#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
AAAS	8086	genome.wustl.edu	37	12	53702291	53702291	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr12:53702291C>T	ENST00000209873.4	-	12	1274	c.1109G>A	c.(1108-1110)gGa>gAa	p.G370E	AAAS_ENST00000549983.1_5'Flank|AAAS_ENST00000394384.3_Missense_Mutation_p.G337E|AAAS_ENST00000550286.1_Missense_Mutation_p.G246E	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	370					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						CTTTGCACCTCCAACGCACCC	0.537																																						dbGAP											0													240.0	188.0	206.0					12																	53702291		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"""WD repeat domain containing"""	13666	protein-coding gene	gene with protein product	"""aladin"", ""Allgrove, triple-A"""	605378	"""achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"""			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.1109G>A	12.37:g.53702291C>T	ENSP00000209873:p.Gly370Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JB47|Q9NWI6|Q9UG19	Missense_Mutation	SNP	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G370E	ENST00000209873.4	37	c.1109	CCDS8856.1	12	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365178	0.41902	.	.	ENSG00000094914	ENST00000209873;ENST00000394384;ENST00000550286	T;T;T	0.80214	-1.35;-1.35;-1.35	4.43	4.43	0.53597	WD40/YVTN repeat-like-containing domain (1);	0.182506	0.49305	D	0.000141	T	0.81108	0.4754	N	0.14661	0.345	0.58432	D	0.999997	D;D	0.89917	0.997;1.0	P;D	0.87578	0.814;0.998	T	0.83349	-0.0004	10	0.52906	T	0.07	-10.6161	15.0005	0.71466	0.0:1.0:0.0:0.0	.	337;370	Q5JB47;Q9NRG9	.;AAAS_HUMAN	E	370;337;246	ENSP00000209873:G370E;ENSP00000377908:G337E;ENSP00000446885:G246E	ENSP00000209873:G370E	G	-	2	0	AAAS	51988558	1.000000	0.71417	0.998000	0.56505	0.537000	0.34900	3.685000	0.54678	2.500000	0.84329	0.456000	0.33151	GGA	AAAS	-	NULL	ENSG00000094914		0.537	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAAS	HGNC	protein_coding	OTTHUMT00000405632.1	178	0.00	0	C			53702291	53702291	-1	no_errors	ENST00000209873	ensembl	human	known	69_37n	missense	274	14.55	47	SNP	1.000	T
ALPK1	80216	genome.wustl.edu	37	4	113333139	113333139	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr4:113333139C>T	ENST00000458497.1	+	5	712	c.433C>T	c.(433-435)Ccg>Tcg	p.P145S	ALPK1_ENST00000177648.9_Missense_Mutation_p.P145S|ALPK1_ENST00000505912.1_3'UTR|ALPK1_ENST00000504176.2_Missense_Mutation_p.P67S	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	145							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GCCAATTGCCCCGCAGGTGGT	0.602																																						dbGAP											0													79.0	68.0	72.0					4																	113333139		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.433C>T	4.37:g.113333139C>T	ENSP00000398048:p.Pro145Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.P145S	ENST00000458497.1	37	c.433	CCDS3697.1	4	.	.	.	.	.	.	.	.	.	.	C	12.10	1.836180	0.32421	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000309610;ENST00000504176	T;T;T	0.26957	1.7;1.7;1.7	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.56292	0.1975	M	0.79805	2.47	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.999	T	0.61642	-0.7021	10	0.87932	D	0	-19.0819	19.0546	0.93058	0.0:1.0:0.0:0.0	.	67;120;120;145	F5H138;Q9H623;E7EX13;Q96QP1	.;.;.;ALPK1_HUMAN	S	145;145;120;67	ENSP00000398048:P145S;ENSP00000177648:P145S;ENSP00000426044:P67S	ENSP00000177648:P145S	P	+	1	0	ALPK1	113552588	1.000000	0.71417	0.994000	0.49952	0.153000	0.21895	6.721000	0.74728	2.499000	0.84300	0.462000	0.41574	CCG	ALPK1	-	NULL	ENSG00000073331		0.602	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK1	HGNC	protein_coding	OTTHUMT00000256421.2	103	0.00	0	C	NM_025144		113333139	113333139	+1	no_errors	ENST00000177648	ensembl	human	known	69_37n	missense	110	26.67	40	SNP	1.000	T
AP2A1	160	genome.wustl.edu	37	19	50295238	50295238	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr19:50295238C>T	ENST00000359032.5	+	5	520	c.520C>T	c.(520-522)Cga>Tga	p.R174*	AP2A1_ENST00000354293.5_Nonsense_Mutation_p.R174*|AP2A1_ENST00000600199.1_3'UTR	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	174					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)	p.R174*(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		GTGCCTCCTTCGACTGTACAA	0.647																																						dbGAP											2	Substitution - Nonsense(2)	cervix(2)											72.0	79.0	77.0					19																	50295238		2173	4259	6432	-	-	-	SO:0001587	stop_gained	0			AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.520C>T	19.37:g.50295238C>T	ENSP00000351926:p.Arg174*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96CI7|Q96PP6|Q96PP7|Q9H070	Nonsense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu	p.R174*	ENST00000359032.5	37	c.520	CCDS46148.1	19	.	.	.	.	.	.	.	.	.	.	C	26.7	4.758674	0.89843	.	.	ENSG00000196961	ENST00000354293;ENST00000359032	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2428	0.54553	0.1702:0.8298:0.0:0.0	.	.	.	.	X	174	.	ENSP00000346246:R174X	R	+	1	2	AP2A1	54987050	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	3.022000	0.49659	2.334000	0.79466	0.655000	0.94253	CGA	AP2A1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu	ENSG00000196961		0.647	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	AP2A1	HGNC	protein_coding	OTTHUMT00000465809.1	32	0.00	0	C			50295238	50295238	+1	no_errors	ENST00000359032	ensembl	human	known	69_37n	nonsense	12	38.10	8	SNP	1.000	T
ASB17	127247	genome.wustl.edu	37	1	76387978	76387978	+	Silent	SNP	C	C	T			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr1:76387978C>T	ENST00000284142.6	-	2	607	c.468G>A	c.(466-468)caG>caA	p.Q156Q		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	156					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						ACTGTCTTGTCTGAGCTACAT	0.343																																						dbGAP											0													80.0	74.0	76.0					1																	76387978		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"""Ankyrin repeat domain containing"""	19769	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 17"""			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.468G>A	1.37:g.76387978C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1APB8|Q8N0X5	Silent	SNP	pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_SOCS_C,pfscan_SOCS_C	p.Q156	ENST00000284142.6	37	c.468	CCDS671.1	1																																																																																			ASB17	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000154007		0.343	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB17	HGNC	protein_coding	OTTHUMT00000026982.1	87	0.00	0	C	NM_080868		76387978	76387978	-1	no_errors	ENST00000284142	ensembl	human	known	69_37n	silent	28	54.84	34	SNP	1.000	T
ASXL3	80816	genome.wustl.edu	37	18	31325065	31325065	+	Silent	SNP	G	G	C			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr18:31325065G>C	ENST00000269197.5	+	12	5253	c.5253G>C	c.(5251-5253)acG>acC	p.T1751T		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1751					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CGCTGGTGACGCAGTTACTAC	0.532																																						dbGAP											0													64.0	64.0	64.0					18																	31325065		1992	4188	6180	-	-	-	SO:0001819	synonymous_variant	0			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.5253G>C	18.37:g.31325065G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	superfamily_Znf_FYVE_PHD	p.T1751	ENST00000269197.5	37	c.5253	CCDS45847.1	18																																																																																			ASXL3	-	NULL	ENSG00000141431		0.532	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	HGNC	protein_coding	OTTHUMT00000441865.2	80	0.00	0	G			31325065	31325065	+1	no_errors	ENST00000269197	ensembl	human	known	69_37n	silent	63	13.70	10	SNP	0.846	C
ATXN2L	11273	genome.wustl.edu	37	16	28842013	28842013	+	Missense_Mutation	SNP	G	G	A	rs200982628		TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr16:28842013G>A	ENST00000336783.4	+	9	1279	c.1112G>A	c.(1111-1113)gGc>gAc	p.G371D	RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000395547.2_Missense_Mutation_p.G371D|ATXN2L_ENST00000340394.8_Missense_Mutation_p.G371D|ATXN2L_ENST00000325215.6_Missense_Mutation_p.G371D|ATXN2L_ENST00000382686.4_Missense_Mutation_p.G371D|ATXN2L_ENST00000564304.1_Missense_Mutation_p.G371D|ATXN2L_ENST00000570200.1_Missense_Mutation_p.G371D	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	371					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AGCTCTCGGGGCGGTCGGCCT	0.607																																						dbGAP											0													43.0	43.0	43.0					16																	28842013		2197	4300	6497	-	-	-	SO:0001583	missense	0				CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.1112G>A	16.37:g.28842013G>A	ENSP00000338718:p.Gly371Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.G371D	ENST00000336783.4	37	c.1112	CCDS10641.1	16	.	.	.	.	.	.	.	.	.	.	.	25.3	4.622387	0.87460	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;T;T;T;T	0.47869	0.84;0.83;0.85;0.84;0.85	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.61974	0.2390	L	0.44542	1.39	0.53688	D	0.999979	D;D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D;D;D	0.71656	0.974;0.974;0.922;0.941;0.974;0.964;0.922;0.974	T	0.55742	-0.8093	10	0.35671	T	0.21	-10.3973	18.8117	0.92059	0.0:0.0:1.0:0.0	.	371;371;371;371;371;371;371;371	Q8WWM7-6;Q8WWM7-5;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;.;ATX2L_HUMAN;.;.;.;.	D	371	ENSP00000341459:G371D;ENSP00000378917:G371D;ENSP00000338718:G371D;ENSP00000372133:G371D;ENSP00000315650:G371D	ENSP00000315650:G371D	G	+	2	0	ATXN2L	28749514	1.000000	0.71417	0.987000	0.45799	0.974000	0.67602	3.844000	0.55873	2.750000	0.94351	0.563000	0.77884	GGC	ATXN2L	-	NULL	ENSG00000168488		0.607	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATXN2L	HGNC	protein_coding	OTTHUMT00000214139.1	50	0.00	0	G	NM_007245		28842013	28842013	+1	no_errors	ENST00000395547	ensembl	human	known	69_37n	missense	30	31.82	14	SNP	0.991	A
CACNA1G	8913	genome.wustl.edu	37	17	48694930	48694930	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr17:48694930G>A	ENST00000359106.5	+	29	5153	c.5153G>A	c.(5152-5154)cGa>cAa	p.R1718Q	CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1707Q|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1718Q|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1700Q|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1684Q|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1661Q|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1718Q|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1677Q|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1725Q|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1707Q|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1673Q|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1700Q|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1718Q|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1684Q|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1673Q|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1707Q|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1695Q|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1684Q|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1695Q|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1707Q|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1718Q|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1666Q|CACNA1G_ENST00000352832.5_Missense_Mutation_p.R1684Q|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1684Q|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1700Q	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1718					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)	CGCATTGCCCGAGGTTGGTGC	0.637																																						dbGAP											0																																										-	-	-	SO:0001583	missense	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.5153G>A	17.37:g.48694930G>A	ENSP00000352011:p.Arg1718Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	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	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.R1718Q	ENST00000359106.5	37	c.5153	CCDS45730.1	17	.	