SSDP1	uc001cxe.4	Q9BWW4	OTTHUMG00000008264	ENST00000371320.3:c.908C>A	1.37:g.54704821G>T	ENSP00000360371:p.Pro303His		A8K0A9|Q5T860|Q5T861|Q9BTM0|Q9BWW3	Missense_Mutation	SNP	pfam_SSDP_ss-bd,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd	p.P303H	ENST00000371320.3	37	c.908	CCDS591.1	1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341042	0.60963	.	.	ENSG00000157216	ENST00000417664;ENST00000371320;ENST00000371319;ENST00000357475;ENST00000444533	.	.	.	4.79	3.88	0.44766	.	0.000000	0.85682	U	0.000000	T	0.75324	0.3834	M	0.67397	2.05	0.53005	D	0.999967	D;D;D	0.89917	0.992;0.998;1.0	P;D;D	0.73708	0.824;0.967;0.981	T	0.77485	-0.2570	9	0.56958	D	0.05	.	13.1742	0.59617	0.0773:0.0:0.9227:0.0	.	276;283;303	Q9BWW4-2;Q9BWW4-3;Q9BWW4	.;.;SSBP3_HUMAN	H	193;303;276;283;134	.	ENSP00000350067:P283H	P	-	2	0	SSBP3	54477409	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.414000	0.66405	1.375000	0.46248	0.563000	0.77884	CCT	SSBP3	-	pfam_SSDP_ss-bd	ENSG00000157216		0.408	SSBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SSBP3	HGNC	protein_coding	OTTHUMT00000022721.1	28	0.00	0	G	NM_018070		54704821	54704821	-1	no_errors	ENST00000371320	ensembl	human	known	69_37n	missense	13	31.58	6	SNP	1.000	T
SSBP3	23648	genome.wustl.edu	37	1	54704821	54704821	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr1:54704821G>T	ENST00000371320.3	-	14	1318	c.908C>A	c.(907-909)cCt>cAt	p.P303H	SSBP3_ENST00000371319.3_Missense_Mutation_p.P276H|SSBP3_ENST00000417664.2_Missense_Mutation_p.P193H|SSBP3_ENST00000326956.7_5'UTR|SSBP3_ENST00000357475.4_Missense_Mutation_p.P283H	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	303	Gly-rich.|Pro-rich.				head morphogenesis (GO:0060323)|hematopoietic progenitor cell differentiation (GO:0002244)|midbrain-hindbrain boundary initiation (GO:0021547)|positive regulation of anterior head development (GO:2000744)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prechordal plate formation (GO:0021501)|protein complex assembly (GO:0006461)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|protein complex (GO:0043234)	single-stranded DNA binding (GO:0003697)			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						GCTGCCTCCAGGCGGCACTGG	0.408																																						dbGAP											0													71.0	77.0	75.0					1																	54704821		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS590.1, CCDS591.1, CCDS30726.1	1p32.3	2008-02-05	2001-11-28		ENSG00000157216	ENSG00000157216			15674	protein-coding gene	gene with protein product		607390	"""single-stranded DNA-binding protein 3"""			12079286	Standard	NM_145716		Approved	CSDP, SSDP, FLJ10355, SSDP1	uc001cxe.4	Q9BWW4	OTTHUMG00000008264	ENST00000371320.3:c.908C>A	1.37:g.54704821G>T	ENSP00000360371:p.Pro303His		A8K0A9|Q5T860|Q5T861|Q9BTM0|Q9BWW3	Missense_Mutation	SNP	pfam_SSDP_ss-bd,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd	p.P303H	ENST00000371320.3	37	c.908	CCDS591.1	1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341042	0.60963	.	.	ENSG00000157216	ENST00000417664;ENST00000371320;ENST00000371319;ENST00000357475;ENST00000444533	.	.	.	4.79	3.88	0.44766	.	0.000000	0.85682	U	0.000000	T	0.75324	0.3834	M	0.67397	2.05	0.53005	D	0.999967	D;D;D	0.89917	0.992;0.998;1.0	P;D;D	0.73708	0.824;0.967;0.981	T	0.77485	-0.2570	9	0.56958	D	0.05	.	13.1742	0.59617	0.0773:0.0:0.9227:0.0	.	276;283;303	Q9BWW4-2;Q9BWW4-3;Q9BWW4	.;.;SSBP3_HUMAN	H	193;303;276;283;134	.	ENSP00000350067:P283H	P	-	2	0	SSBP3	54477409	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.414000	0.66405	1.375000	0.46248	0.563000	0.77884	CCT	SSBP3	-	pfam_SSDP_ss-bd	ENSG00000157216		0.408	SSBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SSBP3	HGNC	protein_coding	OTTHUMT00000022721.1	11	0.00	0	G	NM_018070		54704821	54704821	-1	no_errors	ENST00000371320	ensembl	human	known	69_37n	missense	13	31.58	6	SNP	1.000	T
SRGAP2	23380	genome.wustl.edu	37	1	206634388	206634388	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr1:206634388G>T	ENST00000414007.1	+	19	2419	c.2419G>T	c.(2419-2421)Gag>Tag	p.E807*				O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	947					actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					GCAGGATATTGAGGCAACAAT	0.517																																						dbGAP											0													49.0	51.0	50.0					1																	206634388		1916	4136	6052	-	-	-	SO:0001587	stop_gained	0			AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"""Rho GTPase activating proteins"""	19751	protein-coding gene	gene with protein product		606524	"""formin binding protein 2"""	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.2419G>T	1.37:g.206634388G>T	ENSP00000390898:p.Glu807*			Nonsense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_RhoGAP_dom,smart_SH3_domain,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.E807*	ENST00000414007.1	37	c.2419		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	7.229204|7.229204	0.98150|0.98150	.|.	.|.	ENSG00000163486|ENSG00000163486	ENST00000414007|ENST00000295713	.|.	.|.	.|.	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.62326|.	D|.	0.03|.	.|.	20.1743|20.1743	0.98175|0.98175	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	807|860	.|.	ENSP00000390898:E807X|.	E|X	+|+	1|2	0|2	SRGAP2|SRGAP2	204701011|204701011	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	9.646000|9.646000	0.98474|0.98474	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	GAG|TGA	SRGAP2	-	NULL	ENSG00000163486		0.517	SRGAP2-201	KNOWN	basic	protein_coding	SRGAP2	HGNC	protein_coding		60	0.00	0	G	NM_015326		206634388	206634388	+1	no_start_codon	ENST00000414007	ensembl	human	known	69_37n	nonsense	107	18.94	25	SNP	1.000	T
STAM2	10254	genome.wustl.edu	37	2	152982824	152982824	+	Silent	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr2:152982824C>T	ENST00000263904.4	-	12	1444	c.1095G>A	c.(1093-1095)gtG>gtA	p.V365V		NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	365	ITAM.|Interaction with HGS. {ECO:0000250}.				endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		GTGCTTCATTCACCAATTTGT	0.403																																						dbGAP											0													89.0	79.0	82.0					2																	152982824		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF042274	CCDS2196.1	2q23.3	2009-04-29			ENSG00000115145	ENSG00000115145			11358	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	606244				10899310, 10993906	Standard	NM_005843		Approved	Hbp	uc002tyc.4	O75886	OTTHUMG00000131885	ENST00000263904.4:c.1095G>A	2.37:g.152982824C>T			A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	Silent	SNP	pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_Ubiquitin-int_motif,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox	p.V365	ENST00000263904.4	37	c.1095	CCDS2196.1	2																																																																																			STAM2	-	NULL	ENSG00000115145		0.403	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAM2	HGNC	protein_coding	OTTHUMT00000254835.2	74	0.00	0	C	NM_005843		152982824	152982824	-1	no_errors	ENST00000263904	ensembl	human	known	69_37n	silent	27	25.00	9	SNP	1.000	T
STAM2	10254	genome.wustl.edu	37	2	152982824	152982824	+	Silent	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr2:152982824C>T	ENST00000263904.4	-	12	1444	c.1095G>A	c.(1093-1095)gtG>gtA	p.V365V		NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	365	ITAM.|Interaction with HGS. {ECO:0000250}.				endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		GTGCTTCATTCACCAATTTGT	0.403																																						dbGAP											0													89.0	79.0	82.0					2																	152982824		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF042274	CCDS2196.1	2q23.3	2009-04-29			ENSG00000115145	ENSG00000115145			11358	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	606244				10899310, 10993906	Standard	NM_005843		Approved	Hbp	uc002tyc.4	O75886	OTTHUMG00000131885	ENST00000263904.4:c.1095G>A	2.37:g.152982824C>T			A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	Silent	SNP	pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_Ubiquitin-int_motif,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox	p.V365	ENST00000263904.4	37	c.1095	CCDS2196.1	2																																																																																			STAM2	-	NULL	ENSG00000115145		0.403	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAM2	HGNC	protein_coding	OTTHUMT00000254835.2	23	0.00	0	C	NM_005843		152982824	152982824	-1	no_errors	ENST00000263904	ensembl	human	known	69_37n	silent	27	25.00	9	SNP	1.000	T
