#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ASTN1	460	genome.wustl.edu	37	1	176998868	176998868	+	Missense_Mutation	SNP	G	G	T			TCGA-EW-A2FV-01A-11D-A17D-09	TCGA-EW-A2FV-10A-01D-A17D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4688c20c-f73d-4203-a123-acc833628062	feca40a1-64e9-488f-8c06-809bf7058b96	g.chr1:176998868G>T	ENST00000367654.3	-	5	1233	c.1022C>A	c.(1021-1023)gCc>gAc	p.A341D	ASTN1_ENST00000281881.3_5'UTR|MIR488_ENST00000365739.2_RNA|ASTN1_ENST00000361833.2_Missense_Mutation_p.A341D|ASTN1_ENST00000367657.3_Missense_Mutation_p.A341D|ASTN1_ENST00000424564.2_Missense_Mutation_p.A341D	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	341					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GTTCAAGAAGGCGGAACCAGC	0.488																																						dbGAP											0													51.0	46.0	48.0					1																	176998868		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1022C>A	1.37:g.176998868G>T	ENSP00000356626:p.Ala341Asp		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_EGF-like,smart_MACPF,pfscan_Fibronectin_type3	p.A341D	ENST00000367654.3	37	c.1022		1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564799	0.86439	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.16457	2.34;2.76;2.76;2.34	5.03	5.03	0.67393	.	0.155104	0.64402	D	0.000020	T	0.20333	0.0489	N	0.19112	0.55	0.58432	D	0.999994	P;P;P	0.48016	0.904;0.904;0.904	P;P;P	0.49887	0.625;0.625;0.625	T	0.02320	-1.1177	10	0.62326	D	0.03	-29.4157	18.3563	0.90358	0.0:0.0:1.0:0.0	.	341;341;341	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	D	341	ENSP00000356629:A341D;ENSP00000354536:A341D;ENSP00000356626:A341D;ENSP00000395041:A341D	ENSP00000354536:A341D	A	-	2	0	ASTN1	175265491	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	8.923000	0.92808	2.469000	0.83416	0.650000	0.86243	GCC	ASTN1	-	NULL	ENSG00000152092		0.488	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		71	0.00	0	G	NM_004319		176998868	176998868	-1	no_errors	ENST00000367654	ensembl	human	known	69_37n	missense	68	20.93	18	SNP	1.000	T
C16orf70	80262	genome.wustl.edu	37	16	67183812	67183812	+	IGR	SNP	G	G	T			TCGA-EW-A2FV-01A-11D-A17D-09	TCGA-EW-A2FV-10A-01D-A17D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4688c20c-f73d-4203-a123-acc833628062	feca40a1-64e9-488f-8c06-809bf7058b96	g.chr16:67183812G>T	ENST00000219139.3	+	0	2865				B3GNT9_ENST00000449549.3_Missense_Mutation_p.L193M	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70											cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		GCCCAGAGCAGGATGTCCGCA	0.647																																						dbGAP											0													32.0	34.0	33.0					16																	67183812		2003	4175	6178	-	-	-	SO:0001628	intergenic_variant	0			AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510		16.37:g.67183812G>T			Q9HA86	Missense_Mutation	SNP	pfam_Glyco_trans_31,pfam_Fringe-like	p.L193M	ENST00000219139.3	37	c.577	CCDS10828.1	16	.	.	.	.	.	.	.	.	.	.	g	17.91	3.503802	0.64410	.	.	ENSG00000237172	ENST00000449549	T	0.52754	0.65	4.65	2.21	0.28008	.	.	.	.	.	T	0.73305	0.3570	H	0.95079	3.62	0.36907	D	0.890686	D	0.89917	1.0	D	0.91635	0.999	T	0.76002	-0.3118	9	0.87932	D	0	-1.133	7.4126	0.27025	0.3827:0.0:0.6172:0.0	.	193	Q6UX72	B3GN9_HUMAN	M	193	ENSP00000400157:L193M	ENSP00000400157:L193M	L	-	1	2	B3GNT9	65741313	1.000000	0.71417	0.991000	0.47740	0.937000	0.57800	3.137000	0.50562	0.181000	0.19994	0.556000	0.70494	CTG	B3GNT9	-	pfam_Glyco_trans_31	ENSG00000237172		0.647	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT9	HGNC	protein_coding	OTTHUMT00000268829.2	23	0.00	0	G	NM_025187		67183812	67183812	-1	no_errors	ENST00000449549	ensembl	human	known	69_37n	missense	19	17.39	4	SNP	1.000	T
C15orf52	388115	genome.wustl.edu	37	15	40632158	40632158	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A2FV-01A-11D-A17D-09	TCGA-EW-A2FV-10A-01D-A17D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4688c20c-f73d-4203-a123-acc833628062	feca40a1-64e9-488f-8c06-809bf7058b96	g.chr15:40632158C>T	ENST00000559313.1	-	2	218	c.203G>A	c.(202-204)cGg>cAg	p.R68Q	C15orf52_ENST00000557973.1_5'UTR|C15orf52_ENST00000397536.2_5'Flank	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	68							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		AACTATCCTCCGATCCAGCTC	0.642																																						dbGAP											0													68.0	77.0	74.0					15																	40632158		2107	4228	6335	-	-	-	SO:0001583	missense	0			AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.203G>A	15.37:g.40632158C>T	ENSP00000453969:p.Arg68Gln		B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Missense_Mutation	SNP	NULL	p.R68Q	ENST00000559313.1	37	c.203	CCDS10055.2	15	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885023	0.91814	.	.	ENSG00000188549	ENST00000382688	.	.	.	4.61	4.61	0.57282	.	0.000000	0.40818	N	0.001017	T	0.68650	0.3024	M	0.65975	2.015	0.31691	N	0.641882	D	0.89917	1.0	D	0.80764	0.994	T	0.73861	-0.3849	9	0.66056	D	0.02	-21.3828	12.8071	0.57619	0.0:1.0:0.0:0.0	.	68	Q6ZUT6	CO052_HUMAN	Q	68	.	ENSP00000372135:R68Q	R	-	2	0	C15orf52	38419450	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	1.763000	0.38461	2.401000	0.81631	0.462000	0.41574	CGG	C15orf52	-	NULL	ENSG00000188549		0.642	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf52	HGNC	protein_coding	OTTHUMT00000319567.2	102	0.00	0	C	NM_207380		40632158	40632158	-1	no_errors	ENST00000559313	ensembl	human	known	69_37n	missense	63	16.00	12	SNP	1.000	T