.	.	.	.	.	.	.	.	.	g	36	5.773486	0.96922	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.99607	-6.27;-6.27;-6.27;-6.27;-6.27;-6.27;-6.27;-6.27;-6.27;-6.27;-6.27;-6.27;-6.27;-6.27;-6.27;-6.27;-6.27;-6.27;-6.27;-6.27;-6.27;-6.27;-6.27;-6.27;-6.27	5.02	5.02	0.67125	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	H	0.98682	4.3	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.982;1.0;0.999;0.999;1.0;1.0;0.999;1.0;0.999;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.911;1.0;0.997;0.995;0.999;0.997;0.993;0.999;0.993;1.0;0.999;0.972;0.999;0.999;0.979;0.985;1.0;0.981;0.999;1.0;0.986;0.985;0.999;0.998;0.997	D	0.96547	0.9405	10	0.87932	D	0	.	18.3653	0.90389	0.0:0.0:1.0:0.0	.	1661;1673;1666;1700;1673;1700;1725;1684;1718;1707;1718;1695;1707;1707;1700;1707;1718;1695;1718;1684;1677;1684;1695;1718;1684	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	Q	1695;1684;1684;1677;1695;1707;1673;1661;1666;1684;1718;1707;1673;1718;1684;1718;1700;1707;1725;1684;1718;1700;1700;1718;1707	ENSP00000353990:R1695Q;ENSP00000339302:R1684Q;ENSP00000347078:R1684Q;ENSP00000409759:R1677Q;ENSP00000425522:R1695Q;ENSP00000426261:R1707Q;ENSP00000425451:R1673Q;ENSP00000422407:R1661Q;ENSP00000426814:R1666Q;ENSP00000427238:R1684Q;ENSP00000423112:R1718Q;ENSP00000420918:R1707Q;ENSP00000426172:R1673Q;ENSP00000423045:R1718Q;ENSP00000427173:R1684Q;ENSP00000426098:R1718Q;ENSP00000425698:R1700Q;ENSP00000426232:R1707Q;ENSP00000423317:R1725Q;ENSP00000350979:R1684Q;ENSP00000352011:R1718Q;ENSP00000414388:R1700Q;ENSP00000423155:R1700Q;ENSP00000422268:R1718Q;ENSP00000421518:R1707Q	ENSP00000339302:R1684Q	R	+	2	0	CACNA1G	46049929	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.869000	0.99810	2.348000	0.79779	0.655000	0.94253	CGA	CACNA1G	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000006283		0.637	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	HGNC	protein_coding	OTTHUMT00000367895.1	29	0.00	0	G	NM_018896		48694930	48694930	+1	no_errors	ENST00000359106	ensembl	human	known	69_37n	missense	37	36.21	21	SNP	1.000	A
CNDP1	84735	genome.wustl.edu	37	18	72244205	72244205	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr18:72244205C>G	ENST00000358821.3	+	8	1171	c.943C>G	c.(943-945)Cta>Gta	p.L315V	CNDP1_ENST00000582365.1_Missense_Mutation_p.L272V	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	315						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		AGCCATCCATCTAGACCTAGA	0.448																																					Melanoma(32;1029 1042 25286 38395 44237)	dbGAP											0													116.0	105.0	109.0					18																	72244205		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"""carnosinase 1"", ""glutamate carboxypeptidase-like protein 2"""	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.943C>G	18.37:g.72244205C>G	ENSP00000351682:p.Leu315Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1	p.L315V	ENST00000358821.3	37	c.943	CCDS12007.1	18	.	.	.	.	.	.	.	.	.	.	C	9.756	1.168835	0.21621	.	.	ENSG00000150656	ENST00000358821	T	0.14391	2.51	5.28	0.261	0.15592	Peptidase M20, dimerisation (1);	0.270733	0.35407	N	0.003222	T	0.09379	0.0231	L	0.41632	1.29	0.24658	N	0.993488	B	0.28178	0.202	B	0.28849	0.095	T	0.20706	-1.0267	10	0.87932	D	0	-15.2913	3.0115	0.06046	0.315:0.3522:0.0:0.3328	.	315	Q96KN2	CNDP1_HUMAN	V	315	ENSP00000351682:L315V	ENSP00000351682:L315V	L	+	1	2	CNDP1	70395185	0.707000	0.27866	0.248000	0.24265	0.273000	0.26683	1.052000	0.30429	0.210000	0.20664	0.655000	0.94253	CTA	CNDP1	-	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1	ENSG00000150656		0.448	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNDP1	HGNC	protein_coding	OTTHUMT00000256326.1	276	0.36	1	C	NM_032649		72244205	72244205	+1	no_errors	ENST00000358821	ensembl	human	known	69_37n	missense	138	13.21	21	SNP	0.653	G
CPT1A	1374	genome.wustl.edu	37	11	68530198	68530199	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	GC	GC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr11:68530198_68530199delGC	ENST00000265641.5	-	15	1925_1926	c.1771_1772delGC	c.(1771-1773)gccfs	p.A591fs	CPT1A_ENST00000539743.1_Frame_Shift_Del_p.A591fs|CPT1A_ENST00000537756.2_5'UTR|CPT1A_ENST00000376618.2_Frame_Shift_Del_p.A591fs|CPT1A_ENST00000540367.1_Frame_Shift_Del_p.A591fs	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	591					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	GGTCATGGAGGCCTCGTATGTG	0.589																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.1771_1772delGC	11.37:g.68530198_68530199delGC	ENSP00000265641:p.Ala591fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TCU0|Q9BWK0	Frame_Shift_Del	DEL	pfam_Carn_acyl_trans	p.A591fs	ENST00000265641.5	37	c.1772_1771	CCDS8185.1	11																																																																																			CPT1A	-	pfam_Carn_acyl_trans	ENSG00000110090		0.589	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPT1A	HGNC	protein_coding	OTTHUMT00000397457.2	49	0.00	0	GC	NM_001876		68530198	68530199	-1	no_errors	ENST00000265641	ensembl	human	known	69_37n	frame_shift_del	71	40.00	48	DEL	1.000:1.000	-
CRYBB1	1414	genome.wustl.edu	37	22	27008076	27008077	+	Missense_Mutation	DNP	CA	CA	AG			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	C|A	C|A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr22:27008076_27008077CA>AG	ENST00000215939.2	-	3	388_389	c.258_259TG>CT	c.(256-261)cgTGgc>cgCTgc	p.G87C		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	87	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						CGGTCGAAGCCACGGTCTGCCA	0.594																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS13840.1	22q12.1	2008-06-10			ENSG00000100122	ENSG00000100122			2397	protein-coding gene	gene with protein product		600929				8575764, 12360425	Standard	NM_001887		Approved		uc003acy.1	P53674	OTTHUMG00000150980	ENST00000215939.2:c.258_259delinsAG	22.37:g.27008076_27008077delinsAG	ENSP00000215939:p.Gly87Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation|Silent	SNP	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.G87C|p.R86	ENST00000215939.2	37	c.259|c.258	CCDS13840.1	22																																																																																			CRYBB1	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin	ENSG00000100122		0.594	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYBB1	HGNC	protein_coding	OTTHUMT00000320767.1	230|227	0.00	0	C|A	NM_001887		27008076|27008077	27008076|27008077	-1	no_errors	ENST00000215939	ensembl	human	known	69_37n	missense|silent	160|161	19.60|19.10	39|38	SNP	0.997|0.339	A|G
EGFLAM	133584	genome.wustl.edu	37	5	38407032	38407032	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr5:38407032C>G	ENST00000354891.3	+	8	1277	c.931C>G	c.(931-933)Cct>Gct	p.P311A	EGFLAM_ENST00000322350.5_Missense_Mutation_p.P311A|EGFLAM_ENST00000336740.6_Missense_Mutation_p.P77A|EGFLAM_ENST00000397202.2_Intron	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	311					extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GCTCATCCCCCCTACCTCAGC	0.478																																					Colon(62;485 1295 3347 17454)	dbGAP											0													158.0	149.0	152.0					5																	38407032		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.931C>G	5.37:g.38407032C>G	ENSP00000346964:p.Pro311Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G	p.P311A	ENST00000354891.3	37	c.931	CCDS56363.1	5	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449608	0.43531	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000339580	T;T;T	0.78707	0.92;0.75;-1.2	5.69	1.6	0.23607	.	0.351137	0.33023	N	0.005377	T	0.64427	0.2597	M	0.67953	2.075	0.19945	N	0.999949	B;B;B	0.31077	0.102;0.204;0.307	B;B;B	0.26969	0.031;0.034;0.075	T	0.45891	-0.9230	10	0.16896	T	0.51	-23.205	1.0031	0.01481	0.3825:0.2867:0.1193:0.2116	.	77;311;311	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	A	311;311;77;77	ENSP00000346964:P311A;ENSP00000313084:P311A;ENSP00000337607:P77A	ENSP00000313084:P311A	P	+	1	0	EGFLAM	38442789	0.000000	0.05858	0.002000	0.10522	0.548000	0.35241	-0.192000	0.09587	0.301000	0.22738	0.655000	0.94253	CCT	EGFLAM	-	NULL	ENSG00000164318		0.478	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	EGFLAM	HGNC	protein_coding	OTTHUMT00000367323.1	127	0.00	0	C	NM_152403		38407032	38407032	+1	no_errors	ENST00000354891	ensembl	human	known	69_37n	missense	136	17.07	28	SNP	0.002	G
ERCC5	2073	genome.wustl.edu	37	13	103504559	103504559	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr13:103504559T>G	ENST00000355739.4	+	2	1603	c.180T>G	c.(178-180)caT>caG	p.H60Q	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.S486A|ERCC5_ENST00000535557.1_Missense_Mutation_p.H60Q	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	60	N-domain.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CTTTGTTTCATCGGCTCTGCA	0.398			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													dbGAP	yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""		E	0													163.0	161.0	162.0					13																	103504559		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.180T>G	13.37:g.103504559T>G	ENSP00000347978:p.His60Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	pfam_XPG_DNA_repair_N,pfam_XPG/RAD2_endonuclease,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_DNA_repair,prints_XPGC_Rad_DNA_repair,tigrfam_XPGC_DNA_repair	p.H60Q	ENST00000355739.4	37	c.180	CCDS32004.1	13	.	.	.	.	.	.	.	.	.	.	T	20.3	3.958688	0.74016	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000535557	T;T	0.62941	-0.01;-0.01	5.39	1.67	0.24075	XPG N-terminal (2);	0.054078	0.64402	D	0.000001	T	0.71558	0.3354	M	0.67700	2.07	0.58432	D	0.99999	P;D;D	0.76494	0.754;0.993;0.999	P;D;D	0.69824	0.857;0.953;0.966	T	0.67562	-0.5639	10	0.49607	T	0.09	-23.2288	8.0295	0.30457	0.0:0.3134:0.0:0.6866	.	60;60;485	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	Q	485;60;60	ENSP00000347978:H60Q;ENSP00000442117:H60Q	ENSP00000347978:H60Q	H	+	3	2	ERCC5	102302560	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	1.555000	0.36277	0.062000	0.16340	0.472000	0.43445	CAT	ERCC5	-	pfam_XPG_DNA_repair_N,smart_XPG_DNA_repair_N,prints_XPGC_DNA_repair,tigrfam_XPGC_DNA_repair	ENSG00000134899		0.398	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ERCC5	HGNC	protein_coding	OTTHUMT00000045708.1	259	0.00	0	T			103504559	103504559	+1	no_errors	ENST00000355739	ensembl	human	known	69_37n	missense	123	25.30	42	SNP	1.000	G
ESRRG	2104	genome.wustl.edu	37	1	216737742	216737742	+	Intron	SNP	C	C	T			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr1:216737742C>T	ENST00000408911.3	-	5	854				ESRRG_ENST00000361525.3_Intron|ESRRG_ENST00000493748.1_Intron|ESRRG_ENST00000391890.3_Splice_Site_p.L211L|ESRRG_ENST00000493603.1_Intron|ESRRG_ENST00000361395.2_Intron|ESRRG_ENST00000366937.1_Splice_Site_p.L239L|ESRRG_ENST00000366938.2_Intron|ESRRG_ENST00000360012.3_Intron|ESRRG_ENST00000359162.2_Intron|ESRRG_ENST00000366940.2_Intron|ESRRG_ENST00000487276.1_Intron|ESRRG_ENST00000463665.1_Intron	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma						gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CAGACCAGAGCACTACAAGAT	0.408																																						dbGAP											0													102.0	89.0	93.0					1																	216737742		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.701-20G>A	1.37:g.216737742C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.L211	ENST00000408911.3	37	c.633	CCDS41468.1	1																																																																																			ESRRG	-	superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000196482		0.408	ESRRG-001	KNOWN	basic|CCDS	protein_coding	ESRRG	HGNC	protein_coding	OTTHUMT00000089882.2	97	0.00	0	C	NM_206595		216737742	216737742	-1	no_errors	ENST00000391890	ensembl	human	known	69_37n	silent	81	33.06	40	SNP	1.000	T
