#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_ ensembl_gene_id	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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	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	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_dbSNP	i_default_gene_name	i_deletion_substructures	i_domain	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	i_gene_name_source	i_gene_type	i_havana_transcript	i_n_alt_count	i_n_alt_count_full	i_n_alt_count_val	i_n_ref_count	i_n_ref_count_full	i_n_ref_count_val	i_normal_vaf	i_normal_vaf_val	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_t_alt_count_full	i_t_alt_count_val	i_t_ref_count_full	i_t_ref_count_val	i_tier	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_vaf	i_tumor_vaf_val	i_type	i_ucsc_cons	i_variant	t_alt_count	t_ref_count
SPEG	10290	genome.wustl.edu	37	2	220330645	220330656	+	Intron	DEL	GCGCGCGTGTGC	GCGCGCGTGTGC	-	rs370532066|rs1976618	byFrequency	TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	GCGCGCGTGTGC	GCGCGCGTGTGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr2:220330645_220330656delGCGCGCGTGTGC	ENST00000312358.7	+	10	3013				SPEG_ENST00000485813.1_Intron|SPEG_ENST00000396688.1_Intron|SPEG_ENST00000396698.1_Intron|SPEG_ENST00000396689.2_Intron|SPEG_ENST00000396686.1_Intron|SPEG_ENST00000396695.2_Intron	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus						cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		gtgtgtgtgtgcgcgcgtgtgcgtgcacgtgt	0.604													ENSG00000072195																																					0																																										SO:0001627	intron_variant	0				BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.2882-1240GCGCGCGTGTGC>-	2.37:g.220330645_220330656delGCGCGCGTGTGC			A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	R	DEL	-	NULL	ENST00000312358.7	37	NULL	CCDS42824.1	2																																																																																				SPEG	-	-		0.604	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	HGNC	protein_coding	OTTHUMT00000130252.2									GCGCGCGTGTGC	NM_005876		220330656	+1					tier1	no_errors	ENST00000462545	ensembl	human	known	74_37	rna			DEL	0.015:0.006:0.004:0.001:0.002:0.003:0.005:0.006:0.006:0.000:0.000:0.000	-		
TPTE	7179	genome.wustl.edu	37	21	10942923	10942923	+	Missense_Mutation	SNP	G	G	A	rs76723236	byFrequency	TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr21:10942923G>A	ENST00000361285.4	-	12	993	c.664C>T	c.(664-666)Cgg>Tgg	p.R222W	TPTE_ENST00000342420.5_Missense_Mutation_p.R184W|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.R204W	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	222					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCACTTACCCGCCTTCTTATC	0.318													ENSG00000166157																																					0													104.0	94.0	98.0					21																	10942923		2203	4299	6502	SO:0001583	missense	0			-	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.664C>T	21.37:g.10942923G>A	ENSP00000355208:p.Arg222Trp		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.R222W	ENST00000361285.4	37	c.664	CCDS13560.2	21	.	.	.	.	.	.	.	.	.	.	.	9.529	1.110372	0.20714	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.97455	-4.39;-4.39;-4.39	2.07	-0.258	0.12975	.	0.147653	0.64402	U	0.000017	D	0.92890	0.7738	N	0.14661	0.345	0.20196	N	0.999925	D;D;B	0.56521	0.976;0.976;0.042	B;P;B	0.52710	0.279;0.707;0.008	D	0.87285	0.2295	10	0.72032	D	0.01	-5.1188	4.2955	0.10899	0.1714:0.0:0.5546:0.2741	.	184;204;222	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	W	204;222;184	ENSP00000298232:R204W;ENSP00000355208:R222W;ENSP00000344441:R184W	ENSP00000298232:R204W	R	-	1	2	TPTE	9964794	0.985000	0.35326	0.103000	0.21229	0.018000	0.09664	0.502000	0.22594	-0.070000	0.12908	0.194000	0.17425	CGG	rs76723236	TPTE	-	NULL		0.318	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPTE	HGNC	protein_coding	OTTHUMT00000157413.1	0	0		153	153		0.00		G			10942923	-1	42		345		tier1	no_errors	ENST00000361285	ensembl	human	known	74_37	missense	10.82		SNP	0.999	A	42	345
LRRN1	57633	genome.wustl.edu	37	3	3886327	3886327	+	Start_Codon_SNP	SNP	T	T	A			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr3:3886327T>A	ENST00000319331.3	+	2	763	c.2T>A	c.(1-3)aTg>aAg	p.M1K	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	1						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CAAGCCAGCATGGCTAGGATG	0.433													ENSG00000175928																																					0													65.0	62.0	63.0					3																	3886327		2203	4300	6503	SO:0001582	initiator_codon_variant	0			-	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.2T>A	3.37:g.3886327T>A	ENSP00000314901:p.Met1Lys		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.M1K	ENST00000319331.3	37	c.2	CCDS33685.1	3	.	.	.	.	.	.	.	.	.	.	T	15.63	2.889732	0.52014	.	.	ENSG00000175928	ENST00000319331	T	0.55588	0.51	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.70159	0.3192	.	.	.	0.23616	N	0.997285	P	0.50156	0.932	P	0.61397	0.888	T	0.66276	-0.5964	9	0.87932	D	0	.	16.0843	0.81031	0.0:0.0:0.0:1.0	.	1	Q6UXK5	LRRN1_HUMAN	K	1	ENSP00000314901:M1K	ENSP00000314901:M1K	M	+	2	0	LRRN1	3861327	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	7.179000	0.77665	2.191000	0.70037	0.533000	0.62120	ATG	-	LRRN1	-	NULL		0.433	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRN1	HGNC	protein_coding	OTTHUMT00000337704.2	0	0		51	51		0.00		T	NM_020873	Missense_Mutation	3886327	+1	15		58		tier1	no_errors	ENST00000319331	ensembl	human	known	74_37	missense	20.55		SNP	1.000	A	15	58
PCSK5	5125	genome.wustl.edu	37	9	78773965	78773965	+	Missense_Mutation	SNP	C	C	A	rs551470745		TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr9:78773965C>A	ENST00000545128.1	+	12	2035	c.1497C>A	c.(1495-1497)aaC>aaA	p.N499K	PCSK5_ENST00000376752.4_Missense_Mutation_p.N499K|PCSK5_ENST00000376767.3_Missense_Mutation_p.N499K	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	499					anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ATAACCCCAACCGCCATGTCA	0.552													ENSG00000099139																																					0													168.0	148.0	155.0					9																	78773965		2203	4300	6503	SO:0001583	missense	0			-		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1497C>A	9.37:g.78773965C>A	ENSP00000446280:p.Asn499Lys		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel	p.N499K	ENST00000545128.1	37	c.1497	CCDS55320.1	9	.	.	.	.	.	.	.	.	.	.	C	19.50	3.838545	0.71373	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000376767;ENST00000396108;ENST00000376752;ENST00000424854	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	6.16	4.31	0.51392	.	0.039030	0.85682	D	0.000000	T	0.49287	0.1548	L	0.33668	1.02	0.50467	D	0.999878	B;B	0.25272	0.03;0.122	B;B	0.22386	0.013;0.039	T	0.52132	-0.8616	10	0.72032	D	0.01	-41.4783	9.7955	0.40733	0.0:0.6969:0.0:0.3031	.	499;499	Q92824-2;B1AMG5	.;.	K	499;202;499;499;499;172	ENSP00000446280:N499K;ENSP00000365958:N499K;ENSP00000365943:N499K;ENSP00000411654:N172K	ENSP00000365943:N499K	N	+	3	2	PCSK5	77963785	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.836000	0.27545	1.612000	0.50221	0.650000	0.86243	AAC	-	PCSK5	-	superfamily_Galactose-bd-like		0.552	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK5	HGNC	protein_coding		0	0		51	51		0.00		C			78773965	+1	9		62		tier1	no_errors	ENST00000545128	ensembl	human	known	74_37	missense	12.68		SNP	1.000	A	9	62
OR8D4	338662	genome.wustl.edu	37	11	123777441	123777441	+	Silent	SNP	G	G	T	rs74740497|rs201238608	byFrequency	TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr11:123777441G>T	ENST00000321355.2	+	1	333	c.303G>T	c.(301-303)ctG>ctT	p.L101L		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGATTCAGCTGTTTTTTTTCT	0.438													ENSG00000181518																																					0													229.0	230.0	230.0					11																	123777441		2202	4299	6501	SO:0001819	synonymous_variant	0			-	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.303G>T	11.37:g.123777441G>T			Q6IFE9	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L101	ENST00000321355.2	37	c.303	CCDS31698.1	11																																																																																			-	OR8D4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.438	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D4	HGNC	protein_coding	OTTHUMT00000387262.1	0	0		25	25		0.00		G	NM_001005197		123777441	+1	3		18		tier1	no_errors	ENST00000321355	ensembl	human	known	74_37	silent	14.29		SNP	0.220	T	3	18
CEP170P1	645455	genome.wustl.edu	37	4	119473438	119473438	+	RNA	SNP	G	G	A			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr4:119473438G>A	ENST00000412784.2	+	0	669					NR_003135.2		Q96L14	C170L_HUMAN	centrosomal protein 170kDa pseudogene 1								identical protein binding (GO:0042802)										TAGAAAAGCAGCTACAAGGTA	0.299													ENSG00000154608																																					0																																												0			-	BC014590		4q26	2010-10-11	2010-10-11	2010-10-11	ENSG00000154608	ENSG00000154608			28364	pseudogene	pseudogene			"""KIAA0470-like"", ""centrosomal protein 170kDa-like"""	KIAA0470L, CEP170L			Standard	NR_003135		Approved	MGC26143, FAM68B	uc003icb.3	Q96L14	OTTHUMG00000132958		4.37:g.119473438G>A				R	SNP	-	NULL	ENST00000412784.2	37	NULL		4																																																																																			-	CEP170P1	-	-		0.299	CEP170P1-002	KNOWN	basic	processed_transcript	CEP170P1	HGNC	pseudogene	OTTHUMT00000364033.2	0	0		48	48		0.00		G	NR_003135.2		119473438	+1	10		49		tier1	no_errors	ENST00000412784	ensembl	human	known	74_37	rna	16.95		SNP	0.999	A	10	49
CCK	885	genome.wustl.edu	37	3	42299608	42299608	+	Missense_Mutation	SNP	C	C	A	rs200351516		TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr3:42299608C>A	ENST00000396169.2	-	5	1235	c.330G>T	c.(328-330)gaG>gaT	p.E110D	CCK_ENST00000434608.1_Missense_Mutation_p.E110D|CCK_ENST00000334681.5_Missense_Mutation_p.E110D	NM_000729.4	NP_000720.1	P06307	CCKN_HUMAN	cholecystokinin	110					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axonogenesis (GO:0007409)|behavioral fear response (GO:0001662)|eating behavior (GO:0042755)|negative regulation of appetite (GO:0032099)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein oligomerization (GO:0032461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|release of cytochrome c from mitochondria (GO:0001836)|signal transduction (GO:0007165)	axon (GO:0030424)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|terminal bouton (GO:0043195)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6		Ovarian(412;0.0728)		KIRC - Kidney renal clear cell carcinoma(284;0.219)		GGTACTCATACTCCTCGGCAC	0.552													ENSG00000187094																																					0													107.0	98.0	101.0					3																	42299608		2203	4300	6503	SO:0001583	missense	0			-		CCDS2696.1	3p22.1	2013-02-25			ENSG00000187094	ENSG00000187094		"""Endogenous ligands"""	1569	protein-coding gene	gene with protein product	"""prepro-cholecystokinin"", ""cholecystokinin triacontatriapeptide"""	118440				3856870	Standard	NM_001174138		Approved		uc021wwk.1	P06307	OTTHUMG00000131796	ENST00000396169.2:c.330G>T	3.37:g.42299608C>A	ENSP00000379472:p.Glu110Asp			Missense_Mutation	SNP	pfam_Gastrin,smart_Gastrin	p.E110D	ENST00000396169.2	37	c.330	CCDS2696.1	3	.	.	.	.	.	.	.	.	.	.	C	15.77	2.932631	0.52866	.	.	ENSG00000187094	ENST00000396169;ENST00000334681;ENST00000434608	T;T;T	0.27104	1.69;1.69;1.69	5.7	1.63	0.23807	Gastrin/cholecystokinin peptide hormone (2);	0.146062	0.64402	N	0.000012	T	0.17323	0.0416	L	0.38953	1.18	0.43499	D	0.995741	B	0.22276	0.067	B	0.25291	0.059	T	0.05699	-1.0869	10	0.40728	T	0.16	-16.2998	5.7631	0.18211	0.0:0.3462:0.4548:0.1991	.	110	P06307	CCKN_HUMAN	D	110	ENSP00000379472:E110D;ENSP00000335657:E110D;ENSP00000409124:E110D	ENSP00000335657:E110D	E	-	3	2	CCK	42274612	0.995000	0.38212	0.999000	0.59377	0.958000	0.62258	0.608000	0.24223	0.634000	0.30469	0.650000	0.86243	GAG	-	CCK	-	pfam_Gastrin,smart_Gastrin		0.552	CCK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CCK	HGNC	protein_coding	OTTHUMT00000343380.1	0	0		70	70		0.00		C	NM_000729		42299608	-1	19		79		tier1	no_errors	ENST00000334681	ensembl	human	known	74_37	missense	19.39		SNP	0.998	A	19	79
SPO11	23626	genome.wustl.edu	37	20	55908249	55908249	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr20:55908249A>T	ENST00000371263.3	+	3	360	c.251A>T	c.(250-252)gAa>gTa	p.E84V	SPO11_ENST00000371260.4_Missense_Mutation_p.E46V|SPO11_ENST00000345868.4_Missense_Mutation_p.E46V	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	84					DNA catabolic process, endonucleolytic (GO:0000737)|female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|ovarian follicle development (GO:0001541)|protein localization to chromosome (GO:0034502)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|hydrolase activity (GO:0016787)			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			GACAGGTTTGAAGATTCTGTG	0.323								Editing and processing nucleases					ENSG00000054796																																					0													80.0	84.0	82.0					20																	55908249		2203	4300	6503	SO:0001583	missense	0			-	AF169385	CCDS13456.1, CCDS13457.1	20q13.31	2013-06-05	2013-06-05		ENSG00000054796	ENSG00000054796			11250	protein-coding gene	gene with protein product	"""cancer/testis antigen 35"", ""spermatogenesis associated 43"""	605114	"""SPO11, meiotic protein covalently bound to DSB (S. cerevisiae)-like"", ""SPO11 meiotic protein covalently bound to DSB-like (S. cerevisiae)"", ""SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae)"""			10534401	Standard	NM_012444		Approved	CT35, SPATA43, TOPVIA	uc002xye.3	Q9Y5K1	OTTHUMG00000032817	ENST00000371263.3:c.251A>T	20.37:g.55908249A>T	ENSP00000360310:p.Glu84Val		Q5TCI1|Q8N4V0|Q9NQM7|Q9NQM8	Missense_Mutation	SNP	pfam_Meiosis_Spo11,pfam_Spo11/TopoVI_A_N,superfamily_Spo11/TopoVI_A,prints_Meiotic_Spo11,prints_Spo11/TopoVI_A,prints_TopoVI_A	p.E84V	ENST00000371263.3	37	c.251	CCDS13456.1	20	.	.	.	.	.	.	.	.	.	.	A	15.29	2.789082	0.49997	.	.	ENSG00000054796	ENST00000371263;ENST00000345868;ENST00000371260;ENST00000418127	T;T;T;T	0.20738	2.18;2.05;2.05;2.19	5.39	4.27	0.50696	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.398475	0.30704	N	0.009049	T	0.17534	0.0421	L	0.44542	1.39	0.28984	N	0.888467	B;B	0.32573	0.376;0.164	B;B	0.29942	0.109;0.051	T	0.07462	-1.0771	10	0.30854	T	0.27	-12.4168	11.5955	0.50970	0.8514:0.1486:0.0:0.0	.	46;84	Q9Y5K1-2;Q9Y5K1	.;SPO11_HUMAN	V	84;46;46;62	ENSP00000360310:E84V;ENSP00000316034:E46V;ENSP00000360307:E46V;ENSP00000413185:E62V	ENSP00000316034:E46V	E	+	2	0	SPO11	55341656	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.443000	0.52907	0.961000	0.38030	0.482000	0.46254	GAA	-	SPO11	-	NULL		0.323	SPO11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPO11	HGNC	protein_coding	OTTHUMT00000079836.2	0	0		55	55		0.00		A	NM_012444		55908249	+1	16		130		tier1	no_errors	ENST00000371263	ensembl	human	known	74_37	missense	10.96		SNP	1.000	T	16	130
DDR2	4921	genome.wustl.edu	37	1	162722976	162722976	+	Silent	SNP	C	C	G	rs374354520		TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr1:162722976C>G	ENST00000367922.3	+	5	612	c.174C>G	c.(172-174)gcC>gcG	p.A58A	DDR2_ENST00000367921.3_Silent_p.A58A	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	58	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	CCACAGCTGCCAAATATGGAA	0.532													ENSG00000162733																									NSCLC(161;314 2006 8283 19651 23192)												0								C	,	0,4406		0,0,2203	87.0	78.0	81.0		174,174	4.2	1.0	1		81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	DDR2	NM_001014796.1,NM_006182.2	,	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	,	58/856,58/856	162722976	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.174C>G	1.37:g.162722976C>G			Q7Z730	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A58	ENST00000367922.3	37	c.174	CCDS1241.1	1																																																																																			-	DDR2	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.532	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDR2	HGNC	protein_coding	OTTHUMT00000083213.2	0	0		10	10		0.00		C	NM_006182		162722976	+1	5		15		tier1	no_errors	ENST00000367921	ensembl	human	known	74_37	silent	25.00		SNP	1.000	G	5	15
IFNAR1	3454	genome.wustl.edu	37	21	34697383	34697383	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr21:34697383C>A	ENST00000270139.3	+	1	175	c.23C>A	c.(22-24)gCg>gAg	p.A8E	IFNAR1_ENST00000442357.2_Missense_Mutation_p.A8E|IFNAR1_ENST00000416947.2_Intron|IFNAR1_ENST00000493503.1_Intron	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	8					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to virus (GO:0009615)|T cell activation (GO:0042110)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	type I interferon receptor activity (GO:0004905)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Natural alpha interferon(DB05258)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	CTCCTGGGCGCGACGACCCTA	0.682													ENSG00000142166																									Esophageal Squamous(73;817 1211 32990 35667 42746)												0													27.0	20.0	22.0					21																	34697383		2200	4298	6498	SO:0001583	missense	0			-		CCDS13624.1	21q22.1	2008-05-02			ENSG00000142166	ENSG00000142166		"""Interferons"""	5432	protein-coding gene	gene with protein product		107450		IFNAR		8181059	Standard	NM_000629		Approved	IFRC	uc002yrn.3	P17181	OTTHUMG00000065126	ENST00000270139.3:c.23C>A	21.37:g.34697383C>A	ENSP00000270139:p.Ala8Glu		B2R6L9|B4DNT3|D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	Missense_Mutation	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Interferon_alpha/beta_rcpt-1	p.A8E	ENST00000270139.3	37	c.23	CCDS13624.1	21	.	.	.	.	.	.	.	.	.	.	C	14.42	2.530070	0.45073	.	.	ENSG00000142166	ENST00000270139;ENST00000442071;ENST00000442357	T;T;T	0.64438	1.04;0.49;-0.1	3.33	1.51	0.23008	.	1.861860	0.02430	N	0.083468	T	0.76118	0.3943	M	0.73962	2.25	0.47737	D	0.999501	D	0.63880	0.993	D	0.66847	0.947	T	0.62586	-0.6823	10	0.87932	D	0	-3.5201	2.9153	0.05750	0.2174:0.5418:0.0:0.2409	.	8	P17181	INAR1_HUMAN	E	8	ENSP00000270139:A8E;ENSP00000400161:A8E;ENSP00000407406:A8E	ENSP00000270139:A8E	A	+	2	0	IFNAR1	33619253	0.000000	0.05858	0.058000	0.19502	0.869000	0.49853	0.032000	0.13732	0.409000	0.25649	0.655000	0.94253	GCG	-	IFR1	-	pirsf_Interferon_alpha/beta_rcpt-1		0.682	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFR1	HGNC	protein_coding	OTTHUMT00000139823.4	0	0		49	49		0.00		C			34697383	+1	21		52		tier1	no_errors	ENST00000270139	ensembl	human	known	74_37	missense	28.77		SNP	0.304	A	21	52
SBF2	81846	genome.wustl.edu	37	11	10051374	10051374	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr11:10051374A>G	ENST00000256190.8	-	5	588	c.451T>C	c.(451-453)Tcc>Ccc	p.S151P	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	151	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CTTTCCAAGGAGACATTCAGG	0.413													ENSG00000133812																																					0													205.0	205.0	205.0					11																	10051374		2201	4294	6495	SO:0001583	missense	0			-	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.451T>C	11.37:g.10051374A>G	ENSP00000256190:p.Ser151Pro		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.S151P	ENST00000256190.8	37	c.451	CCDS31427.1	11	.	.	.	.	.	.	.	.	.	.	A	10.54	1.378569	0.24944	.	.	ENSG00000133812	ENST00000256190	T	0.10192	2.9	5.54	4.41	0.53225	DENN (3);	0.277708	0.36101	N	0.002785	T	0.04363	0.0120	N	0.02213	-0.635	0.47065	D	0.9993	B	0.11235	0.004	B	0.17979	0.02	T	0.39251	-0.9623	9	.	.	.	.	11.3332	0.49487	0.9285:0.0:0.0715:0.0	.	151	Q86WG5	MTMRD_HUMAN	P	151	ENSP00000256190:S151P	.	S	-	1	0	SBF2	10007950	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.489000	0.73641	0.947000	0.37659	0.477000	0.44152	TCC	-	SBF2	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom		0.413	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SBF2	HGNC	protein_coding	OTTHUMT00000386911.2	0	0		45	45		0.00		A	NM_030962		10051374	-1	16		34		tier1	no_errors	ENST00000256190	ensembl	human	known	74_37	missense	32.00		SNP	1.000	G	16	34