COL6A5	256076	genome.wustl.edu	37	3	130116570	130116570	+	Missense_Mutation	SNP	G	G	T			TCGA-EW-A2FV-01A-11D-A17D-09	TCGA-EW-A2FV-10A-01D-A17D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4688c20c-f73d-4203-a123-acc833628062	feca40a1-64e9-488f-8c06-809bf7058b96	g.chr3:130116570G>T	ENST00000432398.2	+	9	4206	c.3712G>T	c.(3712-3714)Gct>Tct	p.A1238S	COL6A5_ENST00000265379.6_Missense_Mutation_p.A1238S	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1238	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GAGCTGTGGGGCTGGCACAGA	0.542																																						dbGAP											0													106.0	96.0	99.0					3																	130116570		692	1591	2283	-	-	-	SO:0001583	missense	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.3712G>T	3.37:g.130116570G>T	ENSP00000390895:p.Ala1238Ser		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.A1238S	ENST00000432398.2	37	c.3712		3	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027788	0.35797	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	T;T	0.37235	1.21;1.21	4.54	3.66	0.41972	.	.	.	.	.	T	0.32941	0.0846	L	0.40543	1.245	0.21355	N	0.999718	P	0.37276	0.589	B	0.44044	0.439	T	0.14008	-1.0488	9	0.17369	T	0.5	.	8.789	0.34839	0.0878:0.1523:0.7599:0.0	.	1238	A8TX70-2	.	S	1238	ENSP00000390895:A1238S;ENSP00000265379:A1238S	ENSP00000265379:A1238S	A	+	1	0	COL6A5	131599260	0.940000	0.31905	0.983000	0.44433	0.661000	0.39034	1.929000	0.40114	1.221000	0.43506	0.561000	0.74099	GCT	COL6A5	-	NULL	ENSG00000172752		0.542	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		81	0.00	0	G	NM_153264		130116570	130116570	+1	no_errors	ENST00000265379	ensembl	human	known	69_37n	missense	58	30.12	25	SNP	0.996	T
CROCCP2	84809	genome.wustl.edu	37	1	16950807	16950807	+	lincRNA	SNP	C	C	T	rs11590427	byFrequency	TCGA-EW-A2FV-01A-11D-A17D-09	TCGA-EW-A2FV-10A-01D-A17D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4688c20c-f73d-4203-a123-acc833628062	feca40a1-64e9-488f-8c06-809bf7058b96	g.chr1:16950807C>T	ENST00000412962.1	-	0	1000							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CCTGCCTTCACGCTCCGCAGG	0.692													.|||	1027	0.205072	0.2587	0.1196	5008	,	,		59386	0.2748		0.162	False		,,,				2504	0.1656					dbGAP											0																																										-	-	-			0			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16950807C>T			Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-	ENSG00000215908		0.692	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	40	0.00	0	C	NR_026752.1		16950807	16950807	-1	no_errors	ENST00000421700	ensembl	human	known	69_37n	rna	58	14.71	10	SNP	0.483	T
DSC1	1823	genome.wustl.edu	37	18	28721981	28721981	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A2FV-01A-11D-A17D-09	TCGA-EW-A2FV-10A-01D-A17D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4688c20c-f73d-4203-a123-acc833628062	feca40a1-64e9-488f-8c06-809bf7058b96	g.chr18:28721981C>T	ENST00000257198.5	-	9	1502	c.1241G>A	c.(1240-1242)gGa>gAa	p.G414E	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_Missense_Mutation_p.G414E	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	414	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ACACAGCACTCCTTCATTTGT	0.328																																						dbGAP											0													178.0	183.0	181.0					18																	28721981		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.1241G>A	18.37:g.28721981C>T	ENSP00000257198:p.Gly414Glu		Q9HB01	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_pro_dom,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmocollin,prints_Cadherin,prints_Desmo_cadherin	p.G414E	ENST00000257198.5	37	c.1241	CCDS11894.1	18	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971297	0.53614	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.72725	-0.68;-0.68	5.46	0.0973	0.14493	Cadherin (5);Cadherin-like (1);	0.424529	0.19247	N	0.119031	D	0.88883	0.6558	H	0.97940	4.11	0.44862	D	0.997878	D;P	0.56968	0.978;0.698	P;P	0.57548	0.823;0.451	D	0.94013	0.7286	10	0.87932	D	0	.	22.6711	0.99974	0.0:0.8446:0.1554:0.0	.	414;414	Q08554;Q9HB00	DSC1_HUMAN;.	E	414	ENSP00000257197:G414E;ENSP00000257198:G414E	ENSP00000257197:G414E	G	-	2	0	DSC1	26975979	0.097000	0.21791	0.361000	0.25849	0.995000	0.86356	0.513000	0.22770	0.061000	0.16311	-0.171000	0.13296	GGA	DSC1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000134765		0.328	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DSC1	HGNC	protein_coding	OTTHUMT00000254946.1	164	0.00	0	C	NM_004948, NM_024421		28721981	28721981	-1	no_errors	ENST00000257198	ensembl	human	known	69_37n	missense	159	10.67	19	SNP	0.420	T