FAM171A1	221061	genome.wustl.edu	37	10	15256542	15256543	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr10:15256542_15256543insTG	ENST00000378116.4	-	8	1050_1051	c.1044_1045insCA	c.(1042-1047)ctggagfs	p.E349fs	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	349						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TTGGAACTCTCCAGTCCTGCAG	0.525																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.1044_1045insCA	10.37:g.15256542_15256543insTG	ENSP00000367356:p.Glu349fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRT9|Q32M49|Q8N4I0	Frame_Shift_Ins	INS	pfam_Uncharacterised_FAM171	p.E348fs	ENST00000378116.4	37	c.1045_1044	CCDS31154.1	10																																																																																			FAM171A1	-	pfam_Uncharacterised_FAM171	ENSG00000148468		0.525	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171A1	HGNC	protein_coding	OTTHUMT00000046984.1	59	0.00	0	-	XM_167709		15256542	15256543	-1	no_errors	ENST00000378116	ensembl	human	known	69_37n	frame_shift_ins	54	52.21	59	INS	0.999:0.486	TG
FAT2	2196	genome.wustl.edu	37	5	150947878	150947878	+	Silent	SNP	C	C	T			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr5:150947878C>T	ENST00000261800.5	-	1	627	c.615G>A	c.(613-615)gtG>gtA	p.V205V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	205	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTTCCCAGCCACAGTGACCA	0.537																																						dbGAP											0													82.0	74.0	77.0					5																	150947878		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.615G>A	5.37:g.150947878C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O75091|Q9NSR7	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.V205	ENST00000261800.5	37	c.615	CCDS4317.1	5																																																																																			FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000086570		0.537	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	79	0.00	0	C	NM_001447		150947878	150947878	-1	no_errors	ENST00000261800	ensembl	human	known	69_37n	silent	72	25.77	25	SNP	0.622	T
FBXO8	26269	genome.wustl.edu	37	4	175184103	175184103	+	Silent	SNP	G	G	T			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr4:175184103G>T	ENST00000393674.2	-	2	1003	c.141C>A	c.(139-141)gtC>gtA	p.V47V	FBXO8_ENST00000503293.1_Silent_p.V47V	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN	F-box protein 8	47					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell junction (GO:0030054)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		TGCCTCCTTGGACTTGTTTAC	0.433																																						dbGAP											0													257.0	229.0	238.0					4																	175184103		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF174596	CCDS3820.1	4q34.1	2008-02-05	2004-06-15			ENSG00000164117		"""F-boxes /  ""other"""""	13587	protein-coding gene	gene with protein product		605649	"""F-box only protein 8"""			10531035, 10531037	Standard	NM_012180		Approved	FBX8, FBS	uc003itp.3	Q9NRD0		ENST00000393674.2:c.141C>A	4.37:g.175184103G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB40|D3DP41|G5E9Z0|Q6UWN4|Q8IWE1|Q9NRP5|Q9UKC4	Silent	SNP	pfam_Sec7,superfamily_Sec7,superfamily_F-box_dom_cyclin-like,smart_Sec7,pfscan_F-box_dom_cyclin-like,pfscan_Sec7	p.V47	ENST00000393674.2	37	c.141	CCDS3820.1	4																																																																																			FBXO8	-	NULL	ENSG00000164117		0.433	FBXO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO8	HGNC	protein_coding	OTTHUMT00000362085.2	214	0.00	0	G	NM_012180		175184103	175184103	-1	no_errors	ENST00000393674	ensembl	human	known	69_37n	silent	138	31.68	64	SNP	1.000	T
FRG1B	284802	genome.wustl.edu	37	20	29612363	29612363	+	Intron	SNP	G	G	C	rs75773727	byFrequency	TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr20:29612363G>C	ENST00000278882.3	+	1	257				FRG1B_ENST00000358464.4_Intron|FRG1B_ENST00000439954.2_Intron|FRG1B_ENST00000468180.2_Intron			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CCACGAGTTTGGGTCCCCTGA	0.562																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0					20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.-124+250G>C	20.37:g.29612363G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	C4AME5	RNA	SNP	-	NULL	ENST00000278882.3	37	NULL		20																																																																																			FRG1B	-	-	ENSG00000149531		0.562	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	FRG1B	HGNC	protein_coding	OTTHUMT00000078494.2	12	0.00	0	G	NR_003579		29612363	29612363	+1	no_errors	ENST00000482423	ensembl	human	known	69_37n	rna	4	50.00	4	SNP	0.000	C
GADL1	339896	genome.wustl.edu	37	3	30769808	30769808	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr3:30769808T>A	ENST00000282538.5	-	15	1642	c.1492A>T	c.(1492-1494)Atc>Ttc	p.I498F	GADL1_ENST00000498387.1_5'UTR	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	498					carboxylic acid metabolic process (GO:0019752)		aspartate 1-decarboxylase activity (GO:0004068)|pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						TGAGGGCTGATCACCACCTGG	0.562																																						dbGAP											0													128.0	117.0	121.0					3																	30769808		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK128643	CCDS2649.2	3p23-p22	2009-01-14			ENSG00000144644	ENSG00000144644			27949	protein-coding gene	gene with protein product		615601					Standard	NM_207359		Approved		uc003cep.2	Q6ZQY3	OTTHUMG00000130621	ENST00000282538.5:c.1492A>T	3.37:g.30769808T>A	ENSP00000282538:p.Ile498Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom	p.I498F	ENST00000282538.5	37	c.1492	CCDS2649.2	3	.	.	.	.	.	.	.	.	.	.	T	15.90	2.968514	0.53614	.	.	ENSG00000144644	ENST00000282538	T	0.38240	1.15	5.91	5.91	0.95273	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.135040	0.49305	D	0.000144	T	0.33089	0.0851	L	0.36672	1.1	0.80722	D	1	B	0.11235	0.004	B	0.10450	0.005	T	0.05241	-1.0897	10	0.54805	T	0.06	-0.9821	16.3378	0.83071	0.0:0.0:0.0:1.0	.	498	Q6ZQY3	GADL1_HUMAN	F	498	ENSP00000282538:I498F	ENSP00000282538:I498F	I	-	1	0	GADL1	30744812	0.994000	0.37717	1.000000	0.80357	0.994000	0.84299	2.018000	0.40991	2.255000	0.74692	0.533000	0.62120	ATC	GADL1	-	superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000144644		0.562	GADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GADL1	HGNC	protein_coding	OTTHUMT00000253106.2	142	0.00	0	T	NM_207359		30769808	30769808	-1	no_errors	ENST00000282538	ensembl	human	known	69_37n	missense	74	35.34	41	SNP	1.000	A
HELZ	9931	genome.wustl.edu	37	17	65074482	65074482	+	Silent	SNP	C	C	T			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr17:65074482C>T	ENST00000358691.5	-	33	5881	c.5715G>A	c.(5713-5715)aaG>aaA	p.K1905K	HELZ_ENST00000580168.1_Silent_p.K1906K	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1905						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GGGGCCTGGGCTTTGGAGGGG	0.622																																						dbGAP											0													46.0	50.0	49.0					17																	65074482		1881	4091	5972	-	-	-	SO:0001819	synonymous_variant	0			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.5715G>A	17.37:g.65074482C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	I6L9H4	Silent	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.K1905	ENST00000358691.5	37	c.5715	CCDS42374.1	17																																																																																			HELZ	-	NULL	ENSG00000198265		0.622	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HELZ	HGNC	protein_coding	OTTHUMT00000447068.1	102	0.96	1	C	NM_014877		65074482	65074482	-1	no_errors	ENST00000358691	ensembl	human	known	69_37n	silent	143	11.59	19	SNP	1.000	T
HKDC1	80201	genome.wustl.edu	37	10	70992551	70992552	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr10:70992551_70992552insG	ENST00000354624.5	+	3	391_392	c.258_259insG	c.(259-261)gggfs	p.G87fs	HKDC1_ENST00000395086.2_Frame_Shift_Ins_p.G87fs|RP11-227H15.4_ENST00000450995.1_RNA	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	87	Hexokinase type-1 1.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TGGATCTCGGAGGGTCCAAGTT	0.475																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.261dupG	10.37:g.70992554_70992554dupG	ENSP00000346643:p.Gly87fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Frame_Shift_Ins	INS	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.S87fs	ENST00000354624.5	37	c.258_259	CCDS7288.1	10																																																																																			HKDC1	-	pfam_Hexokinase_N	ENSG00000156510		0.475	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HKDC1	HGNC	protein_coding	OTTHUMT00000048389.1	80	0.00	0	-	NM_025130		70992551	70992552	+1	no_errors	ENST00000354624	ensembl	human	known	69_37n	frame_shift_ins	40	14.89	7	INS	0.996:1.000	G
HMCN1	83872	genome.wustl.edu	37	1	185964013	185964013	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr1:185964013C>T	ENST00000271588.4	+	24	3801	c.3572C>T	c.(3571-3573)cCa>cTa	p.P1191L	HMCN1_ENST00000367492.2_Missense_Mutation_p.P1191L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1191	Ig-like C2-type 9.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTGGATATTCCATGTAATGCT	0.433																																						dbGAP											0													133.0	126.0	128.0					1																	185964013		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.3572C>T	1.37:g.185964013C>T	ENSP00000271588:p.Pro1191Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.P1191L	ENST00000271588.4	37	c.3572	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.019308	0.35606	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66460	-0.21;-0.21	5.35	2.41	0.29592	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.207947	0.51477	N	0.000086	T	0.57504	0.2058	L	0.50333	1.59	0.53005	D	0.999967	B	0.09022	0.002	B	0.15870	0.014	T	0.49214	-0.8963	10	0.27785	T	0.31	.	11.4982	0.50422	0.0:0.7996:0.0:0.2004	.	1191	Q96RW7	HMCN1_HUMAN	L	1191	ENSP00000271588:P1191L;ENSP00000356462:P1191L	ENSP00000271588:P1191L	P	+	2	0	HMCN1	184230636	0.637000	0.27216	0.132000	0.22025	0.658000	0.38924	2.263000	0.43293	0.311000	0.23014	-0.157000	0.13467	CCA	HMCN1	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000143341		0.433	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	117	0.00	0	C	NM_031935		185964013	185964013	+1	no_errors	ENST00000271588	ensembl	human	known	69_37n	missense	99	11.61	13	SNP	0.970	T
HMCN1	83872	genome.wustl.edu	37	1	185985185	185985185	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr1:185985185C>A	ENST00000271588.4	+	32	5234	c.5005C>A	c.(5005-5007)Cct>Act	p.P1669T	HMCN1_ENST00000367492.2_Missense_Mutation_p.P1669T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1669	Ig-like C2-type 14.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGCTGGAAACCCTTCTCCCAT	0.458																																						dbGAP											0													106.0	99.0	101.0					1																	185985185		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.5005C>A	1.37:g.185985185C>A	ENSP00000271588:p.Pro1669Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.P1669T	ENST00000271588.4	37	c.5005	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413769	0.83449	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.80566	-1.39;-1.39	5.87	5.87	0.94306	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94699	0.8290	H	0.98786	4.33	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95901	0.8915	10	0.72032	D	0.01	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	1669	Q96RW7	HMCN1_HUMAN	T	1669	ENSP00000271588:P1669T;ENSP00000356462:P1669T	ENSP00000271588:P1669T	P	+	1	0	HMCN1	184251808	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	7.150000	0.77403	2.941000	0.99782	0.655000	0.94253	CCT	HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000143341		0.458	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	123	0.00	0	C	NM_031935		185985185	185985185	+1	no_errors	ENST00000271588	ensembl	human	known	69_37n	missense	125	10.71	15	SNP	1.000	A