SYNE2	23224	genome.wustl.edu	37	14	64457239	64457239	+	Silent	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr14:64457239C>T	ENST00000344113.4	+	20	2636	c.2424C>T	c.(2422-2424)ctC>ctT	p.L808L	SYNE2_ENST00000358025.3_Silent_p.L808L|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.L808L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	808					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AACATGTTCTCACAACTGGGC	0.378																																						dbGAP											0													108.0	105.0	106.0					14																	64457239		1838	4096	5934	-	-	-	SO:0001819	synonymous_variant	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.2424C>T	14.37:g.64457239C>T			Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L808	ENST00000344113.4	37	c.2424	CCDS41963.1	14																																																																																			SYNE2	-	NULL	ENSG00000054654		0.378	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	321	0.00	0	C	NM_182914		64457239	64457239	+1	no_errors	ENST00000358025	ensembl	human	known	69_37n	silent	127	34.20	66	SNP	0.094	T
SYNE2	23224	genome.wustl.edu	37	14	64457239	64457239	+	Silent	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr14:64457239C>T	ENST00000344113.4	+	20	2636	c.2424C>T	c.(2422-2424)ctC>ctT	p.L808L	SYNE2_ENST00000358025.3_Silent_p.L808L|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.L808L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	808					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AACATGTTCTCACAACTGGGC	0.378																																						dbGAP											0													108.0	105.0	106.0					14																	64457239		1838	4096	5934	-	-	-	SO:0001819	synonymous_variant	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.2424C>T	14.37:g.64457239C>T			Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L808	ENST00000344113.4	37	c.2424	CCDS41963.1	14																																																																																			SYNE2	-	NULL	ENSG00000054654		0.378	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	178	0.00	0	C	NM_182914		64457239	64457239	+1	no_errors	ENST00000358025	ensembl	human	known	69_37n	silent	127	34.20	66	SNP	0.094	T
TBP	6908	genome.wustl.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427|rs369312237	byFrequency	TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572																																						dbGAP											4	Substitution - coding silent(4)	lung(3)|prostate(1)											14.0	19.0	17.0					6																	170871052		1952	3842	5794	-	-	-	SO:0001819	synonymous_variant	0			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.228G>A	6.37:g.170871052G>A			B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	pfam_TBP,prints_TBP	p.Q76	ENST00000392092.2	37	c.228	CCDS5315.1	6																																																																																			TBP	-	NULL	ENSG00000112592		0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBP	HGNC	protein_coding	OTTHUMT00000043271.2	34	0.00	0	G	NM_003194		170871052	170871052	+1	no_errors	ENST00000230354	ensembl	human	known	69_37n	silent	50	16.67	10	SNP	0.994	A
TEKT3	64518	genome.wustl.edu	37	17	15234729	15234729	+	Silent	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr17:15234729G>A	ENST00000395930.1	-	3	360	c.174C>T	c.(172-174)gtC>gtT	p.V58V	TEKT3_ENST00000338696.2_Silent_p.V58V	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	58					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		AATTGGAGGCGACTTTGTAGT	0.532																																						dbGAP											0													120.0	115.0	117.0					17																	15234729		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.174C>T	17.37:g.15234729G>A			B2RAS7|D3DTT0|Q8N5R5|Q96M48	Silent	SNP	pfam_Tektin,prints_Tektin	p.V58	ENST00000395930.1	37	c.174	CCDS11169.1	17																																																																																			TEKT3	-	NULL	ENSG00000125409		0.532	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT3	HGNC	protein_coding	OTTHUMT00000130385.2	246	0.00	0	G	NM_031898		15234729	15234729	-1	no_errors	ENST00000338696	ensembl	human	known	69_37n	silent	135	11.18	17	SNP	0.005	A
TEKT3	64518	genome.wustl.edu	37	17	15234729	15234729	+	Silent	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr17:15234729G>A	ENST00000395930.1	-	3	360	c.174C>T	c.(172-174)gtC>gtT	p.V58V	TEKT3_ENST00000338696.2_Silent_p.V58V	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	58					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		AATTGGAGGCGACTTTGTAGT	0.532																																						dbGAP											0													120.0	115.0	117.0					17																	15234729		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.174C>T	17.37:g.15234729G>A			B2RAS7|D3DTT0|Q8N5R5|Q96M48	Silent	SNP	pfam_Tektin,prints_Tektin	p.V58	ENST00000395930.1	37	c.174	CCDS11169.1	17																																																																																			TEKT3	-	NULL	ENSG00000125409		0.532	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT3	HGNC	protein_coding	OTTHUMT00000130385.2	358	0.28	1	G	NM_031898		15234729	15234729	-1	no_errors	ENST00000338696	ensembl	human	known	69_37n	silent	135	11.18	17	SNP	0.005	A
TFAP4	7023	genome.wustl.edu	37	16	4310234	4310234	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr16:4310234G>A	ENST00000204517.6	-	6	1007	c.679C>T	c.(679-681)Ccg>Tcg	p.P227S		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	227	Pro-rich.				cellular response to dexamethasone stimulus (GO:0071549)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GTGGGGGCCGGAGGGGGCAGA	0.612																																						dbGAP											0													21.0	22.0	22.0					16																	4310234		2183	4277	6460	-	-	-	SO:0001583	missense	0			X57435	CCDS10510.1	16p13	2013-05-21	2001-11-28		ENSG00000090447	ENSG00000090447		"""Basic helix-loop-helix proteins"""	11745	protein-coding gene	gene with protein product		600743	"""transcription factor AP-4 (activating enhancer-binding protein 4)"""			2123466	Standard	NM_003223		Approved	AP-4, bHLHc41	uc010uxg.2	Q01664	OTTHUMG00000129435	ENST00000204517.6:c.679C>T	16.37:g.4310234G>A	ENSP00000204517:p.Pro227Ser		O60409	Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.P227S	ENST00000204517.6	37	c.679	CCDS10510.1	16	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835794	0.71373	.	.	ENSG00000090447	ENST00000204517	D	0.98822	-5.16	4.79	4.79	0.61399	.	0.000000	0.64402	D	0.000001	D	0.96620	0.8897	L	0.54323	1.7	0.49130	D	0.999754	P	0.38395	0.629	B	0.34346	0.18	D	0.97294	0.9926	10	0.09338	T	0.73	.	17.6422	0.88139	0.0:0.0:1.0:0.0	.	227	Q01664	TFAP4_HUMAN	S	227	ENSP00000204517:P227S	ENSP00000204517:P227S	P	-	1	0	TFAP4	4250235	1.000000	0.71417	0.997000	0.53966	0.710000	0.40934	8.797000	0.91882	2.466000	0.83321	0.563000	0.77884	CCG	TFAP4	-	NULL	ENSG00000090447		0.612	TFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP4	HGNC	protein_coding	OTTHUMT00000251595.2	21	0.00	0	G	NM_003223		4310234	4310234	-1	no_errors	ENST00000204517	ensembl	human	known	69_37n	missense	16	20.00	4	SNP	1.000	A
TINAG	27283	genome.wustl.edu	37	6	54173424	54173424	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr6:54173424C>T	ENST00000259782.4	+	1	172	c.76C>T	c.(76-78)Caa>Taa	p.Q26*	TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370864.3_Nonsense_Mutation_p.Q8*|TINAG_ENST00000370869.3_Nonsense_Mutation_p.Q22*	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	26					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GTATTTATCTCAAAGAGAAGT	0.398																																						dbGAP											0													85.0	81.0	82.0					6																	54173424		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.76C>T	6.37:g.54173424C>T	ENSP00000259782:p.Gln26*		Q5T467|Q9UJW1|Q9ULZ4	Nonsense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom	p.Q26*	ENST00000259782.4	37	c.76	CCDS4955.1	6	.	.	.	.	.	.	.	.	.	.	C	19.76	3.887259	0.72410	.	.	ENSG00000137251	ENST00000370869;ENST00000339741;ENST00000259782;ENST00000370864	.	.	.	5.61	3.65	0.41850	.	1.016600	0.07856	N	0.965486	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	13.1079	0.59257	0.0:0.5017:0.4983:0.0	.	.	.	.	X	22;26;26;8	.	ENSP00000259782:Q26X	Q	+	1	0	TINAG	54281383	0.000000	0.05858	0.006000	0.13384	0.321000	0.28281	-0.120000	0.10660	0.477000	0.27464	0.591000	0.81541	CAA	TINAG	-	NULL	ENSG00000137251		0.398	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TINAG	HGNC	protein_coding	OTTHUMT00000040984.1	589	0.00	0	C	NM_014464		54173424	54173424	+1	no_errors	ENST00000259782	ensembl	human	known	69_37n	nonsense	348	35.07	188	SNP	0.004	T