ERLEC1	27248	genome.wustl.edu	37	2	54040191	54040191	+	Missense_Mutation	SNP	G	G	A			TCGA-EW-A2FV-01A-11D-A17D-09	TCGA-EW-A2FV-10A-01D-A17D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4688c20c-f73d-4203-a123-acc833628062	feca40a1-64e9-488f-8c06-809bf7058b96	g.chr2:54040191G>A	ENST00000185150.4	+	11	1338	c.1207G>A	c.(1207-1209)Gat>Aat	p.D403N	ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000378239.5_Missense_Mutation_p.D349N|ASB3_ENST00000498475.2_Intron|ERLEC1_ENST00000405123.3_Missense_Mutation_p.D403N	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	403	PRKCSH 2.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	glycoprotein binding (GO:0001948)			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						TCTTCAAGACGATGGTACCCA	0.373																																						dbGAP											0													96.0	90.0	92.0					2																	54040191		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF131849	CCDS1848.1, CCDS46283.1, CCDS46284.1	2p16	2010-03-19	2009-08-26	2009-08-26	ENSG00000068912	ENSG00000068912			25222	protein-coding gene	gene with protein product	"""erlectin 1"""	611229	"""chromosome 2 open reading frame 30"""	C2orf30		9110174, 8619474, 16531414, 18264092	Standard	NM_015701		Approved	CL25084, XTP3TPB, XTP3-B, ERLECTIN	uc002rxl.3	Q96DZ1	OTTHUMG00000129281	ENST00000185150.4:c.1207G>A	2.37:g.54040191G>A	ENSP00000185150:p.Asp403Asn		B2RDB4|B5MC72|O95901|Q6UWN7|Q9NUY7|Q9UQL4	Missense_Mutation	SNP	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	p.D403N	ENST00000185150.4	37	c.1207	CCDS1848.1	2	.	.	.	.	.	.	.	.	.	.	G	33	5.235086	0.95207	.	.	ENSG00000068912	ENST00000405123;ENST00000185150;ENST00000378239	T;T	0.45276	3.78;0.9	5.77	5.77	0.91146	Mannose-6-phosphate receptor, binding (1);Glucosidase II beta subunit-like (1);	0.000000	0.85682	D	0.000000	T	0.62720	0.2451	.	.	.	0.38547	D	0.949368	D;D;D	0.69078	0.984;0.997;0.997	P;P;D	0.63597	0.646;0.828;0.916	T	0.58544	-0.7618	9	0.33940	T	0.23	-24.9297	20.3626	0.98863	0.0:0.0:1.0:0.0	.	349;403;403	Q96DZ1-2;B5MC72;Q96DZ1	.;.;ERLEC_HUMAN	N	403;403;349	ENSP00000385629:D403N;ENSP00000185150:D403N	ENSP00000185150:D403N	D	+	1	0	ERLEC1	53893695	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.209000	0.95087	2.885000	0.99019	0.655000	0.94253	GAT	ERLEC1	-	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	ENSG00000068912		0.373	ERLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERLEC1	HGNC	protein_coding	OTTHUMT00000251404.1	48	0.00	0	G	NM_015701		54040191	54040191	+1	no_errors	ENST00000185150	ensembl	human	known	69_37n	missense	47	17.24	10	SNP	1.000	A
FBXL3	26224	genome.wustl.edu	37	13	77595879	77595879	+	Silent	SNP	G	G	A			TCGA-EW-A2FV-01A-11D-A17D-09	TCGA-EW-A2FV-10A-01D-A17D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4688c20c-f73d-4203-a123-acc833628062	feca40a1-64e9-488f-8c06-809bf7058b96	g.chr13:77595879G>A	ENST00000355619.5	-	2	441	c.117C>T	c.(115-117)ctC>ctT	p.L39L		NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	39	F-box.				entrainment of circadian clock by photoperiod (GO:0043153)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TGTCCTGAAGGAGATTACCCC	0.423																																						dbGAP											0													139.0	148.0	145.0					13																	77595879		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF129532	CCDS9457.1	13q22	2011-06-09	2004-07-20	2004-07-21	ENSG00000005812	ENSG00000005812		"""F-boxes / Leucine-rich repeats"""	13599	protein-coding gene	gene with protein product		605653	"""F-box and leucine-rich repeat protein 3A"""	FBXL3A		10531035, 10828603	Standard	NM_012158		Approved	FBL3, FBL3A	uc001vkd.3	Q9UKT7	OTTHUMG00000017099	ENST00000355619.5:c.117C>T	13.37:g.77595879G>A			B2RB04|Q9P122	Silent	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like	p.L39	ENST00000355619.5	37	c.117	CCDS9457.1	13																																																																																			FBXL3	-	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like	ENSG00000005812		0.423	FBXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL3	HGNC	protein_coding	OTTHUMT00000045312.3	97	0.00	0	G			77595879	77595879	-1	no_errors	ENST00000355619	ensembl	human	known	69_37n	silent	85	18.27	19	SNP	0.974	A