RNF125	54941	genome.wustl.edu	37	18	29648272	29648272	+	Silent	SNP	A	A	T			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr18:29648272A>T	ENST00000217740.3	+	6	1116	c.624A>T	c.(622-624)atA>atT	p.I208I	RP11-53I6.2_ENST00000583184.1_RNA|RNF125_ENST00000583384.1_3'UTR	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase	208					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						ATTTTAATATAATTGAGGAAG	0.338													ENSG00000101695																																					0													42.0	44.0	43.0					18																	29648272		2198	4297	6495	SO:0001819	synonymous_variant	0			-	AK000463	CCDS11902.1	18q12.1	2013-01-09	2012-02-23		ENSG00000101695	ENSG00000101695		"""RING-type (C3HC4) zinc fingers"""	21150	protein-coding gene	gene with protein product		610432	"""ring finger protein 125"""				Standard	NM_017831		Approved	FLJ20456	uc002kxf.1	Q96EQ8	OTTHUMG00000132266	ENST00000217740.3:c.624A>T	18.37:g.29648272A>T			Q9NX39	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.I208	ENST00000217740.3	37	c.624	CCDS11902.1	18																																																																																			-	RNF125	-	NULL		0.338	RNF125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF125	HGNC	protein_coding	OTTHUMT00000255354.1	0	0		44	44		0.00		A	NM_017831		29648272	+1	14		50		tier1	no_errors	ENST00000217740	ensembl	human	known	74_37	silent	21.88		SNP	1.000	T	14	50
ASIC5	51802	genome.wustl.edu	37	4	156784866	156784866	+	Silent	SNP	T	T	C			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr4:156784866T>C	ENST00000537611.2	-	2	127	c.81A>G	c.(79-81)ccA>ccG	p.P27P	TDO2_ENST00000506181.1_Intron	NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	27					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)										GAGATGGCAGTGGTTTCTTTG	0.373													ENSG00000256394																																					0													102.0	103.0	103.0					4																	156784866		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"""amiloride-sensitive cation channel 5, intestinal"""	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.81A>G	4.37:g.156784866T>C				Silent	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC	p.P27	ENST00000537611.2	37	c.81	CCDS3793.1	4																																																																																			-	ASIC5	-	NULL		0.373	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC5	HGNC	protein_coding	OTTHUMT00000366464.1	0	0		52	52		0.00		T			156784866	-1	15		70		tier1	no_errors	ENST00000537611	ensembl	human	known	74_37	silent	17.65		SNP	0.012	C	15	70
GPN3	51184	genome.wustl.edu	37	12	110902999	110902999	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr12:110902999C>A	ENST00000228827.3	-	2	131	c.69G>T	c.(67-69)atG>atT	p.M23I	GPN3_ENST00000552180.1_5'UTR|GPN3_ENST00000543199.1_Missense_Mutation_p.M62I|GPN3_ENST00000537466.2_Missense_Mutation_p.M33I	NM_016301.3	NP_057385.3			GPN-loop GTPase 3											endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|urinary_tract(1)	8						AGTGCTGGACCATGGTGGCAC	0.493													ENSG00000111231																																					0													164.0	131.0	142.0					12																	110902999		2203	4300	6503	SO:0001583	missense	0			-	BC008416	CCDS9147.1, CCDS53830.1, CCDS53831.1	12q24.11	2012-12-18	2008-04-30	2008-04-30	ENSG00000111231	ENSG00000111231		"""GPN-loop GTPases"""	30186	protein-coding gene	gene with protein product			"""ATP binding domain 1 family, member C"""	ATPBD1C		12975309	Standard	NM_016301		Approved	MGC14560	uc021rdu.1	Q9UHW5	OTTHUMG00000169524	ENST00000228827.3:c.69G>T	12.37:g.110902999C>A	ENSP00000228827:p.Met23Ile			Missense_Mutation	SNP	pfam_Uncharacterised_ATP-bd,superfamily_P-loop_NTPase	p.M62I	ENST00000228827.3	37	c.186	CCDS9147.1	12	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285544	0.59867	.	.	ENSG00000111231	ENST00000228827;ENST00000543199;ENST00000537466;ENST00000550974	T;T;T;T	0.21191	2.25;2.25;2.25;2.02	5.95	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.18551	0.0445	L	0.35542	1.07	0.80722	D	1	B;B	0.16802	0.015;0.019	B;B	0.20767	0.031;0.016	T	0.03403	-1.1040	10	0.20519	T	0.43	-17.7725	16.7096	0.85381	0.1304:0.8696:0.0:0.0	.	33;23	Q9UHW5-2;Q9UHW5	.;GPN3_HUMAN	I	23;62;33;1	ENSP00000228827:M23I;ENSP00000442770:M62I;ENSP00000443068:M33I;ENSP00000447480:M1I	ENSP00000228827:M23I	M	-	3	0	GPN3	109387382	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.619000	0.54196	1.523000	0.49018	0.563000	0.77884	ATG	-	GPN3	-	pfam_Uncharacterised_ATP-bd,superfamily_P-loop_NTPase		0.493	GPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPN3	HGNC	protein_coding	OTTHUMT00000404607.1	0	0		47	47		0.00		C	NM_016301		110902999	-1	25		43		tier1	no_errors	ENST00000543199	ensembl	human	known	74_37	missense	36.76		SNP	1.000	A	25	43
BEND7	222389	genome.wustl.edu	37	10	13570570	13570584	+	5'Flank	DEL	GCGGCAGCGGCGGCA	GCGGCAGCGGCGGCA	-	rs184014070		TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	GCGGCAGCGGCGGCA	GCGGCAGCGGCGGCA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr10:13570570_13570584delGCGGCAGCGGCGGCA	ENST00000396900.2	-	0	0				RP11-214D15.2_ENST00000438431.1_RNA|BEND7_ENST00000396898.2_5'Flank			Q8N7W2	BEND7_HUMAN	BEN domain containing 7							extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						tgaggaggcggcggcagcggcggcagcggcagcgg	0.735													ENSG00000227175																																					0																																										SO:0001631	upstream_gene_variant	0				BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"""BEN domain containing"""	23514	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 30"""	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699		10.37:g.13570570_13570584delGCGGCAGCGGCGGCA	Exception_encountered		Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	R	DEL	-	NULL	ENST00000396900.2	37	NULL		10																																																																																				RP11-214D15.2	-	-		0.735	BEND7-202	KNOWN	basic	protein_coding	ENSG00000227175	Clone_based_vega_gene	protein_coding										GCGGCAGCGGCGGCA	NM_152751		13570584	+1					tier1	no_errors	ENST00000438431	ensembl	human	known	74_37	rna			DEL	0.005:0.008:0.010:0.011:0.013:0.013:0.014:0.014:0.013:0.013:0.012:0.010:0.008:0.006:0.003	-		
COL4A5	1287	genome.wustl.edu	37	X	107924142	107924142	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chrX:107924142G>C	ENST00000361603.2	+	44	4269	c.4025G>C	c.(4024-4026)gGa>gCa	p.G1342A	COL4A5_ENST00000328300.6_Missense_Mutation_p.G1348A	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1342	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGAGTACCTGGATCAGCTGGC	0.443									Alport syndrome with Diffuse Leiomyomatosis				ENSG00000188153																																					0													131.0	121.0	124.0					X																	107924142		2203	4299	6502	SO:0001583	missense	0	Familial Cancer Database		-	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4025G>C	X.37:g.107924142G>C	ENSP00000354505:p.Gly1342Ala		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G1348A	ENST00000361603.2	37	c.4043	CCDS14543.1	X	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013667	0.75161	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.99607	-6.27;-6.27	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.99796	0.9913	H	0.97103	3.94	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.996	D	0.96890	0.9652	10	0.72032	D	0.01	.	18.2781	0.90089	0.0:0.0:1.0:0.0	.	1345;1342	E7EVY4;P29400	.;CO4A5_HUMAN	A	1348;1342;1348	ENSP00000331902:G1348A;ENSP00000354505:G1342A	ENSP00000331902:G1348A	G	+	2	0	COL4A5	107810798	1.000000	0.71417	0.982000	0.44146	0.513000	0.34164	9.076000	0.94009	2.255000	0.74692	0.506000	0.49869	GGA	-	COL4A5	-	pfam_Collagen		0.443	COL4A5-001	KNOWN	basic|CCDS	protein_coding	COL4A5	HGNC	protein_coding	OTTHUMT00000057880.2	0	0		40	40		0.00		G			107924142	+1	9		39		tier1	no_errors	ENST00000328300	ensembl	human	known	74_37	missense	18.75		SNP	1.000	C	9	39
CTNND2	1501	genome.wustl.edu	37	5	10973707	10973707	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr5:10973707C>T	ENST00000304623.8	-	22	3725	c.3536G>A	c.(3535-3537)cGc>cAc	p.R1179H	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.R1121H|CTNND2_ENST00000511377.1_Missense_Mutation_p.R1088H|CTNND2_ENST00000458100.2_Missense_Mutation_p.R746H|CTNND2_ENST00000503622.1_Missense_Mutation_p.R842H	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1179					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGCGGGAGGGCGATGGTGGAC	0.532													ENSG00000169862																																					0													139.0	119.0	126.0					5																	10973707		2203	4300	6503	SO:0001583	missense	0			-	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.3536G>A	5.37:g.10973707C>T	ENSP00000307134:p.Arg1179His		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R1179H	ENST00000304623.8	37	c.3536	CCDS3881.1	5	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808875	0.70797	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	T;T;T;T;T	0.78816	-1.07;-1.15;-1.07;-1.21;-1.2	5.93	5.93	0.95920	.	0.184770	0.46145	D	0.000316	T	0.69851	0.3157	N	0.08118	0	0.80722	D	1	D;D;D	0.67145	0.979;0.979;0.996	P;P;P	0.48270	0.556;0.556;0.572	T	0.75599	-0.3262	10	0.56958	D	0.05	-21.0892	20.3368	0.98748	0.0:1.0:0.0:0.0	.	842;771;1179	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	H	1179;1121;1088;274;746;842	ENSP00000307134:R1179H;ENSP00000352661:R1121H;ENSP00000426510:R1088H;ENSP00000391155:R746H;ENSP00000426887:R842H	ENSP00000307134:R1179H	R	-	2	0	CTNND2	11026707	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.805000	0.96524	0.655000	0.94253	CGC	-	CTNND2	-	NULL		0.532	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNND2	HGNC	protein_coding	OTTHUMT00000206999.1	0	0		60	60		0.00		C	NM_001332		10973707	-1	13		93		tier1	no_errors	ENST00000304623	ensembl	human	known	74_37	missense	12.15		SNP	1.000	T	13	93
BLOC1S2	282991	genome.wustl.edu	37	10	102039885	102039885	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr10:102039885delT	ENST00000370372.2	-	4	445	c.393delA	c.(391-393)aaafs	p.K131fs	BLOC1S2_ENST00000441611.1_Frame_Shift_Del_p.K88fs|BLOC1S2_ENST00000361832.2_5'Flank	NM_173809.4	NP_776170.2	Q6QNY1	BL1S2_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 2	131					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|melanosome organization (GO:0032438)|microtubule nucleation (GO:0007020)|mitochondrial outer membrane permeabilization (GO:0097345)|neuron projection development (GO:0031175)|platelet dense granule organization (GO:0060155)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	BLOC-1 complex (GO:0031083)|centrosome (GO:0005813)|gamma-tubulin complex (GO:0000930)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	gamma-tubulin binding (GO:0043015)|protein C-terminus binding (GO:0008022)			large_intestine(1)|lung(2)|ovary(1)	4		Colorectal(252;0.117)		Epithelial(162;2.44e-10)|all cancers(201;1.97e-08)		GGTTACCCAGTTTTTTTGAAT	0.388													ENSG00000196072																																					0													100.0	101.0	101.0					10																	102039885		2203	4300	6503	SO:0001589	frameshift_variant	0				AK054697	CCDS7490.1, CCDS73179.1	10q24.31	2012-08-01	2008-08-11		ENSG00000196072	ENSG00000196072		"""Biogenesis of lysosomal organelles complex-1 subunits"""	20984	protein-coding gene	gene with protein product	"""centrosome protein oncogene"", ""Biogenesis of Lysosome-related Organelles complex-1 Subunit 2"", ""BLOC-1 subunit 2"""	609768				11483580, 15102850	Standard	NM_173809		Approved	MGC10120, FLJ30135, BLOS2	uc001kqw.2	Q6QNY1	OTTHUMG00000018908	ENST00000370372.2:c.393delA	10.37:g.102039885delT	ENSP00000359398:p.Lys131fs		B4DQV2|Q5W040|Q8WUI8	Frame_Shift_Del	DEL	pfam_BLOC1_su2	p.K131fs	ENST00000370372.2	37	c.393	CCDS7490.1	10																																																																																				BLOC1S2	-	pfam_BLOC1_su2		0.388	BLOC1S2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BLOC1S2	HGNC	protein_coding	OTTHUMT00000049861.2	0	0		34	34		0.00		T	NM_173809		102039885	-1	3		29		tier1	no_errors	ENST00000370372	ensembl	human	known	74_37	frame_shift_del	9.38		DEL	1.000	-	3	29
TAS2R39	259285	genome.wustl.edu	37	7	142881433	142881433	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr7:142881433T>A	ENST00000446620.1	+	1	922	c.922T>A	c.(922-924)Tca>Aca	p.S308T		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	308					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					TGCCAGCCACTCAATTCTACT	0.478													ENSG00000236398																																					0													49.0	48.0	48.0					7																	142881433		1890	4115	6005	SO:0001583	missense	0			-	AF494230	CCDS47729.1	7q34	2012-08-22			ENSG00000236398	ENSG00000236398		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18886	protein-coding gene	gene with protein product						12379855	Standard	NM_176881		Approved		uc011ksw.2	P59534	OTTHUMG00000152636	ENST00000446620.1:c.922T>A	7.37:g.142881433T>A	ENSP00000405095:p.Ser308Thr		A4FUI7|Q3ZCN6|Q645W4	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.S308T	ENST00000446620.1	37	c.922	CCDS47729.1	7	.	.	.	.	.	.	.	.	.	.	T	12.53	1.964782	0.34659	.	.	ENSG00000236398	ENST00000446620	T	0.37411	1.2	4.8	4.8	0.61643	.	.	.	.	.	T	0.62853	0.2462	M	0.87097	2.86	0.27749	N	0.9442	D	0.89917	1.0	D	0.79108	0.992	T	0.59236	-0.7492	9	0.59425	D	0.04	.	10.5402	0.45029	0.1444:0.0:0.0:0.8556	.	308	P59534	T2R39_HUMAN	T	308	ENSP00000405095:S308T	ENSP00000405095:S308T	S	+	1	0	TAS2R39	142591555	0.258000	0.24033	0.138000	0.22173	0.022000	0.10575	1.450000	0.35134	2.156000	0.67533	0.528000	0.53228	TCA	-	TAS2R39	-	pfam_TAS2_rcpt		0.478	TAS2R39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R39	HGNC	protein_coding	OTTHUMT00000327090.2	0	0		33	33		0.00		T	NM_176881		142881433	+1	8		35		tier1	no_errors	ENST00000446620	ensembl	human	known	74_37	missense	18.60		SNP	0.769	A	8	35
SLC24A2	25769	genome.wustl.edu	37	9	19516346	19516346	+	Silent	SNP	A	A	G			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr9:19516346A>G	ENST00000341998.2	-	10	1852	c.1791T>C	c.(1789-1791)gcT>gcC	p.A597A	SLC24A2_ENST00000286344.3_Silent_p.A580A	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	597					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TGCTGCTGACAGCCACTGGCT	0.547													ENSG00000155886																																					0													58.0	53.0	55.0					9																	19516346		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.1791T>C	9.37:g.19516346A>G			B7ZLL8|Q9NTN5|Q9NZQ4	Silent	SNP	pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger	p.A597	ENST00000341998.2	37	c.1791	CCDS6493.1	9																																																																																			-	SLC24A2	-	pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger		0.547	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A2	HGNC	protein_coding	OTTHUMT00000051866.2	0	0		27	27		0.00		A	NM_020344		19516346	-1	6		30		tier1	no_errors	ENST00000341998	ensembl	human	known	74_37	silent	16.67		SNP	0.011	G	6	30
EYS	346007	genome.wustl.edu	37	6	64791889	64791889	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr6:64791889C>A	ENST00000370621.3	-	32	6957	c.6431G>T	c.(6430-6432)gGt>gTt	p.G2144V	EYS_ENST00000503581.1_Missense_Mutation_p.G2144V|EYS_ENST00000370616.2_Missense_Mutation_p.G2144V			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	2144					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AAAGAATAAACCTGCATCTAA	0.313													ENSG00000188107																																					0													51.0	43.0	45.0					6																	64791889		692	1582	2274	SO:0001583	missense	0			-		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.6431G>T	6.37:g.64791889C>A	ENSP00000359655:p.Gly2144Val		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.G2144V	ENST00000370621.3	37	c.6431		6	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569850	0.28003	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	T;D;D	0.81579	-1.49;-1.51;-1.51	5.42	-10.8	0.00216	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.29028	0.0721	N	0.16233	0.39	0.09310	N	1	B;B	0.16802	0.019;0.003	B;B	0.12156	0.007;0.002	T	0.11131	-1.0600	9	0.13470	T	0.59	.	3.4773	0.07589	0.1474:0.1058:0.2309:0.5159	.	2144;2144	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	V	2144	ENSP00000424243:G2144V;ENSP00000359655:G2144V;ENSP00000359650:G2144V	ENSP00000359650:G2144V	G	-	2	0	EYS	64849848	0.000000	0.05858	0.000000	0.03702	0.411000	0.31082	-0.112000	0.10791	-2.400000	0.00579	-0.311000	0.09066	GGT	-	EYS	-	superfamily_ConA-like_lec_gl_sf		0.313	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	0	0		42	42		0.00		C	XM_294050		64791889	-1	10		99		tier1	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	9.17		SNP	0.000	A	10	99
TNC	3371	genome.wustl.edu	37	9	117849123	117849123	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr9:117849123T>A	ENST00000350763.4	-	3	1298	c.887A>T	c.(886-888)gAg>gTg	p.E296V	TNC_ENST00000346706.3_Missense_Mutation_p.E296V|TNC_ENST00000542877.1_Missense_Mutation_p.E296V|TNC_ENST00000423613.2_Missense_Mutation_p.E296V|TNC_ENST00000535648.1_Missense_Mutation_p.E296V|TNC_ENST00000537320.1_Missense_Mutation_p.E296V|TNC_ENST00000340094.3_Missense_Mutation_p.E296V|TNC_ENST00000345230.3_Missense_Mutation_p.E296V|TNC_ENST00000341037.4_Missense_Mutation_p.E296V	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	296	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GCACTCATTCTCCACGCATCG	0.557													ENSG00000041982																																					0													232.0	173.0	193.0					9																	117849123		2203	4300	6503	SO:0001583	missense	0			-		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.887A>T	9.37:g.117849123T>A	ENSP00000265131:p.Glu296Val		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.E296V	ENST00000350763.4	37	c.887	CCDS6811.1	9	.	.	.	.	.	.	.	.	.	.	T	20.7	4.037971	0.75617	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8;2.8;2.8;2.8;2.8	5.56	5.56	0.83823	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.200501	0.50627	D	0.000110	T	0.18635	0.0447	L	0.56769	1.78	0.37736	D	0.925457	P;P	0.46859	0.791;0.885	B;P	0.46585	0.392;0.521	T	0.02015	-1.1229	10	0.72032	D	0.01	.	15.1655	0.72821	0.0:0.0:0.0:1.0	.	296;296	E9PC84;P24821	.;TENA_HUMAN	V	296	ENSP00000344400:E296V;ENSP00000438152:E296V;ENSP00000344555:E296V;ENSP00000345861:E296V;ENSP00000265131:E296V;ENSP00000339553:E296V;ENSP00000411406:E296V;ENSP00000443478:E296V;ENSP00000442242:E296V	ENSP00000344400:E296V	E	-	2	0	TNC	116888944	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	4.737000	0.62066	2.238000	0.73509	0.460000	0.39030	GAG	-	TNC	-	pfam_EGF_extracell,smart_EG-like_dom,pfscan_EG-like_dom		0.557	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	HGNC	protein_coding	OTTHUMT00000055418.2	0	0		26	26		0.00		T	NM_002160		117849123	-1	4		29		tier1	no_errors	ENST00000350763	ensembl	human	known	74_37	missense	12.12		SNP	1.000	A	4	29
GRAMD1B	57476	genome.wustl.edu	37	11	123479374	123479374	+	Silent	SNP	C	C	A			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr11:123479374C>A	ENST00000529750.1	+	11	1419	c.1092C>A	c.(1090-1092)gtC>gtA	p.V364V	GRAMD1B_ENST00000450171.2_Silent_p.V55V|GRAMD1B_ENST00000456860.2_Silent_p.V371V|GRAMD1B_ENST00000322282.7_Silent_p.V364V	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	364						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		CAGGAGAGGTCCAGGCCTTCT	0.567													ENSG00000023171																																					0													43.0	44.0	43.0					11																	123479374		2004	4168	6172	SO:0001819	synonymous_variant	0			-	AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.1092C>A	11.37:g.123479374C>A			Q6UW85|Q9ULL9	Silent	SNP	pfam_GRAM,smart_GRAM	p.V364	ENST00000529750.1	37	c.1092	CCDS53720.1	11																																																																																			-	GRAMD1B	-	NULL		0.567	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRAMD1B	HGNC	protein_coding	OTTHUMT00000387404.2	0	0		26	26		0.00		C	XM_370660		123479374	+1	9		26		tier1	no_errors	ENST00000322282	ensembl	human	known	74_37	silent	25.71		SNP	1.000	A	9	26
TFAP2D	83741	genome.wustl.edu	37	6	50696680	50696680	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr6:50696680G>A	ENST00000008391.3	+	4	938	c.710G>A	c.(709-711)cGc>cAc	p.R237H	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					GTAAAGAGGCGCCTCTCCCCA	0.473													ENSG00000008197																																					0													105.0	103.0	104.0					6																	50696680		2203	4300	6503	SO:0001583	missense	0			-	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.710G>A	6.37:g.50696680G>A	ENSP00000008391:p.Arg237His			Missense_Mutation	SNP	pfam_TF_AP2_C,prints_TF_AP2_C	p.R237H	ENST00000008391.3	37	c.710	CCDS4933.1	6	.	.	.	.	.	.	.	.	.	.	G	35	5.511803	0.96402	.	.	ENSG00000008197	ENST00000008391	D	0.99042	-5.36	5.97	5.97	0.96955	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99405	0.9790	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99320	1.0906	10	0.62326	D	0.03	-16.1487	20.4387	0.99107	0.0:0.0:1.0:0.0	.	237	Q7Z6R9	AP2D_HUMAN	H	237	ENSP00000008391:R237H	ENSP00000008391:R237H	R	+	2	0	TFAP2D	50804639	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.836000	0.97738	0.655000	0.94253	CGC	-	TFAP2D	-	pfam_TF_AP2_C		0.473	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2D	HGNC	protein_coding	OTTHUMT00000040881.1	0	0		37	37		0.00		G	NM_172238		50696680	+1	13		58		tier1	no_errors	ENST00000008391	ensembl	human	known	74_37	missense	18.31		SNP	1.000	A	13	58