TINAG	27283	genome.wustl.edu	37	6	54173424	54173424	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr6:54173424C>T	ENST00000259782.4	+	1	172	c.76C>T	c.(76-78)Caa>Taa	p.Q26*	TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370864.3_Nonsense_Mutation_p.Q8*|TINAG_ENST00000370869.3_Nonsense_Mutation_p.Q22*	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	26					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GTATTTATCTCAAAGAGAAGT	0.398																																						dbGAP											0													85.0	81.0	82.0					6																	54173424		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.76C>T	6.37:g.54173424C>T	ENSP00000259782:p.Gln26*		Q5T467|Q9UJW1|Q9ULZ4	Nonsense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom	p.Q26*	ENST00000259782.4	37	c.76	CCDS4955.1	6	.	.	.	.	.	.	.	.	.	.	C	19.76	3.887259	0.72410	.	.	ENSG00000137251	ENST00000370869;ENST00000339741;ENST00000259782;ENST00000370864	.	.	.	5.61	3.65	0.41850	.	1.016600	0.07856	N	0.965486	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	13.1079	0.59257	0.0:0.5017:0.4983:0.0	.	.	.	.	X	22;26;26;8	.	ENSP00000259782:Q26X	Q	+	1	0	TINAG	54281383	0.000000	0.05858	0.006000	0.13384	0.321000	0.28281	-0.120000	0.10660	0.477000	0.27464	0.591000	0.81541	CAA	TINAG	-	NULL	ENSG00000137251		0.398	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TINAG	HGNC	protein_coding	OTTHUMT00000040984.1	493	0.00	0	C	NM_014464		54173424	54173424	+1	no_errors	ENST00000259782	ensembl	human	known	69_37n	nonsense	348	35.07	188	SNP	0.004	T
TOX4	9878	genome.wustl.edu	37	14	21964747	21964747	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr14:21964747G>A	ENST00000405508.1	+	10	2125	c.1849G>A	c.(1849-1851)Gtg>Atg	p.V617M	TOX4_ENST00000262709.3_Missense_Mutation_p.V617M|TOX4_ENST00000448790.2_Missense_Mutation_p.V594M			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	617						chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		TTCAAACACAGTGGTGTTTGT	0.408																																						dbGAP											0													139.0	129.0	132.0					14																	21964747		2203	4298	6501	-	-	-	SO:0001583	missense	0			AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1849G>A	14.37:g.21964747G>A	ENSP00000385102:p.Val617Met		B4DPY8|B4DSM0|E7EV69	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.V617M	ENST00000405508.1	37	c.1849	CCDS32043.1	14	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844442	0.71488	.	.	ENSG00000092203	ENST00000405508;ENST00000262709;ENST00000448790;ENST00000545559	T;T;T	0.12147	2.72;2.72;2.71	5.01	5.01	0.66863	.	0.240399	0.35466	N	0.003194	T	0.19087	0.0458	N	0.08118	0	0.43647	D	0.996055	D;D	0.55605	0.972;0.972	D;D	0.70487	0.969;0.969	T	0.16689	-1.0394	10	0.54805	T	0.06	.	15.7033	0.77558	0.0:0.0:1.0:0.0	.	594;617	B4DPY8;O94842	.;TOX4_HUMAN	M	617;617;594;545	ENSP00000385102:V617M;ENSP00000262709:V617M;ENSP00000393080:V594M	ENSP00000262709:V617M	V	+	1	0	TOX4	21034587	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	2.985000	0.49362	2.768000	0.95171	0.650000	0.86243	GTG	TOX4	-	NULL	ENSG00000092203		0.408	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOX4	HGNC	protein_coding	OTTHUMT00000317287.2	96	0.00	0	G	NM_014828		21964747	21964747	+1	no_errors	ENST00000262709	ensembl	human	known	69_37n	missense	58	41.41	41	SNP	0.998	A
TOX4	9878	genome.wustl.edu	37	14	21964747	21964747	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr14:21964747G>A	ENST00000405508.1	+	10	2125	c.1849G>A	c.(1849-1851)Gtg>Atg	p.V617M	TOX4_ENST00000262709.3_Missense_Mutation_p.V617M|TOX4_ENST00000448790.2_Missense_Mutation_p.V594M			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	617						chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		TTCAAACACAGTGGTGTTTGT	0.408																																						dbGAP											0													139.0	129.0	132.0					14																	21964747		2203	4298	6501	-	-	-	SO:0001583	missense	0			AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1849G>A	14.37:g.21964747G>A	ENSP00000385102:p.Val617Met		B4DPY8|B4DSM0|E7EV69	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.V617M	ENST00000405508.1	37	c.1849	CCDS32043.1	14	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844442	0.71488	.	.	ENSG00000092203	ENST00000405508;ENST00000262709;ENST00000448790;ENST00000545559	T;T;T	0.12147	2.72;2.72;2.71	5.01	5.01	0.66863	.	0.240399	0.35466	N	0.003194	T	0.19087	0.0458	N	0.08118	0	0.43647	D	0.996055	D;D	0.55605	0.972;0.972	D;D	0.70487	0.969;0.969	T	0.16689	-1.0394	10	0.54805	T	0.06	.	15.7033	0.77558	0.0:0.0:1.0:0.0	.	594;617	B4DPY8;O94842	.;TOX4_HUMAN	M	617;617;594;545	ENSP00000385102:V617M;ENSP00000262709:V617M;ENSP00000393080:V594M	ENSP00000262709:V617M	V	+	1	0	TOX4	21034587	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	2.985000	0.49362	2.768000	0.95171	0.650000	0.86243	GTG	TOX4	-	NULL	ENSG00000092203		0.408	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOX4	HGNC	protein_coding	OTTHUMT00000317287.2	57	0.00	0	G	NM_014828		21964747	21964747	+1	no_errors	ENST00000262709	ensembl	human	known	69_37n	missense	58	41.41	41	SNP	0.998	A
TRABD2A	129293	genome.wustl.edu	37	2	85051114	85051114	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr2:85051114G>A	ENST00000409520.2	-	6	1339	c.1297C>T	c.(1297-1299)Cgg>Tgg	p.R433W	TRABD2A_ENST00000335459.5_Missense_Mutation_p.R384W|TRABD2A_ENST00000479944.1_5'UTR	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	433					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)										CTGAATTGCCGGAGTCGCGGC	0.652																																						dbGAP											0													36.0	42.0	40.0					2																	85051114		2201	4300	6501	-	-	-	SO:0001583	missense	0			BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"""chromosome 2 open reading frame 89"""	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.1297C>T	2.37:g.85051114G>A	ENSP00000387075:p.Arg433Trp		B4DKK8|I6UMB9	Missense_Mutation	SNP	NULL	p.R433W	ENST00000409520.2	37	c.1297		2	.	.	.	.	.	.	.	.	.	.	g	16.18	3.049798	0.55218	.	.	ENSG00000186854	ENST00000335459;ENST00000409520	T;T	0.59364	0.27;0.94	2.89	-0.159	0.13379	.	0.307488	0.24185	N	0.040776	T	0.61937	0.2387	.	.	.	0.09310	N	1	D;D	0.76494	0.999;0.999	P;P	0.61003	0.63;0.882	T	0.54139	-0.8338	9	0.87932	D	0	.	2.6069	0.04880	0.2729:0.0:0.4993:0.2278	.	433;384	Q86V40;Q86V40-2	CB089_HUMAN;.	W	384;433	ENSP00000335004:R384W;ENSP00000387075:R433W	ENSP00000335004:R384W	R	-	1	2	C2orf89	84904625	0.000000	0.05858	0.000000	0.03702	0.231000	0.25187	-0.518000	0.06267	-0.160000	0.11002	-0.444000	0.05651	CGG	TRABD2A	-	NULL	ENSG00000186854		0.652	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	TRABD2A	HGNC	protein_coding		44	0.00	0	G	NM_001080824		85051114	85051114	-1	no_errors	ENST00000409520	ensembl	human	known	69_37n	missense	11	57.69	15	SNP	0.001	A
TRABD2A	129293	genome.wustl.edu	37	2	85051114	85051114	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr2:85051114G>A	ENST00000409520.2	-	6	1339	c.1297C>T	c.(1297-1299)Cgg>Tgg	p.R433W	TRABD2A_ENST00000335459.5_Missense_Mutation_p.R384W|TRABD2A_ENST00000479944.1_5'UTR	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	433					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)										CTGAATTGCCGGAGTCGCGGC	0.652																																						dbGAP											0													36.0	42.0	40.0					2																	85051114		2201	4300	6501	-	-	-	SO:0001583	missense	0			BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"""chromosome 2 open reading frame 89"""	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.1297C>T	2.37:g.85051114G>A	ENSP00000387075:p.Arg433Trp		B4DKK8|I6UMB9	Missense_Mutation	SNP	NULL	p.R433W	ENST00000409520.2	37	c.1297		2	.	.	.	.	.	.	.	.	.	.	g	16.18	3.049798	0.55218	.	.	ENSG00000186854	ENST00000335459;ENST00000409520	T;T	0.59364	0.27;0.94	2.89	-0.159	0.13379	.	0.307488	0.24185	N	0.040776	T	0.61937	0.2387	.	.	.	0.09310	N	1	D;D	0.76494	0.999;0.999	P;P	0.61003	0.63;0.882	T	0.54139	-0.8338	9	0.87932	D	0	.	2.6069	0.04880	0.2729:0.0:0.4993:0.2278	.	433;384	Q86V40;Q86V40-2	CB089_HUMAN;.	W	384;433	ENSP00000335004:R384W;ENSP00000387075:R433W	ENSP00000335004:R384W	R	-	1	2	C2orf89	84904625	0.000000	0.05858	0.000000	0.03702	0.231000	0.25187	-0.518000	0.06267	-0.160000	0.11002	-0.444000	0.05651	CGG	TRABD2A	-	NULL	ENSG00000186854		0.652	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	TRABD2A	HGNC	protein_coding		37	0.00	0	G	NM_001080824		85051114	85051114	-1	no_errors	ENST00000409520	ensembl	human	known	69_37n	missense	11	57.69	15	SNP	0.001	A