FRMPD1	22844	genome.wustl.edu	37	9	37732388	37732388	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A2FV-01A-11D-A17D-09	TCGA-EW-A2FV-10A-01D-A17D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4688c20c-f73d-4203-a123-acc833628062	feca40a1-64e9-488f-8c06-809bf7058b96	g.chr9:37732388C>T	ENST00000539465.1	+	10	1539	c.946C>T	c.(946-948)Cgg>Tgg	p.R316W	FRMPD1_ENST00000541302.1_Missense_Mutation_p.R185W|FRMPD1_ENST00000377765.3_Missense_Mutation_p.R316W|FRMPD1_ENST00000536622.1_Missense_Mutation_p.R138W|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	316	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.R316W(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CATCCAGGAACGGATCTACGC	0.512																																						dbGAP											1	Substitution - Missense(1)	stomach(1)											56.0	57.0	57.0					9																	37732388		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.946C>T	9.37:g.37732388C>T	ENSP00000444411:p.Arg316Trp		B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ	p.R316W	ENST00000539465.1	37	c.946	CCDS6612.1	9	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054272	0.75960	.	.	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000536622;ENST00000541302	T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18	5.34	4.43	0.53597	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.85080	0.5615	L	0.57536	1.79	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.85995	0.1491	10	0.66056	D	0.02	-16.256	13.1836	0.59668	0.1608:0.8392:0.0:0.0	.	185;316	B4DZC8;Q5SYB0	.;FRPD1_HUMAN	W	316;316;138;185	ENSP00000366995:R316W;ENSP00000444411:R316W;ENSP00000437762:R138W;ENSP00000444804:R185W	ENSP00000366995:R316W	R	+	1	2	FRMPD1	37722388	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	3.209000	0.51122	1.230000	0.43646	0.655000	0.94253	CGG	FRMPD1	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000070601		0.512	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FRMPD1	HGNC	protein_coding	OTTHUMT00000402969.1	97	0.00	0	C	NM_014907		37732388	37732388	+1	no_errors	ENST00000377765	ensembl	human	known	69_37n	missense	52	22.39	15	SNP	1.000	T
ITGB5	3693	genome.wustl.edu	37	3	124567275	124567275	+	Silent	SNP	G	G	A			TCGA-EW-A2FV-01A-11D-A17D-09	TCGA-EW-A2FV-10A-01D-A17D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4688c20c-f73d-4203-a123-acc833628062	feca40a1-64e9-488f-8c06-809bf7058b96	g.chr3:124567275G>A	ENST00000296181.4	-	4	788	c.492C>T	c.(490-492)ctC>ctT	p.L164L		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	164	VWFA.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		TCTCCTCCGCGAGTTTGGTGC	0.542																																						dbGAP											0													161.0	146.0	151.0					3																	124567275		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"""Integrins"""	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.492C>T	3.37:g.124567275G>A			B0LPF8|B2RD70	Silent	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_VWF_A,prints_Integrin_bsu	p.L164	ENST00000296181.4	37	c.492	CCDS3030.1	3																																																																																			ITGB5	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,smart_VWF_A	ENSG00000082781		0.542	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB5	HGNC	protein_coding	OTTHUMT00000355286.3	98	0.00	0	G	NM_002213		124567275	124567275	-1	no_errors	ENST00000296181	ensembl	human	known	69_37n	silent	78	17.89	17	SNP	0.796	A
IVD	3712	genome.wustl.edu	37	15	40702971	40702971	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EW-A2FV-01A-11D-A17D-09	TCGA-EW-A2FV-10A-01D-A17D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4688c20c-f73d-4203-a123-acc833628062	feca40a1-64e9-488f-8c06-809bf7058b96	g.chr15:40702971delC	ENST00000249760.2	+	4	774	c.431delC	c.(430-432)gccfs	p.A144fs	IVD_ENST00000490194.1_3'UTR|IVD_ENST00000487418.2_Frame_Shift_Del_p.A147fs|IVD_ENST00000479013.2_Frame_Shift_Del_p.A117fs	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	144					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	flavin adenine dinucleotide binding (GO:0050660)|isovaleryl-CoA dehydrogenase activity (GO:0008470)			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)	Flavin adenine dinucleotide(DB03147)	GGGAATGAGGCCCAGAAAGAG	0.517																																					GBM(31;293 617 7486 32527 34655)	dbGAP											0													60.0	49.0	53.0					15																	40702971		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF038317	CCDS10057.1, CCDS10057.2, CCDS53930.1	15q14-q15	2010-05-11	2010-05-11		ENSG00000128928	ENSG00000128928	1.3.99.10		6186	protein-coding gene	gene with protein product		607036	"""isovaleryl Coenzyme A dehydrogenase"", ""isovaleryl CoA dehydrogenase"""			2063866	Standard	NM_002225		Approved	ACAD2	uc001zls.3	P26440	OTTHUMG00000129984	ENST00000249760.2:c.431delC	15.37:g.40702971delC	ENSP00000249760:p.Ala144fs		B2RCV5|B3KVI7|J3KR54|Q53XZ9|Q96AF6	Frame_Shift_Del	DEL	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.Q148fs	ENST00000249760.2	37	c.440		15																																																																																			IVD	-	pfam_Acyl-CoA_DH_N,superfamily_AcylCoA_DH/oxidase	ENSG00000128928		0.517	IVD-201	KNOWN	basic|appris_candidate	protein_coding	IVD	HGNC	protein_coding		66	0.00	0	C			40702971	40702971	+1	no_errors	ENST00000487418	ensembl	human	known	69_37n	frame_shift_del	36	16.28	7	DEL	0.998	-