NOS3	4846	genome.wustl.edu	37	7	150691049	150691049	+	Splice_Site	SNP	G	G	T			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr7:150691049G>T	ENST00000484524.1	+	1	158	c.158G>T	c.(157-159)aGc>aTc	p.S53I	NOS3_ENST00000461406.1_Intron|NOS3_ENST00000297494.3_Splice_Site_p.S53I|NOS3_ENST00000467517.1_Splice_Site_p.S53I	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	47					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCAGAACACAGGTAAGGGCCA	0.682													ENSG00000164867																																					0													9.0	10.0	10.0					7																	150691049		2117	4195	6312	SO:0001630	splice_region_variant	0			-		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.158+1G>T	7.37:g.150691049G>T			Q495E5	Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/D-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.S53I	ENST00000484524.1	37	c.158	CCDS55182.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.08|16.08	3.021963|3.021963	0.54576|0.54576	.|.	.|.	ENSG00000164867|ENSG00000164867	ENST00000484576|ENST00000297494;ENST00000484524;ENST00000467517	.|T;T;T	.|0.15017	.|4.64;2.88;2.46	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	.|2.843040	.|0.01521	.|N	.|0.018356	T|T	0.27454|0.27454	0.0674|0.0674	N|N	0.08118|0.08118	0|0	0.42193|0.42193	D|D	0.991736|0.991736	.|D;D;D;D	.|0.61697	.|0.99;0.99;0.99;0.972	.|D;D;D;P	.|0.66497	.|0.944;0.944;0.944;0.766	T|T	0.13602|0.13602	-1.0503|-1.0503	6|10	0.72032|0.40728	D|T	0.01|0.16	.|.	14.2007|14.2007	0.65703|0.65703	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|53;53;53;53	.|A0S0A6;E9PFR2;A0S0A8;P29474	.|.;.;.;NOS3_HUMAN	M|I	53|53	.|ENSP00000297494:S53I;ENSP00000420215:S53I;ENSP00000420551:S53I	ENSP00000418338:R53M|ENSP00000297494:S53I	R|S	+|+	2|2	0|0	NOS3|NOS3	150321982|150321982	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.813000|0.813000	0.45954|0.45954	4.827000|4.827000	0.62723|0.62723	2.422000|2.422000	0.82143|0.82143	0.579000|0.579000	0.79373|0.79373	AGG|AGC	-	NOS3	-	pirsf_NOS_euk		0.682	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS3	HGNC	protein_coding	OTTHUMT00000351550.1	0	0		70	70		0.00		G	NM_000603	Missense_Mutation	150691049	+1	14		102		tier1	no_errors	ENST00000297494	ensembl	human	known	74_37	missense	11.97		SNP	1.000	T	14	102
PNPLA3	80339	genome.wustl.edu	37	22	44335890	44335890	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr22:44335890A>T	ENST00000216180.3	+	7	1170	c.997A>T	c.(997-999)Aaa>Taa	p.K333*	PNPLA3_ENST00000423180.2_Nonsense_Mutation_p.K329*	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	333					acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	diolein transacylation activity (GO:0051265)|mono-olein transacylation activity (GO:0051264)|phospholipase A2 activity (GO:0004623)|triglyceride lipase activity (GO:0004806)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				TGAAGAAATGAAAGACAAAGG	0.418													ENSG00000100344																																					0													161.0	148.0	152.0					22																	44335890		2203	4300	6503	SO:0001587	stop_gained	0			-		CCDS14054.1	22q13.31	2014-03-14	2006-05-26	2006-05-26	ENSG00000100344	ENSG00000100344	3.1.1.3	"""Patatin-like phospholipase domain containing"""	18590	protein-coding gene	gene with protein product		609567	"""chromosome 22 open reading frame 20"", ""adiponutrin"""	C22orf20, ADPN		16799181, 19029121	Standard	NM_025225		Approved	dJ796I17.1, FLJ22012, adiponutrin, iPLA2epsilon	uc003bei.1	Q9NST1	OTTHUMG00000150555	ENST00000216180.3:c.997A>T	22.37:g.44335890A>T	ENSP00000216180:p.Lys333*		B0QYI0|B2RCL3|B3KW00|Q6P1A1|Q96CB4	Nonsense_Mutation	SNP	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	p.K333*	ENST00000216180.3	37	c.997	CCDS14054.1	22	.	.	.	.	.	.	.	.	.	.	A	33	5.197420	0.94960	.	.	ENSG00000100344	ENST00000216180;ENST00000423180	.	.	.	5.3	4.27	0.50696	.	0.899372	0.09383	N	0.809666	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.7297	8.0992	0.30846	0.9077:0.0:0.0923:0.0	.	.	.	.	X	333;329	.	ENSP00000216180:K333X	K	+	1	0	PNPLA3	42667223	0.082000	0.21442	0.007000	0.13788	0.011000	0.07611	3.224000	0.51238	0.842000	0.35045	0.374000	0.22700	AAA	-	PNPLA3	-	NULL		0.418	PNPLA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PNPLA3	HGNC	protein_coding	OTTHUMT00000318891.1	0	0		52	52		0.00		A	NM_025225		44335890	+1	19		55		tier1	no_errors	ENST00000216180	ensembl	human	known	74_37	nonsense	25.68		SNP	0.077	T	19	55
INTS6-AS1	100507398	genome.wustl.edu	37	13	52035325	52035325	+	RNA	SNP	C	C	A			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr13:52035325C>A	ENST00000594959.1	+	0	411				INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000601034.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000597745.1_RNA|INTS6-AS1_ENST00000599315.1_RNA|INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000593928.1_RNA|INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000594604.1_RNA|INTS6-AS1_ENST00000434512.1_RNA|INTS6-AS1_ENST00000600477.1_RNA|INTS6-AS1_ENST00000595435.1_RNA|INTS6-AS1_ENST00000596303.1_RNA|INTS6-AS1_ENST00000596180.1_RNA|INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000593429.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|RPS4XP16_ENST00000595905.1_RNA|INTS6-AS1_ENST00000593709.1_RNA|INTS6-AS1_ENST00000594488.1_RNA					INTS6 antisense RNA 1																		TGCCACTCAACTTTCCAACAT	0.458													ENSG00000224892																																					0																																												0			-	AA397528		13q14.3	2012-10-12	2012-08-15		ENSG00000236778	ENSG00000236778		"""Long non-coding RNAs"""	42691	non-coding RNA	RNA, long non-coding			"""INTS6 antisense RNA 1 (non-protein coding)"""				Standard	NR_103812		Approved				OTTHUMG00000016944		13.37:g.52035325C>A				R	SNP	-	NULL	ENST00000594959.1	37	NULL		13																																																																																			-	RPS4XP16	-	-		0.458	INTS6-AS1-006	KNOWN	basic	antisense	RPS4XP16	HGNC	antisense	OTTHUMT00000462289.1	0	0		40	40		0.00		C			52035325	+1	4		41		tier1	no_errors	ENST00000595905	ensembl	human	known	74_37	rna	8.89		SNP	1.000	A	4	41
NCOA3	8202	genome.wustl.edu	37	20	46279839	46279839	+	Silent	SNP	G	G	A	rs147879509|rs2664555|rs397778717|rs3830809		TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr20:46279839G>A	ENST00000371998.3	+	20	3956	c.3765G>A	c.(3763-3765)caG>caA	p.Q1255Q	NCOA3_ENST00000372004.3_Silent_p.Q1251Q|NCOA3_ENST00000371997.3_Silent_p.Q1246Q|NCOA3_ENST00000341724.6_Silent_p.Q1181Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1255	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q1255delQ(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcaacagcagcagcagc	0.557													ENSG00000124151																																					1	Deletion - In frame(1)	upper_aerodigestive_tract(1)											41.0	44.0	43.0					20																	46279839		2202	4300	6502	SO:0001819	synonymous_variant	0			-	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3765G>A	20.37:g.46279839G>A			A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom	p.Q1255	ENST00000371998.3	37	c.3765	CCDS13407.1	20																																																																																			rs2664555	NCOA3	-	pirsf_Nuclear_rcpt_coactivator		0.557	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA3	HGNC	protein_coding	OTTHUMT00000080405.1	0	0		37	37		0.00		G	NM_006534		46279839	+1	5		49		tier1	no_errors	ENST00000371998	ensembl	human	known	74_37	silent	9.26		SNP	0.598	A	5	49
TRIM13	10206	genome.wustl.edu	37	13	50570574	50570574	+	5'Flank	DEL	T	T	-			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr13:50570574delT	ENST00000378182.3	+	0	0				TRIM13_ENST00000420995.2_5'Flank|MIR3613_ENST00000579844.1_RNA|TRIM13_ENST00000457662.2_5'Flank|TRIM13_ENST00000356017.4_5'Flank	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13						anatomical structure morphogenesis (GO:0009653)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell death (GO:0010942)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macroautophagy (GO:0016239)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		AGGGTTGGGCTTTTTTTTTTG	0.493													ENSG00000264864																																					0																																										SO:0001631	upstream_gene_variant	0				AF220127	CCDS9423.1, CCDS41888.1	13q14	2013-01-09	2011-01-25	2006-09-26	ENSG00000204977	ENSG00000204977		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9976	protein-coding gene	gene with protein product		605661	"""ret finger protein 2"", ""tripartite motif-containing 13"""	RFP2		9599022	Standard	NM_213590		Approved	Leu5, RNF77, DLEU5	uc001vdp.1	O60858	OTTHUMG00000016926		13.37:g.50570574delT	Exception_encountered		B2RB49|Q5UBW0|Q5W0U8|Q5W0U9|Q9BQ47|Q9C021	R	DEL	-	NULL	ENST00000378182.3	37	NULL	CCDS9423.1	13																																																																																				MIR3613	-	-		0.493	TRIM13-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	MIR3613	HGNC	protein_coding	OTTHUMT00000354875.1	0	0		30	30		0.00		T	NM_001007278		50570574	-1	3		31		tier1	no_errors	ENST00000579844	ensembl	human	known	74_37	rna	8.82		DEL	1.000	-	3	31
NPIPA1	9284	genome.wustl.edu	37	16	15023483	15023483	+	3'UTR	SNP	C	C	T			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr16:15023483C>T	ENST00000472413.1	+	0	2262							Q9UND3	NPIA1_HUMAN	nuclear pore complex interacting protein family, member A1						mRNA transport (GO:0051028)|protein transport (GO:0015031)	nuclear pore (GO:0005643)											ACCGTCTCCACCAAGGTGGCC	0.617													ENSG00000183426																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	AC002045	CCDS10557.1	16p13.11	2013-06-11	2013-06-11	2013-06-11	ENSG00000183426	ENSG00000183426			7909	protein-coding gene	gene with protein product		606406	"""nuclear pore complex interacting protein"""	NPIP		11586358, 18055785	Standard	NM_006985		Approved	morpheus	uc002dcy.4	Q9UND3	OTTHUMG00000090663	ENST00000472413.1:c.*2259C>T	16.37:g.15023483C>T			O15102	R	SNP	-	NULL	ENST00000472413.1	37	NULL		16																																																																																			-	NPIPA1	-	-		0.617	NPIPA1-002	KNOWN	basic|readthrough_transcript	processed_transcript	NPIPA1	HGNC	protein_coding	OTTHUMT00000207327.1	0	0		12	12		0.00		C	NM_006985		15023483	+1	5		12		tier1	no_errors	ENST00000472413	ensembl	human	known	74_37	rna	29.41		SNP	1.000	T	5	12
SENP1	29843	genome.wustl.edu	37	12	48458904	48458904	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr12:48458904G>T	ENST00000004980.5	-	12	1697	c.1219C>A	c.(1219-1221)Caa>Aaa	p.Q407K	SENP1_ENST00000549518.1_Missense_Mutation_p.Q407K|SENP1_ENST00000448372.1_Missense_Mutation_p.Q407K|SENP1_ENST00000551330.1_Missense_Mutation_p.Q407K|SENP1_ENST00000549595.1_Missense_Mutation_p.Q407K|SENP1_ENST00000339976.6_3'UTR			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	407					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				CCTTTTTTTTGTGTTTCTTGG	0.348													ENSG00000079387																																					0													126.0	118.0	120.0					12																	48458904		1833	4082	5915	SO:0001583	missense	0			-	AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"""SUMO1/sentrin specific protease 1"""			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.1219C>A	12.37:g.48458904G>T	ENSP00000004980:p.Gln407Lys		A8K7P5|Q86XC8	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.Q407K	ENST00000004980.5	37	c.1219	CCDS44868.2	12	.	.	.	.	.	.	.	.	.	.	G	4.728	0.135290	0.09032	.	.	ENSG00000079387	ENST00000004980;ENST00000448372;ENST00000551330;ENST00000549595;ENST00000549518	T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63	5.45	3.6	0.41247	.	0.852888	0.10669	N	0.647745	T	0.06050	0.0157	N	0.08118	0	0.58432	D	0.999999	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.20672	-1.0268	10	0.07644	T	0.81	0.1021	6.8356	0.23935	0.0:0.7122:0.1888:0.099	.	407;407	Q9P0U3;Q9P0U3-2	SENP1_HUMAN;.	K	407	ENSP00000004980:Q407K;ENSP00000394791:Q407K;ENSP00000446681:Q407K;ENSP00000450076:Q407K;ENSP00000447328:Q407K	ENSP00000004980:Q407K	Q	-	1	0	SENP1	46745171	0.915000	0.31059	0.934000	0.37439	0.646000	0.38490	1.480000	0.35464	0.657000	0.30906	-0.502000	0.04539	CAA	-	SENP1	-	NULL		0.348	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP1	HGNC	protein_coding	OTTHUMT00000406471.1	0	0		32	32		0.00		G	NM_014554		48458904	-1	4		45		tier1	no_errors	ENST00000004980	ensembl	human	known	74_37	missense	8.16		SNP	0.856	T	4	45
BSN	8927	genome.wustl.edu	37	3	49679989	49679989	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr3:49679989C>G	ENST00000296452.4	+	3	1036	c.922C>G	c.(922-924)Caa>Gaa	p.Q308E	BSN-AS1_ENST00000442384.1_RNA	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	308					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCAGCCCCCTCAACCCACCAA	0.697													ENSG00000164061																																					0													12.0	14.0	14.0					3																	49679989		2195	4287	6482	SO:0001583	missense	0			-	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.922C>G	3.37:g.49679989C>G	ENSP00000296452:p.Gln308Glu		O43161|Q7LGH3	Missense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.Q308E	ENST00000296452.4	37	c.922	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	C	8.574	0.880830	0.17467	.	.	ENSG00000164061	ENST00000296452	T	0.18016	2.24	4.74	3.87	0.44632	.	0.885835	0.09407	N	0.806401	T	0.12347	0.0300	L	0.34521	1.04	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.33033	-0.9884	10	0.02654	T	1	.	11.319	0.49410	0.0:0.9142:0.0:0.0858	.	308	Q9UPA5	BSN_HUMAN	E	308	ENSP00000296452:Q308E	ENSP00000296452:Q308E	Q	+	1	0	BSN	49654993	0.000000	0.05858	0.991000	0.47740	0.941000	0.58515	0.521000	0.22893	1.109000	0.41680	0.462000	0.41574	CAA	-	BSN	-	NULL		0.697	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	0	0		29	29		0.00		C	NM_003458		49679989	+1	5		23		tier1	no_errors	ENST00000296452	ensembl	human	known	74_37	missense	17.86		SNP	0.320	G	5	23
ZC3H14	79882	genome.wustl.edu	37	14	89076098	89076098	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr14:89076098G>A	ENST00000251038.5	+	15	2273	c.2048G>A	c.(2047-2049)cGt>cAt	p.R683H	ZC3H14_ENST00000359301.3_Missense_Mutation_p.R518H|ZC3H14_ENST00000393514.5_Missense_Mutation_p.R658H|ZC3H14_ENST00000557607.1_Missense_Mutation_p.R367H|ZC3H14_ENST00000555755.1_Missense_Mutation_p.R677H|ZC3H14_ENST00000336693.4_Missense_Mutation_p.R518H|ZC3H14_ENST00000406216.3_Missense_Mutation_p.R229H|ZC3H14_ENST00000302216.8_Missense_Mutation_p.R526H|ZC3H14_ENST00000556945.1_Missense_Mutation_p.R552H|ZC3H14_ENST00000555900.1_Missense_Mutation_p.R385H|ZC3H14_ENST00000318308.6_Missense_Mutation_p.R253H	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	683						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						CAGCTCTGCCGTTACTTCCCT	0.393													ENSG00000100722																																					0													120.0	111.0	114.0					14																	89076098		2203	4300	6503	SO:0001583	missense	0			-	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"""Zinc fingers, CCCH-type domain containing"""	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.2048G>A	14.37:g.89076098G>A	ENSP00000251038:p.Arg683His		A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP	smart_Znf_CCCH	p.R683H	ENST00000251038.5	37	c.2048	CCDS32133.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.6|28.6	4.936319|4.936319	0.92458|0.92458	.|.	.|.	ENSG00000100722|ENSG00000100722	ENST00000251038;ENST00000393530;ENST00000353091;ENST00000359301;ENST00000302216;ENST00000380684;ENST00000556945;ENST00000557607;ENST00000555755;ENST00000393514;ENST00000336693;ENST00000318308;ENST00000555900;ENST00000406216;ENST00000555792|ENST00000556000	D;D;D;D|.	0.86097|.	-2.07;-2.07;-2.07;-2.07|.	5.96|5.96	5.96|5.96	0.96718|0.96718	Zinc finger, CCCH-type (1);|.	0.054550|.	0.64402|.	D|.	0.000001|.	T|T	0.81103|0.81103	0.4753|0.4753	M|M	0.90309|0.90309	3.105|3.105	0.40617|0.40617	D|D	0.981721|0.981721	D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0|.	D;D;D;D;D;D;D;D|.	0.91635|.	0.995;0.996;0.998;0.999;0.991;0.982;0.992;0.999|.	D|D	0.84606|0.84606	0.0675|0.0675	10|5	0.87932|.	D|.	0|.	-14.7746|-14.7746	14.0108|14.0108	0.64495|0.64495	0.0772:0.0:0.9228:0.0|0.0772:0.0:0.9228:0.0	.|.	552;532;677;682;229;253;526;683|.	G3V256;F8W848;G3V5R4;Q6PJT7-2;Q6PJT7-8;Q6PJT7-6;Q6PJT7-3;Q6PJT7|.	.;.;.;.;.;.;.;ZC3HE_HUMAN|.	H|I	683;658;620;518;526;532;552;367;677;658;518;253;385;229;98|598	ENSP00000327176:R253H;ENSP00000451530:R385H;ENSP00000384682:R229H;ENSP00000450823:R98H|.	ENSP00000251038:R683H|.	R|V	+|+	2|1	0|0	ZC3H14|ZC3H14	88145851|88145851	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	6.834000|6.834000	0.75339|0.75339	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	CGT|GTT	-	ZC3H14	-	smart_Znf_CCCH		0.393	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	ZC3H14	HGNC	protein_coding	OTTHUMT00000410387.1	0	0		45	45		0.00		G	NM_024824		89076098	+1	11		22		tier1	no_errors	ENST00000251038	ensembl	human	known	74_37	missense	33.33		SNP	1.000	A	11	22
PTPRC	5788	genome.wustl.edu	37	1	198685831	198685831	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr1:198685831G>T	ENST00000367376.2	+	13	1477	c.1306G>T	c.(1306-1308)Gat>Tat	p.D436Y	PTPRC_ENST00000442510.2_Missense_Mutation_p.D438Y|PTPRC_ENST00000352140.3_Missense_Mutation_p.D388Y|PTPRC_ENST00000348564.6_Missense_Mutation_p.D277Y|PTPRC_ENST00000594404.1_Missense_Mutation_p.D275Y	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	436	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CCTCAATCTGGATAAAAACCT	0.303													ENSG00000081237																																					0													45.0	48.0	47.0					1																	198685831		2202	4295	6497	SO:0001583	missense	0			-	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1306G>T	1.37:g.198685831G>T	ENSP00000356346:p.Asp436Tyr		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.D438Y	ENST00000367376.2	37	c.1312		1	.	.	.	.	.	.	.	.	.	.	G	7.805	0.714405	0.15306	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	T	0.58940	0.3	4.43	-8.85	0.00799	Fibronectin, type III (4);Immunoglobulin-like fold (1);	3.349420	0.00604	N	0.000396	T	0.58821	0.2149	L	0.46157	1.445	0.09310	N	1	P;P;B;B;B	0.48764	0.896;0.915;0.283;0.277;0.098	P;P;B;B;B	0.51229	0.532;0.663;0.329;0.325;0.226	T	0.71745	-0.4500	10	0.59425	D	0.04	.	11.4131	0.49937	0.6172:0.2464:0.1364:0.0	.	372;372;277;388;436	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	Y	438;372;388;388;322;436;370;275	ENSP00000193532:D388Y	ENSP00000306782:D275Y	D	+	1	0	PTPRC	196952454	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.233000	0.00139	-3.900000	0.00093	-1.223000	0.01593	GAT	-	PTPRC	-	pirsf_Leukocyte_common_ag,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.303	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	HGNC	protein_coding		0	0		44	44		0.00		G			198685831	+1	10		39		tier1	no_errors	ENST00000442510	ensembl	human	known	74_37	missense	20.41		SNP	0.000	T	10	39
SIPA1L2	57568	genome.wustl.edu	37	1	232601100	232601100	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr1:232601100G>T	ENST00000366630.1	-	8	2664	c.2306C>A	c.(2305-2307)aCt>aAt	p.T769N	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.T769N|SIPA1L2_ENST00000308942.4_5'Flank			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	769	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTTTGGAAAAGTTACACCTTT	0.428													ENSG00000116991																																					0													76.0	77.0	76.0					1																	232601100		1903	4157	6060	SO:0001583	missense	0			-	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2306C>A	1.37:g.232601100G>T	ENSP00000355589:p.Thr769Asn		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.T769N	ENST00000366630.1	37	c.2306	CCDS41474.1	1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258680	0.59321	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.95035	-3.59;-3.59	5.91	5.91	0.95273	Rap/ran-GAP (2);	0.048822	0.85682	D	0.000000	D	0.95345	0.8489	M	0.64997	1.995	0.54753	D	0.99998	P	0.38745	0.645	P	0.46419	0.516	D	0.94313	0.7547	10	0.46703	T	0.11	-22.0728	20.2885	0.98538	0.0:0.0:1.0:0.0	.	769	Q9P2F8	SI1L2_HUMAN	N	769	ENSP00000355589:T769N;ENSP00000262861:T769N	ENSP00000262861:T769N	T	-	2	0	SIPA1L2	230667723	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.682000	0.84083	2.791000	0.96007	0.650000	0.86243	ACT	-	SIPA1L2	-	pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom		0.428	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	HGNC	protein_coding	OTTHUMT00000092318.1	0	0		40	40		0.00		G	XM_045839		232601100	-1	4		43		tier1	no_errors	ENST00000262861	ensembl	human	known	74_37	missense	8.51		SNP	1.000	T	4	43
