#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ENSG_ID	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_Ens_Gene	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	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_Normal_Alt_Count	i_Normal_Ref_Count	i_Normal_VAF	i_ORegAnno_bin	i_PurityEst	i_RNA_Tum_Ref_count	i_RNA_Tum_VAF	i_RNA_Tum_Var_count	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Tier	i_Tumor_Alt_Count	i_Tumor_Ref_Count	i_Tumor_VAF	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_WGS_Norm_Ref_count	i_WGS_Norm_VAF	i_WGS_Norm_Var_count	i_WGS_Tum_Ref_count	i_WGS_Tum_VAF	i_WGS_Tum_Var_count	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_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_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_rs_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
RETSAT	54884	genome.wustl.edu	37	2	85570849	85570849	+	Missense_Mutation	SNP	C	C	T	rs4832168	byFrequency	TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr2:85570849C>T	ENST00000295802.4	-	10	1718	c.1606G>A	c.(1606-1608)Ggg>Agg	p.G536R	RETSAT_ENST00000263854.6_Missense_Mutation_p.R480Q|RETSAT_ENST00000457495.2_Missense_Mutation_p.G475R|RETSAT_ENST00000475624.2_5'UTR	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	536			G -> R (in dbSNP:rs4832168).		oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TGGTCAGCCCCGTAGCAGGCA	0.617																																																	0								ENSG00000042445						45.0	47.0	47.0					2																	85570849		2203	4300	6503	RETSAT	SO:0001583	missense	0			-	HGNC	AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.1606G>A	2.37:g.85570849C>T	ENSP00000295802:p.Gly536Arg	Somatic	0	95	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	191	8.57	A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Amino_oxidase,pfam_FAD_bind_dom,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_mOase_FAD-bd	p.G536R	ENST00000295802.4	37	c.1606	CCDS1972.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.42|19.42	3.824131|3.824131	0.71143|0.71143	.|.	.|.	ENSG00000042445|ENSG00000042445	ENST00000295802;ENST00000457495|ENST00000263854	T;T|.	0.57273|.	0.41;0.41|.	5.02|5.02	4.13|4.13	0.48395|0.48395	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81322|0.81322	0.4798|0.4798	M|M	0.92604|0.92604	3.325|3.325	0.43467|0.43467	P|P	0.004322999999999966|0.004322999999999966	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.999;0.998|.	D|D	0.88450|0.88450	0.3048|0.3048	9|5	0.87932|0.87932	D|D	0|0	-20.6594|-20.6594	13.4883|13.4883	0.61379|0.61379	0.0:0.8417:0.1583:0.0|0.0:0.8417:0.1583:0.0	rs4832168;rs13011440;rs57883711|rs4832168;rs13011440;rs57883711	475;475;536|.	G5E9N3;B4DKE1;Q6NUM9|.	.;.;RETST_HUMAN|.	R|Q	536;475|480	ENSP00000295802:G536R;ENSP00000405040:G475R|.	ENSP00000295802:G536R|ENSP00000263854:R480Q	G|R	-|-	1|2	0|0	RETSAT|RETSAT	85424360|85424360	0.934000|0.934000	0.31675|0.31675	0.996000|0.996000	0.52242|0.52242	0.483000|0.483000	0.33249|0.33249	3.819000|3.819000	0.55686|0.55686	1.226000|1.226000	0.43582|0.43582	-0.305000|-0.305000	0.09177|0.09177	GGG|CGG	-	NULL		0.617	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RETSAT	protein_coding	OTTHUMT00000252489.1	C	NM_017750	rs4832168		85570849	-1	no_errors	ENST00000295802	ensembl	human	known	74_37	missense	SNP	1.000	T
FYB	2533	genome.wustl.edu	37	5	39119670	39119670	+	Missense_Mutation	SNP	T	T	G			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr5:39119670T>G	ENST00000351578.6	-	14	2257	c.2067A>C	c.(2065-2067)gaA>gaC	p.E689D	FYB_ENST00000512982.1_Missense_Mutation_p.E735D|FYB_ENST00000540520.1_Missense_Mutation_p.E745D|FYB_ENST00000515010.1_Missense_Mutation_p.E689D|FYB_ENST00000505428.1_Missense_Mutation_p.E735D	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	689					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TTTCTTCTTTTTCCTGCTTTT	0.294																																																	0								ENSG00000082074						58.0	41.0	46.0					5																	39119670		1771	4021	5792	FYB	SO:0001583	missense	0			-	HGNC	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.2067A>C	5.37:g.39119670T>G	ENSP00000316460:p.Glu689Asp	Somatic	0	49	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	48	40.00	A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain	p.E745D	ENST00000351578.6	37	c.2235	CCDS47200.1	5	.	.	.	.	.	.	.	.	.	.	T	19.32	3.804116	0.70682	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	T;T;T;T;T	0.29142	1.59;1.59;1.58;1.58;1.59	4.91	3.75	0.43078	Src homology-3 domain (1);	0.365246	0.33419	N	0.004928	T	0.54631	0.1870	M	0.85859	2.78	0.39685	D	0.970968	D;D	0.69078	0.997;0.997	D;D	0.72625	0.978;0.978	T	0.58896	-0.7555	10	0.66056	D	0.02	-7.7507	8.2145	0.31503	0.0:0.0925:0.0:0.9075	.	745;689	B4DLN2;O15117	.;FYB_HUMAN	D	689;689;735;735;745;735	ENSP00000316460:E689D;ENSP00000426346:E689D;ENSP00000425845:E735D;ENSP00000427114:E735D;ENSP00000442840:E745D	ENSP00000316460:E689D	E	-	3	2	FYB	39155427	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.771000	0.38542	0.844000	0.35094	0.477000	0.44152	GAA	-	superfamily_SH3_domain		0.294	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FYB	protein_coding	OTTHUMT00000367098.1	T	NM_001465	-		39119670	-1	no_errors	ENST00000540520	ensembl	human	known	74_37	missense	SNP	1.000	G
RYR2	6262	genome.wustl.edu	37	1	237863631	237863631	+	Silent	SNP	G	G	A			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr1:237863631G>A	ENST00000366574.2	+	65	9548	c.9231G>A	c.(9229-9231)caG>caA	p.Q3077Q	RYR2_ENST00000360064.6_Silent_p.Q3075Q|RYR2_ENST00000542537.1_Silent_p.Q3061Q|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3077					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACCTCAAGCAGGGCCAGTTCA	0.493																																																	0								ENSG00000198626						46.0	45.0	45.0					1																	237863631		1920	4134	6054	RYR2	SO:0001819	synonymous_variant	0			-	HGNC	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.9231G>A	1.37:g.237863631G>A		Somatic	0	50	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	69	130	34.67	Q15411|Q546N8|Q5T3P2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.Q3075	ENST00000366574.2	37	c.9225	CCDS55691.1	1																																																																																			-	NULL		0.493	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	protein_coding	OTTHUMT00000095402.2	G	NM_001035	-		237863631	+1	no_errors	ENST00000360064	ensembl	human	known	74_37	silent	SNP	1.000	A
CFAP46	54777	genome.wustl.edu	37	10	134755529	134755529	+	Silent	SNP	G	G	A			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr10:134755529G>A	ENST00000368586.5	-	2	229	c.129C>T	c.(127-129)agC>agT	p.S43S	RP13-137A17.4_ENST00000443633.1_lincRNA|TTC40_ENST00000368582.2_Silent_p.S43S|TTC40_ENST00000368585.3_Silent_p.S43S	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CTGGGCTGAAGCTCTCTGAGG	0.562																																																	0								ENSG00000171811						122.0	119.0	120.0					10																	134755529		692	1591	2283	TTC40	SO:0001819	synonymous_variant	0			-	HGNC																												ENST00000368586.5:c.129C>T	10.37:g.134755529G>A		Somatic	0	70	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	15	75.00		Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.S43	ENST00000368586.5	37	c.129	CCDS58101.1	10																																																																																			-	NULL		0.562	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TTC40	protein_coding	OTTHUMT00000051095.3	G		-		134755529	-1	no_errors	ENST00000368582	ensembl	human	known	74_37	silent	SNP	1.000	A
TFDP3	51270	genome.wustl.edu	37	X	132352121	132352121	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chrX:132352121T>A	ENST00000310125.4	-	1	255	c.167A>T	c.(166-168)cAa>cTa	p.Q56L		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	56					cellular response to DNA damage stimulus (GO:0006974)|G1/S transition of mitotic cell cycle (GO:0000082)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					AATTACCACTTGCTGGTCAAT	0.562																																																	0								ENSG00000183434						97.0	78.0	85.0					X																	132352121		2203	4300	6503	TFDP3	SO:0001583	missense	0			-	HGNC	AF219119	CCDS14636.2	Xq26.2	2009-03-25			ENSG00000183434	ENSG00000183434			24603	protein-coding gene	gene with protein product	"""E2F-like protein"", ""cancer/testis antigen 30"""	300772				12097419	Standard	NM_016521		Approved	HCA661, E2F-like, CT30	uc004exb.1	Q5H9I0	OTTHUMG00000022433	ENST00000310125.4:c.167A>T	X.37:g.132352121T>A	ENSP00000385461:p.Gln56Leu	Somatic	0	135	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	102	156	39.53	Q6DK49|Q9NZ54	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP	p.Q56L	ENST00000310125.4	37	c.167	CCDS14636.2	X	.	.	.	.	.	.	.	.	.	.	T	10.80	1.451870	0.26074	.	.	ENSG00000183434	ENST00000310125	T	0.25085	1.82	0.235	0.235	0.15431	.	.	.	.	.	T	0.19805	0.0476	L	0.50333	1.59	0.40965	D	0.984658	B	0.14805	0.011	B	0.15484	0.013	T	0.08186	-1.0734	9	0.56958	D	0.05	.	4.7703	0.13153	0.0:3.0E-4:0.0:0.9997	.	56	Q5H9I0	TFDP3_HUMAN	L	56	ENSP00000385461:Q56L	ENSP00000385461:Q56L	Q	-	2	0	TFDP3	132179787	1.000000	0.71417	0.200000	0.23457	0.201000	0.24016	2.289000	0.43523	0.245000	0.21373	0.242000	0.17961	CAA	-	pirsf_Transcrpt_fac_DP		0.562	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFDP3	protein_coding	OTTHUMT00000058337.1	T	NM_016521	-		132352121	-1	no_errors	ENST00000310125	ensembl	human	known	74_37	missense	SNP	1.000	A
FCGR2B	2213	genome.wustl.edu	37	1	161641251	161641251	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr1:161641251C>T	ENST00000358671.5	+	3	284	c.203C>T	c.(202-204)aCt>aTt	p.T68I	FCGR2B_ENST00000367960.5_Missense_Mutation_p.T61I|FCGR2B_ENST00000403078.3_Missense_Mutation_p.T68I|RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000428605.2_Missense_Mutation_p.T68I|FCGR2B_ENST00000367961.4_Missense_Mutation_p.T61I|FCGR2B_ENST00000236937.9_Missense_Mutation_p.T68I|FCGR2B_ENST00000367962.4_Missense_Mutation_p.T68I	NM_001002275.2|NM_004001.4	NP_001002275.1|NP_003992.3	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	68	Ig-like C2-type 1.				immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)						all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Antithymocyte globulin(DB00098)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GACTCTGTGACTCTGACATGC	0.587			T	?	ALL																																			Dom	yes		1	1q23	2213	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""		L	0								ENSG00000072694						104.0	105.0	105.0					1																	161641251		2203	4300	6503	FCGR2B	SO:0001583	missense	0			-	HGNC	BC031992	CCDS30924.1, CCDS30925.1, CCDS53414.1	1q23	2013-01-11	2005-02-02		ENSG00000072694	ENSG00000072694		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3618	protein-coding gene	gene with protein product		604590	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""	FCG2, FCGR2		2139735	Standard	NM_004001		Approved	CD32, CD32B	uc001gaz.2	P31994	OTTHUMG00000034470	ENST00000358671.5:c.203C>T	1.37:g.161641251C>T	ENSP00000351497:p.Thr68Ile	Somatic	0	200	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	59	503	10.50	A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T68I	ENST00000358671.5	37	c.203	CCDS30924.1	1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.980603	0.34942	.	.	ENSG00000072694	ENST00000367962;ENST00000367960;ENST00000403078;ENST00000428605;ENST00000236937;ENST00000367961;ENST00000358671;ENST00000452001	T;T;T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32;2.32;2.32	4.53	3.62	0.41486	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.104565	0.42548	D	0.000690	T	0.31734	0.0806	M	0.87617	2.895	0.39186	D	0.962868	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;0.999	D;D;D;D;D;D	0.97110	1.0;0.998;1.0;1.0;0.989;0.981	T	0.19877	-1.0292	10	0.59425	D	0.04	.	8.5885	0.33672	0.0:0.8909:0.0:0.1091	.	61;68;68;68;68;68	P31994-3;P31995-4;P31994-2;P31995-2;P31994;P31995-3	.;.;.;.;FCG2B_HUMAN;.	I	68;61;68;68;68;61;68;67	ENSP00000356939:T68I;ENSP00000356937:T61I;ENSP00000386038:T68I;ENSP00000404329:T68I;ENSP00000236937:T68I;ENSP00000356938:T61I;ENSP00000351497:T68I	ENSP00000236937:T68I	T	+	2	0	FCGR2B	159907875	0.759000	0.28416	0.749000	0.31150	0.059000	0.15707	1.001000	0.29783	0.896000	0.36366	0.462000	0.41574	ACT	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.587	FCGR2B-002	KNOWN	basic|CCDS	protein_coding	FCGR2B	protein_coding	OTTHUMT00000083337.4	C	NM_004001	-		161641251	+1	no_errors	ENST00000358671	ensembl	human	known	74_37	missense	SNP	0.932	T