IDI1	3422	genome.wustl.edu	37	10	1087317	1087317	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr10:1087317G>T	ENST00000381344.3	-	5	831	c.665C>A	c.(664-666)cCc>cAc	p.P222H	IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000420381.1_RNA|RNU7-163P_ENST00000459467.1_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000437374.1_RNA	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	165					cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isoprenoid biosynthetic process (GO:0008299)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		AATCTCATTGGGATCTGGATT	0.358																																						dbGAP											0													95.0	95.0	95.0					10																	1087317		2203	4298	6501	-	-	-	SO:0001583	missense	0			BC006999	CCDS7056.1	10p15.3	2003-11-12	2005-07-25		ENSG00000067064	ENSG00000067064	5.3.3.2		5387	protein-coding gene	gene with protein product	"""IPP isomerase"""	604055	"""isopentenyl-diphosphate delta isomerase"""			8020941	Standard	NM_004508		Approved		uc001iga.3	Q13907	OTTHUMG00000017536	ENST00000381344.3:c.665C>A	10.37:g.1087317G>T	ENSP00000370748:p.Pro222His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E155|Q32Q13|Q53GQ6|Q86U81|Q8WUX8|Q96IZ4|Q9BQ74	Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1	p.P222H	ENST00000381344.3	37	c.665	CCDS7056.1	10	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466745	0.84425	.	.	ENSG00000067064	ENST00000381344	T	0.08984	3.03	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.48857	0.1523	H	0.97874	4.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67397	-0.5681	10	0.72032	D	0.01	-6.0888	20.2699	0.98469	0.0:0.0:1.0:0.0	.	222	Q13907-2	.	H	222	ENSP00000370748:P222H	ENSP00000370748:P222H	P	-	2	0	IDI1	1077317	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	9.066000	0.93949	2.854000	0.98071	0.655000	0.94253	CCC	IDI1	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1	ENSG00000067064		0.358	IDI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	IDI1	HGNC	protein_coding	OTTHUMT00000046409.2	147	0.00	0	G	NM_004508		1087317	1087317	-1	no_errors	ENST00000381344	ensembl	human	known	69_37n	missense	88	17.76	19	SNP	1.000	T
LRPPRC	10128	genome.wustl.edu	37	2	44176743	44176743	+	Missense_Mutation	SNP	G	G	A	rs74358992		TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr2:44176743G>A	ENST00000260665.7	-	16	1790	c.1733C>T	c.(1732-1734)aCg>aTg	p.T578M		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	578					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AACGCTACCCGTCGGTCCTCG	0.393																																						dbGAP											0													75.0	65.0	69.0					2																	44176743		2203	4300	6503	-	-	-	SO:0001583	missense	0			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.1733C>T	2.37:g.44176743G>A	ENSP00000260665:p.Thr578Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.T578M	ENST00000260665.7	37	c.1733	CCDS33189.1	2	.	.	.	.	.	.	.	.	.	.	G	14.72	2.621033	0.46736	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.57107	0.42	5.77	3.89	0.44902	.	0.357409	0.32106	N	0.006561	T	0.61160	0.2325	M	0.73598	2.24	0.80722	D	1	D;D	0.76494	0.987;0.999	P;P	0.53689	0.686;0.732	T	0.59490	-0.7445	10	0.33141	T	0.24	-8.9608	10.4873	0.44731	0.0:0.1307:0.5982:0.2711	.	478;578	F5H4J6;P42704	.;LPPRC_HUMAN	M	478;578	ENSP00000260665:T578M	ENSP00000260665:T578M	T	-	2	0	LRPPRC	44030247	1.000000	0.71417	0.993000	0.49108	0.978000	0.69477	0.575000	0.23729	0.708000	0.31955	0.655000	0.94253	ACG	LRPPRC	-	NULL	ENSG00000138095		0.393	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	HGNC	protein_coding	OTTHUMT00000327823.1	68	0.00	0	G	NM_133259		44176743	44176743	-1	no_errors	ENST00000260665	ensembl	human	known	69_37n	missense	56	12.50	8	SNP	1.000	A
LRRC16B	90668	genome.wustl.edu	37	14	24525586	24525586	+	Silent	SNP	C	C	T			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr14:24525586C>T	ENST00000342740.5	+	11	1003	c.849C>T	c.(847-849)aaC>aaT	p.N283N	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	283						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TGTCCCACAACCCCATCGAGG	0.612																																						dbGAP											0													103.0	77.0	86.0					14																	24525586		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.849C>T	14.37:g.24525586C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TEF7|Q96HS9	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.N283	ENST00000342740.5	37	c.849	CCDS32054.1	14																																																																																			LRRC16B	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000186648		0.612	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRC16B	HGNC	protein_coding	OTTHUMT00000416527.1	21	0.00	0	C	NM_138360		24525586	24525586	+1	no_errors	ENST00000342740	ensembl	human	known	69_37n	silent	10	41.18	7	SNP	1.000	T
MACF1	23499	genome.wustl.edu	37	1	39888058	39888058	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr1:39888058G>C	ENST00000372915.3	+	58	15931	c.15844G>C	c.(15844-15846)Gaa>Caa	p.E5282Q	MACF1_ENST00000564288.1_Missense_Mutation_p.E5277Q|MACF1_ENST00000539005.1_Missense_Mutation_p.E3194Q|MACF1_ENST00000317713.7_Missense_Mutation_p.E3215Q|MACF1_ENST00000289893.4_Missense_Mutation_p.E3717Q|MACF1_ENST00000545844.1_Missense_Mutation_p.E3215Q|MACF1_ENST00000361689.2_Missense_Mutation_p.E3215Q|MACF1_ENST00000567887.1_Missense_Mutation_p.E5314Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5282					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTTTCAGAAAGAACAAGTGGA	0.398																																						dbGAP											0													83.0	83.0	83.0					1																	39888058		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.15844G>C	1.37:g.39888058G>C	ENSP00000362006:p.Glu5282Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.E3215Q	ENST00000372915.3	37	c.9643		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	30|30	5.056644|5.056644	0.93793|0.93793	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000482035|ENST00000372925	T;T;T;T;T;T;T|.	0.57595|.	0.39;0.39;0.39;0.39;0.39;0.39;0.39|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	0.099447|.	0.43579|.	D|.	0.000548|.	D|D	0.82632|0.82632	0.5079|0.5079	M|M	0.83692|0.83692	2.655|2.655	0.80722|0.80722	D|D	1|1	D;P;D|.	0.63046|.	0.992;0.889;0.983|.	P;P;P|.	0.60609|.	0.833;0.812;0.877|.	T|T	0.83249|0.83249	-0.0054|-0.0054	10|5	0.66056|.	D|.	0.02|.	.|.	19.5983|19.5983	0.95549|0.95549	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	5282;3215;3159|.	Q9UPN3;F8W8Q1;Q9UPN3-3|.	MACF1_HUMAN;.;.|.	Q|T	3215;5282;3215;3215;3194;3717;31|2327	ENSP00000439537:E3215Q;ENSP00000362006:E5282Q;ENSP00000354573:E3215Q;ENSP00000313438:E3215Q;ENSP00000444364:E3194Q;ENSP00000289893:E3717Q;ENSP00000433104:E31Q|.	ENSP00000289893:E3717Q|.	E|R	+|+	1|2	0|0	MACF1|MACF1	39660645|39660645	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.690000|9.690000	0.98676|0.98676	2.704000|2.704000	0.92352|0.92352	0.650000|0.650000	0.86243|0.86243	GAA|AGA	MACF1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000127603		0.398	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	148	0.00	0	G	NM_033044		39888058	39888058	+1	no_errors	ENST00000317713	ensembl	human	known	69_37n	missense	117	13.87	19	SNP	1.000	C
MAN2A2	4122	genome.wustl.edu	37	15	91455336	91455338	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	GAT	GAT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr15:91455336_91455338delGAT	ENST00000559717.1	+	15	2632_2634	c.2173_2175delGAT	c.(2173-2175)gatdel	p.D725del	MAN2A2_ENST00000430376.2_5'Flank|MAN2A2_ENST00000360468.3_In_Frame_Del_p.D725del|MAN2A2_ENST00000431652.2_In_Frame_Del_p.D233del			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	725					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GCTGGGCCTGGATGGGCACCGCA	0.675																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.2173_2175delGAT	15.37:g.91455336_91455338delGAT	ENSP00000452948:p.Asp725del	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NH12|A8K1E8|Q13754	In_Frame_Del	DEL	pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.D725in_frame_del	ENST00000559717.1	37	c.2173_2175	CCDS32332.1	15																																																																																			MAN2A2	-	pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd	ENSG00000196547		0.675	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2A2	HGNC	protein_coding	OTTHUMT00000418246.5	18	0.00	0	GAT	NM_006122		91455336	91455338	+1	no_errors	ENST00000360468	ensembl	human	known	69_37n	in_frame_del	24	55.56	30	DEL	0.996:0.984:0.002	-
MAN2A2	4122	genome.wustl.edu	37	15	91455349	91455349	+	Frame_Shift_Del	DEL	C	C	-	rs138188731	byFrequency	TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr15:91455349delC	ENST00000559717.1	+	15	2645	c.2186delC	c.(2185-2187)acgfs	p.T729fs	MAN2A2_ENST00000430376.2_5'Flank|MAN2A2_ENST00000360468.3_Frame_Shift_Del_p.T729fs|MAN2A2_ENST00000431652.2_Frame_Shift_Del_p.T237fs			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	729					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGGCACCGCACGCTGCCCTCC	0.672																																						dbGAP											0													63.0	60.0	61.0					15																	91455349		2198	4298	6496	-	-	-	SO:0001589	frameshift_variant	0			L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.2186delC	15.37:g.91455349delC	ENSP00000452948:p.Thr729fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NH12|A8K1E8|Q13754	Frame_Shift_Del	DEL	pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.T729fs	ENST00000559717.1	37	c.2186	CCDS32332.1	15																																																																																			MAN2A2	-	pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd	ENSG00000196547		0.672	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2A2	HGNC	protein_coding	OTTHUMT00000418246.5	21	0.00	0	C	NM_006122		91455349	91455349	+1	no_errors	ENST00000360468	ensembl	human	known	69_37n	frame_shift_del	25	54.55	30	DEL	0.757	-
MCRS1	10445	genome.wustl.edu	37	12	49956786	49956786	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr12:49956786G>C	ENST00000550165.1	-	9	1069	c.803C>G	c.(802-804)aCa>aGa	p.T268R	MCRS1_ENST00000357123.4_Missense_Mutation_p.T281R|MCRS1_ENST00000343810.4_Missense_Mutation_p.T268R|MCRS1_ENST00000547182.1_5'UTR|MCRS1_ENST00000546244.1_Missense_Mutation_p.T77R			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	268					cellular protein modification process (GO:0006464)|chromatin organization (GO:0006325)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						GGCGTTACCTGTCTGGTCCTC	0.587																																						dbGAP											0													45.0	36.0	39.0					12																	49956786		2203	4298	6501	-	-	-	SO:0001583	missense	0			BC011794	CCDS8787.1, CCDS31795.1, CCDS61118.1	12q13.12	2011-07-06				ENSG00000187778		"""INO80 complex subunits"""	6960	protein-coding gene	gene with protein product	"""INO80 complex subunit Q"""	609504				9765390, 9654073	Standard	NM_006337		Approved	ICP22BP, MSP58, P78, MCRS2, INO80Q	uc001rui.1	Q96EZ8		ENST00000550165.1:c.803C>G	12.37:g.49956786G>C	ENSP00000448056:p.Thr268Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	O14742|O75497|Q6VN53|Q7Z372	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.T281R	ENST00000550165.1	37	c.842	CCDS8787.1	12	.	.	.	.	.	.	.	.	.	.	G	19.55	3.848843	0.71603	.	.	ENSG00000187778	ENST00000546244;ENST00000343810;ENST00000550165;ENST00000357123;ENST00000553173	.	.	.	5.64	5.64	0.86602	.	0.086145	0.85682	D	0.000000	T	0.66723	0.2818	L	0.47716	1.5	0.53005	D	0.999967	P;P;P	0.51351	0.944;0.642;0.887	P;B;P	0.56042	0.79;0.305;0.668	T	0.68372	-0.5426	9	0.72032	D	0.01	-8.7582	17.2003	0.86904	0.0:0.0:1.0:0.0	.	255;268;281	F8W126;Q96EZ8;Q96EZ8-2	.;MCRS1_HUMAN;.	R	77;268;268;281;255	.	ENSP00000345358:T268R	T	-	2	0	MCRS1	48243053	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.847000	0.69451	2.662000	0.90505	0.555000	0.69702	ACA	MCRS1	-	NULL	ENSG00000187778		0.587	MCRS1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MCRS1	HGNC	protein_coding	OTTHUMT00000405102.1	14	0.00	0	G	NM_006337		49956786	49956786	-1	no_errors	ENST00000357123	ensembl	human	known	69_37n	missense	18	30.77	8	SNP	1.000	C