TAT	6898	genome.wustl.edu	37	16	71606163	71606163	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr16:71606163C>T	ENST00000355962.4	-	6	765	c.632G>A	c.(631-633)tGt>tAt	p.C211Y	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	211					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	GACAATGAGACAAGCTGTCTT	0.423													ENSG00000198650																									Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)												0													152.0	140.0	144.0					16																	71606163		2198	4300	6498	SO:0001583	missense	0			-		CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.632G>A	16.37:g.71606163C>T	ENSP00000348234:p.Cys211Tyr		B2R8I1|D3DWS2	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_Tyr_aminoTrfase_ubiquitination,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase	p.C211Y	ENST00000355962.4	37	c.632	CCDS10903.1	16	.	.	.	.	.	.	.	.	.	.	C	25.9	4.688298	0.88639	.	.	ENSG00000198650	ENST00000355962	D	0.90444	-2.67	6.17	6.17	0.99709	Tyrosine aminotransferase (1);Aminotransferase, class I/classII (1);Tyrosine/nicotianamine aminotransferase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.94013	0.8082	L	0.50333	1.59	0.80722	D	1	D	0.71674	0.998	D	0.64687	0.928	D	0.93638	0.6962	10	0.87932	D	0	-14.5102	20.8794	0.99867	0.0:1.0:0.0:0.0	.	211	P17735	ATTY_HUMAN	Y	211	ENSP00000348234:C211Y	ENSP00000348234:C211Y	C	-	2	0	TAT	70163664	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	TGT	-	TAT	-	pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase		0.423	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAT	HGNC	protein_coding	OTTHUMT00000268989.1	0	0		58	58		0.00		C			71606163	-1	4		42		tier1	no_errors	ENST00000355962	ensembl	human	known	74_37	missense	8.70		SNP	1.000	T	4	42
ZNF385B	151126	genome.wustl.edu	37	2	180725629	180725629	+	Intron	SNP	G	G	A			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr2:180725629G>A	ENST00000410066.1	-	1	405				MIR1258_ENST00000408313.1_RNA	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B						intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GGTCGTGGAAGCCACAGGCGC	0.612													ENSG00000221240																									Colon(155;204 2491 32774 51842)												0													4.0	4.0	4.0					2																	180725629		1223	2971	4194	SO:0001627	intron_variant	0			-	AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"""zinc finger protein 533"""	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.198+198C>T	2.37:g.180725629G>A			Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	R	SNP	-	NULL	ENST00000410066.1	37	NULL	CCDS33339.1	2																																																																																			-	MIR1258	-	-		0.612	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR1258	HGNC	protein_coding	OTTHUMT00000335972.1	0	0		20	20		0.00		G	NM_152520		180725629	-1	11		40		tier1	no_errors	ENST00000408313	ensembl	human	known	74_37	rna	21.57		SNP	0.017	A	11	40
PIK3CB	5291	genome.wustl.edu	37	3	138461596	138461596	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr3:138461596T>A	ENST00000477593.1	-	4	498	c.425A>T	c.(424-426)gAt>gTt	p.D142V	PIK3CB_ENST00000289153.2_Missense_Mutation_p.D142V			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	142					activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|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)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	TACTTCAGGATCCTTCAAGGA	0.328													ENSG00000051382																																					0													72.0	71.0	72.0					3																	138461596		2202	4300	6502	SO:0001583	missense	0			-		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.425A>T	3.37:g.138461596T>A	ENSP00000418143:p.Asp142Val		D3DNF0|Q24JU2	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,superfamily_ARM-type_fold,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.D142V	ENST00000477593.1	37	c.425	CCDS3104.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.1|26.1	4.701509|4.701509	0.88924|0.88924	.|.	.|.	ENSG00000051382|ENSG00000051382	ENST00000477593;ENST00000289153|ENST00000462294	T;T|.	0.51071|.	0.72;0.72|.	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73659|0.73659	0.3615|0.3615	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	D|.	0.58970|.	0.984|.	P|.	0.59115|.	0.852|.	T|T	0.72646|0.72646	-0.4230|-0.4230	10|5	0.72032|.	D|.	0.01|.	-21.2554|-21.2554	16.5311|16.5311	0.84359|0.84359	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	142|.	P42338|.	PK3CB_HUMAN|.	V|F	142|10	ENSP00000418143:D142V;ENSP00000289153:D142V|.	ENSP00000289153:D142V|.	D|I	-|-	2|1	0|0	PIK3CB|PIK3CB	139944286|139944286	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.660000|6.660000	0.74417|0.74417	2.306000|2.306000	0.77630|0.77630	0.482000|0.482000	0.46254|0.46254	GAT|ATC	-	PIK3CB	-	NULL		0.328	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CB	HGNC	protein_coding	OTTHUMT00000358019.1	0	0		33	33		0.00		T			138461596	-1	11		44		tier1	no_errors	ENST00000289153	ensembl	human	known	74_37	missense	20.00		SNP	1.000	A	11	44
FAM157A	728262	genome.wustl.edu	37	3	197896660	197896660	+	lincRNA	SNP	C	C	T	rs553792010		TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr3:197896660C>T	ENST00000437428.2	+	0	903							C9JC47	F157A_HUMAN	family with sequence similarity 157, member A											NS(1)|skin(1)	2						CCTTAGGTTCCCCAACAGTTA	0.388													ENSG00000236438	N|||	1	0.000199681	0.0	0.0	5008	,	,		26360	0.0		0.001	False		,,,				2504	0.0																0													177.0	127.0	142.0					3																	197896660		692	1589	2281			0			-			3q29	2013-01-30			ENSG00000236438	ENSG00000236438			34079	other	unknown							Standard	NM_001145248		Approved		uc011bup.1	C9JC47			3.37:g.197896660C>T				R	SNP	-	NULL	ENST00000437428.2	37	NULL		3																																																																																			-	FAM157A	-	-		0.388	FAM157A-001	KNOWN	not_best_in_genome_evidence|mRNA_end_NF|basic	lincRNA	FAM157A	HGNC	lincRNA	OTTHUMT00000340078.2	0	0		261	261		0.00		C	NM_001145248		197896660	+1	39		339		tier1	no_errors	ENST00000431569	ensembl	human	known	74_37	rna	10.32		SNP	0.005	T	39	339
EXD1	161829	genome.wustl.edu	37	15	41483675	41483675	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr15:41483675G>C	ENST00000314992.5	-	8	845	c.655C>G	c.(655-657)Ctc>Gtc	p.L219V	EXD1_ENST00000458580.2_Missense_Mutation_p.L277V|RN7SL497P_ENST00000476341.2_RNA	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	219							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						AGAAAGGAGAGATATTTAGGG	0.373													ENSG00000178997																																					0													83.0	88.0	86.0					15																	41483675		2203	4300	6503	SO:0001583	missense	0			-	BC030628	CCDS10072.1, CCDS66738.1	15q15.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000178997	ENSG00000178997			28507	protein-coding gene	gene with protein product			"""exonuclease 3'-5' domain-like 1"""	EXDL1		12477932	Standard	NM_001286441		Approved	MGC33637	uc001znk.3	Q8NHP7	OTTHUMG00000130232	ENST00000314992.5:c.655C>G	15.37:g.41483675G>C	ENSP00000321029:p.Leu219Val		A8K909|B7Z839|Q6ZW94	Missense_Mutation	SNP	pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	p.L219V	ENST00000314992.5	37	c.655	CCDS10072.1	15	.	.	.	.	.	.	.	.	.	.	G	5.009	0.187417	0.09547	.	.	ENSG00000178997	ENST00000314992;ENST00000458580	T;T	0.47528	0.84;0.85	5.55	3.67	0.42095	-5&apos (1);Ribonuclease H-like (1); exonuclease (1);3&apos (1);	0.294551	0.27366	N	0.019687	T	0.21801	0.0525	N	0.02916	-0.46	0.09310	N	0.999998	B;B	0.15719	0.014;0.011	B;B	0.24269	0.052;0.022	T	0.12553	-1.0543	10	0.34782	T	0.22	-1.089	6.8111	0.23805	0.0:0.358:0.4174:0.2246	.	277;219	B7Z839;Q8NHP7	.;EXD1_HUMAN	V	219;277	ENSP00000321029:L219V;ENSP00000415056:L277V	ENSP00000321029:L219V	L	-	1	0	EXD1	39270967	0.956000	0.32656	0.994000	0.49952	0.694000	0.40290	1.530000	0.36007	1.331000	0.45412	0.491000	0.48974	CTC	-	EXD1	-	superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom		0.373	EXD1-001	KNOWN	basic|CCDS	protein_coding	EXD1	HGNC	protein_coding	OTTHUMT00000252553.2	0	0		197	197		0.00		G	NM_152596		41483675	-1	52		140		tier1	no_errors	ENST00000314992	ensembl	human	known	74_37	missense	27.08		SNP	0.267	C	52	140
FSIP2	401024	genome.wustl.edu	37	2	186655562	186655562	+	Missense_Mutation	SNP	A	A	C			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr2:186655562A>C	ENST00000424728.1	+	16	3699	c.3699A>C	c.(3697-3699)ttA>ttC	p.L1233F	AC008174.3_ENST00000436557.1_RNA|FSIP2_ENST00000343098.5_Missense_Mutation_p.L1322F|AC008174.3_ENST00000429929.1_RNA			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	1233										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TGAAATATTTATCTTTATTTG	0.318													ENSG00000188738																																					0																																										SO:0001583	missense	0			-	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.3699A>C	2.37:g.186655562A>C	ENSP00000401306:p.Leu1233Phe		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	NULL	p.L1322F	ENST00000424728.1	37	c.3966		2	.	.	.	.	.	.	.	.	.	.	A	11.60	1.686229	0.29962	.	.	ENSG00000188738	ENST00000343098;ENST00000424728;ENST00000326147	T;T	0.61158	0.13;0.14	4.53	0.877	0.19145	.	0.000000	0.40640	N	0.001054	T	0.54240	0.1846	L	0.55990	1.75	0.26152	N	0.980124	.	.	.	.	.	.	T	0.51442	-0.8705	8	0.87932	D	0	.	6.4487	0.21892	0.7086:0.0:0.2914:0.0	.	.	.	.	F	1322;1233;1233	ENSP00000344403:L1322F;ENSP00000401306:L1233F	ENSP00000321903:L1233F	L	+	3	2	FSIP2	186363807	0.998000	0.40836	0.999000	0.59377	0.684000	0.39900	0.553000	0.23391	0.149000	0.19098	0.533000	0.62120	TTA	-	FSIP2	-	NULL		0.318	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	0	0		29	29		0.00		A	NM_173651		186655562	+1	6		44		tier1	no_errors	ENST00000343098	ensembl	human	known	74_37	missense	12.00		SNP	0.998	C	6	44
DNAH1	25981	genome.wustl.edu	37	3	52412622	52412622	+	Silent	SNP	G	G	C			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr3:52412622G>C	ENST00000420323.2	+	47	7464	c.7203G>C	c.(7201-7203)ggG>ggC	p.G2401G		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2401	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCCCAGCTGGGGCCCCCCACA	0.632													ENSG00000114841																																					0													83.0	93.0	89.0					3																	52412622		1962	4155	6117	SO:0001819	synonymous_variant	0			-	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.7203G>C	3.37:g.52412622G>C			B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase	p.G2401	ENST00000420323.2	37	c.7203	CCDS46842.1	3																																																																																			-	DH1	-	superfamily_P-loop_NTPase		0.632	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DH1	HGNC	protein_coding	OTTHUMT00000350816.1	0	0		78	78		0.00		G	NM_015512		52412622	+1	25		113		tier1	no_errors	ENST00000420323	ensembl	human	known	74_37	silent	18.12		SNP	0.784	C	25	113
CRACR2A	84766	genome.wustl.edu	37	12	3747504	3747504	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr12:3747504G>T	ENST00000440314.2	-	14	1861	c.1388C>A	c.(1387-1389)cCg>cAg	p.P463Q		NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN		0					activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			CCGGGGGTACGGACCCCCAGG	0.617													ENSG00000130038																																					0													20.0	24.0	23.0					12																	3747504		692	1591	2283	SO:0001583	missense	0			-																												ENST00000440314.2:c.1388C>A	12.37:g.3747504G>T	ENSP00000409382:p.Pro463Gln		B4E1X0|B9EK63	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_EF_hand_dom,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_hand_dom,tigrfam_Small_GTP-bd_dom	p.P463Q	ENST00000440314.2	37	c.1388	CCDS44803.1	12	.	.	.	.	.	.	.	.	.	.	G	13.89	2.372877	0.42105	.	.	ENSG00000130038	ENST00000440314	T	0.63913	-0.07	4.63	-5.2	0.02823	.	.	.	.	.	T	0.40767	0.1130	.	.	.	0.09310	N	0.999999	B	0.12630	0.006	B	0.09377	0.004	T	0.30268	-0.9984	8	0.72032	D	0.01	.	0.6974	0.00901	0.3494:0.1064:0.22:0.3242	.	463	Q9BSW2-2	.	Q	463	ENSP00000409382:P463Q	ENSP00000409382:P463Q	P	-	2	0	EFCAB4B	3617765	0.053000	0.20554	0.000000	0.03702	0.000000	0.00434	1.087000	0.30865	-1.304000	0.02329	-0.484000	0.04775	CCG	-	EFCAB4B	-	NULL		0.617	EFCAB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB4B	HGNC	protein_coding	OTTHUMT00000398640.2	0	0		97	97		0.00		G			3747504	-1	27		86		tier1	no_errors	ENST00000440314	ensembl	human	known	74_37	missense	23.89		SNP	0.000	T	27	86
OR13F1	138805	genome.wustl.edu	37	9	107266907	107266907	+	Missense_Mutation	SNP	C	C	T	rs201311592		TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr9:107266907C>T	ENST00000334726.2	+	1	453	c.364C>T	c.(364-366)Cgg>Tgg	p.R122W		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R122W(1)		endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGCATATGACCGGTATGTGGC	0.537													ENSG00000186881																																					1	Substitution - Missense(1)	large_intestine(1)											88.0	75.0	79.0					9																	107266907		2203	4300	6503	SO:0001583	missense	0			-		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"""GPCR / Class A : Olfactory receptors"""	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.364C>T	9.37:g.107266907C>T	ENSP00000334452:p.Arg122Trp		Q6IF50	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R122W	ENST00000334726.2	37	c.364	CCDS35087.1	9	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229519	0.58777	.	.	ENSG00000186881	ENST00000334726	T	0.77620	-1.11	4.3	-0.056	0.13807	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000219	D	0.88588	0.6477	H	0.97587	4.035	0.39159	D	0.962364	D	0.89917	1.0	D	0.65010	0.931	D	0.84909	0.0847	10	0.87932	D	0	.	4.4927	0.11820	0.1912:0.5389:0.0:0.2699	.	122	Q8NGS4	O13F1_HUMAN	W	122	ENSP00000334452:R122W	ENSP00000334452:R122W	R	+	1	2	OR13F1	106306728	0.978000	0.34361	0.996000	0.52242	0.996000	0.88848	0.830000	0.27462	-0.009000	0.14296	0.655000	0.94253	CGG	rs201311592	OR13F1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.537	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13F1	HGNC	protein_coding	OTTHUMT00000053475.1	0	0		24	24		0.00		C			107266907	+1	6		31		tier1	no_errors	ENST00000334726	ensembl	human	known	74_37	missense	16.22		SNP	0.999	T	6	31
NDUFA7	4701	genome.wustl.edu	37	19	8386227	8386227	+	Missense_Mutation	SNP	G	G	A	rs553849517		TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr19:8386227G>A	ENST00000301457.2	-	1	53	c.16C>T	c.(16-18)Cgt>Tgt	p.R6C	NDUFA7_ENST00000598884.1_Missense_Mutation_p.R6C|RPS28_ENST00000600659.2_5'Flank	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	6					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5						TGGATGAGACGGGTGGCGGAC	0.716													ENSG00000267855	G|||	1	0.000199681	0.0	0.0	5008	,	,		11554	0.0		0.001	False		,,,				2504	0.0																0													6.0	10.0	9.0					19																	8386227		1893	4051	5944	SO:0001583	missense	0			-	AF050637	CCDS42492.1	19p13.2	2013-05-14	2002-08-29		ENSG00000267855	ENSG00000267855		"""Mitochondrial respiratory chain complex / Complex I"""	7691	protein-coding gene	gene with protein product	"""complex I B14.5a subunit"""	602139	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7 (14.5kD, B14.5a)"""			9763676	Standard	NM_005001		Approved	B14.5a	uc002mjm.2	O95182	OTTHUMG00000182459	ENST00000301457.2:c.16C>T	19.37:g.8386227G>A	ENSP00000301457:p.Arg6Cys			Missense_Mutation	SNP	pfam_DH-UbQ_OxRdtase_B14.5a_su	p.R6C	ENST00000301457.2	37	c.16	CCDS42492.1	19	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785850	0.70337	.	.	ENSG00000167774	ENST00000301457	T	0.47528	0.84	5.54	0.293	0.15742	.	0.140274	0.48286	D	0.000194	T	0.50582	0.1624	L	0.40543	1.245	0.09310	N	0.999998	D	0.76494	0.999	P	0.60609	0.877	T	0.44483	-0.9325	10	0.66056	D	0.02	-11.93	10.0863	0.42421	0.0:0.1155:0.4214:0.4631	.	6	O95182	NDUA7_HUMAN	C	6	ENSP00000301457:R6C	ENSP00000301457:R6C	R	-	1	0	NDUFA7	8292227	0.059000	0.20769	0.001000	0.08648	0.640000	0.38277	0.676000	0.25247	0.334000	0.23590	0.655000	0.94253	CGT	-	NDUFA7	-	pfam_DH-UbQ_OxRdtase_B14.5a_su		0.716	NDUFA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFA7	HGNC	protein_coding	OTTHUMT00000461373.1	0	0		19	19		0.00		G	NM_005001		8386227	-1	10		25		tier1	no_errors	ENST00000301457	ensembl	human	known	74_37	missense	28.57		SNP	0.008	A	10	25
CIR1	9541	genome.wustl.edu	37	2	175243727	175243727	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr2:175243727A>T	ENST00000342016.3	-	7	500	c.408T>A	c.(406-408)caT>caA	p.H136Q	CIR1_ENST00000362053.5_Missense_Mutation_p.H136Q	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	136					mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						CTGTGTTGACATGACCCCATT	0.383													ENSG00000138433																																					0													169.0	138.0	149.0					2																	175243727		2203	4300	6503	SO:0001583	missense	0			-	AF098297	CCDS2256.1	2q31.1	2009-07-14			ENSG00000138433	ENSG00000138433			24217	protein-coding gene	gene with protein product	"""recepin"", ""CBF1 interacting corepressor"""	605228				15652350, 11222720, 9874765	Standard	NM_004882		Approved	CIR	uc002uim.3	Q86X95	OTTHUMG00000132338	ENST00000342016.3:c.408T>A	2.37:g.175243727A>T	ENSP00000339723:p.His136Gln		A6NFI6|A8K8M4|O95367|Q12804|Q4G1B9|Q6PJI4|Q8IWI2	Missense_Mutation	SNP	pfam_CIR_N_dom,superfamily_Znf_CCHC	p.H136Q	ENST00000342016.3	37	c.408	CCDS2256.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.3|20.3	3.965256|3.965256	0.74131|0.74131	.|.	.|.	ENSG00000138433|ENSG00000138433	ENST00000377973|ENST00000342016	.|D	.|0.97811	.|-4.55	5.33|5.33	2.98|2.98	0.34508|0.34508	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98365|0.98365	0.9457|0.9457	M|M	0.85462|0.85462	2.755|2.755	0.43777|0.43777	D|D	0.996304|0.996304	.|D	.|0.76494	.|0.999	.|D	.|0.83275	.|0.996	D|D	0.98059|0.98059	1.0392|1.0392	5|10	.|0.59425	.|D	.|0.04	.|.	8.3905|8.3905	0.32526|0.32526	0.7716:0.0:0.2284:0.0|0.7716:0.0:0.2284:0.0	.|.	.|136	.|Q86X95	.|CIR1_HUMAN	S|Q	41|136	.|ENSP00000339723:H136Q	.|ENSP00000339723:H136Q	C|H	-|-	1|3	0|2	CIR1|CIR1	174951973|174951973	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.134000|1.134000	0.31442|0.31442	0.976000|0.976000	0.38417|0.38417	0.528000|0.528000	0.53228|0.53228	TGT|CAT	-	CIR1	-	superfamily_Znf_CCHC		0.383	CIR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIR1	HGNC	protein_coding	OTTHUMT00000255460.1	0	0		56	56		0.00		A	NM_004882		175243727	-1	17		82		tier1	no_errors	ENST00000342016	ensembl	human	known	74_37	missense	17.17		SNP	1.000	T	17	82
EPHA5	2044	genome.wustl.edu	37	4	66509122	66509122	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr4:66509122C>G	ENST00000273854.3	-	2	805	c.205G>C	c.(205-207)Gtc>Ctc	p.V69L	EPHA5_ENST00000432638.2_Missense_Mutation_p.V69L|EPHA5_ENST00000354839.4_Missense_Mutation_p.V69L|EPHA5_ENST00000511294.1_Missense_Mutation_p.V69L	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	69	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TCCCCCATGACAGTGCGTGAA	0.313										TSP Lung(17;0.13)			ENSG00000145242																																					0													54.0	55.0	54.0					4																	66509122		2203	4299	6502	SO:0001583	missense	0			-	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.205G>C	4.37:g.66509122C>G	ENSP00000273854:p.Val69Leu		Q7Z3F2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V69L	ENST00000273854.3	37	c.205	CCDS3513.1	4	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376855	0.82682	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.03635	3.86;3.86;3.86;3.86	5.51	5.51	0.81932	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.49916	D	0.000137	T	0.09113	0.0225	M	0.61703	1.905	0.51012	D	0.999901	B;B;B;P	0.45957	0.237;0.425;0.313;0.869	B;B;B;P	0.44359	0.22;0.3;0.14;0.447	T	0.03957	-1.0989	10	0.44086	T	0.13	.	19.7788	0.96409	0.0:1.0:0.0:0.0	.	69;69;69;69	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	L	69	ENSP00000273854:V69L;ENSP00000389208:V69L;ENSP00000346899:V69L;ENSP00000427638:V69L	ENSP00000273854:V69L	V	-	1	0	EPHA5	66191717	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.151000	0.71806	2.749000	0.94314	0.460000	0.39030	GTC	-	EPHA5	-	pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom,pirsf_Tyr_kinase_ephrin_rcpt		0.313	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2	0	0		101	101		0.00		C	NM_004439		66509122	-1	21		111		tier1	no_errors	ENST00000273854	ensembl	human	known	74_37	missense	15.91		SNP	1.000	G	21	111