TUFT1	7286	genome.wustl.edu	37	1	151536442	151536442	+	Silent	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr1:151536442G>A	ENST00000368849.3	+	4	362	c.300G>A	c.(298-300)aaG>aaA	p.K100K	RP11-74C1.4_ENST00000434112.1_RNA|TUFT1_ENST00000353024.3_Silent_p.K41K|TUFT1_ENST00000392712.3_Silent_p.K75K|TUFT1_ENST00000368848.2_Silent_p.K75K|TUFT1_ENST00000538902.1_Silent_p.K119K	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	100					bone mineralization (GO:0030282)|odontogenesis (GO:0042476)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	structural constituent of tooth enamel (GO:0030345)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACCAGCTGAAGAGTGAGGTCC	0.428																																						dbGAP											0													131.0	117.0	122.0					1																	151536442		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF254260	CCDS1000.1, CCDS44223.1	1q21	2008-02-05			ENSG00000143367	ENSG00000143367			12422	protein-coding gene	gene with protein product		600087				7919663	Standard	NM_020127		Approved		uc001eyl.3	Q9NNX1	OTTHUMG00000012536	ENST00000368849.3:c.300G>A	1.37:g.151536442G>A			B2RD57|D3DV21|D3DV22|Q5T384|Q5T385|Q9BU28|Q9H5L1	Silent	SNP	superfamily_Prefoldin	p.K119	ENST00000368849.3	37	c.357	CCDS1000.1	1																																																																																			TUFT1	-	NULL	ENSG00000143367		0.428	TUFT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	TUFT1	HGNC	protein_coding	OTTHUMT00000035022.1	108	0.00	0	G	NM_020127		151536442	151536442	+1	no_errors	ENST00000538902	ensembl	human	known	69_37n	silent	178	15.57	33	SNP	1.000	A
TUFT1	7286	genome.wustl.edu	37	1	151536442	151536442	+	Silent	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr1:151536442G>A	ENST00000368849.3	+	4	362	c.300G>A	c.(298-300)aaG>aaA	p.K100K	RP11-74C1.4_ENST00000434112.1_RNA|TUFT1_ENST00000353024.3_Silent_p.K41K|TUFT1_ENST00000392712.3_Silent_p.K75K|TUFT1_ENST00000368848.2_Silent_p.K75K|TUFT1_ENST00000538902.1_Silent_p.K119K	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	100					bone mineralization (GO:0030282)|odontogenesis (GO:0042476)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	structural constituent of tooth enamel (GO:0030345)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACCAGCTGAAGAGTGAGGTCC	0.428																																						dbGAP											0													131.0	117.0	122.0					1																	151536442		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF254260	CCDS1000.1, CCDS44223.1	1q21	2008-02-05			ENSG00000143367	ENSG00000143367			12422	protein-coding gene	gene with protein product		600087				7919663	Standard	NM_020127		Approved		uc001eyl.3	Q9NNX1	OTTHUMG00000012536	ENST00000368849.3:c.300G>A	1.37:g.151536442G>A			B2RD57|D3DV21|D3DV22|Q5T384|Q5T385|Q9BU28|Q9H5L1	Silent	SNP	superfamily_Prefoldin	p.K119	ENST00000368849.3	37	c.357	CCDS1000.1	1																																																																																			TUFT1	-	NULL	ENSG00000143367		0.428	TUFT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	TUFT1	HGNC	protein_coding	OTTHUMT00000035022.1	65	0.00	0	G	NM_020127		151536442	151536442	+1	no_errors	ENST00000538902	ensembl	human	known	69_37n	silent	178	15.57	33	SNP	1.000	A
TXN	7295	genome.wustl.edu	37	9	113006463	113006463	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr9:113006463C>T	ENST00000374517.5	-	5	496	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	TXN_ENST00000487892.1_5'UTR|TXN_ENST00000374515.5_Missense_Mutation_p.E78K	NM_003329.3	NP_003320.2	P10599	THIO_HUMAN	thioredoxin	98	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|glycerol ether metabolic process (GO:0006662)|innate immune response (GO:0045087)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|oxidation-reduction process (GO:0055114)|positive regulation of DNA binding (GO:0043388)|regulation of protein import into nucleus, translocation (GO:0033158)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	peptide disulfide oxidoreductase activity (GO:0015037)|poly(A) RNA binding (GO:0044822)|protein disulfide oxidoreductase activity (GO:0015035)			kidney(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(323;7.36e-07)		ATGGTGGCTTCAAGCTTTTCC	0.289																																						dbGAP											0													35.0	33.0	34.0					9																	113006463		2202	4295	6497	-	-	-	SO:0001583	missense	0			X77584	CCDS35103.1, CCDS59139.1	9q31	2008-02-05			ENSG00000136810	ENSG00000136810			12435	protein-coding gene	gene with protein product		187700					Standard	NM_003329		Approved	TRX	uc004bep.2	P10599	OTTHUMG00000020480	ENST00000374517.5:c.292G>A	9.37:g.113006463C>T	ENSP00000363641:p.Glu98Lys		B1ALW1|O60744|Q53X69|Q96KI3|Q9UDG5	Missense_Mutation	SNP	pfam_Thioredoxin_domain,pfam_mRNA_splic_U5,superfamily_Thioredoxin-like_fold,prints_Thioredoxin	p.E98K	ENST00000374517.5	37	c.292	CCDS35103.1	9	.	.	.	.	.	.	.	.	.	.	C	21.2	4.108297	0.77096	.	.	ENSG00000136810	ENST00000374517;ENST00000374515	T;T	0.22539	4.02;1.95	5.45	5.45	0.79879	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.061285	0.64402	D	0.000007	T	0.27454	0.0674	N	0.10972	0.075	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.14755	-1.0461	10	0.39692	T	0.17	-24.6878	14.7982	0.69894	0.0:1.0:0.0:0.0	.	78;98	B1ALW1;P10599	.;THIO_HUMAN	K	98;78	ENSP00000363641:E98K;ENSP00000363639:E78K	ENSP00000363639:E78K	E	-	1	0	TXN	112046284	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.083000	0.64456	2.546000	0.85860	0.655000	0.94253	GAA	TXN	-	pfam_Thioredoxin_domain,pfam_mRNA_splic_U5,superfamily_Thioredoxin-like_fold	ENSG00000136810		0.289	TXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXN	HGNC	protein_coding	OTTHUMT00000053614.1	42	0.00	0	C			113006463	113006463	-1	no_errors	ENST00000374517	ensembl	human	known	69_37n	missense	17	34.62	9	SNP	1.000	T
UBP1	7342	genome.wustl.edu	37	3	33434910	33434910	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr3:33434910G>A	ENST00000283629.3	-	14	1956	c.1427C>T	c.(1426-1428)tCa>tTa	p.S476L	UBP1_ENST00000447368.2_Missense_Mutation_p.S440L|UBP1_ENST00000283628.5_Missense_Mutation_p.S476L|UBP1_ENST00000486388.1_5'UTR	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	476					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						AGCAACTTCTGAGGCAATCAT	0.358																																						dbGAP											0													77.0	76.0	76.0					3																	33434910		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.1427C>T	3.37:g.33434910G>A	ENSP00000283629:p.Ser476Leu		Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Missense_Mutation	SNP	pfam_CP2,superfamily_SAM/pointed	p.S476L	ENST00000283629.3	37	c.1427	CCDS2659.1	3	.	.	.	.	.	.	.	.	.	.	G	13.88	2.367873	0.42003	.	.	ENSG00000153560	ENST00000283629;ENST00000447368;ENST00000283628	T;T;T	0.17528	2.31;2.27;2.31	5.89	5.89	0.94794	.	0.136548	0.50627	D	0.000112	T	0.09862	0.0242	N	0.11313	0.125	0.42825	D	0.994007	B;B	0.14438	0.01;0.0	B;B	0.11329	0.006;0.001	T	0.30327	-0.9982	10	0.19590	T	0.45	-8.9129	13.4496	0.61163	0.0713:0.0:0.9287:0.0	.	440;476	Q9NZI7-4;Q9NZI7	.;UBIP1_HUMAN	L	476;440;476	ENSP00000283629:S476L;ENSP00000395558:S440L;ENSP00000283628:S476L	ENSP00000283628:S476L	S	-	2	0	UBP1	33409914	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.790000	0.62453	2.788000	0.95919	0.557000	0.71058	TCA	UBP1	-	NULL	ENSG00000153560		0.358	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBP1	HGNC	protein_coding	OTTHUMT00000253249.2	125	0.00	0	G	NM_014517		33434910	33434910	-1	no_errors	ENST00000283628	ensembl	human	known	69_37n	missense	65	29.35	27	SNP	1.000	A