MYH7	4625	genome.wustl.edu	37	14	23886884	23886884	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr14:23886884G>A	ENST00000355349.3	-	31	4343	c.4181C>T	c.(4180-4182)gCc>gTc	p.A1394V	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1394					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CAGCCGCTGGGCCAGCTTCTT	0.587																																						dbGAP											0													35.0	37.0	37.0					14																	23886884		2203	4300	6503	-	-	-	SO:0001583	missense	0			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4181C>T	14.37:g.23886884G>A	ENSP00000347507:p.Ala1394Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A1394V	ENST00000355349.3	37	c.4181	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761445	0.89932	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.78707	-1.2	4.99	4.99	0.66335	Myosin tail (1);	.	.	.	.	T	0.78207	0.4247	L	0.55017	1.72	0.80722	D	1	B	0.25351	0.124	B	0.34385	0.181	T	0.75494	-0.3298	9	0.45353	T	0.12	.	18.4708	0.90774	0.0:0.0:1.0:0.0	.	1394	P12883	MYH7_HUMAN	V	1394;1399	ENSP00000347507:A1394V	ENSP00000347507:A1394V	A	-	2	0	MYH7	22956724	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	6.213000	0.72194	2.609000	0.88269	0.561000	0.74099	GCC	MYH7	-	pfam_Myosin_tail,superfamily_Prefoldin	ENSG00000092054		0.587	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	36	0.00	0	G	NM_000257		23886884	23886884	-1	no_errors	ENST00000355349	ensembl	human	known	69_37n	missense	28	52.54	31	SNP	1.000	A
MYT1L	23040	genome.wustl.edu	37	2	1812867	1812867	+	Silent	SNP	G	G	A			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr2:1812867G>A	ENST00000399161.2	-	22	3900	c.3153C>T	c.(3151-3153)atC>atT	p.I1051I	MYT1L_ENST00000428368.2_Silent_p.I1049I|MYT1L_ENST00000407844.1_Silent_p.I47I	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1051					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CCCGCTGTTTGATGGTCAGCA	0.602																																						dbGAP											0													107.0	114.0	112.0					2																	1812867		2142	4253	6395	-	-	-	SO:0001819	synonymous_variant	0			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.3153C>T	2.37:g.1812867G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.I1051	ENST00000399161.2	37	c.3153		2																																																																																			MYT1L	-	NULL	ENSG00000186487		0.602	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	HGNC	protein_coding	OTTHUMT00000322493.1	65	0.00	0	G	NM_015025		1812867	1812867	-1	no_errors	ENST00000399161	ensembl	human	known	69_37n	silent	72	17.98	16	SNP	1.000	A
NBR1	4077	genome.wustl.edu	37	17	41355736	41355737	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr17:41355736_41355737insG	ENST00000422280.1	+	20	3119_3120	c.2660_2661insG	c.(2659-2664)aaggggfs	p.KG887fs	NBR1_ENST00000341165.6_Frame_Shift_Ins_p.KG887fs|NBR1_ENST00000589872.1_Frame_Shift_Ins_p.KG887fs|NBR1_ENST00000542611.1_Intron|NBR1_ENST00000590996.1_Frame_Shift_Ins_p.KG887fs|NBR1_ENST00000389312.4_Frame_Shift_Ins_p.KG887fs	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	887					macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		GGACTGGTGAAGGGGGCTTTGT	0.47																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"""membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"""	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.2665dupG	17.37:g.41355741_41355741dupG	ENSP00000411250:p.Lys887fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Frame_Shift_Ins	INS	pfam_OPR_PB1,pfam_Znf_ZZ,superfamily_UBA-like,smart_OPR_PB1,smart_Znf_ZZ,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_ZZ	p.A889fs	ENST00000422280.1	37	c.2660_2661	CCDS45694.1	17																																																																																			NBR1	-	NULL	ENSG00000188554		0.470	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBR1	HGNC	protein_coding	OTTHUMT00000453461.1	12	0.00	0	-	NM_005899		41355736	41355737	+1	no_errors	ENST00000341165	ensembl	human	known	69_37n	frame_shift_ins	8	20.00	2	INS	1.000:0.968	G
NUP210L	91181	genome.wustl.edu	37	1	153991518	153991518	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr1:153991518G>C	ENST00000368559.3	-	33	4615	c.4544C>G	c.(4543-4545)gCc>gGc	p.A1515G	NUP210L_ENST00000368553.1_Missense_Mutation_p.A448G|NUP210L_ENST00000271854.3_Missense_Mutation_p.A1515G	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1515					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AATATTGTTGGCAGAAATCAT	0.428																																						dbGAP											0													74.0	70.0	71.0					1																	153991518		1872	4129	6001	-	-	-	SO:0001583	missense	0			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.4544C>G	1.37:g.153991518G>C	ENSP00000357547:p.Ala1515Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2	p.A1515G	ENST00000368559.3	37	c.4544	CCDS41399.1	1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.170425	0.38315	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	T;T;T	0.24350	3.46;1.86;3.2	5.61	4.68	0.58851	.	0.459735	0.20474	N	0.091634	T	0.09862	0.0242	L	0.55990	1.75	0.09310	N	1	P;P	0.38922	0.651;0.501	B;B	0.27608	0.081;0.081	T	0.05835	-1.0861	10	0.37606	T	0.19	-5.3289	13.6867	0.62520	0.0:0.0:0.8453:0.1547	.	1515;1515	E7EP56;Q5VU65	.;P210L_HUMAN	G	1515;448;1515	ENSP00000357547:A1515G;ENSP00000357541:A448G;ENSP00000271854:A1515G	ENSP00000271854:A1515G	A	-	2	0	NUP210L	152258142	0.913000	0.31002	0.067000	0.19924	0.660000	0.38997	5.800000	0.69108	1.320000	0.45209	0.655000	0.94253	GCC	NUP210L	-	NULL	ENSG00000143552		0.428	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP210L	HGNC	protein_coding	OTTHUMT00000087270.3	127	0.00	0	G	NM_207308		153991518	153991518	-1	no_errors	ENST00000368559	ensembl	human	known	69_37n	missense	106	13.82	17	SNP	0.049	C
PCDH10	57575	genome.wustl.edu	37	4	134072575	134072575	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr4:134072575delA	ENST00000264360.5	+	1	2106	c.1280delA	c.(1279-1281)gacfs	p.D427fs	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	427	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GAGGCGGGGGACTCCTACACC	0.592																																						dbGAP											0													129.0	145.0	140.0					4																	134072575		2199	4299	6498	-	-	-	SO:0001589	frameshift_variant	0			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1280delA	4.37:g.134072575delA	ENSP00000264360:p.Asp427fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5F6|Q96SF0	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D427fs	ENST00000264360.5	37	c.1280	CCDS34063.1	4																																																																																			PCDH10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000138650		0.592	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2	111	0.00	0	A	NM_032961		134072575	134072575	+1	no_errors	ENST00000264360	ensembl	human	known	69_37n	frame_shift_del	114	11.11	16	DEL	1.000	-
PCDHB6	56130	genome.wustl.edu	37	5	140530844	140530844	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr5:140530844C>G	ENST00000231136.1	+	1	1006	c.1006C>G	c.(1006-1008)Ctg>Gtg	p.L336V	PCDHB6_ENST00000543635.1_Missense_Mutation_p.L200V	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	336	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTCAGGGTCCTGGACGTGAA	0.463																																						dbGAP											0													98.0	96.0	96.0					5																	140530844		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1006C>G	5.37:g.140530844C>G	ENSP00000231136:p.Leu336Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8R9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L336V	ENST00000231136.1	37	c.1006	CCDS4248.1	5	.	.	.	.	.	.	.	.	.	.	C	0	-2.815448	0.00073	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.01685	4.69;4.69	4.84	-1.99	0.07457	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.01320	0.0043	L	0.43757	1.38	0.09310	N	1	B	0.13594	0.008	B	0.25405	0.06	T	0.50440	-0.8828	9	0.02654	T	1	.	0.7058	0.00915	0.1935:0.3045:0.2418:0.2602	.	336	Q9Y5E3	PCDB6_HUMAN	V	200;336;121	ENSP00000438466:L200V;ENSP00000231136:L336V	ENSP00000231136:L336V	L	+	1	2	PCDHB6	140511028	0.000000	0.05858	0.081000	0.20488	0.058000	0.15608	-2.895000	0.00707	-0.111000	0.12001	0.549000	0.68633	CTG	PCDHB6	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000113211		0.463	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	HGNC	protein_coding	OTTHUMT00000251818.2	215	0.00	0	C	NM_018939		140530844	140530844	+1	no_errors	ENST00000231136	ensembl	human	known	69_37n	missense	150	22.16	43	SNP	0.000	G
PCDHGB4	8641	genome.wustl.edu	37	5	140769020	140769020	+	Silent	SNP	G	G	T			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr5:140769020G>T	ENST00000519479.1	+	1	1569	c.1569G>T	c.(1567-1569)ctG>ctT	p.L523L	PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	523	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGAGCAGCTGCGCGCCTTCG	0.667																																						dbGAP											0													41.0	47.0	45.0					5																	140769020		2050	4187	6237	-	-	-	SO:0001819	synonymous_variant	0			AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1569G>T	5.37:g.140769020G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O15099|Q2M267|Q9UN64	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L523	ENST00000519479.1	37	c.1569	CCDS54928.1	5																																																																																			PCDHGB4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000253953		0.667	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB4	HGNC	protein_coding	OTTHUMT00000374745.1	44	0.00	0	G	NM_003736		140769020	140769020	+1	no_errors	ENST00000519479	ensembl	human	known	69_37n	silent	55	16.67	11	SNP	1.000	T
PLA2R1	22925	genome.wustl.edu	37	2	160885378	160885378	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr2:160885378T>C	ENST00000283243.7	-	5	1144	c.938A>G	c.(937-939)tAt>tGt	p.Y313C	PLA2R1_ENST00000392771.1_Missense_Mutation_p.Y313C	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	313	C-type lectin 1. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CCAATTCAGATAGTTGAGCGG	0.527																																						dbGAP											0													133.0	103.0	113.0					2																	160885378		2203	4300	6503	-	-	-	SO:0001583	missense	0			U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.938A>G	2.37:g.160885378T>C	ENSP00000283243:p.Tyr313Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.Y313C	ENST00000283243.7	37	c.938	CCDS33309.1	2	.	.	.	.	.	.	.	.	.	.	T	11.24	1.581157	0.28180	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.23348	1.91;1.91	5.83	5.83	0.93111	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.295436	0.33023	N	0.005371	T	0.58892	0.2154	H	0.95816	3.725	0.09310	N	1	D;D;D	0.71674	0.996;0.988;0.998	D;P;P	0.67382	0.951;0.8;0.907	T	0.64732	-0.6338	10	0.66056	D	0.02	.	9.1585	0.37007	0.2588:0.0:0.0:0.7412	.	313;313;313	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	C	313	ENSP00000283243:Y313C;ENSP00000376524:Y313C	ENSP00000283243:Y313C	Y	-	2	0	PLA2R1	160593624	0.503000	0.26115	0.219000	0.23793	0.060000	0.15804	2.336000	0.43938	2.227000	0.72691	0.528000	0.53228	TAT	PLA2R1	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000153246		0.527	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2R1	HGNC	protein_coding	OTTHUMT00000333820.1	65	0.00	0	T			160885378	160885378	-1	no_errors	ENST00000283243	ensembl	human	known	69_37n	missense	51	13.56	8	SNP	0.016	C