KIAA1614	57710	genome.wustl.edu	37	1	180885810	180885810	+	Missense_Mutation	SNP	G	G	A			TCGA-EW-A2FV-01A-11D-A17D-09	TCGA-EW-A2FV-10A-01D-A17D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4688c20c-f73d-4203-a123-acc833628062	feca40a1-64e9-488f-8c06-809bf7058b96	g.chr1:180885810G>A	ENST00000367588.4	+	2	626	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	191										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						TCCAGAAGCCGAATGGACACT	0.662																																						dbGAP											0													56.0	61.0	60.0					1																	180885810		1898	4109	6007	-	-	-	SO:0001583	missense	0			AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.571G>A	1.37:g.180885810G>A	ENSP00000356560:p.Glu191Lys		Q5VZ45|Q9HCF8	Missense_Mutation	SNP	NULL	p.E191K	ENST00000367588.4	37	c.571	CCDS41442.1	1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.484850	0.26598	.	.	ENSG00000135835	ENST00000367588	T	0.05025	3.51	4.06	1.1	0.20463	.	2.443650	0.02038	N	0.049119	T	0.03959	0.0111	N	0.14661	0.345	0.22858	N	0.998648	B	0.33904	0.431	B	0.26770	0.073	T	0.33343	-0.9872	9	0.28530	T	0.3	2.1736	4.5074	0.11894	0.1936:0.0:0.6304:0.176	.	191	Q5VZ46	K1614_HUMAN	K	191	ENSP00000356560:E191K	ENSP00000356560:E191K	E	+	1	0	KIAA1614	179152433	0.000000	0.05858	0.074000	0.20217	0.006000	0.05464	0.213000	0.17521	0.134000	0.18681	-0.253000	0.11424	GAA	KIAA1614	-	NULL	ENSG00000135835		0.662	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1614	HGNC	protein_coding	OTTHUMT00000085151.1	26	0.00	0	G	XM_046531		180885810	180885810	+1	no_errors	ENST00000367588	ensembl	human	known	69_37n	missense	35	14.63	6	SNP	0.027	A
KIF13B	23303	genome.wustl.edu	37	8	29043966	29043966	+	Missense_Mutation	SNP	T	T	C			TCGA-EW-A2FV-01A-11D-A17D-09	TCGA-EW-A2FV-10A-01D-A17D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4688c20c-f73d-4203-a123-acc833628062	feca40a1-64e9-488f-8c06-809bf7058b96	g.chr8:29043966T>C	ENST00000524189.1	-	6	378	c.340A>G	c.(340-342)Atg>Gtg	p.M114V	KIF13B_ENST00000521515.1_Missense_Mutation_p.M114V	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	114	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GCTGTGCCCATCATGGTATAA	0.378																																						dbGAP											0													84.0	85.0	85.0					8																	29043966		1847	4096	5943	-	-	-	SO:0001583	missense	0			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.340A>G	8.37:g.29043966T>C	ENSP00000427900:p.Met114Val		B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.M114V	ENST00000524189.1	37	c.340	CCDS55217.1	8	.	.	.	.	.	.	.	.	.	.	T	16.30	3.085161	0.55861	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	D;D	0.87966	-2.32;-2.32	5.24	5.24	0.73138	Kinesin, motor domain (5);	0.000000	0.85682	D	0.000000	D	0.90614	0.7057	L	0.43646	1.37	0.80722	D	1	P;D;D	0.71674	0.95;0.998;0.972	D;D;D	0.74674	0.962;0.984;0.963	D	0.91602	0.5296	10	0.72032	D	0.01	.	15.3023	0.73962	0.0:0.0:0.0:1.0	.	100;114;114	C9JK41;Q9NQT8;F8VPJ2	.;KI13B_HUMAN;.	V	114	ENSP00000427900:M114V;ENSP00000429201:M114V	ENSP00000429201:M114V	M	-	1	0	KIF13B	29099885	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.868000	0.87116	2.202000	0.70862	0.528000	0.53228	ATG	KIF13B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	ENSG00000197892		0.378	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF13B	HGNC	protein_coding	OTTHUMT00000376878.1	72	0.00	0	T			29043966	29043966	-1	no_errors	ENST00000524189	ensembl	human	known	69_37n	missense	73	16.09	14	SNP	1.000	C
MAGEC2	51438	genome.wustl.edu	37	X	141290731	141290731	+	Missense_Mutation	SNP	A	A	G			TCGA-EW-A2FV-01A-11D-A17D-09	TCGA-EW-A2FV-10A-01D-A17D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4688c20c-f73d-4203-a123-acc833628062	feca40a1-64e9-488f-8c06-809bf7058b96	g.chrX:141290731A>G	ENST00000247452.3	-	3	1390	c.1043T>C	c.(1042-1044)aTt>aCt	p.I348T		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	348	Interaction with TRIM28.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TGCGGTATCAATTGTGGCCTG	0.468										HNSCC(46;0.14)																												dbGAP											0													164.0	138.0	147.0					X																	141290731		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.1043T>C	X.37:g.141290731A>G	ENSP00000354660:p.Ile348Thr		Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.I348T	ENST00000247452.3	37	c.1043	CCDS14678.1	X	.	.	.	.	.	.	.	.	.	.	-	0.023	-1.398427	0.01175	.	.	ENSG00000046774	ENST00000247452	T	0.02121	4.44	1.04	-0.331	0.12679	.	2.712170	0.02133	N	0.056573	T	0.03053	0.0090	L	0.46741	1.465	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.46693	-0.9173	10	0.33141	T	0.24	.	4.9821	0.14170	0.77:0.0:0.23:0.0	.	348	Q9UBF1	MAGC2_HUMAN	T	348	ENSP00000354660:I348T	ENSP00000354660:I348T	I	-	2	0	MAGEC2	141118397	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.650000	0.01991	-1.019000	0.03358	-2.003000	0.00443	ATT	MAGEC2	-	NULL	ENSG00000046774		0.468	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEC2	HGNC	protein_coding	OTTHUMT00000058611.1	113	0.00	0	A	NM_016249		141290731	141290731	-1	no_errors	ENST00000247452	ensembl	human	known	69_37n	missense	78	29.09	32	SNP	0.000	G