ANKEF1	63926	genome.wustl.edu	37	20	10030397	10030397	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr20:10030397G>T	ENST00000378380.3	+	6	1509	c.1180G>T	c.(1180-1182)Gaa>Taa	p.E394*	SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Nonsense_Mutation_p.E394*|SNAP25-AS1_ENST00000421143.2_RNA	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	394							calcium ion binding (GO:0005509)										CAATATTAATGAATTCTTTAA	0.428																																																	0								ENSG00000132623						47.0	57.0	54.0					20																	10030397		2194	4297	6491	ANKEF1	SO:0001587	stop_gained	0			-	HGNC	AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"""EF-hand domain containing"", ""Ankyrin repeat domain containing"""	15803	protein-coding gene	gene with protein product			"""ankyrin repeat domain 5"""	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.1180G>T	20.37:g.10030397G>T	ENSP00000367631:p.Glu394*	Somatic	0	37	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	52	39.53	B3KUQ0|Q9H6Y9	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EF_hand_dom,prints_Ankyrin_rpt	p.E394*	ENST00000378380.3	37	c.1180	CCDS13108.1	20	.	.	.	.	.	.	.	.	.	.	G	38	7.137402	0.98088	.	.	ENSG00000132623	ENST00000378392;ENST00000378380	.	.	.	5.86	5.86	0.93980	.	0.437279	0.30168	N	0.010256	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-4.4872	20.5632	0.99335	0.0:0.0:1.0:0.0	.	.	.	.	X	394	.	ENSP00000367631:E394X	E	+	1	0	ANKRD5	9978397	1.000000	0.71417	0.560000	0.28344	0.340000	0.28889	8.794000	0.91867	2.937000	0.99478	0.650000	0.86243	GAA	-	pfscan_Ankyrin_rpt-contain_dom		0.428	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ANKEF1	protein_coding	OTTHUMT00000077968.2	G	NM_022096	-		10030397	+1	no_errors	ENST00000378380	ensembl	human	known	74_37	nonsense	SNP	0.995	T
KIAA2018	205717	genome.wustl.edu	37	3	113374951	113374951	+	Missense_Mutation	SNP	G	G	C	rs373048207		TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr3:113374951G>C	ENST00000478658.1	-	5	5595	c.5578C>G	c.(5578-5580)Cca>Gca	p.P1860A	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.P1860A			Q68DE3	K2018_HUMAN	KIAA2018	1860						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TCATGAGTTGGGGGACAATTA	0.443																																																	0								ENSG00000176542		ALA/PRO	0,3808		0,0,1904	90.0	86.0	87.0		5578	4.1	0.6	3		87	1,8267		0,1,4133	no	missense	KIAA2018	NM_001009899.2	27	0,1,6037	CC,CG,GG		0.0121,0.0,0.0083	possibly-damaging	1860/2246	113374951	1,12075	1904	4134	6038	KIAA2018	SO:0001583	missense	0			-	HGNC	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.5578C>G	3.37:g.113374951G>C	ENSP00000420721:p.Pro1860Ala	Somatic	0	69	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	69	38.39	Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.P1860A	ENST00000478658.1	37	c.5578	CCDS43133.1	3	.	.	.	.	.	.	.	.	.	.	g	7.083	0.570558	0.13560	0.0	1.21E-4	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.18502	2.21;2.21	5.9	4.12	0.48240	.	0.120605	0.56097	D	0.000028	T	0.09555	0.0235	N	0.17082	0.46	0.39972	D	0.974803	P	0.34864	0.473	B	0.31442	0.13	T	0.22765	-1.0207	10	0.44086	T	0.13	-7.1782	8.0193	0.30400	0.1382:0.1313:0.7306:0.0	.	1860	Q68DE3	K2018_HUMAN	A	1860	ENSP00000320794:P1860A;ENSP00000420721:P1860A	ENSP00000320794:P1860A	P	-	1	0	KIAA2018	114857641	0.999000	0.42202	0.614000	0.29051	0.941000	0.58515	3.091000	0.50199	0.844000	0.35094	-0.141000	0.14075	CCA	-	NULL		0.443	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	protein_coding	OTTHUMT00000354591.1	G	NM_001009899	-		113374951	-1	no_errors	ENST00000316407	ensembl	human	known	74_37	missense	SNP	0.940	C
CYP2E1	1571	genome.wustl.edu	37	10	135350749	135350749	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr10:135350749C>A	ENST00000463117.2	+	9	1422	c.1150C>A	c.(1150-1152)Ccc>Acc	p.P384T	CYP2E1_ENST00000252945.3_Missense_Mutation_p.P384T|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	384					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.P384S(1)		NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	ATACCTCATCCCCAAGGTTAA	0.562									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																																								1	Substitution - Missense(1)	prostate(1)						ENSG00000130649						163.0	110.0	128.0					10																	135350749		2203	4300	6503	CYP2E1	SO:0001583	missense	0	Familial Cancer Database	incl.: Familial Head and Neck Cancer	-	HGNC	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"""Cytochrome P450s"""	2631	protein-coding gene	gene with protein product		124040	"""cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"""	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.1150C>A	10.37:g.135350749C>A	ENSP00000440689:p.Pro384Thr	Somatic	0	40	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	50	15	76.92	Q5VZD5|Q6NWT9|Q9UK47	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2E-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.P384T	ENST00000463117.2	37	c.1150	CCDS7686.1	10	.	.	.	.	.	.	.	.	.	.	C	16.75	3.210564	0.58343	.	.	ENSG00000130649	ENST00000463117;ENST00000252945;ENST00000421586;ENST00000418356	T;T;T;D	0.86956	4.32;4.32;1.94;-2.19	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	D	0.95175	0.8436	H	0.94306	3.52	0.46874	D	0.99923	D;D	0.76494	0.999;0.993	D;D	0.76575	0.988;0.91	D	0.96142	0.9101	10	0.87932	D	0	.	15.8859	0.79247	0.0:1.0:0.0:0.0	.	280;384	Q59EW1;P05181	.;CP2E1_HUMAN	T	384;384;297;247	ENSP00000440689:P384T;ENSP00000252945:P384T;ENSP00000412754:P297T;ENSP00000397299:P247T	ENSP00000252945:P384T	P	+	1	0	CYP2E1	135200739	1.000000	0.71417	1.000000	0.80357	0.196000	0.23810	6.912000	0.75753	2.689000	0.91719	0.650000	0.86243	CCC	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_B		0.562	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2E1	protein_coding	OTTHUMT00000051161.2	C	NM_000773	-		135350749	+1	no_errors	ENST00000252945	ensembl	human	known	74_37	missense	SNP	1.000	A
SRL	6345	genome.wustl.edu	37	16	4257305	4257305	+	Intron	SNP	C	C	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr16:4257305C>T	ENST00000399609.3	-	2	74				SRL_ENST00000537996.1_Intron	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin							sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						GTGTCCCCTGCCTTAACGCTT	0.607																																																	0								ENSG00000185739																																			SRL	SO:0001627	intron_variant	0			-	HGNC	AK056588	CCDS42113.1	16p13.3	2008-02-05				ENSG00000185739			11295	protein-coding gene	gene with protein product		604992				2762314	Standard	NM_001098814		Approved		uc002cvz.4	Q86TD4		ENST00000399609.3:c.62-2670G>A	16.37:g.4257305C>T		Somatic	0	27	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	41	50.00		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.A288T	ENST00000399609.3	37	c.862	CCDS42113.1	16	.	.	.	.	.	.	.	.	.	.	c	16.03	3.006397	0.54361	.	.	ENSG00000185739	ENST00000330063	.	.	.	5.38	3.28	0.37604	.	.	.	.	.	T	0.22475	0.0542	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25363	-1.0134	5	0.16896	T	0.51	2.0E-4	6.448	0.21887	0.0:0.7134:0.1787:0.1078	.	.	.	.	T	288	.	ENSP00000333285:A288T	A	-	1	0	SRL	4197306	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.542000	0.06091	0.522000	0.28464	0.639000	0.83563	GCA	-	NULL		0.607	SRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRL	protein_coding	OTTHUMT00000438087.1	C	XM_064152	-		4257305	-1	no_errors	ENST00000572111	ensembl	human	known	74_37	missense	SNP	0.000	T
CXCR2P1	3580	genome.wustl.edu	37	2	218924727	218924727	+	RNA	SNP	T	T	G			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr2:218924727T>G	ENST00000439871.1	-	0	1653					NR_002712.1				chemokine (C-X-C motif) receptor 2 pseudogene 1																		atgattttctttcttctgaca	0.443																																																	0								ENSG00000229754																																			CXCR2P1			0			-	HGNC	M98335		2q35	2012-05-02	2010-04-14	2010-04-14	ENSG00000229754	ENSG00000229754			6028	pseudogene	pseudogene			"""interleukin 8 receptor, beta pseudogene"", ""chemokine (C-X-C motif) receptor 2 pseudogene"""	IL8RBP, CXCR2P		1427896, 1303245	Standard	NR_002712		Approved		uc002vgx.3		OTTHUMG00000155244		2.37:g.218924727T>G		Somatic	0	14	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	16	30.43		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000439871.1	37	NULL		2																																																																																			-	-		0.443	CXCR2P1-002	KNOWN	basic	processed_transcript	CXCR2P1	pseudogene	OTTHUMT00000338985.1	T	NR_002712	-		218924727	-1	no_errors	ENST00000439871	ensembl	human	known	74_37	rna	SNP	0.000	G
C2orf54	79919	genome.wustl.edu	37	2	241835404	241835404	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr2:241835404G>T	ENST00000388934.4	-	1	169	c.11C>A	c.(10-12)cCt>cAt	p.P4H		NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	4										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		GGGGAGAGCAGGGGCAGGCAT	0.697																																																	0								ENSG00000172478						4.0	5.0	5.0					2																	241835404		1968	4039	6007	C2orf54	SO:0001583	missense	0			-	HGNC	AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.11C>A	2.37:g.241835404G>T	ENSP00000373586:p.Pro4His	Somatic	0	75	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	119	8.46	B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.P4H	ENST00000388934.4	37	c.11	CCDS42839.1	2	.	.	.	.	.	.	.	.	.	.	G	11.73	1.726840	0.30593	.	.	ENSG00000172478	ENST00000388934;ENST00000414499	T	0.32515	1.45	1.38	1.38	0.22167	.	0.363539	0.19924	U	0.103006	T	0.15305	0.0369	L	0.27053	0.805	0.09310	N	1	D	0.56746	0.977	B	0.38803	0.282	T	0.14839	-1.0458	10	0.29301	T	0.29	9.026	6.1743	0.20434	0.0:0.0:1.0:0.0	.	4	Q08AI8	CB054_HUMAN	H	4	ENSP00000373586:P4H	ENSP00000373586:P4H	P	-	2	0	C2orf54	241484077	0.013000	0.17824	0.010000	0.14722	0.035000	0.12851	1.195000	0.32186	1.080000	0.41073	0.561000	0.74099	CCT	-	NULL		0.697	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C2orf54	protein_coding	OTTHUMT00000324353.1	G	NM_024861, NM_001085437	-		241835404	-1	no_errors	ENST00000388934	ensembl	human	known	74_37	missense	SNP	0.006	T
WASH6P	653440	genome.wustl.edu	37	X	155252987	155252988	+	RNA	INS	-	-	CAGCACCAC			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chrX:155252987_155252988insCAGCACCAC	ENST00000461007.1	+	0	1903_1904				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										TGGGGTactaacaccaccccca	0.658														2815	0.562101	0.5726	0.585	5008	,	,		4013	0.4742		0.6402	False		,,,				2504	0.5419																0								ENSG00000270726																																			AJ271736.10			0				Clone_based_vega_gene	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155252987_155252988insCAGCACCAC		Somatic	NA	NA	NA		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A6NGF1|Q8N305	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000461007.1	37	NULL		X																																																																																			-	-		0.658	WASH6P-016	KNOWN	basic	processed_transcript	ENSG00000270726	pseudogene	OTTHUMT00000058840.1	-	NG_008380			155252988	+1	no_errors	ENST00000285718	ensembl	human	known	74_37	rna	INS	0.959:1.000	CAGCACCAC