ARFGEF1	10565	genome.wustl.edu	37	8	68170325	68170325	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr8:68170325G>T	ENST00000262215.3	-	16	2825	c.2436C>A	c.(2434-2436)aaC>aaA	p.N812K	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.N266K	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	812	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTTACCCTTGGTTGCATTCTA	0.408													ENSG00000066777																																					0													95.0	93.0	93.0					8																	68170325		2203	4300	6503	SO:0001583	missense	0			-	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.2436C>A	8.37:g.68170325G>T	ENSP00000262215:p.Asn812Lys		Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom	p.N812K	ENST00000262215.3	37	c.2436	CCDS6199.1	8	.	.	.	.	.	.	.	.	.	.	G	18.32	3.597544	0.66332	.	.	ENSG00000066777	ENST00000520381;ENST00000262215	D;D	0.81996	-1.56;-1.56	4.87	4.0	0.46444	SEC7-like, alpha orthogonal bundle (1);Armadillo-type fold (1);SEC7-like (4);	0.000000	0.85682	D	0.000000	D	0.92557	0.7636	H	0.94620	3.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92935	0.6367	10	0.87932	D	0	.	10.2282	0.43238	0.1597:0.0:0.8403:0.0	.	812;266	Q9Y6D6;E5RIF2	BIG1_HUMAN;.	K	266;812	ENSP00000428429:N266K;ENSP00000262215:N812K	ENSP00000262215:N812K	N	-	3	2	ARFGEF1	68332879	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.391000	0.44424	1.036000	0.39998	0.563000	0.77884	AAC	-	ARFGEF1	-	pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom		0.408	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF1	HGNC	protein_coding	OTTHUMT00000379441.4	0	0		37	37		0.00		G	NM_006421		68170325	-1	5		39		tier1	no_errors	ENST00000262215	ensembl	human	known	74_37	missense	11.36		SNP	1.000	T	5	39
PI3	5266	genome.wustl.edu	37	20	43804753	43804753	+	Missense_Mutation	SNP	A	A	C			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr20:43804753A>C	ENST00000243924.3	+	2	378	c.331A>C	c.(331-333)Atg>Ctg	p.M111L		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	111	WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}.				copulation (GO:0007620)|negative regulation of endopeptidase activity (GO:0010951)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				CTCTTGCGGGATGGCCTGTTT	0.542													ENSG00000124102																																					0													96.0	87.0	90.0					20																	43804753		2203	4300	6503	SO:0001583	missense	0			-	D13156	CCDS13344.1	20q13.12	2013-01-21	2008-10-03		ENSG00000124102	ENSG00000124102		"""WAP four-disulfide core domain containing"""	8947	protein-coding gene	gene with protein product	"""skin-derived antileukoproteinase"", ""trappin-2"""	182257	"""protease inhibitor 3, skin-derived (SKALP)"""			8287685, 12206714	Standard	NM_002638		Approved	ESI, SKALP, ELAFIN, WAP3, WFDC14, cementoin	uc002xng.3	P19957	OTTHUMG00000032567	ENST00000243924.3:c.331A>C	20.37:g.43804753A>C	ENSP00000243924:p.Met111Leu		E1P618|Q6FG74	Missense_Mutation	SNP	pfam_Trappin_transglut-bd_rpt,pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,prints_WAP-type_4-diS_core	p.M111L	ENST00000243924.3	37	c.331	CCDS13344.1	20	.	.	.	.	.	.	.	.	.	.	A	9.739	1.164313	0.21538	.	.	ENSG00000124102	ENST00000243924	T	0.70749	-0.51	4.49	-1.04	0.10068	Whey acidic protein, 4-disulphide core (5);4-disulphide core (1);	2.549720	0.01903	N	0.039326	T	0.48892	0.1525	N	0.05592	-0.015	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.28996	-1.0026	10	0.29301	T	0.29	.	5.0718	0.14611	0.3561:0.3473:0.0:0.2966	.	111	P19957	ELAF_HUMAN	L	111	ENSP00000243924:M111L	ENSP00000243924:M111L	M	+	1	0	PI3	43238167	0.024000	0.19004	0.000000	0.03702	0.011000	0.07611	0.127000	0.15790	-0.326000	0.08564	-0.321000	0.08615	ATG	-	PI3	-	pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,prints_WAP-type_4-diS_core		0.542	PI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PI3	HGNC	protein_coding	OTTHUMT00000079418.3	0	0		29	29		0.00		A	NM_002638		43804753	+1	17		73		tier1	no_errors	ENST00000243924	ensembl	human	known	74_37	missense	18.89		SNP	0.001	C	17	73
PHF20L1	51105	genome.wustl.edu	37	8	133851693	133851693	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr8:133851693C>A	ENST00000395386.2	+	18	2552	c.2253C>A	c.(2251-2253)tgC>tgA	p.C751*	AF230666.2_ENST00000608375.1_RNA|PHF20L1_ENST00000220847.7_Nonsense_Mutation_p.C138*|PHF20L1_ENST00000395390.2_Nonsense_Mutation_p.C726*|AF230666.2_ENST00000429151.1_RNA	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	751							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GGAGAATGTGCGGGTTATCAT	0.388													ENSG00000129292																																					0													144.0	140.0	142.0					8																	133851693		1885	4110	5995	SO:0001587	stop_gained	0			-	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.2253C>A	8.37:g.133851693C>A	ENSP00000378784:p.Cys751*		A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD	p.C138*	ENST00000395386.2	37	c.414	CCDS6367.2	8	.	.	.	.	.	.	.	.	.	.	C	34	5.338423	0.95783	.	.	ENSG00000129292	ENST00000395386;ENST00000220847;ENST00000395390	.	.	.	5.41	-7.56	0.01322	.	0.311107	0.26453	U	0.024285	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-13.7213	17.2278	0.86975	0.0:0.2403:0.0:0.7597	.	.	.	.	X	751;138;726	.	ENSP00000220847:C138X	C	+	3	2	PHF20L1	133920875	0.931000	0.31567	0.523000	0.27875	0.958000	0.62258	0.004000	0.13106	-1.557000	0.01692	-0.768000	0.03414	TGC	-	PHF20L1	-	NULL		0.388	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	PHF20L1	HGNC	protein_coding	OTTHUMT00000308949.3	0	0		66	66		0.00		C	NM_016018		133851693	+1	13		53		tier1	no_errors	ENST00000220847	ensembl	human	known	74_37	nonsense	19.70		SNP	0.618	A	13	53
HOPX	84525	genome.wustl.edu	37	4	57516895	57516895	+	Intron	SNP	C	C	T	rs141906115		TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr4:57516895C>T	ENST00000337881.7	-	3	801				HOPX_ENST00000381260.3_Silent_p.P76P|HOPX_ENST00000508121.1_Intron|HOPX_ENST00000555760.2_Intron|HOPX_ENST00000503639.3_Intron|HOPX_ENST00000553379.2_Intron|HOPX_ENST00000381255.3_Intron|HOPX_ENST00000317745.7_Intron|HOPX_ENST00000556614.2_Intron|HOPX_ENST00000554144.1_Silent_p.P94P|HOPX_ENST00000420433.1_Intron|HOPX_ENST00000556376.2_Intron	NM_139212.3	NP_631958.1	Q9BPY8	HOP_HUMAN	HOP homeobox						heart development (GO:0007507)|histone deacetylation (GO:0016575)|lung alveolus development (GO:0048286)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of heart contraction (GO:0008016)|regulation of protein binding (GO:0043393)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(2)|lung(5)|skin(1)	8	Glioma(25;0.08)|all_neural(26;0.101)					AAGCCAAGCACGGCAGACTAT	0.458													ENSG00000171476	C|||	1	0.000199681	0.0	0.0	5008	,	,		19327	0.0		0.001	False		,,,				2504	0.0																0													76.0	69.0	71.0					4																	57516895		692	1591	2283	SO:0001627	intron_variant	0			GMAF=0.0005		CCDS3507.1, CCDS47062.1, CCDS54767.1	4q12	2011-06-20			ENSG00000171476	ENSG00000171476		"""Homeoboxes / PRD class"""	24961	protein-coding gene	gene with protein product	"""homeobox only domain"""	607275				12297045	Standard	NM_032495		Approved	LAGY, HOP, OB1, NECC1, SMAP31	uc003hbz.2	Q9BPY8	OTTHUMG00000128768	ENST00000337881.7:c.145-1932G>A	4.37:g.57516895C>T			A8K0Z2|E9PB55|G3V294|Q8N0V6|Q96CI1	Silent	SNP	superfamily_Homeodomain-like	p.P94	ENST00000337881.7	37	c.282	CCDS3507.1	4																																																																																			rs141906115	HOPX	-	NULL		0.458	HOPX-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HOPX	HGNC	protein_coding	OTTHUMT00000250689.4	0	0		43	43		0.00		C			57516895	-1	6		63		tier1	no_errors	ENST00000554144	ensembl	human	known	74_37	silent	8.70		SNP	0.000	T	6	63
FGA	2243	genome.wustl.edu	37	4	155507582	155507582	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr4:155507582G>C	ENST00000302053.3	-	5	1077	c.999C>G	c.(997-999)agC>agG	p.S333R	FGA_ENST00000403106.3_Missense_Mutation_p.S333R	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	333					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CAGAGTTCCAGCTTCCAGTAC	0.567													ENSG00000171560																									NSCLC(143;340 1922 20892 22370 48145)												0													90.0	98.0	95.0					4																	155507582		2203	4300	6503	SO:0001583	missense	0			-		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.999C>G	4.37:g.155507582G>C	ENSP00000306361:p.Ser333Arg		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.S333R	ENST00000302053.3	37	c.999	CCDS3787.1	4	.	.	.	.	.	.	.	.	.	.	G	9.130	1.011158	0.19277	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	D;D	0.82711	-1.64;-1.64	4.95	-7.88	0.01178	.	60.353500	0.00166	N	0.000001	T	0.70780	0.3263	N	0.19112	0.55	0.09310	N	1	B;B	0.14012	0.009;0.001	B;B	0.18561	0.022;0.0	T	0.60372	-0.7276	10	0.51188	T	0.08	.	10.7526	0.46217	0.3257:0.1118:0.5625:0.0	.	333;333	P02671-2;P02671	.;FIBA_HUMAN	R	333	ENSP00000306361:S333R;ENSP00000385981:S333R	ENSP00000306361:S333R	S	-	3	2	FGA	155727032	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.064000	0.03461	-1.597000	0.01609	-0.894000	0.02916	AGC	-	FGA	-	NULL		0.567	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FGA	HGNC	protein_coding	OTTHUMT00000317593.1	0	0		43	43		0.00		G	NM_000508		155507582	-1	17		76		tier1	no_errors	ENST00000302053	ensembl	human	known	74_37	missense	18.28		SNP	0.000	C	17	76
CKAP2L	150468	genome.wustl.edu	37	2	113513727	113513727	+	Silent	SNP	G	G	A			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr2:113513727G>A	ENST00000302450.6	-	4	1299	c.1221C>T	c.(1219-1221)aaC>aaT	p.N407N	CKAP2L_ENST00000541405.1_Silent_p.N242N|CKAP2L_ENST00000481732.1_5'Flank	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	407						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						AGCCATTATTGTTATGTTTAT	0.423													ENSG00000169607																																					0													221.0	216.0	218.0					2																	113513727		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.1221C>T	2.37:g.113513727G>A			A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Silent	SNP	NULL	p.N407	ENST00000302450.6	37	c.1221	CCDS2100.1	2																																																																																			-	CKAP2L	-	NULL		0.423	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP2L	HGNC	protein_coding	OTTHUMT00000254082.2	0	0		36	36		0.00		G	NM_152515		113513727	-1	13		45		tier1	no_errors	ENST00000302450	ensembl	human	known	74_37	silent	22.41		SNP	0.000	A	13	45
NLRP12	91662	genome.wustl.edu	37	19	54314363	54314363	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr19:54314363C>T	ENST00000324134.6	-	3	718	c.550G>A	c.(550-552)Gcg>Acg	p.A184T	NLRP12_ENST00000345770.5_Missense_Mutation_p.A184T|NLRP12_ENST00000351894.4_Missense_Mutation_p.A184T|NLRP12_ENST00000391773.1_Missense_Mutation_p.A184T|NLRP12_ENST00000391775.3_Missense_Mutation_p.A184T|NLRP12_ENST00000535162.1_Missense_Mutation_p.A184T|NLRP12_ENST00000391772.1_Missense_Mutation_p.A184T|NLRP12_ENST00000354278.3_Missense_Mutation_p.A184T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	184					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.A184T(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		ACGGTCCTCGCGTGTCCCCGG	0.642													ENSG00000142405																																					1	Substitution - Missense(1)	breast(1)											85.0	70.0	75.0					19																	54314363		2203	4300	6503	SO:0001583	missense	0			-	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.550G>A	19.37:g.54314363C>T	ENSP00000319377:p.Ala184Thr		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_DAPIN	p.A184T	ENST00000324134.6	37	c.550	CCDS12864.1	19	.	.	.	.	.	.	.	.	.	.	C	5.330	0.246174	0.10130	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44	4.04	-2.75	0.05914	.	0.569423	0.14536	N	0.313599	T	0.73385	0.3580	L	0.31294	0.92	0.09310	N	1	B;B;B;B	0.31968	0.349;0.036;0.008;0.036	B;B;B;B	0.20955	0.032;0.007;0.002;0.007	T	0.61397	-0.7071	10	0.36615	T	0.2	.	1.4061	0.02281	0.2935:0.3937:0.1351:0.1778	.	184;184;184;184	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	T	184	ENSP00000319377:A184T;ENSP00000438030:A184T;ENSP00000340473:A184T;ENSP00000346231:A184T;ENSP00000375655:A184T;ENSP00000375653:A184T;ENSP00000375652:A184T	ENSP00000319377:A184T	A	-	1	0	NLRP12	59006175	0.000000	0.05858	0.000000	0.03702	0.294000	0.27393	-0.692000	0.05127	-0.630000	0.05567	0.297000	0.19635	GCG	-	NLRP12	-	NULL		0.642	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NLRP12	HGNC	protein_coding	OTTHUMT00000134340.1	0	0		19	19		0.00		C	NM_144687		54314363	-1	7		36		tier1	no_errors	ENST00000324134	ensembl	human	known	74_37	missense	16.28		SNP	0.000	T	7	36
OR5H6	79295	genome.wustl.edu	37	3	97983472	97983472	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr3:97983472T>A	ENST00000383696.2	+	1	385	c.344T>A	c.(343-345)gTa>gAa	p.V115E	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GAATGCATGGTACAATTTTTT	0.388													ENSG00000230301																																					0													110.0	100.0	103.0					3																	97983472		2203	4300	6503	SO:0001583	missense	0			-	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.344T>A	3.37:g.97983472T>A	ENSP00000373196:p.Val115Glu		Q6IF88	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V115E	ENST00000383696.2	37	c.344	CCDS33800.1	3	.	.	.	.	.	.	.	.	.	.	-	9.387	1.074428	0.20227	.	.	ENSG00000230301	ENST00000383696	T	0.03152	4.03	2.19	-1.75	0.08031	GPCR, rhodopsin-like superfamily (1);	0.545744	0.16469	N	0.213054	T	0.06645	0.0170	M	0.79258	2.445	0.09310	N	1	B	0.30584	0.286	B	0.37015	0.239	T	0.21280	-1.0250	10	0.72032	D	0.01	.	6.6505	0.22959	0.0:0.493:0.0:0.507	.	115	Q8NGV6	OR5H6_HUMAN	E	115	ENSP00000373196:V115E	ENSP00000373196:V115E	V	+	2	0	OR5H6	99466162	0.000000	0.05858	0.018000	0.16275	0.005000	0.04900	-0.775000	0.04679	-0.243000	0.09653	0.163000	0.16589	GTA	-	OR5H6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.388	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H6	HGNC	protein_coding	OTTHUMT00000359111.2	0	0		52	52		0.00		T			97983472	+1	18		67		tier1	no_errors	ENST00000383696	ensembl	human	known	74_37	missense	21.18		SNP	0.010	A	18	67
ZNF831	128611	genome.wustl.edu	37	20	57768815	57768815	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr20:57768815C>A	ENST00000371030.2	+	1	2741	c.2741C>A	c.(2740-2742)gCa>gAa	p.A914E		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	914							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCAGCCCCCGCAGAGCACCCC	0.632													ENSG00000124203																																					0													30.0	32.0	31.0					20																	57768815		1931	4132	6063	SO:0001583	missense	0			-	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2741C>A	20.37:g.57768815C>A	ENSP00000360069:p.Ala914Glu		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A914E	ENST00000371030.2	37	c.2741	CCDS42894.1	20	.	.	.	.	.	.	.	.	.	.	C	10.65	1.409912	0.25465	.	.	ENSG00000124203	ENST00000371030	T	0.04862	3.54	4.53	1.47	0.22746	.	0.780999	0.11218	N	0.586995	T	0.03178	0.0093	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42932	-0.9422	10	0.62326	D	0.03	-3.9229	3.4056	0.07340	0.0957:0.171:0.5582:0.1751	.	914	Q5JPB2	ZN831_HUMAN	E	914	ENSP00000360069:A914E	ENSP00000360069:A914E	A	+	2	0	ZNF831	57202210	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.213000	0.17521	0.116000	0.18110	-0.128000	0.14901	GCA	-	ZNF831	-	NULL		0.632	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2	0	0		86	86		0.00		C	NM_178457		57768815	+1	20		222		tier1	no_errors	ENST00000371030	ensembl	human	novel	74_37	missense	8.23		SNP	0.002	A	20	222
FMNL2	114793	genome.wustl.edu	37	2	153494158	153494158	+	Silent	SNP	T	T	C			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr2:153494158T>C	ENST00000475377.2	+	10	1241	c.1041T>C	c.(1039-1041)ccT>ccC	p.P347P	FMNL2_ENST00000288670.9_Silent_p.P972P			Q96PY5	FMNL2_HUMAN	formin-like 2	972	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						TCTTCTTTCCTGTCTTTGTCC	0.423													ENSG00000157827																																					0													151.0	146.0	147.0					2																	153494158		1899	4119	6018	SO:0001819	synonymous_variant	0			-	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000475377.2:c.1041T>C	2.37:g.153494158T>C			B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Silent	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour	p.P972	ENST00000475377.2	37	c.2916		2																																																																																			-	FMNL2	-	pfam_FH2_Formin,smart_FH2_Formin		0.423	FMNL2-002	NOVEL	basic|exp_conf	protein_coding	FMNL2	HGNC	protein_coding	OTTHUMT00000333583.3	0	0		54	54		0.00		T	NM_052905		153494158	+1	9		82		tier1	no_errors	ENST00000288670	ensembl	human	known	74_37	silent	9.89		SNP	0.016	C	9	82
TTC21B	79809	genome.wustl.edu	37	2	166805913	166805913	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr2:166805913G>A	ENST00000243344.7	-	3	390	c.253C>T	c.(253-255)Cct>Tct	p.P85S	AC010127.5_ENST00000443032.1_RNA|AC010127.5_ENST00000440322.1_RNA	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	85					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CCTGGATTAGGACTCATTTTA	0.313													ENSG00000123607																																					0													108.0	120.0	116.0					2																	166805913		2202	4297	6499	SO:0001583	missense	0			-	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.253C>T	2.37:g.166805913G>A	ENSP00000243344:p.Pro85Ser		A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.P85S	ENST00000243344.7	37	c.253	CCDS33315.1	2	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154097	0.38021	.	.	ENSG00000123607	ENST00000243344	T	0.53857	0.6	5.4	2.21	0.28008	.	0.609533	0.18067	N	0.152756	T	0.29556	0.0737	N	0.17082	0.46	0.80722	D	1	B;B	0.15141	0.012;0.002	B;B	0.14023	0.01;0.002	T	0.06144	-1.0843	10	0.15066	T	0.55	-2.626	6.4645	0.21973	0.2336:0.1415:0.6249:0.0	.	85;85	Q7Z4L5-2;Q7Z4L5	.;TT21B_HUMAN	S	85	ENSP00000243344:P85S	ENSP00000243344:P85S	P	-	1	0	TTC21B	166514159	0.999000	0.42202	0.991000	0.47740	0.924000	0.55760	1.037000	0.30241	1.276000	0.44395	0.591000	0.81541	CCT	-	TTC21B	-	NULL		0.313	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC21B	HGNC	protein_coding	OTTHUMT00000333770.1	0	0		49	49		0.00		G	NM_024753		166805913	-1	15		44		tier1	no_errors	ENST00000243344	ensembl	human	known	74_37	missense	25.42		SNP	0.946	A	15	44
CACNG5	27091	genome.wustl.edu	37	17	64881179	64881179	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr17:64881179A>T	ENST00000533854.1	+	6	887	c.650A>T	c.(649-651)tAc>tTc	p.Y217F	CACNG5_ENST00000307139.3_Missense_Mutation_p.Y217F			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	217				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089). {ECO:0000305}.	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CCTGGCTTCTACCGCCCTCGG	0.622													ENSG00000075429																																					0													62.0	55.0	57.0					17																	64881179		2203	4300	6503	SO:0001583	missense	0			-	AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"""Calcium channel subunits"""	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.650A>T	17.37:g.64881179A>T	ENSP00000436836:p.Tyr217Phe		A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su	p.Y217F	ENST00000533854.1	37	c.650	CCDS11665.1	17	.	.	.	.	.	.	.	.	.	.	A	23.0	4.363194	0.82353	.	.	ENSG00000075429	ENST00000533854;ENST00000307139	T;T	0.44881	0.91;0.91	3.42	3.42	0.39159	.	.	.	.	.	T	0.46073	0.1374	L	0.29908	0.895	0.80722	D	1	D	0.63880	0.993	D	0.65443	0.935	T	0.19712	-1.0297	9	0.19590	T	0.45	.	12.1181	0.53875	1.0:0.0:0.0:0.0	.	217	Q9UF02	CCG5_HUMAN	F	217	ENSP00000436836:Y217F;ENSP00000303092:Y217F	ENSP00000303092:Y217F	Y	+	2	0	CACNG5	62311641	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.462000	0.90374	1.815000	0.52974	0.491000	0.48974	TAC	-	CACNG5	-	NULL		0.622	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG5	HGNC	protein_coding	OTTHUMT00000389882.1	0	0		28	28		0.00		A	NM_014404, NM_145811		64881179	+1	16		42		tier1	no_errors	ENST00000307139	ensembl	human	known	74_37	missense	27.59		SNP	1.000	T	16	42