MARK2	2011	genome.wustl.edu	37	11	63670121	63670122	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EW-A2FV-01A-11D-A17D-09	TCGA-EW-A2FV-10A-01D-A17D-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4688c20c-f73d-4203-a123-acc833628062	feca40a1-64e9-488f-8c06-809bf7058b96	g.chr11:63670121_63670122delAG	ENST00000509502.2	+	13	1644_1645	c.1181_1182delAG	c.(1180-1182)cagfs	p.Q394fs	MARK2_ENST00000408948.3_Frame_Shift_Del_p.Q394fs|MARK2_ENST00000425897.2_Frame_Shift_Del_p.Q394fs|MARK2_ENST00000377810.3_Frame_Shift_Del_p.Q394fs|MARK2_ENST00000413835.2_Frame_Shift_Del_p.Q428fs|MARK2_ENST00000361128.5_Frame_Shift_Del_p.Q428fs|MARK2_ENST00000350490.7_Frame_Shift_Del_p.Q427fs|MARK2_ENST00000377809.4_Frame_Shift_Del_p.Q428fs|MARK2_ENST00000502399.3_Frame_Shift_Del_p.Q427fs|MARK2_ENST00000402010.2_Frame_Shift_Del_p.Q428fs|MARK2_ENST00000315032.8_Frame_Shift_Del_p.Q428fs|MARK2_ENST00000508192.1_Frame_Shift_Del_p.Q427fs|MARK2_ENST00000513765.2_Frame_Shift_Del_p.Q395fs	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						AAGAAGACTCAGAGTAACAACG	0.599																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.1181_1182delAG	11.37:g.63670123_63670124delAG	ENSP00000423974:p.Gln394fs			Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.S429fs	ENST00000509502.2	37	c.1283_1284	CCDS41665.1	11																																																																																			MARK2	-	NULL	ENSG00000072518		0.599	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	MARK2	HGNC	protein_coding	OTTHUMT00000360862.2	34	0.00	0	AG	NM_017490		63670121	63670122	+1	no_errors	ENST00000402010	ensembl	human	known	69_37n	frame_shift_del	31	16.22	6	DEL	1.000:1.000	-
NOTCH2	4853	genome.wustl.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-	rs372504208		TCGA-EW-A2FV-01A-11D-A17D-09	TCGA-EW-A2FV-10A-01D-A17D-09	GG	GG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4688c20c-f73d-4203-a123-acc833628062	feca40a1-64e9-488f-8c06-809bf7058b96	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cccfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													dbGAP		Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	2	Deletion - Frameshift(2)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)																																								-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.17_18delCC	1.37:g.120612005_120612006delGG	ENSP00000256646:p.Pro6fs		Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.P6fs	ENST00000256646.2	37	c.18_17	CCDS908.1	1																																																																																			NOTCH2	-	pirsf_Notch	ENSG00000134250		0.762	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	HGNC	protein_coding	OTTHUMT00000033679.1	10	0.00	0	GG	NM_024408		120612003	120612004	-1	no_errors	ENST00000256646	ensembl	human	known	69_37n	frame_shift_del	4	33.33	2	DEL	0.101:0.700	-
PADI6	353238	genome.wustl.edu	37	1	17699575	17699575	+	RNA	SNP	C	C	T			TCGA-EW-A2FV-01A-11D-A17D-09	TCGA-EW-A2FV-10A-01D-A17D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4688c20c-f73d-4203-a123-acc833628062	feca40a1-64e9-488f-8c06-809bf7058b96	g.chr1:17699575C>T	ENST00000434762.2	+	0	191							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGTGCCAGTGCTTCACCATCC	0.592																																						dbGAP											0													56.0	60.0	59.0					1																	17699575		2079	4204	6283	-	-	-			0			AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17699575C>T			Q330K5|Q70SX3	RNA	SNP	-	NULL	ENST00000434762.2	37	NULL		1																																																																																			PADI6	-	-	ENSG00000256049		0.592	PADI6-001	KNOWN	basic	processed_transcript	PADI6	HGNC	processed_transcript	OTTHUMT00000006804.4	74	0.00	0	C	NM_207421		17699575	17699575	+1	no_errors	ENST00000358481	ensembl	human	known	69_37n	rna	87	16.35	17	SNP	0.120	T