PRKCD	5580	genome.wustl.edu	37	3	53218939	53218939	+	Silent	SNP	C	C	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr3:53218939C>T	ENST00000394729.2	+	9	1165	c.837C>T	c.(835-837)ctC>ctT	p.L279L	PRKCD_ENST00000330452.3_Silent_p.L279L	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	279					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	TGGCCAACCTCTGCGGCATCA	0.612																																																	0								ENSG00000163932						84.0	80.0	81.0					3																	53218939		2203	4300	6503	PRKCD	SO:0001819	synonymous_variant	0			-	HGNC		CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.837C>T	3.37:g.53218939C>T		Somatic	0	34	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	40	48.05	B0KZ81|B2R834|Q15144|Q86XJ6	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.L279	ENST00000394729.2	37	c.837	CCDS2870.1	3																																																																																			-	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Prot_kin_PKC_delta,prints_DAG/PE-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd		0.612	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCD	protein_coding	OTTHUMT00000257818.1	C		-		53218939	+1	no_errors	ENST00000330452	ensembl	human	known	74_37	silent	SNP	1.000	T
TFPI	7035	genome.wustl.edu	37	2	188349667	188349667	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr2:188349667C>T	ENST00000233156.3	-	5	700	c.406G>A	c.(406-408)Ggt>Agt	p.G136S	TFPI_ENST00000392365.1_Missense_Mutation_p.G136S|TFPI_ENST00000409676.1_Missense_Mutation_p.G136S|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000339091.4_Missense_Mutation_p.G136S|AC007319.1_ENST00000453517.1_RNA	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	136	BPTI/Kunitz inhibitor 2. {ECO:0000255|PROSITE-ProRule:PRU00031}.	Reactive bond.			blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)|Dalteparin(DB06779)	GTAATATAACCTCGACATATT	0.328																																																	0								ENSG00000003436						76.0	76.0	76.0					2																	188349667		2202	4296	6498	TFPI	SO:0001583	missense	0			-	HGNC		CCDS2294.1, CCDS33349.1	2q32	2008-06-02			ENSG00000003436	ENSG00000003436			11760	protein-coding gene	gene with protein product	"""extrinsic pathway inhibitor"""	152310		LACI		1993173	Standard	XM_005246818		Approved	EPI, TFI, TFPI1	uc002upy.3	P10646	OTTHUMG00000132634	ENST00000233156.3:c.406G>A	2.37:g.188349667C>T	ENSP00000233156:p.Gly136Ser	Somatic	0	71	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	72	75	48.98	O95103|Q53TS4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	p.G136S	ENST00000233156.3	37	c.406	CCDS2294.1	2	.	.	.	.	.	.	.	.	.	.	C	27.5	4.841281	0.91197	.	.	ENSG00000003436	ENST00000392365;ENST00000233156;ENST00000426055;ENST00000435414;ENST00000409676;ENST00000339091	T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36	5.62	5.62	0.85841	Proteinase inhibitor I2, Kunitz metazoa (5);	0.217986	0.47852	D	0.000213	T	0.69628	0.3132	M	0.62154	1.92	0.80722	D	1	D;D	0.89917	1.0;0.977	D;D	0.70716	0.97;0.951	T	0.69224	-0.5201	10	0.49607	T	0.09	.	16.7965	0.85603	0.0:1.0:0.0:0.0	.	136;136	P10646-2;P10646	.;TFPI1_HUMAN	S	136;136;136;123;136;136	ENSP00000376172:G136S;ENSP00000233156:G136S;ENSP00000397248:G136S;ENSP00000409177:G123S;ENSP00000386344:G136S;ENSP00000342306:G136S	ENSP00000233156:G136S	G	-	1	0	TFPI	188057912	0.594000	0.26849	0.991000	0.47740	0.974000	0.67602	4.110000	0.57831	2.638000	0.89438	0.585000	0.79938	GGT	-	pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m		0.328	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TFPI	protein_coding	OTTHUMT00000255881.1	C	NM_006287	-		188349667	-1	no_errors	ENST00000233156	ensembl	human	known	74_37	missense	SNP	1.000	T
MBL1P	8512	genome.wustl.edu	37	10	81680246	81680246	+	RNA	SNP	A	A	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr10:81680246A>T	ENST00000480805.1	+	0	313					NR_002724.2				mannose-binding lectin (protein A) 1, pseudogene																		GATAGACCCAAGGGGGAAAAG	0.557																																																	0								ENSG00000242600																																			MBL1P			0			-	HGNC	AF019382		10q22.3	2012-11-02	2009-12-02	2009-12-02	ENSG00000242600	ENSG00000242600		"""Collectins"""	6921	pseudogene	pseudogene			"""mannose-binding lectin (protein A) 1, pseudogene 1"""	MBL1P1		9501312	Standard	NR_002724		Approved	COLEC3P	uc001kbg.1		OTTHUMG00000018595		10.37:g.81680246A>T		Somatic	0	64	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	59	12	81.94		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000480805.1	37	NULL		10																																																																																			-	-		0.557	MBL1P-001	KNOWN	basic	processed_transcript	MBL1P	pseudogene	OTTHUMT00000049017.1	A		-		81680246	+1	no_errors	ENST00000480805	ensembl	human	known	74_37	rna	SNP	0.997	T
GOLGA6L6	727832	genome.wustl.edu	37	15	20739541	20739541	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr15:20739541C>A	ENST00000427390.2	-	8	2299	c.2209G>T	c.(2209-2211)Gaa>Taa	p.E737*		NM_001145004.1	NP_001138476.1	A8MZA4	GG6L6_HUMAN	golgin A6 family-like 6	737	Gln-rich.|Glu-rich.									NS(3)|endometrium(4)|kidney(1)|skin(3)	11						AGCCTCACTTCCTGCTCCCAC	0.587																																																	0								ENSG00000215405						1.0	1.0	1.0					15																	20739541		190	502	692	GOLGA6L6	SO:0001587	stop_gained	0			-	HGNC	AK093450	CCDS45184.1	15q11.2	2014-02-12	2010-02-12		ENSG00000215405	ENSG00000277322			37225	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 6"""				Standard	NM_001145004		Approved	FLJ36131	uc001ytk.2	A8MZA4	OTTHUMG00000171663	ENST00000427390.2:c.2209G>T	15.37:g.20739541C>A	ENSP00000398615:p.Glu737*	Somatic	0	27	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	35	40.68	D3YTC0	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin	p.E737*	ENST00000427390.2	37	c.2209	CCDS45184.1	15	.	.	.	.	.	.	.	.	.	.	C	18.14	3.556765	0.65425	.	.	ENSG00000215405	ENST00000427390	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43360	D	0.995432	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	5.9503	0.19242	0.0:0.9994:0.0:6.0E-4	.	.	.	.	X	737	.	ENSP00000398615:E737X	E	-	1	0	GOLGA6L6	18999555	0.000000	0.05858	0.031000	0.17742	0.031000	0.12232	-0.156000	0.10100	0.159000	0.19401	0.162000	0.16502	GAA	-	NULL		0.587	GOLGA6L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6L6	protein_coding	OTTHUMT00000414660.3	C	NM_001145004	-		20739541	-1	no_errors	ENST00000427390	ensembl	human	known	74_37	nonsense	SNP	0.002	A
AEBP1	165	genome.wustl.edu	37	7	44153323	44153323	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr7:44153323C>A	ENST00000223357.3	+	21	3245	c.2940C>A	c.(2938-2940)ttC>ttA	p.F980L	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_Missense_Mutation_p.F555L	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	980	Interaction with PTEN. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						AGTGCAACTTCATCCTGGCTC	0.622																																																	0								ENSG00000106624						121.0	112.0	115.0					7																	44153323		2203	4300	6503	AEBP1	SO:0001583	missense	0			-	HGNC	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.2940C>A	7.37:g.44153323C>A	ENSP00000223357:p.Phe980Leu	Somatic	0	53	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	52	52	50.00	Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.F980L	ENST00000223357.3	37	c.2940	CCDS5476.1	7	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772788	0.69992	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	T;T	0.15139	2.45;2.45	4.98	2.07	0.26955	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.000000	0.85682	D	0.000000	T	0.41903	0.1179	M	0.86805	2.84	0.49915	D	0.999839	D;D	0.76494	0.99;0.999	D;D	0.91635	0.979;0.999	T	0.23655	-1.0182	10	0.72032	D	0.01	-28.2859	8.0838	0.30760	0.0:0.6633:0.0:0.3367	.	555;980	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	L	980;555	ENSP00000223357:F980L;ENSP00000398878:F555L	ENSP00000223357:F980L	F	+	3	2	AEBP1	44119848	0.083000	0.21467	0.867000	0.34043	0.727000	0.41649	0.585000	0.23879	0.216000	0.20781	-0.259000	0.10710	TTC	-	superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14		0.622	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AEBP1	protein_coding	OTTHUMT00000250993.2	C	NM_001129	-		44153323	+1	no_errors	ENST00000223357	ensembl	human	known	74_37	missense	SNP	0.997	A
C20orf194	25943	genome.wustl.edu	37	20	3276587	3276587	+	Intron	SNP	C	C	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr20:3276587C>T	ENST00000252032.9	-	23	2086				C20orf194_ENST00000453730.2_Intron|C20orf194_ENST00000498079.1_5'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194											NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TCCCCTGTCTCTGTGATGTTG	0.463																																																	0								ENSG00000088854																																			C20orf194	SO:0001627	intron_variant	0			-	HGNC	AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.2018+920G>A	20.37:g.3276587C>T		Somatic	0	12	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	15	44.44	Q66K86|Q6P2R9|Q9UFX9	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000252032.9	37	NULL	CCDS42851.1	20																																																																																			-	-		0.463	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf194	protein_coding	OTTHUMT00000077734.1	C	NM_001009984	-		3276587	-1	no_errors	ENST00000498079	ensembl	human	known	74_37	rna	SNP	0.016	T
DUSP19	142679	genome.wustl.edu	37	2	183948141	183948142	+	Intron	INS	-	-	T	rs533797314	byFrequency	TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr2:183948141_183948142insT	ENST00000354221.4	+	2	401				DUSP19_ENST00000469344.1_Intron|AC064871.3_ENST00000444562.1_RNA|DUSP19_ENST00000342619.6_Intron	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19						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 protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase activity (GO:0045860)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	JUN kinase phosphatase activity (GO:0008579)|MAP-kinase scaffold activity (GO:0005078)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase activator activity (GO:0030295)|protein kinase inhibitor activity (GO:0004860)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/threonine phosphatase activity (GO:0008330)			breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						AGTTGTTGGTCTTTTTTTTTTA	0.322																																																	0								ENSG00000224643																																			AC064871.3	SO:0001627	intron_variant	0				Clone_based_vega_gene	AB038770	CCDS2289.1, CCDS46469.1	2q32.1	2011-06-09			ENSG00000162999	ENSG00000162999		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	18894	protein-coding gene	gene with protein product		611437					Standard	NM_080876		Approved	SKRP1, DUSP17	uc002upd.3	Q8WTR2	OTTHUMG00000132622	ENST00000354221.4:c.227-94->T	2.37:g.183948151_183948151dupT		Somatic	0	31	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	49	9.26	B2RA79|Q547H4|Q8WYN4	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000354221.4	37	NULL	CCDS2289.1	2																																																																																			-	-		0.322	DUSP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000224643	protein_coding	OTTHUMT00000255866.1	-				183948142	-1	no_errors	ENST00000444562	ensembl	human	known	74_37	rna	INS	0.000:0.000	T