ADAM6	8755	genome.wustl.edu	37	14	106437037	106437074	+	lincRNA	DEL	CATGGTTTCGTTATACACAGGAGCAAGTGTTTCAAAAA	CATGGTTTCGTTATACACAGGAGCAAGTGTTTCAAAAA	-	rs71405043|rs571004730	byFrequency	TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	CATGGTTTCGTTATACACAGGAGCAAGTGTTTCAAAAA	CATGGTTTCGTTATACACAGGAGCAAGTGTTTCAAAAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr14:106437037_106437074delCATGGTTTCGTTATACACAGGAGCAAGTGTTTCAAAAA	ENST00000452053.1	-	0	586_623					NR_002224.2				ADAM metallopeptidase domain 6, pseudogene																		GAACCGTTGTCATGGTTTCGTTATACACAGGAGCAAGTGTTTCAAAAACACACCGGCC	0.462													ENSG00000233988		1095	0.21865	0.0734	0.17	5008	,	,		14745	0.4226		0.0964	False		,,,				2504	0.365																0																																												0				AI024595		14q32.33	2013-09-05	2012-08-22		ENSG00000233988	ENSG00000271968		"""ADAM metallopeptidase domain containing"""	213	pseudogene	pseudogene			"""chromosome 14 open reading frame 96"", ""a disintegrin and metalloproteinase domain 6"", ""ADAM metallopeptidase domain 6"""	C14orf96			Standard	NR_002224		Approved	tMDCIV	uc001ysu.1		OTTHUMG00000152319		14.37:g.106437037_106437074delCATGGTTTCGTTATACACAGGAGCAAGTGTTTCAAAAA				R	DEL	-	NULL	ENST00000452053.1	37	NULL		14																																																																																				ADAM6	-	-		0.462	ADAM6-001	KNOWN	basic	lincRNA	ADAM6	HGNC	lincRNA	OTTHUMT00000325881.1									CATGGTTTCGTTATACACAGGAGCAAGTGTTTCAAAAA	NR_002224		106437074	-1					tier1	no_errors	ENST00000452053	ensembl	human	known	74_37	rna			DEL	0.000:0.000:0.000:0.002:0.002:0.003:0.003:0.001:0.000:0.001:0.002:0.002:0.002:0.002:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.002:0.001:0.000:0.000:0.000:0.001:0.000:0.000:0.000:0.001:0.000:0.000:0.000:0.000:0.000:0.000	-		
PRR32	100130613	genome.wustl.edu	37	X	125954692	125954692	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chrX:125954692G>T	ENST00000371125.3	+	2	151	c.71G>T	c.(70-72)gGg>gTg	p.G24V		NM_001122716.1	NP_001116188.1	B1ATL7	PRR32_HUMAN		24																	GACAAAAATGGGAACCAGGAG	0.517													ENSG00000183631																																					0													47.0	39.0	41.0					X																	125954692		692	1591	2283	SO:0001583	missense	0			-																												ENST00000371125.3:c.71G>T	X.37:g.125954692G>T	ENSP00000360166:p.Gly24Val			Missense_Mutation	SNP	NULL	p.G24V	ENST00000371125.3	37	c.71	CCDS48163.1	X	.	.	.	.	.	.	.	.	.	.	G	12.51	1.959069	0.34565	.	.	ENSG00000183631	ENST00000371125	T	0.30448	1.53	4.16	1.42	0.22433	.	.	.	.	.	T	0.35128	0.0921	L	0.27053	0.805	0.09310	N	0.999999	D	0.67145	0.996	D	0.67725	0.953	T	0.12785	-1.0534	9	0.66056	D	0.02	.	5.6768	0.17753	0.3668:0.0:0.6332:0.0	.	24	B1ATL7	CX064_HUMAN	V	24	ENSP00000360166:G24V	ENSP00000360166:G24V	G	+	2	0	CXorf64	125782373	0.000000	0.05858	0.000000	0.03702	0.306000	0.27790	0.030000	0.13688	0.162000	0.19483	-0.192000	0.12808	GGG	-	CXorf64	-	NULL		0.517	CXorf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf64	HGNC	protein_coding	OTTHUMT00000058188.1	0	0		23	23		0.00		G			125954692	+1	12		13		tier1	no_errors	ENST00000371125	ensembl	human	known	74_37	missense	48.00		SNP	0.000	T	12	13
ZNF665	79788	genome.wustl.edu	37	19	53678802	53678802	+	Intron	SNP	A	A	G			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr19:53678802A>G	ENST00000600412.1	-	2	63				ZNF665_ENST00000396424.3_Missense_Mutation_p.V13A			Q9H7R5	ZN665_HUMAN	zinc finger protein 665						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)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TTCTATGGCCACATCCTTGAA	0.433													ENSG00000197497																																					0													119.0	120.0	120.0					19																	53678802		2203	4300	6503	SO:0001627	intron_variant	0			-		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.53-9202T>C	19.37:g.53678802A>G			A8K5T8	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.V13A	ENST00000600412.1	37	c.38		19	.	.	.	.	.	.	.	.	.	.	A	16.70	3.195162	0.58017	.	.	ENSG00000197497	ENST00000396424	T	0.10382	2.88	2.67	2.67	0.31697	.	.	.	.	.	T	0.24890	0.0604	.	.	.	0.23454	N	0.997643	D	0.69078	0.997	D	0.64042	0.921	T	0.02844	-1.1103	8	0.87932	D	0	.	8.8024	0.34916	1.0:0.0:0.0:0.0	.	13	Q9H7R5-2	.	A	13	ENSP00000379702:V13A	ENSP00000379702:V13A	V	-	2	0	ZNF665	58370614	0.995000	0.38212	0.994000	0.49952	0.876000	0.50452	3.360000	0.52299	1.214000	0.43395	0.533000	0.62120	GTG	-	ZNF665	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.433	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	ZNF665	HGNC	protein_coding	OTTHUMT00000464179.1	0	0		86	86		0.00		A	NM_024733		53678802	-1	17		152		tier1	no_errors	ENST00000396424	ensembl	human	known	74_37	missense	10.00		SNP	1.000	G	17	152
GCK	2645	genome.wustl.edu	37	7	44189417	44189417	+	Silent	SNP	C	C	A			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr7:44189417C>A	ENST00000403799.3	-	6	1090	c.621G>T	c.(619-621)gtG>gtT	p.V207V	GCK_ENST00000395796.3_Silent_p.V206V|GCK_ENST00000345378.2_Silent_p.V208V|GCK_ENST00000437084.1_Silent_p.V190V	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	207	Hexokinase type-1.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TCATCGTGGCCACCGTGTCAT	0.567													ENSG00000106633																																					0													168.0	139.0	149.0					7																	44189417		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.621G>T	7.37:g.44189417C>A			A4D2J2|A4D2J3|Q05810	Silent	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.V208	ENST00000403799.3	37	c.624	CCDS5479.1	7																																																																																			-	GCK	-	pfam_Hexokinase_N,prints_Hexokinase		0.567	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCK	HGNC	protein_coding	OTTHUMT00000251069.2	0	0		33	33		0.00		C			44189417	-1	16		30		tier1	no_errors	ENST00000345378	ensembl	human	known	74_37	silent	34.78		SNP	1.000	A	16	30
DACH1	1602	genome.wustl.edu	37	13	72440659	72440664	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-	rs202136379		TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	GCCGCC	GCCGCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr13:72440659_72440664delGCCGCC	ENST00000359684.2	-	1	243_248	c.244_249delGGCGGC	c.(244-249)ggcggcdel	p.GG82del	DACH1_ENST00000354591.4_In_Frame_Del_p.GG82del|DACH1_ENST00000313174.7_In_Frame_Del_p.GG82del|DACH1_ENST00000305425.4_In_Frame_Del_p.GG82del			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	82	Poly-Gly.			Missing (in Ref. 1; AAF01351 and 2; AAL08487). {ECO:0000305}.	cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		cgcctccgctgccgccgccgccgccg	0.791													ENSG00000165659																																					0																																										SO:0001651	inframe_deletion	0				AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.244_249delGGCGGC	13.37:g.72440665_72440670delGCCGCC	ENSP00000352712:p.Gly82_Gly83del		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	In_Frame_Del	DEL	pfam_Transform_Ski,superfamily_D-bd_dom_put	p.GG82in_frame_del	ENST00000359684.2	37	c.249_244		13																																																																																				DACH1	-	NULL		0.791	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	DACH1	HGNC	protein_coding	OTTHUMT00000045240.1									GCCGCC	NM_004392		72440664	-1					tier1	no_errors	ENST00000359684	ensembl	human	known	74_37	in_frame_del			DEL	0.750:0.744:0.739:0.734:0.729:0.725	-		
DAND5	199699	genome.wustl.edu	37	19	13084345	13084345	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr19:13084345C>T	ENST00000317060.2	+	2	646	c.467C>T	c.(466-468)gCa>gTa	p.A156V	DAND5_ENST00000585548.1_3'UTR	NM_152654.2	NP_689867.1	Q8N907	DAND5_HUMAN	DAN domain family member 5, BMP antagonist	156	CTCK.				atrial septum development (GO:0003283)|determination of heart left/right asymmetry (GO:0061371)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of nodal signaling pathway (GO:1900108)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|sequestering of nodal from receptor via nodal binding (GO:0038101)|ventricular septum development (GO:0003281)	extracellular region (GO:0005576)	morphogen activity (GO:0016015)			kidney(2)|lung(3)|ovary(1)	6			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			AAGCGTTGGGCACCCGTGGTC	0.592													ENSG00000179284																																					0													161.0	133.0	143.0					19																	13084345		2203	4300	6503	SO:0001583	missense	0			-	AK095926	CCDS12291.1	19p13	2013-02-26	2013-02-26			ENSG00000179284			26780	protein-coding gene	gene with protein product		609068	"""DAN domain family, member 5"""			15254711	Standard	NM_152654		Approved	FLJ38607, CKTSF1B3, DANTE, GREM3, CER2, DTE	uc002mwc.1	Q8N907		ENST00000317060.2:c.467C>T	19.37:g.13084345C>T	ENSP00000323155:p.Ala156Val			Missense_Mutation	SNP	pfam_DAN,pirsf_Cerberus	p.A156V	ENST00000317060.2	37	c.467	CCDS12291.1	19	.	.	.	.	.	.	.	.	.	.	C	4.366	0.067408	0.08388	.	.	ENSG00000179284	ENST00000317060	T	0.27256	1.68	5.67	-5.12	0.02893	DAN (1);	1.578800	0.04420	N	0.367407	T	0.08223	0.0205	N	0.01464	-0.85	0.09310	N	1	B	0.13594	0.008	B	0.11329	0.006	T	0.44605	-0.9317	10	0.02654	T	1	1.6309	12.3056	0.54900	0.0:0.2422:0.0:0.7578	.	156	Q8N907	DAND5_HUMAN	V	156	ENSP00000323155:A156V	ENSP00000323155:A156V	A	+	2	0	DAND5	12945345	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.122000	0.10627	-0.658000	0.05366	0.655000	0.94253	GCA	-	DAND5	-	pfam_DAN,pirsf_Cerberus		0.592	DAND5-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	DAND5	HGNC	protein_coding	OTTHUMT00000452761.1	0	0		36	36		0.00		C	NM_152654		13084345	+1	18		44		tier1	no_errors	ENST00000317060	ensembl	human	known	74_37	missense	29.03		SNP	0.000	T	18	44
OGN	4969	genome.wustl.edu	37	9	95155370	95155370	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr9:95155370A>G	ENST00000262551.4	-	4	845	c.425T>C	c.(424-426)aTa>aCa	p.I142T	OGN_ENST00000468743.1_5'UTR|OGN_ENST00000375561.5_Missense_Mutation_p.I142T|CENPP_ENST00000375587.3_Intron	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	142					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|negative regulation of smooth muscle cell proliferation (GO:0048662)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)		p.I142K(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						TAACTTACGTATGTCTGCAAA	0.343													ENSG00000106809																																					1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											76.0	68.0	71.0					9																	95155370		2203	4300	6503	SO:0001583	missense	0			-	AI424992	CCDS6695.1	9q22	2008-02-05	2007-02-16		ENSG00000106809	ENSG00000106809		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	8126	protein-coding gene	gene with protein product	"""mimecan proteoglycan"""	602383	"""osteoglycin (osteoinductive factor)"""			2372374	Standard	NM_033014		Approved	mimecan, OIF, SLRR3A	uc004asa.3	P20774	OTTHUMG00000020224	ENST00000262551.4:c.425T>C	9.37:g.95155370A>G	ENSP00000262551:p.Ile142Thr		Q6FIB0|Q9UF90|Q9UNK5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.I142T	ENST00000262551.4	37	c.425	CCDS6695.1	9	.	.	.	.	.	.	.	.	.	.	A	15.20	2.761835	0.49468	.	.	ENSG00000106809	ENST00000262551;ENST00000375561;ENST00000447356	T;T;T	0.56941	0.43;0.43;0.43	4.85	4.85	0.62838	.	0.191833	0.53938	D	0.000056	T	0.36468	0.0968	N	0.12637	0.245	0.45747	D	0.998649	B;B	0.31931	0.316;0.347	B;B	0.30646	0.118;0.111	T	0.41945	-0.9480	10	0.87932	D	0	.	14.7485	0.69508	1.0:0.0:0.0:0.0	.	200;142	B4DI63;P20774	.;MIME_HUMAN	T	142;142;200	ENSP00000262551:I142T;ENSP00000364711:I142T;ENSP00000396709:I200T	ENSP00000262551:I142T	I	-	2	0	OGN	94195191	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.784000	0.68990	1.968000	0.57251	0.455000	0.32223	ATA	-	OGN	-	smart_Leu-rich_rpt_typical-subtyp		0.343	OGN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OGN	HGNC	protein_coding	OTTHUMT00000053087.1	0	0		63	63		0.00		A	NM_024416		95155370	-1	14		76		tier1	no_errors	ENST00000262551	ensembl	human	known	74_37	missense	15.56		SNP	1.000	G	14	76
NUCB2	4925	genome.wustl.edu	37	11	17316992	17316992	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr11:17316992A>G	ENST00000529010.1	+	3	341	c.122A>G	c.(121-123)gAa>gGa	p.E41G	NUCB2_ENST00000323688.6_Missense_Mutation_p.E41G|NUCB2_ENST00000458064.2_Missense_Mutation_p.E41G	NM_005013.2	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2	41						cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						CACCCTGTGGAAAGTGCGAAG	0.343													ENSG00000070081																																					0													187.0	169.0	175.0					11																	17316992		1850	4100	5950	SO:0001583	missense	0			-	AF052642	CCDS41623.1	11p15.1	2013-01-10						"""EF-hand domain containing"""	8044	protein-coding gene	gene with protein product		608020				7811391	Standard	NM_005013		Approved	NEFA	uc001mmw.3	P80303		ENST00000529010.1:c.122A>G	11.37:g.17316992A>G	ENSP00000436455:p.Glu41Gly		A8K642|D3DQX5|Q8NFT5	Missense_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.E41G	ENST00000529010.1	37	c.122	CCDS41623.1	11	.	.	.	.	.	.	.	.	.	.	A	20.8	4.055052	0.75960	.	.	ENSG00000070081	ENST00000530527;ENST00000526120;ENST00000533738;ENST00000323688;ENST00000529010;ENST00000529313;ENST00000533926;ENST00000458064	T;T;T	0.21361	2.01;2.01;2.04	5.7	5.7	0.88788	.	0.432895	0.28901	N	0.013775	T	0.28134	0.0694	M	0.77103	2.36	0.53688	D	0.999975	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.09377	0.004;0.002;0.002	T	0.04255	-1.0965	9	.	.	.	-7.8316	14.5454	0.68027	1.0:0.0:0.0:0.0	.	41;41;41	E7EV42;P80303;D3DQX5	.;NUCB2_HUMAN;.	G	41	ENSP00000320168:E41G;ENSP00000436455:E41G;ENSP00000408702:E41G	.	E	+	2	0	NUCB2	17273568	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.246000	0.78247	2.173000	0.68751	0.528000	0.53228	GAA	-	NUCB2	-	NULL		0.343	NUCB2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUCB2	HGNC	protein_coding	OTTHUMT00000387614.2	0	0		59	59		0.00		A	NM_005013		17316992	+1	8		68		tier1	no_errors	ENST00000323688	ensembl	human	known	74_37	missense	10.53		SNP	1.000	G	8	68
DUSP10	11221	genome.wustl.edu	37	1	221875662	221875662	+	3'UTR	DEL	A	A	-	rs3215279		TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr1:221875662delA	ENST00000366899.3	-	0	1779				DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000544095.1_3'UTR|DUSP10_ENST00000323825.3_3'UTR	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10						inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		TCCCAACTACAAAAAAAAAAA	0.348													ENSG00000143507																																					0																																										SO:0001624	3_prime_UTR_variant	0				AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.*92T>-	1.37:g.221875662delA			D3DTB4|Q6GSI4|Q9H9Z5	R	DEL	-	NULL	ENST00000366899.3	37	NULL	CCDS1528.1	1																																																																																				DUSP10	-	-		0.348	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP10	HGNC	protein_coding	OTTHUMT00000090716.1	0	0		13	13		0.00		A	NM_007207		221875662	-1	3		16		tier1	no_errors	ENST00000468085	ensembl	human	known	74_37	rna	15.79		DEL	0.040	-	3	16
PSG11	5680	genome.wustl.edu	37	19	43523004	43523004	+	Missense_Mutation	SNP	C	C	A	rs142166158		TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr19:43523004C>A	ENST00000401740.1	-	3	730	c.627G>T	c.(625-627)aaG>aaT	p.K209N	PSG11_ENST00000306322.7_Missense_Mutation_p.K87N|PSG11_ENST00000595312.1_5'UTR|PSG11_ENST00000403486.1_Missense_Mutation_p.K87N|PSG11_ENST00000320078.7_Missense_Mutation_p.K209N			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	209	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CTGCAGTATACTTTGTGACAC	0.498													ENSG00000243130																																					0								C	ASN/LYS,ASN/LYS,ASN/LYS	0,4400		0,0,2200	239.0	251.0	247.0		261,627,261	-0.0	0.0	19	dbSNP_134	247	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense,missense	PSG11	NM_001113410.1,NM_002785.2,NM_203287.1	94,94,94	0,1,6497	AA,AC,CC		0.0116,0.0,0.0077	,,	87/214,209/336,87/214	43523004	1,12995	2200	4298	6498	SO:0001583	missense	0			-	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9516	protein-coding gene	gene with protein product	"""pregnancy specific beta-1-glycoprotein 13"""	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.627G>T	19.37:g.43523004C>A	ENSP00000384995:p.Lys209Asn		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.K209N	ENST00000401740.1	37	c.627	CCDS12614.2	19	.	.	.	.	.	.	.	.	.	.	c	6.368	0.436084	0.12104	0.0	1.16E-4	ENSG00000243130	ENST00000320078;ENST00000403486;ENST00000306322;ENST00000401740	T;T;T;T	0.12569	2.67;2.67;2.67;2.67	1.13	-0.0155	0.13976	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13243	0.0321	L	0.46157	1.445	0.09310	N	1	P;B	0.38335	0.627;0.022	B;B	0.42827	0.399;0.06	T	0.27088	-1.0084	9	0.72032	D	0.01	.	2.9657	0.05907	0.0:0.6454:0.0:0.3546	.	87;209	Q9UQ72-2;Q9UQ72	.;PSG11_HUMAN	N	209;87;87;209	ENSP00000319140:K209N;ENSP00000385427:K87N;ENSP00000304913:K87N;ENSP00000384995:K209N	ENSP00000304913:K87N	K	-	3	2	PSG11	48214844	0.003000	0.15002	0.002000	0.10522	0.006000	0.05464	0.155000	0.16362	0.567000	0.29293	0.184000	0.17185	AAG	rs142166158	PSG11	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.498	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG11	HGNC	protein_coding	OTTHUMT00000323079.1	0	0		166	166		0.00		C	NM_002785		43523004	-1	29		201		tier1	no_errors	ENST00000320078	ensembl	human	known	74_37	missense	12.61		SNP	0.003	A	29	201
LILRB3	11025	genome.wustl.edu	37	19	54723010	54723010	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr19:54723010G>A	ENST00000391750.1	-	9	1550	c.1414C>T	c.(1414-1416)Cac>Tac	p.H472Y	LILRA6_ENST00000419410.2_Missense_Mutation_p.H472Y|LILRA6_ENST00000440558.2_Missense_Mutation_p.H472Y|LILRB3_ENST00000469273.1_5'UTR|LILRB3_ENST00000245620.9_Missense_Mutation_p.H472Y|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000346401.6_Missense_Mutation_p.H484Y|LILRB3_ENST00000407860.2_Missense_Mutation_p.H489Y|LILRB3_ENST00000424807.1_Missense_Mutation_p.H472Y|LILRA6_ENST00000270464.5_Missense_Mutation_p.H472Y			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	472					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GATGTCCTGTGTTTGCTGTGA	0.612													ENSG00000204577																																					0													143.0	108.0	120.0					19																	54723010		2203	4300	6503	SO:0001583	missense	0			-	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1414C>T	19.37:g.54723010G>A	ENSP00000375630:p.His472Tyr		C9J1P3|C9JIP1|O15471|Q86U49	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.H489Y	ENST00000391750.1	37	c.1465	CCDS33105.1	19	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.244540	0.00271	.	.	ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000244482;ENSG00000244482;ENSG00000244482	ENST00000391750;ENST00000424807;ENST00000346401;ENST00000245620;ENST00000407860;ENST00000440558;ENST00000270464;ENST00000419410	T;T;T;T;T;T;T;T	0.00493	7.02;7.02;7.02;7.02;7.0;7.0;7.02;7.03	2.82	-5.64	0.02466	.	9.129300	0.00496	U	0.000154	T	0.00637	0.0021	M	0.62723	1.935	0.09310	N	1	P;P;P;P;B;B;B	0.49696	0.814;0.927;0.692;0.902;0.065;0.006;0.01	B;P;B;P;B;B;B	0.51582	0.424;0.628;0.157;0.674;0.064;0.017;0.037	T	0.57365	-0.7824	10	0.02654	T	1	.	3.4894	0.07632	0.3128:0.4473:0.1276:0.1123	.	489;472;472;484;489;472;472	B5MCX0;F8WCY4;D3YTC4;F8W6G6;O75022-2;O75022;O75022-3	.;.;.;.;.;LIRB3_HUMAN;.	Y	472;472;484;472;489;472;472;472	ENSP00000375630:H472Y;ENSP00000412771:H472Y;ENSP00000345184:H484Y;ENSP00000245620:H472Y;ENSP00000384274:H489Y;ENSP00000390120:H472Y;ENSP00000270464:H472Y;ENSP00000411227:H472Y	ENSP00000270464:H472Y	H	-	1	0	LILRB3;LILRA6	59414822	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.243000	0.00543	-3.171000	0.00225	0.447000	0.29281	CAC	-	LILRB3	-	NULL		0.612	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB3	HGNC	protein_coding	OTTHUMT00000142844.5	0	0		58	58		0.00		G	NM_006864		54723010	-1	7		58		tier1	no_errors	ENST00000407860	ensembl	human	known	74_37	missense	10.77		SNP	0.000	A	7	58