PARK2	5071	genome.wustl.edu	37	6	161969946	161969946	+	Silent	SNP	C	C	A			TCGA-EW-A2FV-01A-11D-A17D-09	TCGA-EW-A2FV-10A-01D-A17D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4688c20c-f73d-4203-a123-acc833628062	feca40a1-64e9-488f-8c06-809bf7058b96	g.chr6:161969946C>A	ENST00000366898.1	-	9	1125	c.1023G>T	c.(1021-1023)ctG>ctT	p.L341L	PARK2_ENST00000366897.1_Silent_p.L313L|PARK2_ENST00000338468.3_Silent_p.L150L|PARK2_ENST00000366894.1_Silent_p.L150L|PARK2_ENST00000366896.1_Silent_p.L192L|PARK2_ENST00000366892.1_Silent_p.L341L	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	341					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GCTCCGGCAGCAGCCCCGCTC	0.642																																						dbGAP											0													63.0	64.0	64.0					6																	161969946		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.1023G>T	6.37:g.161969946C>A			A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Silent	SNP	pfam_Ubiquitin,pfam_Znf_C6HC,pfam_SUMO,smart_Ubiquitin,smart_Znf_C6HC,pirsf_Parkin,prints_Parkin,prints_Ubiquitin_subgr,pfscan_Ubiquitin_supergroup	p.L341	ENST00000366898.1	37	c.1023	CCDS5281.1	6																																																																																			PARK2	-	pfam_Znf_C6HC,smart_Znf_C6HC,pirsf_Parkin,prints_Parkin	ENSG00000185345		0.642	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PARK2	HGNC	protein_coding	OTTHUMT00000042995.1	37	0.00	0	C			161969946	161969946	-1	no_errors	ENST00000366898	ensembl	human	known	69_37n	silent	27	27.03	10	SNP	1.000	A
PCDHAC2	56134	genome.wustl.edu	37	5	140347381	140347381	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A2FV-01A-11D-A17D-09	TCGA-EW-A2FV-10A-01D-A17D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4688c20c-f73d-4203-a123-acc833628062	feca40a1-64e9-488f-8c06-809bf7058b96	g.chr5:140347381C>T	ENST00000289269.5	+	1	1562	c.1030C>T	c.(1030-1032)Ccc>Tcc	p.P344S	PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	344	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTCCAGTGCCCATGGCAGG	0.582																																					Melanoma(190;638 2083 3390 11909 52360)	dbGAP											0													57.0	52.0	53.0					5																	140347381		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1030C>T	5.37:g.140347381C>T	ENSP00000289269:p.Pro344Ser		Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P344S	ENST00000289269.5	37	c.1030	CCDS4242.1	5	.	.	.	.	.	.	.	.	.	.	C	10.14	1.268996	0.23221	.	.	ENSG00000243232	ENST00000289269	T	0.55413	0.52	5.87	5.87	0.94306	Cadherin (5);Cadherin-like (1);	0.000000	0.41712	D	0.000831	T	0.48909	0.1526	L	0.58583	1.82	0.37390	D	0.912396	B;B	0.33807	0.162;0.426	B;B	0.32724	0.131;0.151	T	0.52895	-0.8514	10	0.31617	T	0.26	.	13.8287	0.63366	0.0:0.9216:0.0:0.0784	.	344;344	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	S	344	ENSP00000289269:P344S	ENSP00000289269:P344S	P	+	1	0	PCDHAC2	140327565	0.279000	0.24239	1.000000	0.80357	0.998000	0.95712	1.091000	0.30915	2.785000	0.95823	0.655000	0.94253	CCC	PCDHAC2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000243232		0.582	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHAC2	HGNC	protein_coding	OTTHUMT00000251802.2	50	0.00	0	C	NM_018899		140347381	140347381	+1	no_errors	ENST00000289269	ensembl	human	known	69_37n	missense	35	14.63	6	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-EW-A2FV-01A-11D-A17D-09	TCGA-EW-A2FV-10A-01D-A17D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4688c20c-f73d-4203-a123-acc833628062	feca40a1-64e9-488f-8c06-809bf7058b96	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	81	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	56	29.11	23	SNP	1.000	G
RRBP1	6238	genome.wustl.edu	37	20	17639786	17639786	+	Missense_Mutation	SNP	T	T	G	rs62207197		TCGA-EW-A2FV-01A-11D-A17D-09	TCGA-EW-A2FV-10A-01D-A17D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4688c20c-f73d-4203-a123-acc833628062	feca40a1-64e9-488f-8c06-809bf7058b96	g.chr20:17639786T>G	ENST00000377813.1	-	3	1670	c.1367A>C	c.(1366-1368)cAg>cCg	p.Q456P	RRBP1_ENST00000360807.4_Intron|RRBP1_ENST00000246043.4_Missense_Mutation_p.Q456P|RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000377807.2_Intron			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	456	41 X 10 AA approximate tandem repeats of [TN]-Q-[GSA]-[KRQT]-K-[ATGSV]-[ED]- [GTAS]-[ATIS]-[PQTAS].				osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GCCCTGGTTCTGGGCCCCCTC	0.667																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.1367A>C	20.37:g.17639786T>G	ENSP00000367044:p.Gln456Pro		A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom	p.Q456P	ENST00000377813.1	37	c.1367		20	.	.	.	.	.	.	.	.	.	.	T	6.903	0.536128	0.13188	.	.	ENSG00000125844	ENST00000377813;ENST00000246043	T;T	0.41758	0.99;0.99	4.63	-9.26	0.00662	.	0.751793	0.10590	N	0.656873	T	0.31575	0.0801	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27502	-1.0072	7	0.15499	T	0.54	5.7058	18.9803	0.92752	0.0:0.0:0.7129:0.2871	rs62207197	.	.	.	P	456	ENSP00000367044:Q456P;ENSP00000246043:Q456P	ENSP00000246043:Q456P	Q	-	2	0	RRBP1	17587786	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.516000	0.00954	-1.949000	0.01031	-0.488000	0.04728	CAG	RRBP1	-	NULL	ENSG00000125844		0.667	RRBP1-002	NOVEL	basic	protein_coding	RRBP1	HGNC	protein_coding	OTTHUMT00000078125.1	8	0.00	0	T	NM_001042576		17639786	17639786	-1	no_errors	ENST00000246043	ensembl	human	known	69_37n	missense	13	23.53	4	SNP	0.000	G