TNF	7124	genome.wustl.edu	37	6	31543603	31543603	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr6:31543603C>T	ENST00000449264.2	+	1	260	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W		NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN	tumor necrosis factor	29					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nicotine (GO:0071316)|cellular response to organic cyclic compound (GO:0071407)|chronic inflammatory response to antigenic stimulus (GO:0002439)|defense response to Gram-positive bacterium (GO:0050830)|embryonic digestive tract development (GO:0048566)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glucose metabolic process (GO:0006006)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JNK cascade (GO:0007254)|leukocyte tethering or rolling (GO:0050901)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|necroptotic signaling pathway (GO:0097527)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of branching involved in lung morphogenesis (GO:0061048)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of glucose import (GO:0046325)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of L-glutamate transport (GO:0002037)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid storage (GO:0010888)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|organ morphogenesis (GO:0009887)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle development (GO:0051798)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of mononuclear cell migration (GO:0071677)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of podosome assembly (GO:0071803)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein transport (GO:0051222)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translational initiation by iron (GO:0045994)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|receptor biosynthetic process (GO:0032800)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of immunoglobulin secretion (GO:0051023)|regulation of insulin secretion (GO:0050796)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to salt stress (GO:0009651)|response to virus (GO:0009615)|sequestering of triglyceride (GO:0030730)|skeletal muscle contraction (GO:0003009)|transformed cell apoptotic process (GO:0006927)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	cytokine activity (GO:0005125)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|transcription regulatory region DNA binding (GO:0044212)|tumor necrosis factor receptor binding (GO:0005164)			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Amrinone(DB01427)|Certolizumab pegol(DB08904)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Epinephrine(DB00668)|Etanercept(DB00005)|Glucosamine(DB01296)|golimumab(DB06674)|Infliximab(DB00065)|Pomalidomide(DB08910)|Pranlukast(DB01411)|Pseudoephedrine(DB00852)|Thalidomide(DB01041)	GGGCTCCAGGCGGTGCTTGTT	0.637									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																																								0								ENSG00000232810						74.0	75.0	75.0					6																	31543603		2203	4300	6503	TNF	SO:0001583	missense	0	Familial Cancer Database	incl.: Familial Head and Neck Cancer	-	HGNC	X02910	CCDS4702.1	6p21.3	2013-05-22	2010-05-04		ENSG00000232810	ENSG00000232810		"""Tumor necrosis factor (ligand) superfamily"""	11892	protein-coding gene	gene with protein product	"""TNF superfamily, member 2"""	191160	"""tumor necrosis factor (TNF superfamily, member 2)"""	TNFA		2413547, 6392892	Standard	NM_000594		Approved	TNFSF2, DIF, TNF-alpha	uc003nui.4	P01375	OTTHUMG00000031194	ENST00000449264.2:c.85C>T	6.37:g.31543603C>T	ENSP00000398698:p.Arg29Trp	Somatic	0	57	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	7	86.27	O43647|Q9P1Q2|Q9UIV3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF_alpha,prints_TNF	p.R29W	ENST00000449264.2	37	c.85	CCDS4702.1	6	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068008	0.36470	.	.	ENSG00000232810	ENST00000449264	T	0.75938	-0.98	5.77	1.53	0.23141	.	0.301188	0.33005	N	0.005382	T	0.76126	0.3944	M	0.84511	2.7	0.09310	N	1	D	0.76494	0.999	D	0.65773	0.938	T	0.69172	-0.5215	10	0.42905	T	0.14	.	8.7152	0.34408	0.608:0.3174:0.0:0.0746	.	29	P01375	TNFA_HUMAN	W	29	ENSP00000398698:R29W	ENSP00000398698:R29W	R	+	1	2	TNF	31651582	0.005000	0.15991	0.027000	0.17364	0.378000	0.30076	0.140000	0.16056	-0.040000	0.13580	0.655000	0.94253	CGG	-	prints_TNF_alpha		0.637	TNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNF	protein_coding	OTTHUMT00000076390.2	C		-		31543603	+1	no_errors	ENST00000449264	ensembl	human	known	74_37	missense	SNP	0.008	T
PTGS2	5743	genome.wustl.edu	37	1	186648506	186648506	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr1:186648506C>A	ENST00000367468.5	-	2	253	c.117G>T	c.(115-117)caG>caT	p.Q39H	PTGS2_ENST00000490885.2_5'UTR|RP5-973M2.2_ENST00000608917.1_lincRNA	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	39	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	CGCACTTATACTGGTCAAATC	0.443																																																	0								ENSG00000073756						124.0	105.0	112.0					1																	186648506		2203	4300	6503	PTGS2	SO:0001583	missense	0			-	HGNC	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.117G>T	1.37:g.186648506C>A	ENSP00000356438:p.Gln39His	Somatic	0	35	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	98	27.94	A8K802|Q16876	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.Q39H	ENST00000367468.5	37	c.117	CCDS1371.1	1	.	.	.	.	.	.	.	.	.	.	C	9.191	1.025913	0.19512	.	.	ENSG00000073756	ENST00000367468	T	0.63580	-0.05	5.27	1.82	0.25136	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.394577	0.30142	N	0.010313	T	0.39572	0.1083	N	0.16066	0.365	0.31130	N	0.707851	B	0.02656	0.0	B	0.01281	0.0	T	0.29088	-1.0023	10	0.25751	T	0.34	-4.1821	8.9122	0.35559	0.0:0.6139:0.1109:0.2752	.	39	P35354	PGH2_HUMAN	H	39	ENSP00000356438:Q39H	ENSP00000356438:Q39H	Q	-	3	2	PTGS2	184915129	0.000000	0.05858	0.901000	0.35422	0.849000	0.48306	-0.509000	0.06336	0.213000	0.20722	-0.797000	0.03246	CAG	-	pfscan_EG-like_dom		0.443	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGS2	protein_coding	OTTHUMT00000086157.2	C	NM_000963	-		186648506	-1	no_errors	ENST00000367468	ensembl	human	known	74_37	missense	SNP	0.620	A
BBS4	585	genome.wustl.edu	37	15	73022025	73022025	+	Splice_Site	SNP	G	G	A			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr15:73022025G>A	ENST00000268057.4	+	10	752	c.711G>A	c.(709-711)aaG>aaA	p.K237K	BBS4_ENST00000542334.1_Splice_Site_p.K65K|BBS4_ENST00000539603.1_Splice_Site_p.K225K|BBS4_ENST00000395205.2_Splice_Site_p.K245K	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	237	Interaction with PCM1.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						CCAACTACAAGGTATTACAGG	0.433									Bardet-Biedl syndrome																																								0								ENSG00000140463						154.0	130.0	138.0					15																	73022025		2198	4297	6495	BBS4	SO:0001630	splice_region_variant	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	-	HGNC	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"""Tetratricopeptide (TTC) repeat domain containing"""	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.711+1G>A	15.37:g.73022025G>A		Somatic	0	71	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	58	92	38.67	B4E178|Q53DZ5|Q8NHU9|Q96H45	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.K245	ENST00000268057.4	37	c.735	CCDS10246.1	15																																																																																			-	pfscan_TPR-contain_dom		0.433	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS4	protein_coding	OTTHUMT00000257473.2	G	NM_033028	-	Silent	73022025	+1	no_errors	ENST00000395205	ensembl	human	known	74_37	silent	SNP	1.000	A
TUBAL3	79861	genome.wustl.edu	37	10	5436364	5436364	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr10:5436364C>T	ENST00000380419.3	-	4	494	c.457G>A	c.(457-459)Ggt>Agt	p.G153S	TUBAL3_ENST00000479328.1_Missense_Mutation_p.G113S	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	153					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						AACCCTGAACCAGTGCCTCCT	0.473																																																	0								ENSG00000178462						62.0	66.0	65.0					10																	5436364		2203	4300	6503	TUBAL3	SO:0001583	missense	0			-	HGNC	AK025318	CCDS7066.2, CCDS53491.1	10p15.1	2007-03-15			ENSG00000178462	ENSG00000178462		"""Tubulins"""	23534	protein-coding gene	gene with protein product							Standard	NM_024803		Approved	FLJ21665	uc001ihy.3	A6NHL2	OTTHUMG00000017595	ENST00000380419.3:c.457G>A	10.37:g.5436364C>T	ENSP00000369784:p.Gly153Ser	Somatic	0	29	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	57	21.92	B4DKL2|Q4QQJ5|Q9H6Z0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.G153S	ENST00000380419.3	37	c.457	CCDS7066.2	10	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354182	0.61293	.	.	ENSG00000178462	ENST00000380419;ENST00000479328	D;D	0.96200	-3.94;-3.94	4.55	4.55	0.56014	Tubulin, conserved site (1);Tubulin/FtsZ, GTPase domain (4);	0.000000	0.47455	D	0.000228	D	0.98346	0.9451	H	0.94503	3.545	0.53005	D	0.999967	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.99	D	0.99490	1.0950	10	0.87932	D	0	.	16.7952	0.85600	0.0:1.0:0.0:0.0	.	113;153	A6NHL2-2;A6NHL2	.;TBAL3_HUMAN	S	153;113	ENSP00000369784:G153S;ENSP00000418799:G113S	ENSP00000369784:G153S	G	-	1	0	TUBAL3	5426364	1.000000	0.71417	0.159000	0.22649	0.057000	0.15508	7.624000	0.83124	2.475000	0.83589	0.650000	0.86243	GGT	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin		0.473	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBAL3	protein_coding	OTTHUMT00000046548.2	C	NM_024803	-		5436364	-1	no_errors	ENST00000380419	ensembl	human	known	74_37	missense	SNP	0.996	T
TRPA1	8989	genome.wustl.edu	37	8	72952031	72952031	+	Splice_Site	SNP	G	G	A			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr8:72952031G>A	ENST00000262209.4	-	18	2270	c.2063C>T	c.(2062-2064)gCa>gTa	p.A688V	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron|TRPA1_ENST00000519720.1_5'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	688					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTGTACCATTGCCTGAGAAAT	0.294																																																	0								ENSG00000104321						79.0	82.0	81.0					8																	72952031		2203	4293	6496	TRPA1	SO:0001630	splice_region_variant	0			-	HGNC	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2062-1C>T	8.37:g.72952031G>A		Somatic	0	28	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	24	25.00	A6NIN6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.A688V	ENST00000262209.4	37	c.2063	CCDS34908.1	8	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422120	0.43020	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.77620	-1.11;-1.11	5.22	1.01	0.19927	.	0.270118	0.41500	N	0.000862	T	0.64940	0.2644	L	0.46157	1.445	0.31327	N	0.685333	B	0.11235	0.004	B	0.09377	0.004	T	0.54655	-0.8261	10	0.18276	T	0.48	-0.8054	7.7671	0.28986	0.3956:0.0:0.6044:0.0	.	688	O75762	TRPA1_HUMAN	V	540;688	ENSP00000428151:A540V;ENSP00000262209:A688V	ENSP00000262209:A688V	A	-	2	0	TRPA1	73114585	1.000000	0.71417	0.982000	0.44146	0.976000	0.68499	1.576000	0.36504	-0.124000	0.11724	0.591000	0.81541	GCA	-	NULL		0.294	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPA1	protein_coding	OTTHUMT00000379079.2	G	NM_007332	-	Missense_Mutation	72952031	-1	no_errors	ENST00000262209	ensembl	human	known	74_37	missense	SNP	1.000	A