PPEF1	5475	genome.wustl.edu	37	X	18822016	18822016	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chrX:18822016G>C	ENST00000361511.4	+	14	1566	c.1072G>C	c.(1072-1074)Gat>Cat	p.D358H	PPEF1_ENST00000544635.1_Missense_Mutation_p.D293H|PPEF1_ENST00000543630.1_Intron|PPEF1_ENST00000359763.6_Missense_Mutation_p.D305H|PPEF1_ENST00000349874.5_Intron	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	358	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					CAAGATTATTGATATTCTGTG	0.393																																						dbGAP											0													119.0	107.0	111.0					X																	18822016		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.1072G>C	X.37:g.18822016G>C	ENSP00000354871:p.Asp358His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,pfam_EF-hand,pfam_PPP_dom,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_Ca-bd,pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_EF_HAND_2,pfscan_IQ_motif_EF-hand-BS,prints_Ser/Thr-sp_prot-phosphatase	p.D358H	ENST00000361511.4	37	c.1072	CCDS14188.1	X	.	.	.	.	.	.	.	.	.	.	G	16.23	3.063357	0.55432	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000544635	T;T;T	0.10005	2.92;2.92;2.92	5.03	3.09	0.35607	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.177118	0.40222	N	0.001156	T	0.42765	0.1217	H	0.96239	3.79	0.80722	D	1	P;D	0.89917	0.793;1.0	B;D	0.72075	0.426;0.976	T	0.57423	-0.7814	10	0.87932	D	0	-21.8237	11.0872	0.48093	0.1823:0.0:0.8177:0.0	.	358;330	O14829;O14829-3	PPE1_HUMAN;.	H	358;305;293	ENSP00000354871:D358H;ENSP00000352806:D305H;ENSP00000441289:D293H	ENSP00000352806:D305H	D	+	1	0	PPEF1	18731937	1.000000	0.71417	0.265000	0.24526	0.937000	0.57800	4.398000	0.59697	1.096000	0.41439	0.594000	0.82650	GAT	PPEF1	-	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr-Pase_EF-hand_contain,prints_Ser/Thr-sp_prot-phosphatase	ENSG00000086717		0.393	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPEF1	HGNC	protein_coding	OTTHUMT00000055953.3	231	0.00	0	G	NM_006240		18822016	18822016	+1	no_errors	ENST00000361511	ensembl	human	known	69_37n	missense	116	16.55	23	SNP	0.958	C
PRKCQ	5588	genome.wustl.edu	37	10	6472861	6472861	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr10:6472861C>T	ENST00000263125.5	-	17	1975	c.1876G>A	c.(1876-1878)Gga>Aga	p.G626R	PRKCQ_ENST00000397176.2_Missense_Mutation_p.G563R|PRKCQ_ENST00000539722.1_Missense_Mutation_p.G501R	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	626	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	CGGATGTCTCCCCTCACGCCC	0.582																																					Ovarian(50;572 1126 10530 25349 30594)	dbGAP											0													89.0	77.0	81.0					10																	6472861		2203	4300	6503	-	-	-	SO:0001583	missense	0			L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.1876G>A	10.37:g.6472861C>T	ENSP00000263125:p.Gly626Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.G626R	ENST00000263125.5	37	c.1876	CCDS7079.1	10	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493396	0.64186	.	.	ENSG00000065675	ENST00000263125;ENST00000397176;ENST00000539722	T;T;T	0.58797	0.31;0.31;0.31	5.23	5.23	0.72850	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.105386	0.64402	D	0.000004	T	0.70334	0.3212	L	0.43152	1.355	0.80722	D	1	B;D;D;D	0.89917	0.24;0.997;1.0;1.0	B;D;D;D	0.87578	0.156;0.958;0.998;0.976	T	0.72381	-0.4311	10	0.62326	D	0.03	.	17.3875	0.87421	0.0:1.0:0.0:0.0	.	501;398;563;626	B4DF52;Q5JUN8;Q04759-2;Q04759	.;.;.;KPCT_HUMAN	R	626;563;501	ENSP00000263125:G626R;ENSP00000380361:G563R;ENSP00000441752:G501R	ENSP00000263125:G626R	G	-	1	0	PRKCQ	6512867	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.275000	0.78548	2.434000	0.82447	0.650000	0.86243	GGA	PRKCQ	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Prot_kin_PKC_delta,pfscan_Prot_kinase_cat_dom	ENSG00000065675		0.582	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCQ	HGNC	protein_coding	OTTHUMT00000046665.1	87	0.00	0	C	NM_006257		6472861	6472861	-1	no_errors	ENST00000263125	ensembl	human	known	69_37n	missense	49	23.44	15	SNP	1.000	T
PRMT5	10419	genome.wustl.edu	37	14	23391766	23391766	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr14:23391766G>A	ENST00000324366.8	-	15	1805	c.1582C>T	c.(1582-1584)Cct>Tct	p.P528S	PRMT5-AS1_ENST00000457443.2_RNA|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000397440.4_Missense_Mutation_p.P357S|PRMT5-AS1_ENST00000609885.1_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000553897.1_Missense_Mutation_p.P484S|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5_ENST00000397441.2_Missense_Mutation_p.P511S|PRMT5_ENST00000538452.1_Missense_Mutation_p.P422S|PRMT5_ENST00000216350.8_Missense_Mutation_p.P467S|PRMT5-AS1_ENST00000587245.2_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	528	Beta barrel. {ECO:0000269|PubMed:23071334}.|SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		TCAATCATAGGATCTGTCAGG	0.448																																						dbGAP											0													160.0	168.0	166.0					14																	23391766		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"""Protein arginine methyltransferases"""	10894	protein-coding gene	gene with protein product		604045	"""skb1 (S. pombe) homolog"", ""SKB1 homolog (S. pombe)"""	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.1582C>T	14.37:g.23391766G>A	ENSP00000319169:p.Pro528Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5	p.P528S	ENST00000324366.8	37	c.1582	CCDS9579.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.92|12.92	2.083676|2.083676	0.36758|0.36758	.|.	.|.	ENSG00000100462|ENSG00000100462	ENST00000324366;ENST00000397441;ENST00000397440;ENST00000216350;ENST00000555454;ENST00000538452;ENST00000553897|ENST00000454731	T;T;T;T;T;T;T|.	0.21543|.	2.0;2.0;2.0;2.0;2.0;2.0;2.0|.	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	0.255285|.	0.39687|.	N|.	0.001299|.	T|T	0.32882|0.32882	0.0844|0.0844	N|N	0.02830|0.02830	-0.485|-0.485	0.43885|0.43885	D|D	0.996504|0.996504	B;B;B;B;B|.	0.13145|.	0.002;0.002;0.007;0.003;0.001|.	B;B;B;B;B|.	0.22152|.	0.008;0.005;0.038;0.005;0.006|.	T|T	0.30794|0.30794	-0.9966|-0.9966	10|5	0.08599|.	T|.	0.76|.	-11.9163|-11.9163	14.4149|14.4149	0.67142|0.67142	0.0:0.1478:0.8522:0.0|0.0:0.1478:0.8522:0.0	.|.	484;467;357;528;511|.	G3V5W5;B4DX49;A8MTP3;O14744;A8MZ91|.	.;.;.;ANM5_HUMAN;.|.	S|F	528;511;357;467;127;422;484|70	ENSP00000319169:P528S;ENSP00000380583:P511S;ENSP00000380582:P357S;ENSP00000216350:P467S;ENSP00000451245:P127S;ENSP00000444915:P422S;ENSP00000452555:P484S|.	ENSP00000216350:P467S|.	P|S	-|-	1|2	0|0	PRMT5|PRMT5	22461606|22461606	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	3.397000|3.397000	0.52572|0.52572	2.750000|2.750000	0.94351|0.94351	0.561000|0.561000	0.74099|0.74099	CCT|TCC	PRMT5	-	pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5	ENSG00000100462		0.448	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT5	HGNC	protein_coding	OTTHUMT00000071674.3	442	0.00	0	G			23391766	23391766	-1	no_errors	ENST00000324366	ensembl	human	known	69_37n	missense	277	14.77	48	SNP	1.000	A
ROBO2	6092	genome.wustl.edu	37	3	77571962	77571962	+	Silent	SNP	A	A	G			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr3:77571962A>G	ENST00000461745.1	+	6	1743	c.843A>G	c.(841-843)aaA>aaG	p.K281K	ROBO2_ENST00000332191.8_Silent_p.K281K|ROBO2_ENST00000487694.3_Silent_p.K297K	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	281	Ig-like C2-type 3.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TAAGAATTAAAAAGACCATGA	0.368																																						dbGAP											0													127.0	120.0	123.0					3																	77571962		1834	4079	5913	-	-	-	SO:0001819	synonymous_variant	0			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.843A>G	3.37:g.77571962A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O43608|Q19AB4|Q19AB5	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.K281	ENST00000461745.1	37	c.843	CCDS43109.1	3																																																																																			ROBO2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000185008		0.368	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	HGNC	protein_coding	OTTHUMT00000352600.2	342	0.00	0	A	XM_031246		77571962	77571962	+1	no_errors	ENST00000461745	ensembl	human	known	69_37n	silent	148	26.96	55	SNP	0.935	G
RPGR	6103	genome.wustl.edu	37	X	38160625	38160625	+	Splice_Site	SNP	C	C	A			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chrX:38160625C>A	ENST00000339363.3	-	9	1102		c.e9-1		RPGR_ENST00000309513.3_Splice_Site|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000338898.3_Splice_Site|RPGR_ENST00000342811.3_Splice_Site|RPGR_ENST00000318842.7_Splice_Site|RPGR_ENST00000378505.2_Splice_Site			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						AGGCCGATATCTAAAATGCAA	0.318																																						dbGAP											0													58.0	54.0	55.0					X																	38160625		2202	4299	6501	-	-	-	SO:0001630	splice_region_variant	0			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.935-1G>T	X.37:g.38160625C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Splice_Site	SNP	-	e9-1	ENST00000339363.3	37	c.935-1		X	.	.	.	.	.	.	.	.	.	.	C	12.12	1.841862	0.32513	.	.	ENSG00000156313	ENST00000339363;ENST00000309513;ENST00000338898;ENST00000318842;ENST00000342811;ENST00000378505	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4879	0.90836	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RPGR	38045569	1.000000	0.71417	0.960000	0.40013	0.281000	0.26958	6.922000	0.75811	2.407000	0.81776	0.590000	0.80494	.	RPGR	-	-	ENSG00000156313		0.318	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	RPGR	HGNC	protein_coding		85	0.00	0	C	NM_000328	Intron	38160625	38160625	-1	no_errors	ENST00000378505	ensembl	human	known	69_37n	splice_site	55	11.29	7	SNP	1.000	A
RXRB	6257	genome.wustl.edu	37	6	33166204	33166204	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr6:33166204delC	ENST00000374680.3	-	3	732	c.521delG	c.(520-522)ggcfs	p.G174fs	RXRB_ENST00000544186.1_Intron|RXRB_ENST00000374685.4_Frame_Shift_Del_p.G174fs|SLC39A7_ENST00000374675.3_5'Flank|RNY4P10_ENST00000365571.1_RNA|SLC39A7_ENST00000374677.3_5'Flank|RXRB_ENST00000413614.2_Frame_Shift_Del_p.G78fs	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	174	Modulating. {ECO:0000250}.|Pro-rich.				cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	TTCAGGGGGGCCAGACCCACC	0.577																																						dbGAP											0													92.0	111.0	104.0					6																	33166204		1508	2707	4215	-	-	-	SO:0001589	frameshift_variant	0			M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"""Nuclear hormone receptors"""	10478	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 2"""	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.521delG	6.37:g.33166204delC	ENSP00000363812:p.Gly174fs	Somatic		WXS	Illumina GAIIx	Phase_IV	P28703|Q59G65|Q5JP92|Q5STQ1	Frame_Shift_Del	DEL	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.G174fs	ENST00000374680.3	37	c.521	CCDS4768.1	6																																																																																			RXRB	-	NULL	ENSG00000204231		0.577	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RXRB	HGNC	protein_coding	OTTHUMT00000076642.2	92	0.00	0	C	NM_021976		33166204	33166204	-1	no_errors	ENST00000374680	ensembl	human	known	69_37n	frame_shift_del	67	24.18	22	DEL	1.000	-