WFIKKN2	124857	genome.wustl.edu	37	17	48917817	48917817	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr17:48917817G>A	ENST00000311378.4	+	2	1696	c.1168G>A	c.(1168-1170)Gcc>Acc	p.A390T	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Missense_Mutation_p.A297T	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	390	BPTI/Kunitz inhibitor 2. {ECO:0000255|PROSITE-ProRule:PRU00031}.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CAGCCTGCCCGCCCTGCAGGG	0.657													ENSG00000173714																																					0													35.0	35.0	35.0					17																	48917817		2203	4297	6500	SO:0001583	missense	0			-	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.1168G>A	17.37:g.48917817G>A	ENSP00000311184:p.Ala390Thr		Q6UXZ9	Missense_Mutation	SNP	pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Netrin_module_non-TIMP,pfam_WAP-type_4-diS_core,pfam_Kazal_dom,pfam_Ig_V-set,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Prot_inh_Kunz-m	p.A390T	ENST00000311378.4	37	c.1168	CCDS11575.1	17	.	.	.	.	.	.	.	.	.	.	g	15.29	2.788242	0.49997	.	.	ENSG00000173714	ENST00000426127;ENST00000311378;ENST00000393226	T;T	0.58506	0.33;0.33	5.41	3.4	0.38934	Proteinase inhibitor I2, Kunitz metazoa (6);	0.098130	0.64402	D	0.000001	T	0.60612	0.2282	M	0.81802	2.56	0.42354	D	0.992382	P	0.38455	0.632	B	0.35240	0.198	T	0.66268	-0.5966	10	0.48119	T	0.1	.	17.3692	0.87371	0.0:0.1512:0.8488:0.0	.	390	Q8TEU8	WFKN2_HUMAN	T	297;390;96	ENSP00000405889:A297T;ENSP00000311184:A390T	ENSP00000311184:A390T	A	+	1	0	WFIKKN2	46272816	1.000000	0.71417	0.850000	0.33497	0.960000	0.62799	4.318000	0.59190	0.640000	0.30582	0.556000	0.70494	GCC	-	WFIKKN2	-	pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m		0.657	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFIKKN2	HGNC	protein_coding	OTTHUMT00000368358.1	0	0		33	33		0.00		G	NM_175575		48917817	+1	9		57		tier1	no_errors	ENST00000311378	ensembl	human	known	74_37	missense	13.64		SNP	0.883	A	9	57
PCDHAC2	56134	genome.wustl.edu	37	5	140347067	140347067	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr5:140347067G>T	ENST00000289269.5	+	1	1248	c.716G>T	c.(715-717)gGt>gTt	p.G239V	PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000253807.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	239	Cadherin 2. {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)			GCCCGCTCGGGTACGGCACAG	0.622													ENSG00000243232																									Melanoma(190;638 2083 3390 11909 52360)												0													60.0	59.0	59.0					5																	140347067		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.716G>T	5.37:g.140347067G>T	ENSP00000289269:p.Gly239Val		Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G239V	ENST00000289269.5	37	c.716	CCDS4242.1	5	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371588	0.61624	.	.	ENSG00000243232	ENST00000289269	T	0.55413	0.52	5.72	5.72	0.89469	Cadherin (4);Cadherin-like (1);	0.000000	0.42821	D	0.000643	T	0.80849	0.4702	H	0.95365	3.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.98	D	0.86107	0.1560	10	0.87932	D	0	.	16.1595	0.81693	0.0:0.1332:0.8668:0.0	.	239;239	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	V	239	ENSP00000289269:G239V	ENSP00000289269:G239V	G	+	2	0	PCDHAC2	140327251	1.000000	0.71417	0.961000	0.40146	0.919000	0.55068	6.532000	0.73825	2.713000	0.92767	0.561000	0.74099	GGT	-	PCDHAC2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.622	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHAC2	HGNC	protein_coding	OTTHUMT00000251802.2	0	0		30	30		0.00		G	NM_018899		140347067	+1	9		35		tier1	no_errors	ENST00000289269	ensembl	human	known	74_37	missense	20.45		SNP	1.000	T	9	35
AURKB	9212	genome.wustl.edu	37	17	8110163	8110163	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr17:8110163T>A	ENST00000585124.1	-	6	535	c.442A>T	c.(442-444)Agg>Tgg	p.R148W	AURKB_ENST00000316199.6_Missense_Mutation_p.R149W|AURKB_ENST00000578549.1_Missense_Mutation_p.R116W|AURKB_ENST00000534871.1_Missense_Mutation_p.R107W|AURKB_ENST00000535053.1_Intron	NM_004217.3	NP_004208.2	Q96GD4	AURKB_HUMAN	aurora kinase B	148	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				abscission (GO:0009838)|aging (GO:0007568)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|cleavage furrow formation (GO:0036089)|cytokinesis checkpoint (GO:0031565)|histone H3-S28 phosphorylation (GO:0043988)|histone modification (GO:0016570)|mitotic cell cycle (GO:0000278)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytokinesis (GO:0032467)|protein autophosphorylation (GO:0046777)|protein localization to kinetochore (GO:0034501)|protein phosphorylation (GO:0006468)|regulation of chromosome segregation (GO:0051983)|spindle checkpoint (GO:0031577)|spindle midzone assembly involved in mitosis (GO:0051256)|spindle stabilization (GO:0043146)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|central_nervous_system(1)|lung(2)	4						TAGATCCTCCTCCGGTCATAA	0.537													ENSG00000178999																									NSCLC(134;1161 2470 43664 51568)												0													37.0	38.0	38.0					17																	8110163		2203	4300	6503	SO:0001583	missense	0			-	AF004022	CCDS11134.1, CCDS58514.1, CCDS67162.1	17p13.1	2013-01-17	2003-07-21	2003-07-23	ENSG00000178999	ENSG00000178999		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	11390	protein-coding gene	gene with protein product	"""aurora-B"", ""aurora-1"", ""protein phosphatase 1, regulatory subunit 48"""	604970	"""serine/threonine kinase 12"""	STK12		9858806	Standard	NM_001256834		Approved	Aik2, IPL1, AurB, AIM-1, ARK2, STK5, PPP1R48	uc002gkm.4	Q96GD4	OTTHUMG00000108189	ENST00000585124.1:c.442A>T	17.37:g.8110163T>A	ENSP00000463999:p.Arg148Trp		B4DNM4|C7G533|C7G534|C7G535|D3DTR4|J9JID1|O14630|O60446|O95083|Q96DV5|Q9UQ46	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R148W	ENST00000585124.1	37	c.442	CCDS11134.1	17	.	.	.	.	.	.	.	.	.	.	T	12.83	2.054909	0.36277	.	.	ENSG00000178999	ENST00000316199;ENST00000534871	T;T	0.08634	3.07;3.09	6.07	-1.51	0.08664	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.466082	0.22311	N	0.061728	T	0.16300	0.0392	L	0.58510	1.815	0.09310	N	1	D;D	0.62365	0.991;0.991	P;P	0.58520	0.84;0.84	T	0.04915	-1.0918	10	0.87932	D	0	-13.9679	10.4811	0.44693	0.0751:0.0:0.4297:0.4952	.	148;148	C7G533;Q96GD4	.;AURKB_HUMAN	W	148;107	ENSP00000313950:R148W;ENSP00000443869:R107W	ENSP00000313950:R148W	R	-	1	2	AURKB	8050888	0.000000	0.05858	0.699000	0.30290	0.970000	0.65996	0.246000	0.18160	0.025000	0.15241	0.533000	0.62120	AGG	-	AURKB	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.537	AURKB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AURKB	HGNC	protein_coding	OTTHUMT00000226995.2	0	0		64	64		0.00		T	NM_004217		8110163	-1	13		43		tier1	no_errors	ENST00000585124	ensembl	human	known	74_37	missense	23.21		SNP	0.009	A	13	43
ARVCF	421	genome.wustl.edu	37	22	19961646	19961646	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr22:19961646C>T	ENST00000263207.3	-	12	2368	c.2077G>A	c.(2077-2079)Ggc>Agc	p.G693S	ARVCF_ENST00000406259.1_Missense_Mutation_p.G687S|ARVCF_ENST00000401994.1_Missense_Mutation_p.G630S|ARVCF_ENST00000406522.1_Missense_Mutation_p.G624S|ARVCF_ENST00000344269.3_Missense_Mutation_p.G630S	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	693					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					ATCCAGTTGCCGGCACTGAGG	0.667													ENSG00000099889																																					0													51.0	52.0	52.0					22																	19961646		2203	4300	6503	SO:0001583	missense	0			-		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.2077G>A	22.37:g.19961646C>T	ENSP00000263207:p.Gly693Ser		B7WNV2	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.G693S	ENST00000263207.3	37	c.2077	CCDS13771.1	22	.	.	.	.	.	.	.	.	.	.	C	34	5.336089	0.95758	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	4.68	4.68	0.58851	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67505	0.2900	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.955;1.0	T	0.70945	-0.4734	9	.	.	.	-12.0975	16.8906	0.86086	0.0:1.0:0.0:0.0	.	693;209	O00192;E7EV58	ARVC_HUMAN;.	S	693;630;630;624;687	ENSP00000263207:G693S;ENSP00000342042:G630S;ENSP00000384341:G630S;ENSP00000384732:G624S;ENSP00000385444:G687S	.	G	-	1	0	ARVCF	18341646	1.000000	0.71417	0.959000	0.39883	0.959000	0.62525	5.703000	0.68340	2.596000	0.87737	0.561000	0.74099	GGC	-	ARVCF	-	superfamily_ARM-type_fold		0.667	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARVCF	HGNC	protein_coding	OTTHUMT00000075314.5	0	0		72	72		0.00		C	NM_001670		19961646	-1	42		89		tier1	no_errors	ENST00000263207	ensembl	human	known	74_37	missense	32.06		SNP	1.000	T	42	89
SLC2A13	114134	genome.wustl.edu	37	12	40345132	40345132	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr12:40345132G>T	ENST00000280871.4	-	4	1011	c.961C>A	c.(961-963)Cca>Aca	p.P321T	SLC2A13_ENST00000380858.1_Missense_Mutation_p.P321T	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	321					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				CGGCGAGTTGGGGGATAACTC	0.373										HNSCC(50;0.14)			ENSG00000151229																																					0													81.0	81.0	81.0					12																	40345132		2203	4300	6503	SO:0001583	missense	0			-	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.961C>A	12.37:g.40345132G>T	ENSP00000280871:p.Pro321Thr		Q17S07	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Plexin-like_fold,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	p.P321T	ENST00000280871.4	37	c.961	CCDS8736.2	12	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189672	0.38707	.	.	ENSG00000151229	ENST00000280871;ENST00000380858	T;T	0.58506	0.33;0.33	5.21	5.21	0.72293	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.051545	0.85682	D	0.000000	T	0.48059	0.1479	L	0.41124	1.26	0.80722	D	1	B;B	0.32968	0.153;0.392	B;B	0.30401	0.115;0.115	T	0.42207	-0.9465	10	0.10377	T	0.69	-13.595	18.9337	0.92577	0.0:0.0:1.0:0.0	.	321;321	Q96QE2;E9PE47	MYCT_HUMAN;.	T	321	ENSP00000280871:P321T;ENSP00000370239:P321T	ENSP00000280871:P321T	P	-	1	0	SLC2A13	38631399	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.619000	0.90938	2.706000	0.92434	0.555000	0.69702	CCA	-	SLC2A13	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt		0.373	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A13	HGNC	protein_coding	OTTHUMT00000132849.2	0	0		92	92		0.00		G			40345132	-1	24		96		tier1	no_errors	ENST00000280871	ensembl	human	known	74_37	missense	19.83		SNP	1.000	T	24	96
ANKRD20A2	441430	genome.wustl.edu	37	9	42366967	42366967	+	5'Flank	SNP	C	C	A			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr9:42366967C>A	ENST00000377601.2	+	0	0				RP11-216M21.7_ENST00000450520.1_RNA	NM_001012421.1	NP_001012421.1	Q5SQ80	A20A2_HUMAN	ankyrin repeat domain 20 family, member A2											large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						AGGACGGGAACTGGCCGTTCA	0.607													ENSG00000233207																																					0																																										SO:0001631	upstream_gene_variant	0			-		CCDS35028.1	9p12	2013-01-10			ENSG00000183148	ENSG00000183148		"""Ankyrin repeat domain containing"""	31979	protein-coding gene	gene with protein product							Standard	XM_005272519		Approved			Q5SQ80	OTTHUMG00000058641		9.37:g.42366967C>A	Exception_encountered			R	SNP	-	NULL	ENST00000377601.2	37	NULL	CCDS35028.1	9																																																																																			-	RP11-216M21.7	-	-		0.607	ANKRD20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000233207	Clone_based_vega_gene	protein_coding	OTTHUMT00000129794.1	0	0		18	18		0.00		C	NM_001012421		42366967	-1	13		13		tier1	no_errors	ENST00000450520	ensembl	human	known	74_37	rna	50.00		SNP	0.126	A	13	13
TC2N	123036	genome.wustl.edu	37	14	92268696	92268696	+	Missense_Mutation	SNP	T	T	G			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr14:92268696T>G	ENST00000435962.2	-	4	694	c.371A>C	c.(370-372)tAt>tCt	p.Y124S	TC2N_ENST00000556018.1_Missense_Mutation_p.Y124S|TC2N_ENST00000360594.5_Missense_Mutation_p.Y124S|TC2N_ENST00000340892.5_Missense_Mutation_p.Y124S	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	124					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		ATACACATCATAGCTAGGTCC	0.428													ENSG00000165929																																					0													136.0	108.0	118.0					14																	92268696		2203	4300	6503	SO:0001583	missense	0			-	AA243837	CCDS9897.1, CCDS73679.1	14q32.12	2007-10-17	2007-08-17	2007-08-17		ENSG00000165929			19859	protein-coding gene	gene with protein product	"""C2 calcium-dependent domain containing 1"""		"""chromosome 14 open reading frame 47"", ""membrane targeting (tandem) C2 domain containing 1"""	C14orf47, MTAC2D1		11526914	Standard	NM_001128596		Approved	FLJ36557, Tac2-N, C2CD1	uc001xzt.4	Q8N9U0		ENST00000435962.2:c.371A>C	14.37:g.92268696T>G	ENSP00000387882:p.Tyr124Ser			Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.Y124S	ENST00000435962.2	37	c.371	CCDS9897.1	14	.	.	.	.	.	.	.	.	.	.	T	14.35	2.508862	0.44660	.	.	ENSG00000165929	ENST00000435962;ENST00000340892;ENST00000360594;ENST00000556018	T;T;T;T	0.13538	3.47;3.47;3.47;2.58	5.36	4.22	0.49857	.	0.368835	0.31673	N	0.007255	T	0.14013	0.0339	L	0.56769	1.78	0.39087	D	0.961011	B;B	0.32829	0.386;0.011	B;B	0.31337	0.128;0.001	T	0.05989	-1.0852	10	0.34782	T	0.22	-5.9749	9.6278	0.39761	0.0:0.1459:0.0:0.8541	.	124;124	Q8N9U0-2;Q8N9U0	.;TAC2N_HUMAN	S	124	ENSP00000387882:Y124S;ENSP00000343199:Y124S;ENSP00000353802:Y124S;ENSP00000451317:Y124S	ENSP00000343199:Y124S	Y	-	2	0	TC2N	91338449	0.967000	0.33354	0.990000	0.47175	0.741000	0.42261	0.570000	0.23653	0.875000	0.35847	0.528000	0.53228	TAT	-	TC2N	-	NULL		0.428	TC2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TC2N	HGNC	protein_coding	OTTHUMT00000411778.1	0	0		63	63		0.00		T	NM_152332		92268696	-1	10		49		tier1	no_errors	ENST00000340892	ensembl	human	known	74_37	missense	16.95		SNP	0.980	G	10	49
SLC4A9	83697	genome.wustl.edu	37	5	139751133	139751133	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr5:139751133C>G	ENST00000230993.6	+	19	2701	c.2666C>G	c.(2665-2667)aCa>aGa	p.T889R	SLC4A9_ENST00000506545.1_Missense_Mutation_p.T802R|SLC4A9_ENST00000506757.2_Missense_Mutation_p.T865R|SLC4A9_ENST00000432095.2_Missense_Mutation_p.T851R|CTC-329D1.2_ENST00000507521.1_RNA|SLC4A9_ENST00000507527.1_Missense_Mutation_p.T889R	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	889	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCTCTTCACAGCCATCCAG	0.547													ENSG00000113073																																					0													136.0	139.0	138.0					5																	139751133		2064	4226	6290	SO:0001583	missense	0			-	AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"""Solute carriers"""	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.2666C>G	5.37:g.139751133C>G	ENSP00000230993:p.Thr889Arg		B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.T889R	ENST00000230993.6	37	c.2666	CCDS58973.1	5	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663384	0.88251	.	.	ENSG00000113073	ENST00000230993;ENST00000506757;ENST00000432095;ENST00000506545;ENST00000507527	D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76	5.09	5.09	0.68999	Bicarbonate transporter, C-terminal (1);	0.000000	0.64402	D	0.000004	D	0.93831	0.8027	H	0.94385	3.53	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.95235	0.8346	10	0.87932	D	0	.	18.6839	0.91557	0.0:1.0:0.0:0.0	.	802;889;851;865	E9PDK1;Q96Q91;Q96Q91-2;Q96Q91-3	.;B3A4_HUMAN;.;.	R	889;865;851;802;889	ENSP00000230993:T889R;ENSP00000424424:T865R;ENSP00000410056:T851R;ENSP00000422855:T802R;ENSP00000427661:T889R	ENSP00000230993:T889R	T	+	2	0	SLC4A9	139731317	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.644000	0.83416	2.660000	0.90430	0.643000	0.83706	ACA	-	SLC4A9	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.547	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	SLC4A9	HGNC	protein_coding	OTTHUMT00000372823.1	0	0		25	25		0.00		C	NM_031467		139751133	+1	8		27		tier1	no_errors	ENST00000230993	ensembl	human	known	74_37	missense	22.86		SNP	1.000	G	8	27
TMEM67	91147	genome.wustl.edu	37	8	94827578	94827578	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr8:94827578C>T	ENST00000453321.3	+	27	2868	c.2810C>T	c.(2809-2811)gCt>gTt	p.A937V	TMEM67_ENST00000409623.3_Missense_Mutation_p.A856V	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	937					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			GGAAATGAAGCTACTCTTCTT	0.299													ENSG00000164953																																					0													148.0	125.0	133.0					8																	94827578		2203	4296	6499	SO:0001583	missense	0			-	BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"""Meckelin"""	609884	"""Meckel syndrome, type 3"""	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.2810C>T	8.37:g.94827578C>T	ENSP00000389998:p.Ala937Val		B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Missense_Mutation	SNP	pfam_Meckelin,superfamily_Growth_fac_rcpt_N_dom	p.A937V	ENST00000453321.3	37	c.2810	CCDS6258.2	8	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133662	0.37630	.	.	ENSG00000164953	ENST00000453321;ENST00000409623	D;D	0.96745	-4.11;-4.11	5.76	4.86	0.63082	.	0.186433	0.47093	D	0.000246	D	0.91918	0.7441	L	0.27053	0.805	0.36614	D	0.875352	B;B	0.34399	0.32;0.452	B;B	0.34991	0.193;0.164	D	0.91040	0.4870	10	0.08599	T	0.76	-10.8372	16.846	0.85981	0.0:0.8719:0.1281:0.0	.	937;856	Q5HYA8;G5E9H2	MKS3_HUMAN;.	V	937;856	ENSP00000389998:A937V;ENSP00000386966:A856V	ENSP00000314488:A927V	A	+	2	0	TMEM67	94896754	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.576000	0.60915	2.721000	0.93114	0.591000	0.81541	GCT	-	TMEM67	-	pfam_Meckelin		0.299	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM67	HGNC	protein_coding	OTTHUMT00000329641.2	0	0		42	42		0.00		C	NM_153704		94827578	+1	11		46		tier1	no_errors	ENST00000453321	ensembl	human	known	74_37	missense	19.30		SNP	1.000	T	11	46
FAT3	120114	genome.wustl.edu	37	11	92568224	92568224	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr11:92568224G>A	ENST00000298047.6	+	14	10077	c.10060G>A	c.(10060-10062)Gcc>Acc	p.A3354T	FAT3_ENST00000525166.1_Missense_Mutation_p.A3204T|FAT3_ENST00000409404.2_Missense_Mutation_p.A3354T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3354	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAGTGAAGACGCCTTGGTGGG	0.483										TCGA Ovarian(4;0.039)			ENSG00000165323																																					0													47.0	48.0	47.0					11																	92568224		1939	4145	6084	SO:0001583	missense	0			-	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10060G>A	11.37:g.92568224G>A	ENSP00000298047:p.Ala3354Thr		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.A3354T	ENST00000298047.6	37	c.10060		11	.	.	.	.	.	.	.	.	.	.	G	35	5.467291	0.96257	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.02682	4.2;4.2;4.2	5.46	5.46	0.80206	.	.	.	.	.	T	0.12050	0.0293	L	0.45581	1.43	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02560	-1.1141	9	0.42905	T	0.14	.	19.3231	0.94250	0.0:0.0:1.0:0.0	.	3354	Q8TDW7-3	.	T	3354;3354;3204	ENSP00000298047:A3354T;ENSP00000387040:A3354T;ENSP00000432586:A3204T	ENSP00000298047:A3354T	A	+	1	0	FAT3	92207872	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	6.626000	0.74253	2.539000	0.85634	0.655000	0.94253	GCC	-	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.483	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		0	0		36	36		0.00		G	NM_001008781		92568224	+1	12		41		tier1	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	22.64		SNP	1.000	A	12	41
OSBPL3	26031	genome.wustl.edu	37	7	24839766	24839766	+	3'UTR	SNP	A	A	G			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr7:24839766A>G	ENST00000313367.2	-	0	3151				OSBPL3_ENST00000353930.1_3'UTR|OSBPL3_ENST00000396431.1_3'UTR|OSBPL3_ENST00000352860.1_3'UTR|OSBPL3_ENST00000431825.2_3'UTR|OSBPL3_ENST00000396429.1_3'UTR|OSBPL3_ENST00000487020.1_5'UTR|OSBPL3_ENST00000409069.1_3'UTR	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3						lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CAAGCACAGGAGAAATACACT	0.353													ENSG00000070882																																					0													51.0	52.0	51.0					7																	24839766		2202	4299	6501	SO:0001624	3_prime_UTR_variant	0			-	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.*36T>C	7.37:g.24839766A>G			A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	R	SNP	-	NULL	ENST00000313367.2	37	NULL	CCDS5390.1	7																																																																																			-	OSBPL3	-	-		0.353	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL3	HGNC	protein_coding	OTTHUMT00000214085.2	0	0		45	45		0.00		A			24839766	-1	18		37		tier1	no_errors	ENST00000487020	ensembl	human	known	74_37	rna	32.73		SNP	0.111	G	18	37