DENND4A	10260	genome.wustl.edu	37	15	65982790	65982790	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr15:65982790C>T	ENST00000431932.2	-	22	4218	c.4010G>A	c.(4009-4011)tGg>tAg	p.W1337*	DENND4A_ENST00000567323.1_5'UTR|DENND4A_ENST00000443035.3_Nonsense_Mutation_p.W1380*	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1337					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TCTTGAATACCATTTGCTTGC	0.373																																																	0								ENSG00000174485						126.0	115.0	119.0					15																	65982790		2006	4166	6172	DENND4A	SO:0001587	stop_gained	0			-	HGNC	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.4010G>A	15.37:g.65982790C>T	ENSP00000396830:p.Trp1337*	Somatic	0	154	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	139	184	43.03	E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat	p.W1380*	ENST00000431932.2	37	c.4139	CCDS45285.1	15	.	.	.	.	.	.	.	.	.	.	C	45	11.363709	0.99551	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	.	.	.	5.46	5.46	0.80206	.	0.311255	0.33199	N	0.005172	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3125	0.94195	0.0:1.0:0.0:0.0	.	.	.	.	X	1380;1337	.	ENSP00000396830:W1337X	W	-	2	0	DENND4A	63769844	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.347000	0.52200	2.576000	0.86940	0.650000	0.86243	TGG	-	NULL		0.373	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4A	protein_coding	OTTHUMT00000419611.1	C	NM_005848	-		65982790	-1	no_errors	ENST00000443035	ensembl	human	known	74_37	nonsense	SNP	1.000	T
RP11-815J4.6	0	genome.wustl.edu	37	18	12076541	12076542	+	RNA	INS	-	-	CGCCGCCGCCGC	rs553400288	byFrequency	TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr18:12076541_12076542insCGCCGCCGCCGC	ENST00000591780.1	-	0	53_54																											CAGTGCCGCGGcgccgccgccg	0.797																																																	0								ENSG00000256616																																			RP11-815J4.6			0				Clone_based_vega_gene																													18.37:g.12076541_12076542insCGCCGCCGCCGC		Somatic	NA	NA	NA		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000591780.1	37	NULL		18																																																																																			-	-		0.797	RP11-815J4.6-002	KNOWN	basic	processed_transcript	ENSG00000256616	pseudogene	OTTHUMT00000452539.1	-				12076542	-1	no_errors	ENST00000591780	ensembl	human	known	74_37	rna	INS	0.834:0.844	CGCCGCCGCCGC
F13B	2165	genome.wustl.edu	37	1	197024914	197024914	+	Missense_Mutation	SNP	A	A	G	rs201427054		TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr1:197024914A>G	ENST00000367412.1	-	8	1328	c.1285T>C	c.(1285-1287)Tac>Cac	p.Y429H		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	429	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CTCAGTAAGTAATATTCATTG	0.428																																																	0								ENSG00000143278	A	HIS/TYR	0,4406		0,0,2203	117.0	113.0	114.0		1285	6.0	0.2	1		114	4,8596	3.7+/-12.6	0,4,4296	yes	missense	F13B	NM_001994.2	83	0,4,6499	GG,GA,AA		0.0465,0.0,0.0308	possibly-damaging	429/662	197024914	4,13002	2203	4300	6503	F13B	SO:0001583	missense	0			-	HGNC	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1285T>C	1.37:g.197024914A>G	ENSP00000356382:p.Tyr429His	Somatic	0	28	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	52	33.33	A8K3E5|Q5VYL5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.Y429H	ENST00000367412.1	37	c.1285	CCDS1388.1	1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.369001	0.24771	0.0	4.65E-4	ENSG00000143278	ENST00000367412	T	0.71817	-0.6	5.98	5.98	0.97165	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.30401	N	0.009709	T	0.69602	0.3129	M	0.73962	2.25	0.23933	N	0.996429	P	0.43578	0.811	B	0.41813	0.367	T	0.68629	-0.5358	10	0.42905	T	0.14	.	8.9332	0.35684	0.9177:0.0:0.0823:0.0	.	429	P05160	F13B_HUMAN	H	429	ENSP00000356382:Y429H	ENSP00000356382:Y429H	Y	-	1	0	F13B	195291537	1.000000	0.71417	0.249000	0.24280	0.007000	0.05969	3.154000	0.50693	2.289000	0.77006	0.482000	0.46254	TAC	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.428	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F13B	protein_coding	OTTHUMT00000088821.2	A	NM_001994	rs201427054		197024914	-1	no_errors	ENST00000367412	ensembl	human	known	74_37	missense	SNP	0.434	G
TRIM21	6737	genome.wustl.edu	37	11	4409555	4409555	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr11:4409555T>C	ENST00000254436.7	-	4	822	c.710A>G	c.(709-711)cAc>cGc	p.H237R	TRIM21_ENST00000543625.1_Missense_Mutation_p.H237R	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	237					cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		TGCTGAGCTGTGGCACCTTCG	0.547																																																	0								ENSG00000132109						70.0	70.0	70.0					11																	4409555		1978	4163	6141	TRIM21	SO:0001583	missense	0			-	HGNC	AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	11312	protein-coding gene	gene with protein product		109092	"""Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)"", ""tripartite motif-containing 21"""	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.710A>G	11.37:g.4409555T>C	ENSP00000254436:p.His237Arg	Somatic	0	46	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	11	78.85	Q5XPV5|Q96RF8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Ubox_domain,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata	p.H237R	ENST00000254436.7	37	c.710	CCDS44525.1	11	.	.	.	.	.	.	.	.	.	.	T	0.282	-0.985748	0.02180	.	.	ENSG00000132109	ENST00000254436;ENST00000543625	T;T	0.05855	3.38;3.38	4.34	0.229	0.15368	.	0.781993	0.11125	N	0.597002	T	0.02012	0.0063	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46205	-0.9208	10	0.33141	T	0.24	.	6.2731	0.20965	0.0:0.4911:0.0:0.5089	.	237	P19474	RO52_HUMAN	R	237	ENSP00000254436:H237R;ENSP00000444045:H237R	ENSP00000254436:H237R	H	-	2	0	TRIM21	4366131	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	0.113000	0.15499	0.046000	0.15833	0.533000	0.62120	CAC	-	NULL		0.547	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM21	protein_coding	OTTHUMT00000385842.1	T	NM_003141	-		4409555	-1	no_errors	ENST00000254436	ensembl	human	known	74_37	missense	SNP	0.016	C
SLC5A4	6527	genome.wustl.edu	37	22	32617002	32617002	+	Missense_Mutation	SNP	C	C	A	rs74530943	byFrequency	TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr22:32617002C>A	ENST00000266086.4	-	14	1684	c.1673G>T	c.(1672-1674)cGc>cTc	p.R558L	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	558					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCAGCACAGGCGGTACAGCTG	0.403																																																	0								ENSG00000100191						147.0	128.0	135.0					22																	32617002		2203	4300	6503	SLC5A4	SO:0001583	missense	0			-	HGNC	U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"""Solute carriers"""	11039	protein-coding gene	gene with protein product			"""solute carrier family 5 (low affinity glucose cotransporter), member 4"""			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.1673G>T	22.37:g.32617002C>A	ENSP00000266086:p.Arg558Leu	Somatic	0	87	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	143	8.92	O15279	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.R558L	ENST00000266086.4	37	c.1673	CCDS13903.1	22	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842747	0.51057	.	.	ENSG00000100191	ENST00000266086	D	0.81821	-1.54	4.49	3.48	0.39840	.	0.060319	0.64402	D	0.000003	D	0.88179	0.6367	M	0.92026	3.265	0.58432	D	0.999992	P	0.50528	0.936	P	0.54544	0.755	D	0.89321	0.3640	10	0.87932	D	0	.	10.1909	0.43026	0.0:0.9026:0.0:0.0974	.	558	Q9NY91	SC5A4_HUMAN	L	558	ENSP00000266086:R558L	ENSP00000266086:R558L	R	-	2	0	SLC5A4	30947002	1.000000	0.71417	0.650000	0.29550	0.226000	0.24999	4.284000	0.58983	1.109000	0.41680	0.467000	0.42956	CGC	-	NULL		0.403	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A4	protein_coding	OTTHUMT00000315724.1	C	NM_014227	-		32617002	-1	no_errors	ENST00000266086	ensembl	human	known	74_37	missense	SNP	0.999	A
AP3B2	8120	genome.wustl.edu	37	15	83328314	83328314	+	Nonstop_Mutation	SNP	A	A	C			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr15:83328314A>C	ENST00000261722.3	-	26	3454	c.3247T>G	c.(3247-3249)Tga>Gga	p.*1083G	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Nonstop_Mutation_p.*1051G|AP3B2_ENST00000535359.1_Nonstop_Mutation_p.*1102G	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	0					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TTTGGAAGTCACTGGGTCAGA	0.527																																																	0								ENSG00000103723						104.0	99.0	101.0					15																	83328314		2054	4199	6253	AP3B2	SO:0001578	stop_lost	0			-	HGNC	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.3247T>G	15.37:g.83328314A>C	ENSP00000261722:p.*1083Argext*16	Somatic	0	36	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	52	50	50.98	A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Nonstop_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta	p.*1083G	ENST00000261722.3	37	c.3247	CCDS45331.1	15	.	.	.	.	.	.	.	.	.	.	A	16.25	3.069348	0.55539	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	.	.	.	4.88	3.73	0.42828	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8976	0.52665	0.8538:0.1462:0.0:0.0	.	.	.	.	G	1083;1051;1102	.	.	X	-	1	0	AP3B2	81125369	1.000000	0.71417	0.622000	0.29159	0.762000	0.43233	8.677000	0.91203	0.794000	0.33899	0.379000	0.24179	TGA	-	NULL		0.527	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B2	protein_coding	OTTHUMT00000397463.1	A		-		83328314	-1	no_errors	ENST00000261722	ensembl	human	known	74_37	nonstop	SNP	1.000	C
PRKDC	5591	genome.wustl.edu	37	8	48746783	48746783	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr8:48746783C>T	ENST00000314191.2	-	60	8179	c.8123G>A	c.(8122-8124)gGg>gAg	p.G2708E	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.G2708E	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2709	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CACCTCGTCCCCTGGAAGGCC	0.498								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0								ENSG00000253729						245.0	248.0	247.0					8																	48746783		1978	4166	6144	PRKDC	SO:0001583	missense	0			-	HGNC		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.8123G>A	8.37:g.48746783C>T	ENSP00000313420:p.Gly2708Glu	Somatic	0	117	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	233	8.63	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.G2708E	ENST00000314191.2	37	c.8123		8	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323294	0.41096	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02323	4.41;4.34	5.27	3.45	0.39498	.	0.398796	0.23389	N	0.048714	T	0.03348	0.0097	L	0.47716	1.5	0.34788	D	0.73545	B;B	0.11235	0.004;0.004	B;B	0.12156	0.007;0.004	T	0.28554	-1.0040	10	0.12430	T	0.62	.	12.02	0.53337	0.0:0.857:0.0:0.143	.	2708;2709	E7EUY0;P78527	.;PRKDC_HUMAN	E	2708	ENSP00000313420:G2708E;ENSP00000345182:G2708E	ENSP00000313420:G2708E	G	-	2	0	PRKDC	48909336	0.748000	0.28294	0.787000	0.31911	0.984000	0.73092	1.586000	0.36611	0.585000	0.29608	0.563000	0.77884	GGG	-	NULL		0.498	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	protein_coding		C	NM_001081640	-		48746783	-1	no_errors	ENST00000314191	ensembl	human	known	74_37	missense	SNP	0.962	T
CDH12	1010	genome.wustl.edu	37	5	22144060	22144060	+	Intron	DEL	A	A	-			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr5:22144060delA	ENST00000382254.1	-	5	901				PMCHL1_ENST00000418902.1_RNA|CDH12_ENST00000504376.2_Intron|RP11-855C21.1_ENST00000524042.1_RNA|CDH12_ENST00000522262.1_Intron	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)						adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ACTGCCACTTAAAAAAAAAAA	0.289										HNSCC(59;0.17)																																							0								ENSG00000168967																																			PMCHL1	SO:0001627	intron_variant	0				HGNC	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.186-65089T>-	5.37:g.22144060delA		Somatic	0	8	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	10	28.57	B2RBT1|B7Z2U6|Q86UD2	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000382254.1	37	NULL	CCDS3890.1	5																																																																																			-	-		0.289	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMCHL1	protein_coding	OTTHUMT00000207139.1	A	NM_004061			22144060	+1	no_errors	ENST00000418902	ensembl	human	known	74_37	rna	DEL	0.004	-