SART1	9092	genome.wustl.edu	37	11	65746162	65746162	+	Splice_Site	DEL	T	T	-			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr11:65746162delT	ENST00000312397.5	+	18	2354		c.e18+2			NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells						cell cycle arrest (GO:0007050)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|spliceosomal snRNP assembly (GO:0000387)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GAGGAGGCGGTGGGTGCCCTT	0.682																																						dbGAP											0													37.0	49.0	45.0					11																	65746162		2193	4293	6486	-	-	-	SO:0001630	splice_region_variant	0			AB006198	CCDS31611.1	11q13.1	2009-01-06	2006-12-07		ENSG00000175467	ENSG00000175467			10538	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 110kDa (U4/U6.U5)"""	605941	"""squamous cell carcinoma antigen recognised by T cells"""			9449708	Standard	NM_005146		Approved	Ara1, Snu66, SNRNP110	uc001ogl.3	O43290	OTTHUMG00000166771	ENST00000312397.5:c.2262+2T>-	11.37:g.65746162delT		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDN1|Q53GB5	Splice_Site	DEL	-	e18+2	ENST00000312397.5	37	c.2262+2	CCDS31611.1	11																																																																																			SART1	-	-	ENSG00000175467		0.682	SART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SART1	HGNC	protein_coding	OTTHUMT00000391409.1	13	0.00	0	T		Intron	65746162	65746162	+1	no_errors	ENST00000312397	ensembl	human	known	69_37n	splice_site_del	13	33.33	8	DEL	1.000	-
SEMA5A	9037	genome.wustl.edu	37	5	9154711	9154711	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr5:9154711T>A	ENST00000382496.5	-	12	2035	c.1370A>T	c.(1369-1371)gAg>gTg	p.E457V		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	457	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CCTGATGGGCTCCCTCCGCCT	0.562																																						dbGAP											0													88.0	86.0	87.0					5																	9154711		2203	4300	6503	-	-	-	SO:0001583	missense	0			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1370A>T	5.37:g.9154711T>A	ENSP00000371936:p.Glu457Val	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt	p.E457V	ENST00000382496.5	37	c.1370	CCDS3875.1	5	.	.	.	.	.	.	.	.	.	.	T	17.12	3.308593	0.60305	.	.	ENSG00000112902	ENST00000382496	T	0.12147	2.71	5.47	5.47	0.80525	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.108218	0.64402	D	0.000005	T	0.20659	0.0497	L	0.56199	1.76	0.50813	D	0.999894	B	0.28667	0.219	B	0.38954	0.286	T	0.02505	-1.1149	10	0.48119	T	0.1	.	13.491	0.61395	0.0:0.0:0.0:1.0	.	457	Q13591	SEM5A_HUMAN	V	457	ENSP00000371936:E457V	ENSP00000371936:E457V	E	-	2	0	SEMA5A	9207711	1.000000	0.71417	0.925000	0.36789	0.472000	0.32918	7.398000	0.79919	2.089000	0.63090	0.482000	0.46254	GAG	SEMA5A	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000112902		0.562	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA5A	HGNC	protein_coding	OTTHUMT00000206989.2	78	0.00	0	T			9154711	9154711	-1	no_errors	ENST00000382496	ensembl	human	known	69_37n	missense	111	15.79	21	SNP	1.000	A
SSRP1	6749	genome.wustl.edu	37	11	57102000	57102000	+	Silent	SNP	G	G	A			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr11:57102000G>A	ENST00000278412.2	-	3	443	c.177C>T	c.(175-177)ggC>ggT	p.G59G		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	59					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TAAGTCCATGGCCCAGAGCAA	0.493																																					Colon(89;1000 1340 6884 23013 41819)	dbGAP											0													260.0	237.0	244.0					11																	57102000		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 80 kDa subunit"""	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.177C>T	11.37:g.57102000G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5BJG8	Silent	SNP	pfam_SSRP1_dom,pfam_DUF1747,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily,prints_SSrcognition	p.G59	ENST00000278412.2	37	c.177	CCDS7952.1	11																																																																																			SSRP1	-	NULL	ENSG00000149136		0.493	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSRP1	HGNC	protein_coding	OTTHUMT00000392460.1	129	0.00	0	G	NM_003146		57102000	57102000	-1	no_errors	ENST00000278412	ensembl	human	known	69_37n	silent	112	17.04	23	SNP	0.993	A
ST18	9705	genome.wustl.edu	37	8	53030972	53030972	+	Missense_Mutation	SNP	A	A	T	rs371067974		TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr8:53030972A>T	ENST00000276480.7	-	24	3468	c.2785T>A	c.(2785-2787)Ttg>Atg	p.L929M		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	929					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCTTCATCCAAATGCCTAATT	0.308																																						dbGAP											0													156.0	151.0	153.0					8																	53030972		2203	4297	6500	-	-	-	SO:0001583	missense	0			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2785T>A	8.37:g.53030972A>T	ENSP00000276480:p.Leu929Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RY1	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.L929M	ENST00000276480.7	37	c.2785	CCDS6149.1	8	.	.	.	.	.	.	.	.	.	.	A	19.06	3.754560	0.69648	.	.	ENSG00000147488	ENST00000276480	T	0.70282	-0.47	5.32	1.61	0.23674	.	0.000000	0.64402	D	0.000001	T	0.79764	0.4502	M	0.71206	2.165	0.48762	D	0.9997	D	0.89917	1.0	D	0.91635	0.999	T	0.77143	-0.2696	10	0.87932	D	0	-7.0464	8.2471	0.31695	0.7523:0.0:0.2477:0.0	.	929	O60284	ST18_HUMAN	M	929	ENSP00000276480:L929M	ENSP00000276480:L929M	L	-	1	2	ST18	53193525	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.064000	0.30579	0.039000	0.15632	0.482000	0.46254	TTG	ST18	-	NULL	ENSG00000147488		0.308	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST18	HGNC	protein_coding	OTTHUMT00000377867.1	114	0.00	0	A			53030972	53030972	-1	no_errors	ENST00000276480	ensembl	human	known	69_37n	missense	101	10.53	12	SNP	1.000	T
TCP11	6954	genome.wustl.edu	37	6	35108559	35108560	+	Frame_Shift_Ins	INS	-	-	G	rs371490655		TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr6:35108559_35108560insG	ENST00000512012.1	-	1	244_245	c.88_89insC	c.(88-90)cagfs	p.Q30fs	TCP11_ENST00000418521.2_Intron|TCP11_ENST00000373979.2_Intron|TCP11_ENST00000311875.5_Frame_Shift_Ins_p.Q43fs|TCP11_ENST00000244645.3_5'UTR|TCP11_ENST00000373974.4_Intron|TCP11_ENST00000412155.2_Intron|TCP11_ENST00000510465.1_5'UTR|TCP11_ENST00000444780.2_Frame_Shift_Ins_p.Q43fs			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	30					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						CTTGTCTTCCTGGGGGGGTCCT	0.639																																						dbGAP											0									,	6,3644		0,6,1819					,	-4.2	0.0			24	2,7854		0,2,3926	no	utr-5,frameshift	TCP11	NM_018679.4,NM_001093728.1	,	0,8,5745	A1A1,A1R,RR		0.0255,0.1644,0.0695	,	,		8,11498				-	-	-	SO:0001589	frameshift_variant	0				CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"""fertilization-promoting peptide receptor"""	186982	"""t-complex 11 (a murine tcp homolog)"", ""t-complex 11 homolog (mouse)"""	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560	ENST00000512012.1:c.89dupC	6.37:g.35108566_35108566dupG	ENSP00000425995:p.Gln30fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Frame_Shift_Ins	INS	pfam_Tcp11	p.Q43fs	ENST00000512012.1	37	c.128_127		6																																																																																			TCP11	-	NULL	ENSG00000124678		0.639	TCP11-014	PUTATIVE	basic	protein_coding	TCP11	HGNC	protein_coding	OTTHUMT00000370354.1	18	0.00	0	-	NM_001093728		35108559	35108560	-1	no_errors	ENST00000311875	ensembl	human	known	69_37n	frame_shift_ins	10	23.08	3	INS	0.000:0.004	G
TLR7	51284	genome.wustl.edu	37	X	12905642	12905642	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chrX:12905642G>A	ENST00000380659.3	+	3	2154	c.2015G>A	c.(2014-2016)gGt>gAt	p.G672D		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	672					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	GTTTTTGATGGTATGCCTCCA	0.358																																						dbGAP											0													79.0	86.0	83.0					X																	12905642		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.2015G>A	X.37:g.12905642G>A	ENSP00000370034:p.Gly672Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	D1CS69|Q9NR98	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.G672D	ENST00000380659.3	37	c.2015	CCDS14151.1	X	.	.	.	.	.	.	.	.	.	.	G	12.43	1.935259	0.34189	.	.	ENSG00000196664	ENST00000380659	T	0.80480	-1.38	5.46	5.46	0.80206	.	0.429474	0.23842	N	0.044024	T	0.74921	0.3780	L	0.35288	1.05	0.36773	D	0.883929	P	0.35050	0.482	B	0.41946	0.371	T	0.78443	-0.2202	10	0.45353	T	0.12	.	10.0533	0.42230	0.0782:0.1363:0.7855:0.0	.	672	Q9NYK1	TLR7_HUMAN	D	672	ENSP00000370034:G672D	ENSP00000370034:G672D	G	+	2	0	TLR7	12815563	0.997000	0.39634	0.865000	0.33974	0.949000	0.60115	3.350000	0.52224	2.304000	0.77564	0.529000	0.55759	GGT	TLR7	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000196664		0.358	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR7	HGNC	protein_coding	OTTHUMT00000055769.1	498	0.20	1	G	NM_016562		12905642	12905642	+1	no_errors	ENST00000380659	ensembl	human	known	69_37n	missense	181	38.80	116	SNP	0.528	A
TNIK	23043	genome.wustl.edu	37	3	170819279	170819279	+	Silent	SNP	G	G	T			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr3:170819279G>T	ENST00000436636.2	-	22	2894	c.2550C>A	c.(2548-2550)acC>acA	p.T850T	TNIK_ENST00000341852.6_Silent_p.T766T|TNIK_ENST00000369326.5_Silent_p.T828T|TNIK_ENST00000475336.1_Silent_p.T758T|TNIK_ENST00000470834.1_Silent_p.T813T|TNIK_ENST00000460047.1_Silent_p.T787T|TNIK_ENST00000357327.5_Silent_p.T821T|TNIK_ENST00000538048.1_Silent_p.T802T|TNIK_ENST00000284483.8_Silent_p.T842T|TNIK_ENST00000488470.1_Silent_p.T795T	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	850	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TCCCATCATGGGTCTCGCTCT	0.483																																						dbGAP											0													321.0	320.0	320.0					3																	170819279		2099	4240	6339	-	-	-	SO:0001819	synonymous_variant	0			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2550C>A	3.37:g.170819279G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.T850	ENST00000436636.2	37	c.2550	CCDS46956.1	3																																																																																			TNIK	-	NULL	ENSG00000154310		0.483	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	HGNC	protein_coding	OTTHUMT00000352973.2	434	0.00	0	G	XM_039796		170819279	170819279	-1	no_errors	ENST00000436636	ensembl	human	known	69_37n	silent	369	18.64	85	SNP	0.940	T
TP53	7157	genome.wustl.edu	37	17	7578525	7578525	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr17:7578525G>C	ENST00000269305.4	-	5	594	c.405C>G	c.(403-405)tgC>tgG	p.C135W	TP53_ENST00000413465.2_Missense_Mutation_p.C135W|TP53_ENST00000455263.2_Missense_Mutation_p.C135W|TP53_ENST00000420246.2_Missense_Mutation_p.C135W|TP53_ENST00000445888.2_Missense_Mutation_p.C135W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.C135W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	135	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C135W(24)|p.0?(8)|p.C135*(7)|p.C135C(5)|p.C135fs*9(3)|p.N131fs*27(2)|p.Q136fs*13(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C3W(1)|p.C42W(1)|p.C135_T140delCQLAKT(1)|p.Q136*(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGGCCAGTTGGCAAAACATCT	0.567		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	68	Substitution - Missense(27)|Deletion - Frameshift(9)|Substitution - Nonsense(8)|Whole gene deletion(8)|Substitution - coding silent(5)|Deletion - In frame(4)|Insertion - Frameshift(4)|Insertion - In frame(2)|Complex - deletion inframe(1)	urinary_tract(11)|lung(8)|breast(7)|central_nervous_system(6)|oesophagus(6)|ovary(6)|haematopoietic_and_lymphoid_tissue(5)|bone(4)|upper_aerodigestive_tract(3)|large_intestine(3)|stomach(2)|skin(2)|prostate(2)|thyroid(1)|liver(1)|pancreas(1)											51.0	51.0	51.0					17																	7578525		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.405C>G	17.37:g.7578525G>C	ENSP00000269305:p.Cys135Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.C135W	ENST00000269305.4	37	c.405	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337657	0.60963	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99801	-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81	5.48	3.5	0.40072	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99691	0.9883	M	0.85945	2.785	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;0.99;1.0;1.0;1.0;1.0	D	0.98316	1.0526	10	0.72032	D	0.01	-26.815	10.0222	0.42051	0.1647:0.0:0.8353:0.0	.	96;135;135;42;135;135;135	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	W	135;135;135;135;135;135;124;42;3;42;3;135	ENSP00000410739:C135W;ENSP00000352610:C135W;ENSP00000269305:C135W;ENSP00000398846:C135W;ENSP00000391127:C135W;ENSP00000391478:C135W;ENSP00000425104:C3W;ENSP00000423862:C42W;ENSP00000424104:C135W	ENSP00000269305:C135W	C	-	3	2	TP53	7519250	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	0.645000	0.24782	0.798000	0.33994	0.655000	0.94253	TGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	83	0.00	0	G	NM_000546		7578525	7578525	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	24	68.83	53	SNP	1.000	C