CLEC9A	283420	genome.wustl.edu	37	12	10205421	10205421	+	Intron	DEL	T	T	-	rs375899502		TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr12:10205421delT	ENST00000355819.1	+	4	704				CLEC9A_ENST00000544751.1_3'UTR	NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A						positive regulation of cytokine secretion (GO:0050715)|receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						AGAGTTCATGTTTTTTTTTTT	0.378													ENSG00000197992																																					0													31.0	32.0	32.0					12																	10205421		2203	4300	6503	SO:0001627	intron_variant	0					CCDS8611.1	12p13.31	2010-04-27				ENSG00000197992		"""C-type lectin domain containing"""	26705	protein-coding gene	gene with protein product		612252					Standard	NM_207345		Approved	UNQ9341, HEEE9341	uc001qxa.3	Q6UXN8		ENST00000355819.1:c.91+44T>-	12.37:g.10205421delT			B0ZBM2	R	DEL	-	NULL	ENST00000355819.1	37	NULL	CCDS8611.1	12																																																																																				CLEC9A	-	-		0.378	CLEC9A-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	CLEC9A	HGNC	protein_coding	OTTHUMT00000399564.1	0	0		46	46		0.00		T	NM_207345		10205421	+1	4		36		tier1	no_errors	ENST00000544751	ensembl	human	known	74_37	rna	10.00		DEL	0.000	-	4	36
RP11-403I13.4	0	genome.wustl.edu	37	1	149265408	149265411	+	lincRNA	DEL	TTTG	TTTG	-	rs200322205		TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	TTTG	TTTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr1:149265408_149265411delTTTG	ENST00000325963.8	+	0	4955_4958																											TTTAATTTCCTTTGTTTGAATGAA	0.284													ENSG00000223779																																					0																																												0																																1.37:g.149265412_149265415delTTTG				R	DEL	-	NULL	ENST00000325963.8	37	NULL		1																																																																																				RP11-403I13.4	-	-		0.284	RP11-403I13.4-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	LOC100293748	Clone_based_vega_gene	lincRNA	OTTHUMT00000099551.1	0	0		22	22		0.00		TTTG			149265411	+1	5		21		tier1	no_errors	ENST00000325963	ensembl	human	known	74_37	rna	19.23		DEL	0.054:0.053:0.077:0.148	-	5	21
RSC1A1	6248	genome.wustl.edu	37	1	15987514	15987514	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr1:15987514C>T	ENST00000345034.1	+	1	1151	c.1151C>T	c.(1150-1152)aCc>aTc	p.T384I	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	384					intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CAATCAGAAACCATAGCTGAG	0.398													ENSG00000215695																																					0													53.0	51.0	52.0					1																	15987514		2203	4300	6503	SO:0001583	missense	0			-	BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.1151C>T	1.37:g.15987514C>T	ENSP00000341963:p.Thr384Ile		B2RBP5	Missense_Mutation	SNP	superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.T384I	ENST00000345034.1	37	c.1151	CCDS161.1	1	.	.	.	.	.	.	.	.	.	.	C	0.277	-0.989036	0.02162	.	.	ENSG00000215695	ENST00000345034	T	0.23147	1.92	5.29	-2.45	0.06481	.	1.192850	0.06565	N	0.747408	T	0.09335	0.0230	N	0.04508	-0.205	0.09310	N	1	B	0.13145	0.007	B	0.12837	0.008	T	0.28996	-1.0026	10	0.21540	T	0.41	-20.4739	2.2462	0.04032	0.1209:0.2828:0.134:0.4623	.	384	Q92681	RSCA1_HUMAN	I	384	ENSP00000341963:T384I	ENSP00000341963:T384I	T	+	2	0	RSC1A1	15860101	0.000000	0.05858	0.001000	0.08648	0.061000	0.15899	-0.813000	0.04491	-0.487000	0.06735	0.563000	0.77884	ACC	-	RSC1A1	-	NULL		0.398	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSC1A1	HGNC	protein_coding	OTTHUMT00000145500.1	0	0		33	33		0.00		C	NM_006511		15987514	+1	26		19		tier1	no_errors	ENST00000345034	ensembl	human	known	74_37	missense	57.78		SNP	0.002	T	26	19
ART5	116969	genome.wustl.edu	37	11	3657344	3657344	+	IGR	SNP	C	C	A			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr11:3657344C>A	ENST00000397068.3	-	0	1504				TRPC2_ENST00000526541.1_RNA	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5						protein ADP-ribosylation (GO:0006471)	extracellular region (GO:0005576)|membrane (GO:0016020)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ nucleosidase activity (GO:0003953)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGCCAATCCCAGGGCAGGG	0.602													ENSG00000182048																																					0																																										SO:0001628	intergenic_variant	0			-	Y16835	CCDS7743.1, CCDS73242.1	11p15.4	2008-02-05			ENSG00000167311	ENSG00000167311			24049	protein-coding gene	gene with protein product		610625				11587854, 10448534	Standard	NM_001079536		Approved		uc001lyb.1	Q96L15	OTTHUMG00000011842		11.37:g.3657344C>A			C9IYG7|Q6UX84|Q86W02	R	SNP	-	NULL	ENST00000397068.3	37	NULL	CCDS7743.1	11																																																																																			-	TRPC2	-	-		0.602	ART5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC2	HGNC	protein_coding	OTTHUMT00000032760.2	0	0		65	65		0.00		C	NM_053017		3657344	+1	20		44		tier1	no_errors	ENST00000526541	ensembl	human	known	74_37	rna	30.77		SNP	0.004	A	20	44
NTN4	59277	genome.wustl.edu	37	12	96180807	96180807	+	Silent	SNP	G	G	A			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr12:96180807G>A	ENST00000343702.4	-	2	943	c.495C>T	c.(493-495)tcC>tcT	p.S165S	NTN4_ENST00000344911.4_Silent_p.S128S|NTN4_ENST00000538383.1_Silent_p.S128S|NTN4_ENST00000553059.1_Silent_p.S165S	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	165	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CAAATGTAGCGGAGCAGTTAG	0.507													ENSG00000074527																																					0													106.0	99.0	101.0					12																	96180807		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"""Netrins"""	13658	protein-coding gene	gene with protein product	"""beta-netrin"", ""Netrin-4"""	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.495C>T	12.37:g.96180807G>A			B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Silent	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain	p.S165	ENST00000343702.4	37	c.495	CCDS9054.1	12																																																																																			-	NTN4	-	pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,pfscan_Laminin_N		0.507	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTN4	HGNC	protein_coding	OTTHUMT00000408372.1	0	0		50	50		0.00		G	NM_021229		96180807	-1	11		68		tier1	no_errors	ENST00000343702	ensembl	human	known	74_37	silent	13.92		SNP	0.000	A	11	68
AC008132.13	0	genome.wustl.edu	37	22	18839191	18839191	+	3'UTR	SNP	C	C	T			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr22:18839191C>T	ENST00000342005.4	+	0	1558				AC008132.13_ENST00000412938.1_3'UTR																							CAGGGCAGCTCCCCTGTAAGC	0.602													ENSG00000161103																																					0																																										SO:0001624	3_prime_UTR_variant	0			-																												ENST00000342005.4:c.*48C>T	22.37:g.18839191C>T				R	SNP	-	NULL	ENST00000342005.4	37	NULL		22																																																																																			-	AC008132.13	-	-		0.602	AC008132.13-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	ENSG00000161103	Clone_based_vega_gene	protein_coding	OTTHUMT00000316711.1	0	0		10	10		0.00		C			18839191	+1	9		18		tier1	no_errors	ENST00000412938	ensembl	human	known	74_37	rna	33.33		SNP	0.057	T	9	18
NRXN1	9378	genome.wustl.edu	37	2	50170914	50170914	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr2:50170914G>A	ENST00000406316.2	-	21	5530	c.4054C>T	c.(4054-4056)Ctt>Ttt	p.L1352F	NRXN1_ENST00000406859.3_Missense_Mutation_p.L1352F|NRXN1_ENST00000401710.1_Missense_Mutation_p.L370F|NRXN1_ENST00000342183.5_Missense_Mutation_p.L317F|NRXN1_ENST00000401669.2_Missense_Mutation_p.L1382F|NRXN1_ENST00000405472.3_Missense_Mutation_p.L1374F|NRXN1_ENST00000402717.3_Missense_Mutation_p.L1374F|NRXN1_ENST00000404971.1_Missense_Mutation_p.L1422F	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1352					adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GAGGCCACAAGGATGTCATCT	0.428													ENSG00000179915																																					0													65.0	59.0	61.0					2																	50170914		2202	4300	6502	SO:0001583	missense	0			-	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.4054C>T	2.37:g.50170914G>A	ENSP00000384311:p.Leu1352Phe		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.L1374F	ENST00000406316.2	37	c.4120	CCDS54360.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.431586|4.431586	0.83776|0.83776	.|.	.|.	ENSG00000179915|ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859|ENST00000378262	T;T;T;T;T;T;T;T|.	0.72942|.	0.82;2.02;0.02;-0.01;-0.7;-0.6;-0.3;-0.15|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.000000|.	0.45361|.	U|.	0.000369|.	T|T	0.72622|0.72622	0.3483|0.3483	M|M	0.72894|0.72894	2.215|2.215	0.41103|0.41103	D|D	0.985689|0.985689	P;P;D;D;D;D|.	0.69078|.	0.952;0.794;0.992;0.996;0.996;0.997|.	P;P;P;D;D;D|.	0.78314|.	0.644;0.637;0.866;0.921;0.934;0.991|.	T|T	0.72697|0.72697	-0.4215|-0.4215	10|5	0.52906|.	T|.	0.07|.	.|.	13.077|13.077	0.59093|0.59093	0.0732:0.0:0.9268:0.0|0.0732:0.0:0.9268:0.0	.|.	17;1422;317;1352;1374;17|.	B4DIT5;Q9ULB1-3;P58400;F8WB18;A7E294;Q5HYI0|.	.;.;NRX1B_HUMAN;.;.;.|.	F|L	317;271;370;1422;1352;1374;1382;1423;1374;1352|18	ENSP00000341184:L317F;ENSP00000385580:L370F;ENSP00000385142:L1422F;ENSP00000384311:L1352F;ENSP00000434015:L1374F;ENSP00000385017:L1382F;ENSP00000385434:L1374F;ENSP00000385681:L1352F|.	ENSP00000341184:L317F|.	L|P	-|-	1|2	0|0	NRXN1|NRXN1	50024418|50024418	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.830000|4.830000	0.62745|0.62745	2.696000|2.696000	0.92011|0.92011	0.655000|0.655000	0.94253|0.94253	CTT|CCT	-	NRXN1	-	NULL		0.428	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	0	0		46	46		0.00		G			50170914	-1	11		61		tier1	no_errors	ENST00000402717	ensembl	human	known	74_37	missense	15.28		SNP	1.000	A	11	61
PWP2	5822	genome.wustl.edu	37	21	45539347	45539347	+	Silent	SNP	G	G	A			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr21:45539347G>A	ENST00000291576.7	+	10	1258	c.1131G>A	c.(1129-1131)gtG>gtA	p.V377V		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	377					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		ACAGCATGGTGGCCCTGGCCT	0.667													ENSG00000241945																																					0													41.0	28.0	32.0					21																	45539347		2196	4292	6488	SO:0001819	synonymous_variant	0			-		CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"""WD repeat domain containing"""	9711	protein-coding gene	gene with protein product		601475	"""PWP2 (periodic tryptophan protein, yeast) homolog"""	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.1131G>A	21.37:g.45539347G>A			B2RAG8|Q96A77	Silent	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.V377	ENST00000291576.7	37	c.1131	CCDS33579.1	21																																																																																			-	PWP2	-	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.667	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PWP2	HGNC	protein_coding	OTTHUMT00000195736.3	0	0		81	81		0.00		G	NM_005049		45539347	+1	18		94		tier1	no_errors	ENST00000291576	ensembl	human	known	74_37	silent	16.07		SNP	0.836	A	18	94
ARHGAP21	57584	genome.wustl.edu	37	10	24885661	24885661	+	Intron	SNP	T	T	A			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr10:24885661T>A	ENST00000396432.2	-	17	3964				ARHGAP21_ENST00000493154.1_5'Flank|ARHGAP21_ENST00000320481.6_Intron	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21						establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TGGGCTGGTGTCTCCTACCCG	0.428													ENSG00000107863																																					0													109.0	106.0	107.0					10																	24885661		2203	4300	6503	SO:0001627	intron_variant	0			-	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.3477+7A>T	10.37:g.24885661T>A			Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology	p.D1152V	ENST00000396432.2	37	c.3455	CCDS7144.2	10	.	.	.	.	.	.	.	.	.	.	T	9.925	1.213196	0.22289	.	.	ENSG00000107863	ENST00000376410	T	0.45668	0.89	5.09	1.28	0.21552	.	.	.	.	.	T	0.42653	0.1212	.	.	.	0.29906	N	0.82396	.	.	.	.	.	.	T	0.46428	-0.9192	6	0.87932	D	0	.	7.3242	0.26545	0.0:0.1361:0.4039:0.4601	.	.	.	.	V	1152	ENSP00000365592:D1152V	ENSP00000365592:D1152V	D	-	2	0	ARHGAP21	24925667	0.957000	0.32711	0.498000	0.27564	0.896000	0.52359	1.141000	0.31528	0.101000	0.17610	0.383000	0.25322	GAC	-	ARHGAP21	-	NULL		0.428	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	HGNC	protein_coding	OTTHUMT00000047229.4	0	0		50	50		0.00		T	NM_020824		24885661	-1	20		77		tier1	no_errors	ENST00000376410	ensembl	human	known	74_37	missense	20.62		SNP	0.049	A	20	77
SOX7	83595	genome.wustl.edu	37	8	10584160	10584160	+	Silent	SNP	C	C	T	rs368097716		TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr8:10584160C>T	ENST00000304501.1	-	2	333	c.255G>A	c.(253-255)gcG>gcA	p.A85A	CTD-2135J3.3_ENST00000506149.2_RNA|SOX7_ENST00000554914.1_Silent_p.A137A|SOX7_ENST00000553390.1_Silent_p.A137A|CTD-2135J3.3_ENST00000519568.1_RNA	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	85					endoderm formation (GO:0001706)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|regulation of canonical Wnt signaling pathway (GO:0060828)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		ACAGCGTCAGCGCCTTCCACG	0.642													ENSG00000171056																																					0								C		0,4406		0,0,2203	38.0	40.0	39.0		255	-4.3	0.9	8		39	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	SOX7	NM_031439.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		85/389	10584160	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	0			-	AJ409320	CCDS5977.1	8p22	2013-01-25			ENSG00000171056	ENSG00000171056		"""SRY (sex determining region Y)-boxes"""	18196	protein-coding gene	gene with protein product		612202				11691915	Standard	NM_031439		Approved		uc003wtf.3	Q9BT81	OTTHUMG00000090585	ENST00000304501.1:c.255G>A	8.37:g.10584160C>T			B4DKV0|Q53YD0	Silent	SNP	pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_box_dom	p.A137	ENST00000304501.1	37	c.411	CCDS5977.1	8																																																																																			-	SOX7	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,pfscan_HMG_box_dom		0.642	SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX7	HGNC	protein_coding	OTTHUMT00000207131.1	0	0		28	28		0.00		C			10584160	-1	8		33		tier1	no_errors	ENST00000553390	ensembl	human	known	74_37	silent	19.51		SNP	0.721	T	8	33
PIK3CD	5293	genome.wustl.edu	37	1	9782110	9782114	+	Frame_Shift_Del	DEL	CAAGG	CAAGG	-			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	CAAGG	CAAGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr1:9782110_9782114delCAAGG	ENST00000377346.4	+	17	2328_2332	c.2133_2137delCAAGG	c.(2131-2139)accaaggagfs	p.KE712fs	PIK3CD_ENST00000361110.2_Frame_Shift_Del_p.KE736fs|PIK3CD_ENST00000536656.1_Frame_Shift_Del_p.KE736fs|PIK3CD_ENST00000543390.1_3'UTR	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	712					adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|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)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	AGCCCCAGACCAAGGAGCTGATGCA	0.624											OREG0013082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000171608																																					0																																										SO:0001589	frameshift_variant	0					CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.2133_2137delCAAGG	1.37:g.9782110_9782114delCAAGG	ENSP00000366563:p.Lys712fs	659	A6NCG0|G1FFP1|O15445|Q5SR49	Frame_Shift_Del	DEL	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,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.K736fs	ENST00000377346.4	37	c.2205_2209	CCDS104.1	1																																																																																				PIK3CD	-	superfamily_Kinase-like_dom		0.624	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CD	HGNC	protein_coding	OTTHUMT00000004235.1									CAAGG	NM_005026		9782114	+1					tier1	no_errors	ENST00000536656	ensembl	human	known	74_37	frame_shift_del			DEL	0.944:1.000:1.000:1.000:1.000	-		
RPL30	6156	genome.wustl.edu	37	8	99054503	99054504	+	Intron	INS	-	-	T	rs534352583|rs367741409	byFrequency	TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr8:99054503_99054504insT	ENST00000521291.1	-	3	445				RPL30_ENST00000396070.2_Intron|RPL30_ENST00000287038.3_Intron|KB-1208A12.3_ENST00000501016.2_RNA|RPL30_ENST00000523172.1_Intron|SNORA72_ENST00000384339.1_RNA|RPL30_ENST00000518164.1_Intron			P62888	RL30_HUMAN	ribosomal protein L30						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(2)|lung(4)|skin(1)	7	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.192)			TTTTTTGGCACTTTTTTTTTTC	0.312													ENSG00000245970																																					0																																										SO:0001627	intron_variant	0					CCDS34928.1	8q22	2013-05-09			ENSG00000156482	ENSG00000156482		"""L ribosomal proteins"""	10333	protein-coding gene	gene with protein product		180467				1577483	Standard	NM_000989		Approved	L30	uc003yif.3	P62888	OTTHUMG00000164796	ENST00000521291.1:c.298+368->A	8.37:g.99054513_99054513dupT			B2R591|P04645|Q502Z6	R	INS	-	NULL	ENST00000521291.1	37	NULL	CCDS34928.1	8																																																																																				KB-1208A12.3	-	-		0.312	RPL30-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SNORA72	Clone_based_vega_gene	protein_coding	OTTHUMT00000380450.1	0	0		19	19		0.00		-			99054504	+1	4		16		tier1	no_errors	ENST00000501016	ensembl	human	known	74_37	rna	20.00		INS	0.000:0.001	T	4	16
TTN	7273	genome.wustl.edu	37	2	179604055	179604055	+	Silent	SNP	C	C	A			TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chr2:179604055C>A	ENST00000591111.1	-	46	13178	c.12954G>T	c.(12952-12954)gtG>gtT	p.V4318V	TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Silent_p.V4397V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.V4464V|TTN_ENST00000460472.2_Silent_p.V4272V|TTN_ENST00000589042.1_Silent_p.V4635V|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12077	Ig-like 23.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATACCAATTCACCTCTTTAG	0.378													ENSG00000155657																																					0													138.0	123.0	128.0					2																	179604055		1897	4119	6016	SO:0001819	synonymous_variant	0			-	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.12954G>T	2.37:g.179604055C>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.V4464	ENST00000591111.1	37	c.13392		2																																																																																			-	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.378	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	0	0		35	35		0.00		C	NM_133378		179604055	-1	12		56		tier1	no_errors	ENST00000342175	ensembl	human	known	74_37	silent	17.65		SNP	1.000	A	12	56
MUM1L1	139221	genome.wustl.edu	37	X	105450550	105450550	+	Silent	SNP	C	C	T	rs367590084		TCGA-DX-A6YZ-01A-12D-A351-09	TCGA-DX-A6YZ-10B-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	212c9fc6-ae69-4115-8ca0-8915d905ee53	a4acbf9d-bca0-4e00-a97b-12d3e4cc48b7	g.chrX:105450550C>T	ENST00000357175.2	+	4	1774	c.1125C>T	c.(1123-1125)gaC>gaT	p.D375D	MUM1L1_ENST00000337685.2_Silent_p.D375D|MUM1L1_ENST00000372552.1_Silent_p.D375D	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	375						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATGAGGAAGACGAAGAACTTC	0.388													ENSG00000157502																																					0								C	,	0,3146		0,0,1288,570	41.0	35.0	37.0		1125,1125	-8.9	0.0	X		37	1,6406		0,1,2312,1781	no	coding-synonymous,coding-synonymous	MUM1L1	NM_001171020.1,NM_152423.4	,	0,1,3600,2351	TT,TC,CC,C		0.0156,0.0,0.0105	,	375/697,375/697	105450550	1,9552	1858	4094	5952	SO:0001819	synonymous_variant	0			-	AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.1125C>T	X.37:g.105450550C>T			D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Silent	SNP	superfamily_PyrdxlP-dep_Trfase	p.D375	ENST00000357175.2	37	c.1125	CCDS55469.1	X																																																																																			-	MUM1L1	-	NULL		0.388	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MUM1L1	HGNC	protein_coding	OTTHUMT00000057795.1	0	0		32	32		0.00		C	NM_152423		105450550	+1	19		17		tier1	no_errors	ENST00000337685	ensembl	human	known	74_37	silent	52.78		SNP	0.003	T	19	17