RFPL3	10738	genome.wustl.edu	37	22	32754084	32754084	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr22:32754084C>A	ENST00000249007.4	+	1	231	c.26C>A	c.(25-27)aCt>aAt	p.T9N	RFPL3_ENST00000382088.3_5'Flank|RFPL3S_ENST00000461833.1_5'Flank|RFPL3_ENST00000397468.1_Intron	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	9							zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						CTTGTCACAACTAACAGGCTT	0.478																																																	0								ENSG00000128276						110.0	110.0	110.0					22																	32754084		2203	4299	6502	RFPL3	SO:0001583	missense	0			-	HGNC	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.26C>A	22.37:g.32754084C>A	ENSP00000249007:p.Thr9Asn	Somatic	0	121	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	103	149	40.87	A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.T9N	ENST00000249007.4	37	c.26	CCDS43011.1	22	.	.	.	.	.	.	.	.	.	.	C	4.928	0.172341	0.09391	.	.	ENSG00000128276	ENST00000249007	T	0.52754	0.65	0.586	-1.17	0.09648	.	.	.	.	.	T	0.21631	0.0521	N	0.14661	0.345	0.09310	N	1	P	0.36222	0.544	B	0.23150	0.044	T	0.09930	-1.0652	8	0.87932	D	0	.	.	.	.	.	9	O75679	RFPL3_HUMAN	N	9	ENSP00000249007:T9N	ENSP00000249007:T9N	T	+	2	0	RFPL3	31084084	0.414000	0.25408	0.002000	0.10522	0.118000	0.20060	0.733000	0.26087	-0.351000	0.08249	0.194000	0.17425	ACT	-	NULL		0.478	RFPL3-001	KNOWN	basic|CCDS	protein_coding	RFPL3	protein_coding	OTTHUMT00000075172.3	C	NM_006604	-		32754084	+1	no_errors	ENST00000249007	ensembl	human	known	74_37	missense	SNP	0.003	A
FABP1	2168	genome.wustl.edu	37	2	88423901	88423901	+	Intron	SNP	G	G	A			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr2:88423901G>A	ENST00000295834.3	-	3	432				FABP1_ENST00000495375.1_5'UTR|FABP1_ENST00000393750.3_3'UTR	NM_001443.2	NP_001434.1	P07148	FABPL_HUMAN	fatty acid binding protein 1, liver						cellular lipid metabolic process (GO:0044255)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|intestinal absorption (GO:0050892)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of hydrolase activity (GO:0051345)|small molecule metabolic process (GO:0044281)	apical cortex (GO:0045179)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|peroxisomal matrix (GO:0005782)	antioxidant activity (GO:0016209)|bile acid binding (GO:0032052)|chromatin binding (GO:0003682)|drug binding (GO:0008144)|fatty acid binding (GO:0005504)|long-chain fatty acid transporter activity (GO:0005324)|phospholipid binding (GO:0005543)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						AAGAAGTTTGGGGGTTGGAGG	0.552																																																	0								ENSG00000163586																																			FABP1	SO:0001627	intron_variant	0			-	HGNC	M10617	CCDS2001.1	2p11	2013-03-01			ENSG00000163586	ENSG00000163586		"""Fatty acid binding protein family"""	3555	protein-coding gene	gene with protein product		134650				3012800, 17698986	Standard	NM_001443		Approved	L-FABP	uc002sst.2	P07148	OTTHUMG00000130312	ENST00000295834.3:c.333+111C>T	2.37:g.88423901G>A		Somatic	0	31	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	35	52.05		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000295834.3	37	NULL	CCDS2001.1	2																																																																																			-	-		0.552	FABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FABP1	protein_coding	OTTHUMT00000252660.1	G	NM_001443	-		88423901	-1	no_errors	ENST00000495375	ensembl	human	known	74_37	rna	SNP	0.000	A
ZCCHC18	644353	genome.wustl.edu	37	X	103360279	103360279	+	3'UTR	SNP	T	T	A			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chrX:103360279T>A	ENST00000537356.3	+	0	2891				SLC25A53_ENST00000357421.4_Intron|ZCCHC18_ENST00000422784.1_3'UTR			P0CG32	ZCC18_HUMAN	zinc finger, CCHC domain containing 18								nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)										aaggagcatcttttcattaaa	0.373																																																	0								ENSG00000166707																																			ZCCHC18	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AF086548	CCDS65304.1	Xq22.2	2013-01-31	2009-02-03		ENSG00000166707	ENSG00000166707		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	32459	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7B"""		"""zinc finger, CCHC domain containing 12 pseudogene 1"""				Standard	NM_001143978		Approved	SIZN2, PNMA7B	uc011msh.2	P0CG32	OTTHUMG00000022123	ENST00000537356.3:c.*265T>A	X.37:g.103360279T>A		Somatic	0	64	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	67	84	44.37		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000537356.3	37	NULL		X																																																																																			-	-		0.373	ZCCHC18-006	PUTATIVE	basic|appris_principal	protein_coding	ZCCHC18	protein_coding	OTTHUMT00000471686.1	T	NM_001143978	-		103360279	+1	no_errors	ENST00000422784	ensembl	human	known	74_37	rna	SNP	0.000	A
LRRIQ3	127255	genome.wustl.edu	37	1	74648303	74648303	+	Silent	SNP	T	T	A			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr1:74648303T>A	ENST00000395089.1	-	2	491	c.492A>T	c.(490-492)atA>atT	p.I164I	LRRIQ3_ENST00000370911.3_Silent_p.I164I|LRRIQ3_ENST00000354431.4_Silent_p.I164I|LRRIQ3_ENST00000370909.2_Intron			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	164	LRRCT.									NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AGTTCTGAATTATTTCTTCAT	0.373																																																	0								ENSG00000162620						91.0	91.0	91.0					1																	74648303		2202	4299	6501	LRRIQ3	SO:0001819	synonymous_variant	0			-	HGNC	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.492A>T	1.37:g.74648303T>A		Somatic	0	63	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	55	87	38.73	A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Silent	SNP	NA	NA	NA	NA	NA	NA	pfscan_IQ_motif_EF-hand-BS	p.I164	ENST00000395089.1	37	c.492	CCDS41350.1	1																																																																																			-	NULL		0.373	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRIQ3	protein_coding	OTTHUMT00000316539.1	T	NM_145258	-		74648303	-1	no_errors	ENST00000354431	ensembl	human	known	74_37	silent	SNP	0.990	A
NEFM	4741	genome.wustl.edu	37	8	24774755	24774755	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr8:24774755G>T	ENST00000221166.5	+	3	2169	c.1387G>T	c.(1387-1389)Gag>Tag	p.E463*	NEFM_ENST00000521540.1_3'UTR|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000437366.2_Nonsense_Mutation_p.E463*|NEFM_ENST00000518131.1_Nonsense_Mutation_p.E463*|NEFM_ENST00000433454.2_Nonsense_Mutation_p.E87*			P07197	NFM_HUMAN	neurofilament, medium polypeptide	463	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AACCAAAGTGGAGGATGAGAA	0.443																																																	0								ENSG00000104722						74.0	74.0	74.0					8																	24774755		2203	4300	6503	NEFM	SO:0001587	stop_gained	0			-	HGNC	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.1387G>T	8.37:g.24774755G>T	ENSP00000221166:p.Glu463*	Somatic	0	31	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	33	47.62	B4DGN2|E9PBF7|Q4QRK6	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I	p.E463*	ENST00000221166.5	37	c.1387	CCDS6046.1	8	.	.	.	.	.	.	.	.	.	.	G	38	7.110279	0.98070	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366;ENST00000433454	.	.	.	4.8	4.8	0.61643	.	0.000000	0.47852	D	0.000217	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	17.8109	0.88616	0.0:0.0:1.0:0.0	.	.	.	.	X	463;463;463;87	.	ENSP00000221166:E463X	E	+	1	0	NEFM	24830660	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.393000	0.97256	2.357000	0.79964	0.467000	0.42956	GAG	-	NULL		0.443	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEFM	protein_coding	OTTHUMT00000254954.2	G	NM_005382	-		24774755	+1	no_errors	ENST00000221166	ensembl	human	known	74_37	nonsense	SNP	1.000	T
GPSM3	63940	genome.wustl.edu	37	6	32159549	32159549	+	Silent	SNP	G	G	C			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr6:32159549G>C	ENST00000375040.3	-	3	674	c.282C>G	c.(280-282)gcC>gcG	p.A94A	PBX2_ENST00000375050.4_5'Flank|GPSM3_ENST00000487761.1_Silent_p.A91A|GPSM3_ENST00000375043.3_Silent_p.A94A	NM_001276501.1	NP_001263430.1	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3	94					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cytoplasm (GO:0005737)	GDP-dissociation inhibitor activity (GO:0005092)			large_intestine(1)	1						GTGGGGCAGGGGCTAGGCTTG	0.612																																																	0								ENSG00000213654						54.0	67.0	62.0					6																	32159549		1492	2702	4194	GPSM3	SO:0001819	synonymous_variant	0			-	HGNC	AF155657	CCDS34419.1	6p21.3	2010-06-24	2010-06-24	2004-02-04	ENSG00000213654	ENSG00000213654			13945	protein-coding gene	gene with protein product	"""activator of G-protein signaling 4"""		"""chromosome 6 open reading frame 9"", ""G-protein signalling modulator 3 (AGS3-like, C. elegans)"""	C6orf9		2259622, 15096500	Standard	NM_022107		Approved	NG1, G18, G18.1a, G18.1b, G18.2, AGS4	uc003oaz.3	Q9Y4H4	OTTHUMG00000031244	ENST00000375040.3:c.282C>G	6.37:g.32159549G>C		Somatic	0	32	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	52	11.86	A2BFJ3	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif	p.A94	ENST00000375040.3	37	c.282	CCDS34419.1	6																																																																																			-	NULL		0.612	GPSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPSM3	protein_coding	OTTHUMT00000076509.1	G	NM_022107	-		32159549	-1	no_errors	ENST00000375040	ensembl	human	known	74_37	silent	SNP	0.000	C
PHF20L1	51105	genome.wustl.edu	37	8	133854714	133854715	+	Intron	INS	-	-	T	rs71276510|rs398038307		TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr8:133854714_133854715insT	ENST00000395386.2	+	19	2686				AF230666.2_ENST00000608375.1_RNA|PHF20L1_ENST00000220847.7_Intron|PHF20L1_ENST00000395390.2_Intron|AF230666.2_ENST00000429151.1_RNA	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1								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)			TTGTTAATAGATTTTTTTTTTT	0.356																																																	0								ENSG00000223697																																			AF230666.2	SO:0001627	intron_variant	0				Clone_based_vega_gene	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.2388-45->T	8.37:g.133854725_133854725dupT		Somatic	0	24	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	42	10.64	A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000395386.2	37	NULL	CCDS6367.2	8																																																																																			-	-		0.356	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ENSG00000223697	protein_coding	OTTHUMT00000308949.3	-	NM_016018			133854715	-1	no_errors	ENST00000608375	ensembl	human	known	74_37	rna	INS	0.014:0.003	T
ATRNL1	26033	genome.wustl.edu	37	10	117059564	117059564	+	Silent	SNP	C	C	A			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr10:117059564C>A	ENST00000355044.3	+	16	2562	c.2436C>A	c.(2434-2436)ggC>ggA	p.G812G	ATRNL1_ENST00000423111.2_5'Flank|ATRNL1_ENST00000303745.7_5'Flank	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	812	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CTTGGGTAGGCTTGCGCAAGA	0.403																																																	0								ENSG00000107518						113.0	106.0	109.0					10																	117059564		2203	4300	6503	ATRNL1	SO:0001819	synonymous_variant	0			-	HGNC	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.2436C>A	10.37:g.117059564C>A		Somatic	0	81	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	68	10	87.18	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.G812	ENST00000355044.3	37	c.2436	CCDS7592.1	10																																																																																			-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.403	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	protein_coding	OTTHUMT00000050507.3	C	XM_049349	-		117059564	+1	no_errors	ENST00000355044	ensembl	human	known	74_37	silent	SNP	1.000	A