UBP1	7342	genome.wustl.edu	37	3	33434910	33434910	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr3:33434910G>A	ENST00000283629.3	-	14	1956	c.1427C>T	c.(1426-1428)tCa>tTa	p.S476L	UBP1_ENST00000447368.2_Missense_Mutation_p.S440L|UBP1_ENST00000283628.5_Missense_Mutation_p.S476L|UBP1_ENST00000486388.1_5'UTR	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	476					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						AGCAACTTCTGAGGCAATCAT	0.358																																						dbGAP											0													77.0	76.0	76.0					3																	33434910		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.1427C>T	3.37:g.33434910G>A	ENSP00000283629:p.Ser476Leu		Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Missense_Mutation	SNP	pfam_CP2,superfamily_SAM/pointed	p.S476L	ENST00000283629.3	37	c.1427	CCDS2659.1	3	.	.	.	.	.	.	.	.	.	.	G	13.88	2.367873	0.42003	.	.	ENSG00000153560	ENST00000283629;ENST00000447368;ENST00000283628	T;T;T	0.17528	2.31;2.27;2.31	5.89	5.89	0.94794	.	0.136548	0.50627	D	0.000112	T	0.09862	0.0242	N	0.11313	0.125	0.42825	D	0.994007	B;B	0.14438	0.01;0.0	B;B	0.11329	0.006;0.001	T	0.30327	-0.9982	10	0.19590	T	0.45	-8.9129	13.4496	0.61163	0.0713:0.0:0.9287:0.0	.	440;476	Q9NZI7-4;Q9NZI7	.;UBIP1_HUMAN	L	476;440;476	ENSP00000283629:S476L;ENSP00000395558:S440L;ENSP00000283628:S476L	ENSP00000283628:S476L	S	-	2	0	UBP1	33409914	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.790000	0.62453	2.788000	0.95919	0.557000	0.71058	TCA	UBP1	-	NULL	ENSG00000153560		0.358	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBP1	HGNC	protein_coding	OTTHUMT00000253249.2	59	0.00	0	G	NM_014517		33434910	33434910	-1	no_errors	ENST00000283628	ensembl	human	known	69_37n	missense	65	29.35	27	SNP	1.000	A
UBR5	51366	genome.wustl.edu	37	8	103274157	103274157	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr8:103274157C>T	ENST00000520539.1	-	55	8434	c.7828G>A	c.(7828-7830)Gaa>Aaa	p.E2610K	UBR5_ENST00000518205.1_Missense_Mutation_p.E338K|UBR5_ENST00000521922.1_Missense_Mutation_p.E2603K|UBR5_ENST00000220959.4_Missense_Mutation_p.E2609K	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2610	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CCTCCACCTTCTTCTTTACAC	0.408																																					Ovarian(131;96 1741 5634 7352 27489)	dbGAP											0													142.0	138.0	139.0					8																	103274157		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.7828G>A	8.37:g.103274157C>T	ENSP00000429084:p.Glu2610Lys		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.E2610K	ENST00000520539.1	37	c.7828	CCDS34933.1	8	.	.	.	.	.	.	.	.	.	.	C	36	5.747836	0.96882	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.49	5.49	0.81192	HECT (4);	0.000000	0.85682	D	0.000000	T	0.67449	0.2894	M	0.84219	2.685	0.80722	D	1	P;P	0.43542	0.583;0.81	P;P	0.58577	0.731;0.841	T	0.70543	-0.4843	10	0.72032	D	0.01	.	19.3565	0.94416	0.0:1.0:0.0:0.0	.	2603;2610	E7EMW7;O95071	.;UBR5_HUMAN	K	2610;2609;338;2603	ENSP00000429084:E2610K;ENSP00000220959:E2609K;ENSP00000428693:E338K;ENSP00000427819:E2603K	ENSP00000220959:E2609K	E	-	1	0	UBR5	103343333	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.484000	0.81180	2.567000	0.86603	0.591000	0.81541	GAA	UBR5	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000104517		0.408	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2	267	0.00	0	C	NM_015902		103274157	103274157	-1	no_errors	ENST00000520539	ensembl	human	known	69_37n	missense	123	25.00	41	SNP	1.000	T
UBR5	51366	genome.wustl.edu	37	8	103274157	103274157	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr8:103274157C>T	ENST00000520539.1	-	55	8434	c.7828G>A	c.(7828-7830)Gaa>Aaa	p.E2610K	UBR5_ENST00000518205.1_Missense_Mutation_p.E338K|UBR5_ENST00000521922.1_Missense_Mutation_p.E2603K|UBR5_ENST00000220959.4_Missense_Mutation_p.E2609K	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2610	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CCTCCACCTTCTTCTTTACAC	0.408																																					Ovarian(131;96 1741 5634 7352 27489)	dbGAP											0													142.0	138.0	139.0					8																	103274157		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.7828G>A	8.37:g.103274157C>T	ENSP00000429084:p.Glu2610Lys		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.E2610K	ENST00000520539.1	37	c.7828	CCDS34933.1	8	.	.	.	.	.	.	.	.	.	.	C	36	5.747836	0.96882	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.49	5.49	0.81192	HECT (4);	0.000000	0.85682	D	0.000000	T	0.67449	0.2894	M	0.84219	2.685	0.80722	D	1	P;P	0.43542	0.583;0.81	P;P	0.58577	0.731;0.841	T	0.70543	-0.4843	10	0.72032	D	0.01	.	19.3565	0.94416	0.0:1.0:0.0:0.0	.	2603;2610	E7EMW7;O95071	.;UBR5_HUMAN	K	2610;2609;338;2603	ENSP00000429084:E2610K;ENSP00000220959:E2609K;ENSP00000428693:E338K;ENSP00000427819:E2603K	ENSP00000220959:E2609K	E	-	1	0	UBR5	103343333	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.484000	0.81180	2.567000	0.86603	0.591000	0.81541	GAA	UBR5	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000104517		0.408	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2	122	0.81	1	C	NM_015902		103274157	103274157	-1	no_errors	ENST00000520539	ensembl	human	known	69_37n	missense	123	25.00	41	SNP	1.000	T
UTRN	7402	genome.wustl.edu	37	6	144784000	144784000	+	Missense_Mutation	SNP	G	G	A	rs200897894		TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr6:144784000G>A	ENST00000367545.3	+	22	3064	c.3064G>A	c.(3064-3066)Gag>Aag	p.E1022K		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1022					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CAGAGCTTTTGAGGTAAATCC	0.338																																						dbGAP											0													70.0	78.0	75.0					6																	144784000		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.3064G>A	6.37:g.144784000G>A	ENSP00000356515:p.Glu1022Lys		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.E1022K	ENST00000367545.3	37	c.3064	CCDS34547.1	6	.	.	.	.	.	.	.	.	.	.	G	11.72	1.721339	0.30503	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.50277	0.75	5.47	4.59	0.56863	.	0.122489	0.36409	N	0.002617	T	0.29355	0.0731	M	0.64997	1.995	0.80722	D	1	B	0.14012	0.009	B	0.17979	0.02	T	0.20306	-1.0279	10	0.46703	T	0.11	.	10.9386	0.47260	0.0711:0.1297:0.7992:0.0	.	1022	P46939	UTRO_HUMAN	K	1022	ENSP00000356515:E1022K	ENSP00000356499:E1022K	E	+	1	0	UTRN	144825693	1.000000	0.71417	1.000000	0.80357	0.437000	0.31866	2.868000	0.48436	1.261000	0.44149	0.655000	0.94253	GAG	UTRN	-	smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000152818		0.338	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	131	0.00	0	G			144784000	144784000	+1	no_errors	ENST00000367545	ensembl	human	known	69_37n	missense	68	39.29	44	SNP	1.000	A
UTRN	7402	genome.wustl.edu	37	6	144784000	144784000	+	Missense_Mutation	SNP	G	G	A	rs200897894		TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr6:144784000G>A	ENST00000367545.3	+	22	3064	c.3064G>A	c.(3064-3066)Gag>Aag	p.E1022K		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1022					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CAGAGCTTTTGAGGTAAATCC	0.338																																						dbGAP											0													70.0	78.0	75.0					6																	144784000		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.3064G>A	6.37:g.144784000G>A	ENSP00000356515:p.Glu1022Lys		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.E1022K	ENST00000367545.3	37	c.3064	CCDS34547.1	6	.	.	.	.	.	.	.	.	.	.	G	11.72	1.721339	0.30503	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.50277	0.75	5.47	4.59	0.56863	.	0.122489	0.36409	N	0.002617	T	0.29355	0.0731	M	0.64997	1.995	0.80722	D	1	B	0.14012	0.009	B	0.17979	0.02	T	0.20306	-1.0279	10	0.46703	T	0.11	.	10.9386	0.47260	0.0711:0.1297:0.7992:0.0	.	1022	P46939	UTRO_HUMAN	K	1022	ENSP00000356515:E1022K	ENSP00000356499:E1022K	E	+	1	0	UTRN	144825693	1.000000	0.71417	1.000000	0.80357	0.437000	0.31866	2.868000	0.48436	1.261000	0.44149	0.655000	0.94253	GAG	UTRN	-	smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000152818		0.338	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	93	0.00	0	G			144784000	144784000	+1	no_errors	ENST00000367545	ensembl	human	known	69_37n	missense	68	39.29	44	SNP	1.000	A