TNRC18	84629	genome.wustl.edu	37	7	5417112	5417112	+	Missense_Mutation	SNP	G	G	A	rs572656471		TCGA-EW-A2FV-01A-11D-A17D-09	TCGA-EW-A2FV-10A-01D-A17D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4688c20c-f73d-4203-a123-acc833628062	feca40a1-64e9-488f-8c06-809bf7058b96	g.chr7:5417112G>A	ENST00000430969.1	-	7	2699	c.2351C>T	c.(2350-2352)gCg>gTg	p.A784V	TNRC18_ENST00000399537.4_Missense_Mutation_p.A784V	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	784							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GCCCGCCAGCGCCGGGCCCCC	0.692													G|||	1	0.000199681	0.0	0.0	5008	,	,		13037	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													9.0	12.0	11.0					7																	5417112		1894	4087	5981	-	-	-	SO:0001583	missense	0			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.2351C>T	7.37:g.5417112G>A	ENSP00000395538:p.Ala784Val		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.A784V	ENST00000430969.1	37	c.2351	CCDS47534.1	7	.	.	.	.	.	.	.	.	.	.	G	12.84	2.058224	0.36277	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000413081	T;T	0.13901	2.55;2.55	4.86	1.99	0.26369	.	.	.	.	.	T	0.11665	0.0284	L	0.43152	1.355	0.19775	N	0.99995	B	0.24721	0.11	B	0.14023	0.01	T	0.22347	-1.0219	9	0.59425	D	0.04	.	7.6005	0.28073	0.1508:0.136:0.7132:0.0	.	784	O15417	TNC18_HUMAN	V	784;784;186	ENSP00000382452:A784V;ENSP00000395538:A784V	ENSP00000382452:A784V	A	-	2	0	TNRC18	5383638	0.980000	0.34600	0.009000	0.14445	0.718000	0.41266	4.378000	0.59568	0.100000	0.17581	0.561000	0.74099	GCG	TNRC18	-	NULL	ENSG00000182095		0.692	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding		28	0.00	0	G			5417112	5417112	-1	no_errors	ENST00000399537	ensembl	human	known	69_37n	missense	23	17.24	5	SNP	0.612	A
UBAP1	51271	genome.wustl.edu	37	9	34241537	34241537	+	Missense_Mutation	SNP	A	A	C			TCGA-EW-A2FV-01A-11D-A17D-09	TCGA-EW-A2FV-10A-01D-A17D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4688c20c-f73d-4203-a123-acc833628062	feca40a1-64e9-488f-8c06-809bf7058b96	g.chr9:34241537A>C	ENST00000297661.4	+	4	749	c.514A>C	c.(514-516)Aaa>Caa	p.K172Q	UBAP1_ENST00000543944.1_Missense_Mutation_p.K208Q|UBAP1_ENST00000540348.1_Missense_Mutation_p.K172Q|UBAP1_ENST00000545103.1_Missense_Mutation_p.K236Q|UBAP1_ENST00000379186.4_Missense_Mutation_p.K172Q|UBAP1_ENST00000359544.2_Missense_Mutation_p.K172Q|UBAP1_ENST00000536252.1_Missense_Mutation_p.K172Q	NM_016525.4	NP_057609.2	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	172					protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)	ubiquitin binding (GO:0043130)			endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			TCTGGAGTTAAAAACTATTGA	0.438																																					NSCLC(109;1074 1634 14978 20375 39620)	dbGAP											0													70.0	77.0	75.0					9																	34241537		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF222043	CCDS6550.1	9p13.3	2008-05-15	2002-08-27	2002-08-30	ENSG00000165006	ENSG00000165006			12461	protein-coding gene	gene with protein product		609787	"""ubiquitin associated protein"""	UBAP			Standard	NM_001171201		Approved		uc011loj.2	Q9NZ09	OTTHUMG00000000430	ENST00000297661.4:c.514A>C	9.37:g.34241537A>C	ENSP00000297661:p.Lys172Gln		B7Z348|B7Z8N9|D3DRL7|F5GXE2|F5H0J8|Q4V759|Q53FP7|Q5T7B3|Q6FI75|Q8NC52|Q8NCG6|Q8NCH9	Missense_Mutation	SNP	superfamily_UBA-like,pfscan_UBA/transl_elong_EF1B_N_euk	p.K236Q	ENST00000297661.4	37	c.706	CCDS6550.1	9	.	.	.	.	.	.	.	.	.	.	A	19.01	3.743577	0.69418	.	.	ENSG00000165006	ENST00000545103;ENST00000543944;ENST00000536252;ENST00000540348;ENST00000297661;ENST00000379186;ENST00000359544	T;T;T;T;T;T;T	0.56941	0.53;0.43;0.51;0.51;0.51;0.61;0.51	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.67757	0.2927	L	0.56280	1.765	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.69142	0.948;0.948;0.962;0.948	T	0.65274	-0.6208	10	0.38643	T	0.18	-25.0157	16.8222	0.85835	1.0:0.0:0.0:0.0	.	236;208;236;172	F5GXE2;F5H0J8;B7Z8N9;Q9NZ09	.;.;.;UBAP1_HUMAN	Q	236;208;172;172;172;172;172	ENSP00000441024:K236Q;ENSP00000439806:K208Q;ENSP00000440456:K172Q;ENSP00000439976:K172Q;ENSP00000297661:K172Q;ENSP00000368484:K172Q;ENSP00000352541:K172Q	ENSP00000297661:K172Q	K	+	1	0	UBAP1	34231537	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.371000	0.80710	0.533000	0.62120	AAA	UBAP1	-	NULL	ENSG00000165006		0.438	UBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP1	HGNC	protein_coding	OTTHUMT00000001084.1	92	0.00	0	A			34241537	34241537	+1	no_errors	ENST00000545103	ensembl	human	known	69_37n	missense	93	13.89	15	SNP	1.000	C