LOC642426	642426	genome.wustl.edu	37	14	19412698	19412698	+	lincRNA	SNP	G	G	T	rs201052759		TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr14:19412698G>T	ENST00000548050.1	-	0	0				RP11-536C10.16_ENST00000550928.1_lincRNA	NR_046104.1																						ACCTGGGCTGGCTGACAGGAA	0.587																																																	0								ENSG00000258364																																			RP11-536C10.16			0			-	Clone_based_vega_gene																													14.37:g.19412698G>T		Somatic	0	11	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	3	85.71		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000548050.1	37	NULL		14																																																																																			-	-		0.587	RP11-536C10.7-001	KNOWN	basic	lincRNA	ENSG00000258364	lincRNA	OTTHUMT00000408404.1	G		rs201052759		19412698	+1	no_errors	ENST00000550928	ensembl	human	known	74_37	rna	SNP	0.101	T
DUSP12	11266	genome.wustl.edu	37	1	161726620	161726639	+	Frame_Shift_Del	DEL	GTATGGTGAACAGTGCTCTT	GTATGGTGAACAGTGCTCTT	-	rs112604425|rs542400759		TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	GTATGGTGAACAGTGCTCTT	GTATGGTGAACAGTGCTCTT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr1:161726620_161726639delGTATGGTGAACAGTGCTCTT	ENST00000367943.4	+	6	938_957	c.906_925delGTATGGTGAACAGTGCTCTT	c.(904-927)tggtatggtgaacagtgctcttgtfs	p.YGEQCSC303fs		NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	303					cellular protein modification process (GO:0006464)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of glucokinase activity (GO:0033133)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			CCTTCAACTGGTATGGTGAACAGTGCTCTTGTGGTAGGTG	0.355																																																	0								ENSG00000081721																																			DUSP12	SO:0001589	frameshift_variant	0				HGNC	AF119226	CCDS1234.1	1q21-q22	2011-06-09			ENSG00000081721	ENSG00000081721		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	3067	protein-coding gene	gene with protein product	"""serine/threonine specific protein phosphatase"", ""YVH1 protein-tyrosine phosphatase (S. cerevisiae) ortholog"""	604835				10446167	Standard	XM_005244862		Approved	YVH1, DUSP1	uc001gbo.3	Q9UNI6	OTTHUMG00000034540	ENST00000367943.4:c.906_925delGTATGGTGAACAGTGCTCTT	1.37:g.161726620_161726639delGTATGGTGAACAGTGCTCTT	ENSP00000356920:p.Tyr303fs	Somatic	NA	NA	NA		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q5VXA8	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_DUSP12,pfscan_Znf_C2H2,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.Y303fs	ENST00000367943.4	37	c.906_925	CCDS1234.1	1																																																																																			-	pirsf_DUSP12		0.355	DUSP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP12	protein_coding	OTTHUMT00000083588.1	GTATGGTGAACAGTGCTCTT	NM_007240			161726639	+1	no_errors	ENST00000367943	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:0.997:1.000:1.000:0.997:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.996:0.000:0.951	-
RAET1K	646024	genome.wustl.edu	37	6	150322718	150322718	+	RNA	SNP	C	C	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr6:150322718C>T	ENST00000533735.1	-	0	158					NR_024045.1				retinoic acid early transcript 1K pseudogene																		AAAGGCCTTTCATCCACCAGG	0.438																																																	0								ENSG00000218358																																			RAET1K			0			-	HGNC	AF425244		6q25.1	2012-01-10			ENSG00000218358	ENSG00000218358			16797	pseudogene	pseudogene						11827464	Standard	NR_024045		Approved		uc003qnq.3		OTTHUMG00000015815		6.37:g.150322718C>T		Somatic	0	124	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	107	133	44.58		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000533735.1	37	NULL		6																																																																																			-	-		0.438	RAET1K-002	KNOWN	basic	processed_transcript	RAET1K	pseudogene	OTTHUMT00000390882.1	C		-		150322718	-1	no_errors	ENST00000533735	ensembl	human	known	74_37	rna	SNP	0.000	T
DLG3	1741	genome.wustl.edu	37	X	69699100	69699100	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chrX:69699100G>T	ENST00000374360.3	+	10	1739	c.1506G>T	c.(1504-1506)agG>agT	p.R502S	DLG3_ENST00000542398.1_Missense_Mutation_p.R19S|DLG3_ENST00000194900.4_Missense_Mutation_p.R520S|DLG3_ENST00000374355.3_Missense_Mutation_p.R165S	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	502					axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GTGAAAAGAGGTCCTTGTATG	0.488																																																	0								ENSG00000082458						155.0	135.0	142.0					X																	69699100		2203	4300	6503	DLG3	SO:0001583	missense	0			-	HGNC	U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"""neuroendocrine-dlg"", ""protein phosphatase 1, regulatory subunit 82"""	300189	"""discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"""			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.1506G>T	X.37:g.69699100G>T	ENSP00000363480:p.Arg502Ser	Somatic	0	87	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	56	67	45.16	B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.R520S	ENST00000374360.3	37	c.1560	CCDS14403.1	X	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819949	0.50633	.	.	ENSG00000082458	ENST00000194900;ENST00000374360;ENST00000374355;ENST00000542398	D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56	5.43	4.5	0.54988	Src homology-3 domain (2);	0.000000	0.85682	U	0.000000	D	0.86896	0.6043	M	0.80422	2.495	0.58432	D	0.999999	P;D;P	0.54601	0.599;0.967;0.865	B;P;P	0.52267	0.284;0.694;0.599	D	0.87415	0.2378	9	.	.	.	.	11.85	0.52405	0.1009:0.0:0.8991:0.0	.	19;165;502	B4E0H1;Q5JUW6;Q92796	.;.;DLG3_HUMAN	S	520;502;165;19	ENSP00000194900:R520S;ENSP00000363480:R502S;ENSP00000363475:R165S;ENSP00000441393:R19S	.	R	+	3	2	DLG3	69615825	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.224000	0.32539	2.509000	0.84616	0.600000	0.82982	AGG	-	superfamily_SH3_domain,pirsf_M-assoc_guanylate_kinase,pfscan_SH3_domain		0.488	DLG3-001	KNOWN	basic|CCDS	protein_coding	DLG3	protein_coding	OTTHUMT00000057074.2	G	NM_021120	-		69699100	+1	no_errors	ENST00000194900	ensembl	human	known	74_37	missense	SNP	1.000	T
FRMPD3	84443	genome.wustl.edu	37	X	106803532	106803532	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chrX:106803532C>G	ENST00000276185.4	+	10	907	c.907C>G	c.(907-909)Cca>Gca	p.P303A				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	303	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GGATCCCAAGCCAGAGATGCT	0.502																																																	0								ENSG00000147234						133.0	117.0	122.0					X																	106803532		876	1991	2867	FRMPD3	SO:0001583	missense	0			-	HGNC	AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.907C>G	X.37:g.106803532C>G	ENSP00000276185:p.Pro303Ala	Somatic	0	27	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	36	40.98	Q96JK8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ	p.P303A	ENST00000276185.4	37	c.907		X	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508156	0.64410	.	.	ENSG00000147234	ENST00000276185;ENST00000439554	T;T	0.77229	-1.08;-1.08	5.16	5.16	0.70880	.	0.063133	0.64402	D	0.000004	T	0.70631	0.3246	L	0.34521	1.04	0.36613	D	0.875345	.	.	.	.	.	.	T	0.68006	-0.5523	8	0.02654	T	1	.	16.676	0.85279	0.0:1.0:0.0:0.0	.	.	.	.	A	303;251	ENSP00000276185:P303A;ENSP00000398668:P251A	ENSP00000276185:P303A	P	+	1	0	FRMPD3	106690188	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.506000	0.60428	2.142000	0.66516	0.529000	0.55759	CCA	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain		0.502	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	FRMPD3	protein_coding		C	XM_042978	-		106803532	+1	no_errors	ENST00000276185	ensembl	human	known	74_37	missense	SNP	1.000	G
FKBP15	23307	genome.wustl.edu	37	9	115932150	115932151	+	In_Frame_Ins	INS	-	-	TTC	rs370557763|rs113480096|rs62620695	byFrequency	TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr9:115932150_115932151insTTC	ENST00000238256.3	-	26	2955_2956	c.2838_2839insGAA	c.(2836-2841)gaaaaa>gaaGAAaaa	p.946_947insE		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	946					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						tcttctgctttttcttcttctt	0.525																																																	0								ENSG00000119321																																			FKBP15	SO:0001652	inframe_insertion	0				HGNC	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.2836_2838dupGAA	9.37:g.115932157_115932159dupTTC	ENSP00000238256:p.Glu946_Glu946dup	Somatic	0	9	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	17	22.73	Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	In_Frame_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom	p.946in_frame_insE	ENST00000238256.3	37	c.2839_2838	CCDS48007.1	9																																																																																			-	NULL		0.525	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP15	protein_coding		-	NM_015258			115932151	-1	no_errors	ENST00000238256	ensembl	human	known	74_37	in_frame_ins	INS	0.001:0.005	TTC
FXN	2395	genome.wustl.edu	37	9	71687569	71687569	+	Missense_Mutation	SNP	A	A	C	rs1052201		TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr9:71687569A>C	ENST00000377270.3	+	5	1048	c.524A>C	c.(523-525)tAc>tCc	p.Y175S	FXN_ENST00000396366.2_Missense_Mutation_p.T178P|FXN_ENST00000498653.1_Missense_Mutation_p.Y100S|FXN_ENST00000396364.3_Intron	NM_000144.4	NP_000135.2	Q16595	FRDA_HUMAN	frataxin	175				Y -> F (in Ref. 1; AAA98508/AAA98510). {ECO:0000305}.	adult walking behavior (GO:0007628)|aerobic respiration (GO:0009060)|cellular iron ion homeostasis (GO:0006879)|cellular response to hydrogen peroxide (GO:0070301)|embryo development ending in birth or egg hatching (GO:0009792)|heme biosynthetic process (GO:0006783)|ion transport (GO:0006811)|iron incorporation into metallo-sulfur cluster (GO:0018283)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|oxidative phosphorylation (GO:0006119)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)|proprioception (GO:0019230)|protein autoprocessing (GO:0016540)|regulation of ferrochelatase activity (GO:0010722)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)|iron chaperone activity (GO:0034986)|iron-sulfur cluster binding (GO:0051536)			large_intestine(1)|lung(1)	2						AACTGGGTGTACTCCCACGAC	0.498																																																	0								ENSG00000165060						136.0	113.0	121.0					9																	71687569		2203	4300	6503	FXN	SO:0001583	missense	0			-	HGNC	U43752	CCDS6626.1, CCDS43834.1, CCDS55313.1	9q21.11	2014-09-17	2004-08-16	2004-08-19	ENSG00000165060	ENSG00000165060			3951	protein-coding gene	gene with protein product		606829	"""Friedreich ataxia"""	FRDA		8596916, 8841185	Standard	NM_000144		Approved	FA, FARR, X25, CyaY	uc004aha.2	Q16595	OTTHUMG00000019977	ENST00000377270.3:c.524A>C	9.37:g.71687569A>C	ENSP00000366482:p.Tyr175Ser	Somatic	0	94	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	74	106	41.11	A8MXJ6|C9JJ89|O15545|O95656|Q15294|Q5VZ01	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Frataxin/CyaY,superfamily_Frataxin/CyaY,pfscan_Frataxin/CyaY,prints_Frataxin/CyaY,tigrfam_Frataxin,tigrfam_Frataxin/CyaY	p.Y175S	ENST00000377270.3	37	c.524	CCDS6626.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.12|14.12	2.439482|2.439482	0.43326|0.43326	.|.	.|.	ENSG00000165060|ENSG00000165060	ENST00000396366|ENST00000377270;ENST00000498653	D|D;D	0.96265|0.96334	-3.96|-3.98;-3.98	4.87|4.87	4.87|4.87	0.63330|0.63330	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97167|0.97167	0.9074|0.9074	L|L	0.57130|0.57130	1.785|1.785	0.80722|0.80722	D|D	1|1	P|D	0.48503|0.89917	0.911|1.0	P|D	0.44394|0.81914	0.448|0.995	D|D	0.96559|0.96559	0.9414|0.9414	9|10	0.30854|0.33940	T|T	0.27|0.23	-18.2155|-18.2155	14.18|14.18	0.65568|0.65568	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	178|175	A8MXJ6|Q16595	.|FRDA_HUMAN	P|S	178|175;100	ENSP00000379652:T178P|ENSP00000366482:Y175S;ENSP00000418015:Y100S	ENSP00000379652:T178P|ENSP00000366482:Y175S	T|Y	+|+	1|2	0|0	FXN|FXN	70877389|70877389	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.500000|0.500000	0.33767|0.33767	8.832000|8.832000	0.92079|0.92079	1.830000|1.830000	0.53286|0.53286	0.460000|0.460000	0.39030|0.39030	ACT|TAC	-	pfam_Frataxin/CyaY,superfamily_Frataxin/CyaY,pfscan_Frataxin/CyaY,tigrfam_Frataxin,tigrfam_Frataxin/CyaY		0.498	FXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FXN	protein_coding	OTTHUMT00000052568.2	A	NM_000144	-		71687569	+1	no_errors	ENST00000377270	ensembl	human	known	74_37	missense	SNP	0.999	C