VPS13B	157680	genome.wustl.edu	37	8	100205158	100205158	+	Silent	SNP	C	C	G			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr8:100205158C>G	ENST00000358544.2	+	17	2499	c.2388C>G	c.(2386-2388)ctC>ctG	p.L796L	VPS13B_ENST00000357162.2_Silent_p.L796L|VPS13B_ENST00000521932.1_3'UTR|VPS13B_ENST00000355155.1_Silent_p.L796L|VPS13B_ENST00000395996.1_Silent_p.L796L	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	796					protein transport (GO:0015031)			p.L796L(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTCCAAATCTCACAATTCAAG	0.373																																					Colon(161;2205 2542 7338 31318)	dbGAP											2	Substitution - coding silent(2)	lung(2)											133.0	124.0	127.0					8																	100205158		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.2388C>G	8.37:g.100205158C>G			C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	pfam_Autophagy-rel_C	p.L796	ENST00000358544.2	37	c.2388	CCDS6280.1	8																																																																																			VPS13B	-	NULL	ENSG00000132549		0.373	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	272	0.00	0	C	NM_184042		100205158	100205158	+1	no_errors	ENST00000358544	ensembl	human	known	69_37n	silent	122	31.84	57	SNP	0.999	G
VPS13B	157680	genome.wustl.edu	37	8	100205158	100205158	+	Silent	SNP	C	C	G			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr8:100205158C>G	ENST00000358544.2	+	17	2499	c.2388C>G	c.(2386-2388)ctC>ctG	p.L796L	VPS13B_ENST00000357162.2_Silent_p.L796L|VPS13B_ENST00000521932.1_3'UTR|VPS13B_ENST00000355155.1_Silent_p.L796L|VPS13B_ENST00000395996.1_Silent_p.L796L	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	796					protein transport (GO:0015031)			p.L796L(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTCCAAATCTCACAATTCAAG	0.373																																					Colon(161;2205 2542 7338 31318)	dbGAP											2	Substitution - coding silent(2)	lung(2)											133.0	124.0	127.0					8																	100205158		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.2388C>G	8.37:g.100205158C>G			C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	pfam_Autophagy-rel_C	p.L796	ENST00000358544.2	37	c.2388	CCDS6280.1	8																																																																																			VPS13B	-	NULL	ENSG00000132549		0.373	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	121	0.00	0	C	NM_184042		100205158	100205158	+1	no_errors	ENST00000358544	ensembl	human	known	69_37n	silent	122	31.84	57	SNP	0.999	G
WNT3A	89780	genome.wustl.edu	37	1	228210498	228210498	+	Missense_Mutation	SNP	G	G	A	rs548478697		TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr1:228210498G>A	ENST00000284523.1	+	2	280	c.202G>A	c.(202-204)Gag>Aag	p.E68K	WNT3A_ENST00000366753.2_Missense_Mutation_p.E68K	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	68					axis elongation involved in somitogenesis (GO:0090245)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cellular response to retinoic acid (GO:0071300)|COP9 signalosome assembly (GO:0010387)|dorsal/ventral neural tube patterning (GO:0021904)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|mammary gland development (GO:0030879)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesodermal cell fate commitment (GO:0048343)|platelet aggregation (GO:0070527)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000081)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dermatome development (GO:0061184)|positive regulation of mesodermal cell fate specification (GO:0048337)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of receptor internalization (GO:0002092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|regulation of microtubule cytoskeleton organization (GO:0070507)|skeletal muscle cell differentiation (GO:0035914)|spinal cord association neuron differentiation (GO:0021527)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription coactivator activity (GO:0003713)	p.E68K(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CAGCGTGGCCGAGGGCATCAA	0.667													G|||	1	0.000199681	0.0	0.0	5008	,	,		17521	0.0		0.001	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	lung(1)											57.0	55.0	55.0					1																	228210498		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	15983	protein-coding gene	gene with protein product		606359				11414706	Standard	NM_033131		Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.202G>A	1.37:g.228210498G>A	ENSP00000284523:p.Glu68Lys		Q3SY79|Q3SY80|Q969P2	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt3	p.E68K	ENST00000284523.1	37	c.202	CCDS1564.1	1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643004	0.87859	.	.	ENSG00000154342	ENST00000284523;ENST00000366753	T;T	0.75477	-0.94;-0.94	4.47	4.47	0.54385	.	0.185184	0.45867	D	0.000323	T	0.74846	0.3770	L	0.45352	1.415	0.80722	D	1	D;B	0.53462	0.96;0.432	P;B	0.50896	0.653;0.105	T	0.74887	-0.3511	10	0.36615	T	0.2	.	16.9039	0.86120	0.0:0.0:1.0:0.0	.	68;68	P56704;Q3SY79	WNT3A_HUMAN;.	K	68	ENSP00000284523:E68K;ENSP00000355715:E68K	ENSP00000284523:E68K	E	+	1	0	WNT3A	226277121	1.000000	0.71417	0.943000	0.38184	0.954000	0.61252	7.531000	0.81973	2.311000	0.77944	0.586000	0.80456	GAG	WNT3A	-	pfam_Wnt,smart_Wnt	ENSG00000154342		0.667	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT3A	HGNC	protein_coding	OTTHUMT00000091648.1	24	0.00	0	G	NM_033131		228210498	228210498	+1	no_errors	ENST00000366753	ensembl	human	known	69_37n	missense	48	14.29	8	SNP	1.000	A
WNT3A	89780	genome.wustl.edu	37	1	228210498	228210498	+	Missense_Mutation	SNP	G	G	A	rs548478697		TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr1:228210498G>A	ENST00000284523.1	+	2	280	c.202G>A	c.(202-204)Gag>Aag	p.E68K	WNT3A_ENST00000366753.2_Missense_Mutation_p.E68K	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	68					axis elongation involved in somitogenesis (GO:0090245)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cellular response to retinoic acid (GO:0071300)|COP9 signalosome assembly (GO:0010387)|dorsal/ventral neural tube patterning (GO:0021904)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|mammary gland development (GO:0030879)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesodermal cell fate commitment (GO:0048343)|platelet aggregation (GO:0070527)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000081)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dermatome development (GO:0061184)|positive regulation of mesodermal cell fate specification (GO:0048337)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of receptor internalization (GO:0002092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|regulation of microtubule cytoskeleton organization (GO:0070507)|skeletal muscle cell differentiation (GO:0035914)|spinal cord association neuron differentiation (GO:0021527)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription coactivator activity (GO:0003713)	p.E68K(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CAGCGTGGCCGAGGGCATCAA	0.667													G|||	1	0.000199681	0.0	0.0	5008	,	,		17521	0.0		0.001	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	lung(1)											57.0	55.0	55.0					1																	228210498		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	15983	protein-coding gene	gene with protein product		606359				11414706	Standard	NM_033131		Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.202G>A	1.37:g.228210498G>A	ENSP00000284523:p.Glu68Lys		Q3SY79|Q3SY80|Q969P2	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt3	p.E68K	ENST00000284523.1	37	c.202	CCDS1564.1	1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643004	0.87859	.	.	ENSG00000154342	ENST00000284523;ENST00000366753	T;T	0.75477	-0.94;-0.94	4.47	4.47	0.54385	.	0.185184	0.45867	D	0.000323	T	0.74846	0.3770	L	0.45352	1.415	0.80722	D	1	D;B	0.53462	0.96;0.432	P;B	0.50896	0.653;0.105	T	0.74887	-0.3511	10	0.36615	T	0.2	.	16.9039	0.86120	0.0:0.0:1.0:0.0	.	68;68	P56704;Q3SY79	WNT3A_HUMAN;.	K	68	ENSP00000284523:E68K;ENSP00000355715:E68K	ENSP00000284523:E68K	E	+	1	0	WNT3A	226277121	1.000000	0.71417	0.943000	0.38184	0.954000	0.61252	7.531000	0.81973	2.311000	0.77944	0.586000	0.80456	GAG	WNT3A	-	pfam_Wnt,smart_Wnt	ENSG00000154342		0.667	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT3A	HGNC	protein_coding	OTTHUMT00000091648.1	34	0.00	0	G	NM_033131		228210498	228210498	+1	no_errors	ENST00000366753	ensembl	human	known	69_37n	missense	48	14.29	8	SNP	1.000	A