TTC5	91875	genome.wustl.edu	37	14	20764583	20764583	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr14:20764583G>C	ENST00000258821.3	-	6	718	c.662C>G	c.(661-663)tCt>tGt	p.S221C		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	221					DNA repair (GO:0006281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		AGGATTGCTAGAAGCTTTTCT	0.438																																						dbGAP											0													208.0	199.0	202.0					14																	20764583		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC008647	CCDS9546.1	14q11.2	2013-01-11			ENSG00000136319	ENSG00000136319		"""Tetratricopeptide (TTC) repeat domain containing"""	19274	protein-coding gene	gene with protein product						11511361	Standard	NM_138376		Approved	Strap	uc001vwt.3	Q8N0Z6	OTTHUMG00000029506	ENST00000258821.3:c.662C>G	14.37:g.20764583G>C	ENSP00000258821:p.Ser221Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MQ18|Q96HF9	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S221C	ENST00000258821.3	37	c.662	CCDS9546.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.53|15.53	2.860497|2.860497	0.51482|0.51482	.|.	.|.	ENSG00000136319|ENSG00000136319	ENST00000423949|ENST00000258821	.|T	.|0.33216	.|1.42	5.1|5.1	4.19|4.19	0.49359|0.49359	.|Tetratricopeptide-like helical (1);	.|0.051626	.|0.85682	.|N	.|0.000000	T|T	0.32376|0.32376	0.0827|0.0827	L|L	0.56769|0.56769	1.78|1.78	0.54753|0.54753	D|D	0.999985|0.999985	.|B	.|0.12013	.|0.005	.|B	.|0.09377	.|0.004	T|T	0.17410|0.17410	-1.0370|-1.0370	5|10	.|0.59425	.|D	.|0.04	.|.	14.8395|14.8395	0.70212|0.70212	0.0:0.1452:0.8548:0.0|0.0:0.1452:0.8548:0.0	.|.	.|221	.|Q8N0Z6	.|TTC5_HUMAN	L|C	165|221	.|ENSP00000258821:S221C	.|ENSP00000258821:S221C	F|S	-|-	3|2	2|0	TTC5|TTC5	19834423|19834423	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.285000|5.285000	0.65633|0.65633	1.487000|1.487000	0.48415|0.48415	0.655000|0.655000	0.94253|0.94253	TTC|TCT	TTC5	-	NULL	ENSG00000136319		0.438	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC5	HGNC	protein_coding	OTTHUMT00000073529.4	319	0.00	0	G	NM_138376		20764583	20764583	-1	no_errors	ENST00000258821	ensembl	human	known	69_37n	missense	117	28.22	46	SNP	1.000	C
UACA	55075	genome.wustl.edu	37	15	70949465	70949465	+	Splice_Site	SNP	C	C	A			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr15:70949465C>A	ENST00000322954.6	-	19	4366	c.4181G>T	c.(4180-4182)gGt>gTt	p.G1394V	UACA_ENST00000379983.2_Splice_Site_p.G1381V|UACA_ENST00000560441.1_Splice_Site_p.G1379V|UACA_ENST00000539319.1_Splice_Site_p.G1285V	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1394					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ATCCATGTGACCCTTCGGAGA	0.408																																						dbGAP											0													82.0	80.0	81.0					15																	70949465		2199	4298	6497	-	-	-	SO:0001630	splice_region_variant	0			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.4180-1G>T	15.37:g.70949465C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt	p.G1394V	ENST00000322954.6	37	c.4181	CCDS10235.1	15	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302209	0.81136	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.70164	-0.46;-0.46;-0.46	5.5	5.5	0.81552	.	0.097095	0.45361	D	0.000373	D	0.82323	0.5012	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;P;D	0.66084	0.941;0.875;0.941	D	0.83933	0.0307	10	0.87932	D	0	-19.275	19.7739	0.96383	0.0:1.0:0.0:0.0	.	1285;1394;1381	F5H2B9;Q9BZF9;G3XAG2	.;UACA_HUMAN;.	V	1394;1381;1285	ENSP00000314556:G1394V;ENSP00000369319:G1381V;ENSP00000438667:G1285V	ENSP00000314556:G1394V	G	-	2	0	UACA	68736519	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	7.326000	0.79133	2.744000	0.94065	0.655000	0.94253	GGT	UACA	-	NULL	ENSG00000137831		0.408	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UACA	HGNC	protein_coding	OTTHUMT00000257199.2	154	0.00	0	C		Missense_Mutation	70949465	70949465	-1	no_errors	ENST00000322954	ensembl	human	known	69_37n	missense	60	20.00	15	SNP	1.000	A
UNC5D	137970	genome.wustl.edu	37	8	35563480	35563480	+	Splice_Site	SNP	G	G	T			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr8:35563480G>T	ENST00000404895.2	+	8	1445		c.e8+1		UNC5D_ENST00000453357.2_Splice_Site|UNC5D_ENST00000287272.2_Splice_Site|UNC5D_ENST00000420357.1_Intron|UNC5D_ENST00000416672.1_Splice_Site	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)						apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AAACCCCAAAGTAAGTTATTT	0.294																																						dbGAP											0													52.0	51.0	52.0					8																	35563480		2201	4297	6498	-	-	-	SO:0001630	splice_region_variant	0			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1117+1G>T	8.37:g.35563480G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WYP7	Splice_Site	SNP	-	e8+1	ENST00000404895.2	37	c.1117+1	CCDS6093.2	8	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026274	0.75390	.	.	ENSG00000156687	ENST00000404895;ENST00000287272;ENST00000416672;ENST00000453357	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6156	0.95632	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UNC5D	35683022	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.672000	0.61597	2.702000	0.92279	0.655000	0.94253	.	UNC5D	-	-	ENSG00000156687		0.294	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2	62	0.00	0	G		Intron	35563480	35563480	+1	no_errors	ENST00000404895	ensembl	human	known	69_37n	splice_site	51	46.32	44	SNP	1.000	T
USH2A	7399	genome.wustl.edu	37	1	216390881	216390881	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr1:216390881C>G	ENST00000307340.3	-	15	3391	c.3005G>C	c.(3004-3006)tGt>tCt	p.C1002S	USH2A_ENST00000366943.2_Missense_Mutation_p.C1002S|USH2A_ENST00000366942.3_Missense_Mutation_p.C1002S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1002	Laminin EGF-like 10. {ECO:0000255|PROSITE-ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATGACAATTACAAGGCTGACA	0.373										HNSCC(13;0.011)																												dbGAP											0													66.0	62.0	63.0					1																	216390881		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3005G>C	1.37:g.216390881C>G	ENSP00000305941:p.Cys1002Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.C1002S	ENST00000307340.3	37	c.3005	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359671	0.82353	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	D;D;D	0.94280	-3.39;-3.39;-3.39	5.22	5.22	0.72569	EGF-like, laminin (3);	0.000000	0.44902	U	0.000420	D	0.98257	0.9423	H	0.98629	4.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99727	1.1011	10	0.72032	D	0.01	.	18.78	0.91928	0.0:1.0:0.0:0.0	.	1002;1002	O75445-2;O75445	.;USH2A_HUMAN	S	1002	ENSP00000305941:C1002S;ENSP00000355910:C1002S;ENSP00000355909:C1002S	ENSP00000305941:C1002S	C	-	2	0	USH2A	214457504	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.846000	0.62860	2.443000	0.82685	0.591000	0.81541	TGT	USH2A	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin	ENSG00000042781		0.373	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	101	0.98	1	C	NM_007123		216390881	216390881	-1	no_errors	ENST00000366943	ensembl	human	known	69_37n	missense	95	12.84	14	SNP	1.000	G
ZNF540	163255	genome.wustl.edu	37	19	38103478	38103478	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr19:38103478C>A	ENST00000592533.1	+	5	1629	c.1297C>A	c.(1297-1299)Cat>Aat	p.H433N	ZNF540_ENST00000316433.4_Missense_Mutation_p.H433N|ZNF540_ENST00000589117.1_Missense_Mutation_p.H401N|ZNF540_ENST00000343599.5_Missense_Mutation_p.H433N	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	433					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCTAGAATTCATACTGGAGA	0.403																																						dbGAP											0													83.0	82.0	82.0					19																	38103478		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.1297C>A	19.37:g.38103478C>A	ENSP00000466274:p.His433Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H433N	ENST00000592533.1	37	c.1297	CCDS12506.1	19	.	.	.	.	.	.	.	.	.	.	C	21.8	4.201375	0.79015	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T;D	0.86865	-0.26;-2.18	2.39	2.39	0.29439	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94420	0.8205	H	0.94222	3.51	0.27993	N	0.935578	D;D	0.69078	0.996;0.997	D;D	0.67725	0.921;0.953	D	0.87589	0.2489	9	0.72032	D	0.01	.	11.8424	0.52361	0.0:1.0:0.0:0.0	.	401;433	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	N	433;401	ENSP00000324598:H433N;ENSP00000343768:H401N	ENSP00000324598:H433N	H	+	1	0	ZNF540	42795318	0.995000	0.38212	0.434000	0.26772	0.953000	0.61014	3.803000	0.55560	1.313000	0.45069	0.305000	0.20034	CAT	ZNF540	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171817		0.403	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF540	HGNC	protein_coding	OTTHUMT00000459481.1	184	0.00	0	C	NM_152606		38103478	38103478	+1	no_errors	ENST00000316433	ensembl	human	known	69_37n	missense	82	49.38	80	SNP	1.000	A
ZNF320	162967	genome.wustl.edu	37	19	53384808	53384808	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0HX-01A-21W-A071-09	TCGA-BH-A0HX-10A-02W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	27df78cd-1f39-42f3-92e6-56664d4c472c	ec32084a-c085-4ef6-b50e-212ae61944ec	g.chr19:53384808A>G	ENST00000595635.1	-	8	1072	c.571T>C	c.(571-573)Tgt>Cgt	p.C191R	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.C191R|ZNF320_ENST00000600930.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	191					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		CAAACCTTACATTTGTATGGT	0.358																																						dbGAP											0													78.0	73.0	75.0					19																	53384808		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.571T>C	19.37:g.53384808A>G	ENSP00000473091:p.Cys191Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NDR6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C191R	ENST00000595635.1	37	c.571	CCDS33095.1	19	.	.	.	.	.	.	.	.	.	.	-	15.61	2.885644	0.51908	.	.	ENSG00000182986	ENST00000391781	D	0.85258	-1.96	1.75	1.75	0.24633	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94345	0.8182	H	0.98276	4.19	0.51767	D	0.999934	D	0.89917	1.0	D	0.97110	1.0	D	0.93017	0.6437	9	0.72032	D	0.01	.	8.3136	0.32086	1.0:0.0:0.0:0.0	.	191	A2RRD8	ZN320_HUMAN	R	191	ENSP00000375660:C191R	ENSP00000375660:C191R	C	-	1	0	ZNF320	58076620	1.000000	0.71417	0.011000	0.14972	0.278000	0.26855	7.107000	0.77047	0.796000	0.33947	0.163000	0.16589	TGT	ZNF320	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000182986		0.358	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF320	HGNC	protein_coding	OTTHUMT00000463771.1	300	0.00	0	A	NM_207333		53384808	53384808	-1	no_errors	ENST00000391781	ensembl	human	known	69_37n	missense	287	17.29	60	SNP	0.802	G