ZBTB10	65986	genome.wustl.edu	37	8	81399907	81399907	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr8:81399907C>T	ENST00000430430.1	+	2	1641	c.862C>T	c.(862-864)Ccc>Tcc	p.P288S	ZBTB10_ENST00000426744.2_Missense_Mutation_p.P288S|Y_RNA_ENST00000605948.1_RNA|ZBTB10_ENST00000455036.3_Missense_Mutation_p.P288S|ZBTB10_ENST00000379091.4_Intron	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	288					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(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			CGTGGACCTTCCCCCAGTGGG	0.577																																						dbGAP											0													44.0	48.0	46.0					8																	81399907		1955	4127	6082	-	-	-	SO:0001583	missense	0			AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.862C>T	8.37:g.81399907C>T	ENSP00000387462:p.Pro288Ser		A4FVD0|Q86W96|Q8IXI9|Q96MH9	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.P288S	ENST00000430430.1	37	c.862	CCDS47880.1	8	.	.	.	.	.	.	.	.	.	.	C	13.38	2.220754	0.39201	.	.	ENSG00000205189	ENST00000430430;ENST00000455036;ENST00000426744;ENST00000519370	T;T;T	0.11930	2.73;2.73;2.73	5.04	4.16	0.48862	.	0.099255	0.40818	N	0.001006	T	0.08758	0.0217	N	0.14661	0.345	0.25384	N	0.988586	B;B;B	0.26809	0.131;0.035;0.16	B;B;B	0.24701	0.039;0.018;0.055	T	0.22661	-1.0210	10	0.72032	D	0.01	.	10.4632	0.44592	0.1409:0.7046:0.1545:0.0	.	144;288;288	A8E4L4;Q96DT7;Q96DT7-2	.;ZBT10_HUMAN;.	S	288;288;288;116	ENSP00000387462:P288S;ENSP00000412036:P288S;ENSP00000416134:P288S	ENSP00000416134:P288S	P	+	1	0	ZBTB10	81562462	0.001000	0.12720	0.833000	0.33012	0.503000	0.33858	0.490000	0.22403	1.084000	0.41184	0.650000	0.86243	CCC	ZBTB10	-	NULL	ENSG00000205189		0.577	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZBTB10	HGNC	protein_coding	OTTHUMT00000338055.2	41	0.00	0	C	NM_023929		81399907	81399907	+1	no_errors	ENST00000426744	ensembl	human	known	69_37n	missense	17	41.38	12	SNP	0.989	T
ZBTB10	65986	genome.wustl.edu	37	8	81399907	81399907	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr8:81399907C>T	ENST00000430430.1	+	2	1641	c.862C>T	c.(862-864)Ccc>Tcc	p.P288S	ZBTB10_ENST00000426744.2_Missense_Mutation_p.P288S|Y_RNA_ENST00000605948.1_RNA|ZBTB10_ENST00000455036.3_Missense_Mutation_p.P288S|ZBTB10_ENST00000379091.4_Intron	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	288					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(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			CGTGGACCTTCCCCCAGTGGG	0.577																																						dbGAP											0													44.0	48.0	46.0					8																	81399907		1955	4127	6082	-	-	-	SO:0001583	missense	0			AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.862C>T	8.37:g.81399907C>T	ENSP00000387462:p.Pro288Ser		A4FVD0|Q86W96|Q8IXI9|Q96MH9	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.P288S	ENST00000430430.1	37	c.862	CCDS47880.1	8	.	.	.	.	.	.	.	.	.	.	C	13.38	2.220754	0.39201	.	.	ENSG00000205189	ENST00000430430;ENST00000455036;ENST00000426744;ENST00000519370	T;T;T	0.11930	2.73;2.73;2.73	5.04	4.16	0.48862	.	0.099255	0.40818	N	0.001006	T	0.08758	0.0217	N	0.14661	0.345	0.25384	N	0.988586	B;B;B	0.26809	0.131;0.035;0.16	B;B;B	0.24701	0.039;0.018;0.055	T	0.22661	-1.0210	10	0.72032	D	0.01	.	10.4632	0.44592	0.1409:0.7046:0.1545:0.0	.	144;288;288	A8E4L4;Q96DT7;Q96DT7-2	.;ZBT10_HUMAN;.	S	288;288;288;116	ENSP00000387462:P288S;ENSP00000412036:P288S;ENSP00000416134:P288S	ENSP00000416134:P288S	P	+	1	0	ZBTB10	81562462	0.001000	0.12720	0.833000	0.33012	0.503000	0.33858	0.490000	0.22403	1.084000	0.41184	0.650000	0.86243	CCC	ZBTB10	-	NULL	ENSG00000205189		0.577	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZBTB10	HGNC	protein_coding	OTTHUMT00000338055.2	19	0.00	0	C	NM_023929		81399907	81399907	+1	no_errors	ENST00000426744	ensembl	human	known	69_37n	missense	17	41.38	12	SNP	0.989	T
ZDHHC1	29800	genome.wustl.edu	37	16	67432162	67432162	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr16:67432162delC	ENST00000348579.2	-	8	1221	c.880delG	c.(880-882)gttfs	p.V294fs	ZDHHC1_ENST00000566075.1_5'Flank	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	294					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		TCCCTGTGAACCCCCTTGGCC	0.627																																						dbGAP											0													128.0	112.0	117.0					16																	67432162		2198	4300	6498	-	-	-	SO:0001589	frameshift_variant	0			U90653	CCDS10836.1	16q22.1	2010-03-25	2003-01-27		ENSG00000159714	ENSG00000159714		"""Zinc fingers, DHHC-type"""	17916	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 1"""	C16orf1		10395086	Standard	NM_013304		Approved	HSU90653, ZNF377	uc010vjm.2	Q8WTX9	OTTHUMG00000137522	ENST00000348579.2:c.880delG	16.37:g.67432162delC	ENSP00000340299:p.Val294fs		O15461	Frame_Shift_Del	DEL	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.V294fs	ENST00000348579.2	37	c.880	CCDS10836.1	16																																																																																			ZDHHC1	-	NULL	ENSG00000159714		0.627	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC1	HGNC	protein_coding	OTTHUMT00000268845.1	49	0.00	0	C	NM_013304		67432162	67432162	-1	no_errors	ENST00000348579	ensembl	human	known	69_37n	frame_shift_del	4	33.33	2	DEL	0.878	-
ZDHHC1	29800	genome.wustl.edu	37	16	67432162	67432162	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr16:67432162delC	ENST00000348579.2	-	8	1221	c.880delG	c.(880-882)gttfs	p.V294fs	ZDHHC1_ENST00000566075.1_5'Flank	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	294					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		TCCCTGTGAACCCCCTTGGCC	0.627																																						dbGAP											0													128.0	112.0	117.0					16																	67432162		2198	4300	6498	-	-	-	SO:0001589	frameshift_variant	0			U90653	CCDS10836.1	16q22.1	2010-03-25	2003-01-27		ENSG00000159714	ENSG00000159714		"""Zinc fingers, DHHC-type"""	17916	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 1"""	C16orf1		10395086	Standard	NM_013304		Approved	HSU90653, ZNF377	uc010vjm.2	Q8WTX9	OTTHUMG00000137522	ENST00000348579.2:c.880delG	16.37:g.67432162delC	ENSP00000340299:p.Val294fs		O15461	Frame_Shift_Del	DEL	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.V294fs	ENST00000348579.2	37	c.880	CCDS10836.1	16																																																																																			ZDHHC1	-	NULL	ENSG00000159714		0.627	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC1	HGNC	protein_coding	OTTHUMT00000268845.1	12	0.00	0	C	NM_013304		67432162	67432162	-1	no_errors	ENST00000348579	ensembl	human	known	69_37n	frame_shift_del	4	33.33	2	DEL	0.878	-
ZFAND1	79752	genome.wustl.edu	37	8	82629498	82629498	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr8:82629498G>A	ENST00000220669.5	-	3	142	c.124C>T	c.(124-126)Cat>Tat	p.H42Y	ZFAND1_ENST00000523096.1_Missense_Mutation_p.H42Y|ZFAND1_ENST00000519523.1_Missense_Mutation_p.H42Y|ZFAND1_ENST00000521895.1_Intron|ZFAND1_ENST00000522520.1_Intron|ZFAND1_ENST00000521287.1_Intron|ZFAND1_ENST00000517588.1_Intron	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	42							zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						GGACAACCATGAGACTCCCTG	0.299																																						dbGAP											0													107.0	107.0	107.0					8																	82629498		2203	4297	6500	-	-	-	SO:0001583	missense	0				CCDS6232.1, CCDS55250.1, CCDS55251.1	8q21.13	2006-07-07						"""Zinc fingers, AN1-type domain containing"""	25858	protein-coding gene	gene with protein product						12477932	Standard	NM_024699		Approved	FLJ14007	uc003ycj.2	Q8TCF1		ENST00000220669.5:c.124C>T	8.37:g.82629498G>A	ENSP00000220669:p.His42Tyr		E5RIG0|E5RJ99|Q658R7|Q6IA32|Q6PGQ6|Q9H810	Missense_Mutation	SNP	pfam_Znf_AN1,smart_Znf_AN1,pfscan_Znf_AN1	p.H42Y	ENST00000220669.5	37	c.124	CCDS6232.1	8	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589736	0.86851	.	.	ENSG00000104231	ENST00000523096;ENST00000220669;ENST00000519523	D;D;D	0.88664	-2.41;-2.41;-2.41	5.71	5.71	0.89125	Zinc finger, AN1-type (4);	0.000000	0.85682	D	0.000000	D	0.96886	0.8983	H	0.97983	4.12	0.80722	D	1	D;D	0.76494	0.999;0.985	D;P	0.68192	0.956;0.847	D	0.97950	1.0331	10	0.87932	D	0	.	19.8593	0.96777	0.0:0.0:1.0:0.0	.	42;42	E5RIG0;Q8TCF1	.;ZFAN1_HUMAN	Y	42	ENSP00000430736:H42Y;ENSP00000220669:H42Y;ENSP00000429167:H42Y	ENSP00000220669:H42Y	H	-	1	0	ZFAND1	82792053	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	8.484000	0.90445	2.700000	0.92200	0.557000	0.71058	CAT	ZFAND1	-	pfam_Znf_AN1,smart_Znf_AN1,pfscan_Znf_AN1	ENSG00000104231		0.299	ZFAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAND1	HGNC	protein_coding	OTTHUMT00000379739.1	170	0.00	0	G	NM_024699		82629498	82629498	-1	no_errors	ENST00000220669	ensembl	human	known	69_37n	missense	103	31.33	47	SNP	1.000	A
ZFAND1	79752	genome.wustl.edu	37	8	82629498	82629498	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr8:82629498G>A	ENST00000220669.5	-	3	142	c.124C>T	c.(124-126)Cat>Tat	p.H42Y	ZFAND1_ENST00000523096.1_Missense_Mutation_p.H42Y|ZFAND1_ENST00000519523.1_Missense_Mutation_p.H42Y|ZFAND1_ENST00000521895.1_Intron|ZFAND1_ENST00000522520.1_Intron|ZFAND1_ENST00000521287.1_Intron|ZFAND1_ENST00000517588.1_Intron	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	42							zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						GGACAACCATGAGACTCCCTG	0.299																																						dbGAP											0													107.0	107.0	107.0					8																	82629498		2203	4297	6500	-	-	-	SO:0001583	missense	0				CCDS6232.1, CCDS55250.1, CCDS55251.1	8q21.13	2006-07-07						"""Zinc fingers, AN1-type domain containing"""	25858	protein-coding gene	gene with protein product						12477932	Standard	NM_024699		Approved	FLJ14007	uc003ycj.2	Q8TCF1		ENST00000220669.5:c.124C>T	8.37:g.82629498G>A	ENSP00000220669:p.His42Tyr		E5RIG0|E5RJ99|Q658R7|Q6IA32|Q6PGQ6|Q9H810	Missense_Mutation	SNP	pfam_Znf_AN1,smart_Znf_AN1,pfscan_Znf_AN1	p.H42Y	ENST00000220669.5	37	c.124	CCDS6232.1	8	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589736	0.86851	.	.	ENSG00000104231	ENST00000523096;ENST00000220669;ENST00000519523	D;D;D	0.88664	-2.41;-2.41;-2.41	5.71	5.71	0.89125	Zinc finger, AN1-type (4);	0.000000	0.85682	D	0.000000	D	0.96886	0.8983	H	0.97983	4.12	0.80722	D	1	D;D	0.76494	0.999;0.985	D;P	0.68192	0.956;0.847	D	0.97950	1.0331	10	0.87932	D	0	.	19.8593	0.96777	0.0:0.0:1.0:0.0	.	42;42	E5RIG0;Q8TCF1	.;ZFAN1_HUMAN	Y	42	ENSP00000430736:H42Y;ENSP00000220669:H42Y;ENSP00000429167:H42Y	ENSP00000220669:H42Y	H	-	1	0	ZFAND1	82792053	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	8.484000	0.90445	2.700000	0.92200	0.557000	0.71058	CAT	ZFAND1	-	pfam_Znf_AN1,smart_Znf_AN1,pfscan_Znf_AN1	ENSG00000104231		0.299	ZFAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAND1	HGNC	protein_coding	OTTHUMT00000379739.1	73	0.00	0	G	NM_024699		82629498	82629498	-1	no_errors	ENST00000220669	ensembl	human	known	69_37n	missense	103	31.33	47	SNP	1.000	A
ZNFX1	57169	genome.wustl.edu	37	20	47864113	47864113	+	Silent	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr20:47864113C>T	ENST00000396105.1	-	14	5694	c.5448G>A	c.(5446-5448)ctG>ctA	p.L1816L	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Silent_p.L1816L|ZNFX1_ENST00000469991.1_5'Flank	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1816							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGGTGGCTTTCAGAGCTTCCA	0.493																																						dbGAP											0													113.0	110.0	111.0					20																	47864113		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.5448G>A	20.37:g.47864113C>T			Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Silent	SNP	superfamily_ARM-type_fold,smart_Znf_NFX1	p.L1816	ENST00000396105.1	37	c.5448	CCDS13417.1	20																																																																																			ZNFX1	-	NULL	ENSG00000124201		0.493	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNFX1	HGNC	protein_coding	OTTHUMT00000079647.2	137	0.00	0	C	NM_021035		47864113	47864113	-1	no_errors	ENST00000371752	ensembl	human	known	69_37n	silent	98	10.09	11	SNP	0.997	T
ZNFX1	57169	genome.wustl.edu	37	20	47864113	47864113	+	Silent	SNP	C	C	T			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr20:47864113C>T	ENST00000396105.1	-	14	5694	c.5448G>A	c.(5446-5448)ctG>ctA	p.L1816L	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Silent_p.L1816L|ZNFX1_ENST00000469991.1_5'Flank	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1816							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGGTGGCTTTCAGAGCTTCCA	0.493																																						dbGAP											0													113.0	110.0	111.0					20																	47864113		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.5448G>A	20.37:g.47864113C>T			Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Silent	SNP	superfamily_ARM-type_fold,smart_Znf_NFX1	p.L1816	ENST00000396105.1	37	c.5448	CCDS13417.1	20																																																																																			ZNFX1	-	NULL	ENSG00000124201		0.493	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNFX1	HGNC	protein_coding	OTTHUMT00000079647.2	184	0.00	0	C	NM_021035		47864113	47864113	-1	no_errors	ENST00000371752	ensembl	human	known	69_37n	silent	98	10.09	11	SNP	0.997	T
ZSCAN16	80345	genome.wustl.edu	37	6	28093465	28093465	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	2765bf65-94df-4c9a-91c2-0bb653729c02	g.chr6:28093465G>A	ENST00000340487.4	+	2	393	c.244G>A	c.(244-246)Gac>Aac	p.D82N	ZSCAN16-AS1_ENST00000602810.1_RNA|ZSCAN16-AS1_ENST00000600652.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	82	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GCAGATTTTAGACCTGCTGGT	0.562																																						dbGAP											0													116.0	105.0	109.0					6																	28093465		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025844	CCDS4644.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000196812	ENSG00000196812		"""-"", ""Zinc fingers, C2H2-type"""	20813	protein-coding gene	gene with protein product			"""zinc finger protein 392"", ""zinc finger protein 435"""	ZNF392, ZNF435			Standard	NM_025231		Approved	FLJ22191, dJ265C24.3	uc003nkm.3	Q9H4T2	OTTHUMG00000014509	ENST00000340487.4:c.244G>A	6.37:g.28093465G>A	ENSP00000366527:p.Asp82Asn		Q9H6K2	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.D82N	ENST00000340487.4	37	c.244	CCDS4644.1	6	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707799	0.68615	.	.	ENSG00000196812	ENST00000340487	T	0.06768	3.26	4.02	4.02	0.46733	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.20941	0.0504	M	0.82193	2.58	0.34511	D	0.707058	P;D	0.64830	0.952;0.994	P;D	0.64321	0.881;0.924	T	0.04678	-1.0934	9	0.87932	D	0	.	15.5303	0.75956	0.0:0.0:1.0:0.0	.	82;82	B4DFB7;Q9H4T2	.;ZSC16_HUMAN	N	82	ENSP00000366527:D82N	ENSP00000366527:D82N	D	+	1	0	ZSCAN16	28201444	0.560000	0.26570	0.999000	0.59377	0.995000	0.86356	1.834000	0.39171	2.264000	0.75181	0.558000	0.71614	GAC	ZSCAN16	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000196812		0.562	ZSCAN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN16	HGNC	protein_coding	OTTHUMT00000040177.1	261	0.00	0	G	NM_025231		28093465	28093465	+1	no_errors	ENST00000340487	ensembl	human	known	69_37n	missense	118	41.87	85	SNP	1.000	A
ZSCAN16	80345	genome.wustl.edu	37	6	28093465	28093465	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HK-01A-11W-A071-09	TCGA-BH-A0HK-11A-11W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe131f38-d0a6-446b-831f-6f1f9e382594	4e96fa4b-0b08-4a59-9c5b-39c2390bbf4f	g.chr6:28093465G>A	ENST00000340487.4	+	2	393	c.244G>A	c.(244-246)Gac>Aac	p.D82N	ZSCAN16-AS1_ENST00000602810.1_RNA|ZSCAN16-AS1_ENST00000600652.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	82	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GCAGATTTTAGACCTGCTGGT	0.562																																						dbGAP											0													116.0	105.0	109.0					6																	28093465		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025844	CCDS4644.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000196812	ENSG00000196812		"""-"", ""Zinc fingers, C2H2-type"""	20813	protein-coding gene	gene with protein product			"""zinc finger protein 392"", ""zinc finger protein 435"""	ZNF392, ZNF435			Standard	NM_025231		Approved	FLJ22191, dJ265C24.3	uc003nkm.3	Q9H4T2	OTTHUMG00000014509	ENST00000340487.4:c.244G>A	6.37:g.28093465G>A	ENSP00000366527:p.Asp82Asn		Q9H6K2	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.D82N	ENST00000340487.4	37	c.244	CCDS4644.1	6	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707799	0.68615	.	.	ENSG00000196812	ENST00000340487	T	0.06768	3.26	4.02	4.02	0.46733	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.20941	0.0504	M	0.82193	2.58	0.34511	D	0.707058	P;D	0.64830	0.952;0.994	P;D	0.64321	0.881;0.924	T	0.04678	-1.0934	9	0.87932	D	0	.	15.5303	0.75956	0.0:0.0:1.0:0.0	.	82;82	B4DFB7;Q9H4T2	.;ZSC16_HUMAN	N	82	ENSP00000366527:D82N	ENSP00000366527:D82N	D	+	1	0	ZSCAN16	28201444	0.560000	0.26570	0.999000	0.59377	0.995000	0.86356	1.834000	0.39171	2.264000	0.75181	0.558000	0.71614	GAC	ZSCAN16	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000196812		0.562	ZSCAN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN16	HGNC	protein_coding	OTTHUMT00000040177.1	246	0.00	0	G	NM_025231		28093465	28093465	+1	no_errors	ENST00000340487	ensembl	human	known	69_37n	missense	118	41.87	85	SNP	1.000	A