STAB2	55576	genome.wustl.edu	37	12	104054498	104054498	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr12:104054498G>C	ENST00000388887.2	+	17	2030	c.1826G>C	c.(1825-1827)aGg>aCg	p.R609T	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCTCACATCAGGAGCATGGCC	0.483																																																	0								ENSG00000136011						212.0	176.0	188.0					12																	104054498		2203	4300	6503	STAB2	SO:0001583	missense	0			-	HGNC	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.1826G>C	12.37:g.104054498G>C	ENSP00000373539:p.Arg609Thr	Somatic	0	75	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	57	74	43.51		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.R609T	ENST00000388887.2	37	c.1826	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	G	9.118	1.008163	0.19199	.	.	ENSG00000136011	ENST00000388887	D	0.91124	-2.79	5.63	4.74	0.60224	FAS1 domain (5);	0.292144	0.30959	N	0.008530	T	0.81069	0.4746	L	0.33339	1.005	0.28210	N	0.926989	B	0.29552	0.248	B	0.22152	0.038	T	0.67496	-0.5656	10	0.13108	T	0.6	.	6.4392	0.21841	0.151:0.0:0.7008:0.1482	.	609	Q8WWQ8	STAB2_HUMAN	T	609	ENSP00000373539:R609T	ENSP00000373539:R609T	R	+	2	0	STAB2	102578628	0.611000	0.26992	0.851000	0.33527	0.593000	0.36681	1.493000	0.35605	1.375000	0.46248	0.655000	0.94253	AGG	-	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain		0.483	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	protein_coding	OTTHUMT00000407089.1	G		-		104054498	+1	no_errors	ENST00000388887	ensembl	human	known	74_37	missense	SNP	0.827	C
DNHD1	144132	genome.wustl.edu	37	11	6569107	6569107	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr11:6569107A>G	ENST00000527990.2	+	20	6742	c.6742A>G	c.(6742-6744)Agt>Ggt	p.S2248G	DNHD1_ENST00000254579.6_Missense_Mutation_p.S2248G			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	2248					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCTCAGCTATAGTGATCCTGT	0.473																																																	0								ENSG00000179532						52.0	45.0	47.0					11																	6569107		692	1591	2283	DNHD1	SO:0001583	missense	0			-	HGNC	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.6742A>G	11.37:g.6569107A>G	ENSP00000436180:p.Ser2248Gly	Somatic	0	55	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	4	87.88	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE	p.S2248G	ENST00000527990.2	37	c.6742	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	A	12.83	2.054788	0.36277	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000533649	T;T	0.28255	1.62;1.62	5.59	0.147	0.14838	.	1.144020	0.06334	N	0.706740	T	0.22898	0.0553	L	0.47716	1.5	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.27806	-1.0063	10	0.24483	T	0.36	.	2.7256	0.05213	0.3909:0.0:0.251:0.358	.	2248	Q96M86	DNHD1_HUMAN	G	2248;2248;539	ENSP00000254579:S2248G;ENSP00000436180:S2248G	ENSP00000254579:S2248G	S	+	1	0	DNHD1	6525683	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	0.368000	0.20399	0.369000	0.24510	0.533000	0.62120	AGT	-	NULL		0.473	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	protein_coding	OTTHUMT00000384673.2	A	NM_144666	-		6569107	+1	no_errors	ENST00000254579	ensembl	human	known	74_37	missense	SNP	0.000	G
GIMAP6	474344	genome.wustl.edu	37	7	150325422	150325422	+	Silent	SNP	C	C	A			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr7:150325422C>A	ENST00000328902.5	-	3	480	c.264G>T	c.(262-264)ggG>ggT	p.G88G	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	88	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAAGCTCCTTCCCAGCCCACT	0.592																																																	0								ENSG00000133561						113.0	115.0	114.0					7																	150325422		2203	4300	6503	GIMAP6	SO:0001819	synonymous_variant	0			-	HGNC	AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"""GTPases, IMAP"""	21918	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 6"""					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.264G>T	7.37:g.150325422C>A		Somatic	0	51	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	46	49.45	C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_AIG1,superfamily_P-loop_NTPase	p.G88	ENST00000328902.5	37	c.264	CCDS34778.1	7																																																																																			-	pfam_AIG1,superfamily_P-loop_NTPase		0.592	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP6	protein_coding	OTTHUMT00000353457.1	C	NM_024711	-		150325422	-1	no_errors	ENST00000328902	ensembl	human	known	74_37	silent	SNP	0.008	A
EBNA1BP2	10969	genome.wustl.edu	37	1	43637075	43637075	+	Intron	SNP	C	C	A			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr1:43637075C>A	ENST00000236051.2	-	3	465				WDR65_ENST00000528956.1_5'Flank|EBNA1BP2_ENST00000472982.1_5'UTR|EBNA1BP2_ENST00000431635.2_Intron|WDR65_ENST00000372492.4_5'Flank	NM_006824.2	NP_006815.2	Q99848	EBP2_HUMAN	EBNA1 binding protein 2						ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGAGTGCAGACTTACTAATTT	0.443																																																	0								ENSG00000117395																																			EBNA1BP2	SO:0001627	intron_variant	0			-	HGNC	U86602	CCDS478.1, CCDS53308.1	1p35-p33	2011-02-10	2001-11-28		ENSG00000117395	ENSG00000117395			15531	protein-coding gene	gene with protein product		614443	"""EBNA1-binding protein 2"""			10074103, 11438656	Standard	NM_001159936		Approved	NOBP, EBP2, P40	uc010ojx.2	Q99848	OTTHUMG00000007284	ENST00000236051.2:c.323+74G>T	1.37:g.43637075C>A		Somatic	0	14	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	20	44.44	Q96A66	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000236051.2	37	NULL	CCDS478.1	1																																																																																			-	-		0.443	EBNA1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EBNA1BP2	protein_coding	OTTHUMT00000019015.1	C		-		43637075	-1	no_errors	ENST00000472982	ensembl	human	known	74_37	rna	SNP	0.002	A
ITPKB	3707	genome.wustl.edu	37	1	226924876	226924884	+	In_Frame_Del	DEL	CTGCCGCTG	CTGCCGCTG	-	rs147889095	byFrequency	TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	CTGCCGCTG	CTGCCGCTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr1:226924876_226924884delCTGCCGCTG	ENST00000272117.3	-	1	275_283	c.276_284delCAGCGGCAG	c.(274-285)agcagcggcagt>agt	p.92_95SSGS>S	ITPKB_ENST00000366784.1_In_Frame_Del_p.92_95SSGS>S|ITPKB_ENST00000429204.1_In_Frame_Del_p.92_95SSGS>S			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	92					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GCTCACgctactgccgctgctgccgctgc	0.746														1412	0.281949	0.2428	0.317	5008	,	,		9854	0.2659		0.3141	False		,,,				2504	0.2935				Colon(84;110 1851 5306 33547)												0								ENSG00000143772			530,2426		156,218,1104						0.6	1.0		dbSNP_120	7	1381,4925		379,623,2151	no	coding	ITPKB	NM_002221.3		535,841,3255	A1A1,A1R,RR		21.8998,17.9296,20.6327				1911,7351				ITPKB	SO:0001651	inframe_deletion	0				HGNC	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.276_284delCAGCGGCAG	1.37:g.226924885_226924893delCTGCCGCTG	ENSP00000272117:p.Ser92_Gly94del	Somatic	NA	NA	NA		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_IPK	p.GSS94in_frame_del	ENST00000272117.3	37	c.284_276	CCDS1555.1	1																																																																																			-	NULL		0.746	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPKB	protein_coding	OTTHUMT00000091632.1	CTGCCGCTG	NM_002221			226924884	-1	no_errors	ENST00000272117	ensembl	human	known	74_37	in_frame_del	DEL	0.902:0.650:0.630:0.440:0.081:0.083:0.088:0.089:0.091	-
APOB	338	genome.wustl.edu	37	2	21231996	21231996	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr2:21231996delC	ENST00000233242.1	-	26	7871	c.7744delG	c.(7744-7746)gagfs	p.E2582fs		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2582					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACCCTTGCTCTACCAATGCT	0.453																																																	0								ENSG00000084674						110.0	101.0	104.0					2																	21231996		2203	4299	6502	APOB	SO:0001589	frameshift_variant	0				HGNC	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.7744delG	2.37:g.21231996delC	ENSP00000233242:p.Glu2582fs	Somatic	0	21	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	3	87.50	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.E2582fs	ENST00000233242.1	37	c.7744	CCDS1703.1	2																																																																																			-	NULL		0.453	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	protein_coding	OTTHUMT00000207571.1	C				21231996	-1	no_errors	ENST00000233242	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-
RIMS1	22999	genome.wustl.edu	37	6	73043425	73043425	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr6:73043425C>G	ENST00000521978.1	+	29	4253	c.4253C>G	c.(4252-4254)aCa>aGa	p.T1418R	RIMS1_ENST00000401910.3_Missense_Mutation_p.T738R|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000491071.2_Missense_Mutation_p.T1241R|RIMS1_ENST00000538414.1_Missense_Mutation_p.T224R|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000517960.1_Missense_Mutation_p.T1201R|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000264839.7_Missense_Mutation_p.T1267R|RIMS1_ENST00000348717.5_Missense_Mutation_p.T1201R	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1418					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CAGTCAGACACAGCTGTGGGT	0.527																																																	0								ENSG00000079841						61.0	68.0	66.0					6																	73043425		2062	4194	6256	RIMS1	SO:0001583	missense	0			-	HGNC	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.4253C>G	6.37:g.73043425C>G	ENSP00000428417:p.Thr1418Arg	Somatic	0	59	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	97	10.19	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.T1418R	ENST00000521978.1	37	c.4253	CCDS47449.1	6	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	27.2|27.2|27.2	4.806808|4.806808|4.806808	0.90623|0.90623|0.90623	.|.|.	.|.|.	ENSG00000079841|ENSG00000079841|ENSG00000079841	ENST00000517433|ENST00000522211|ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000264839;ENST00000517960;ENST00000521978;ENST00000401910;ENST00000453976;ENST00000370420;ENST00000538414	.|.|T;T;T;T;T;T;T;T;T	.|.|0.23950	.|.|2.11;2.45;2.24;2.45;2.18;2.31;2.18;1.88;1.89	5.66|5.66|5.66	5.66|5.66|5.66	0.87406|0.87406|0.87406	.|.|.	.|.|0.000000	.|.|0.64402	.|.|D	.|.|0.000003	T|T|T	0.43656|0.43656|0.43656	0.1257|0.1257|0.1257	L|L|L	0.58101|0.58101|0.58101	1.795|1.795|1.795	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;D;D;D;D;D;D	.|.|0.76494	.|.|0.992;0.998;0.999;0.998;0.999;0.999;0.998	.|.|P;D;D;D;D;D;D	.|.|0.80764	.|.|0.838;0.99;0.986;0.991;0.994;0.994;0.986	T|T|T	0.26849|0.26849|0.26849	-1.0091|-1.0091|-1.0091	5|5|10	.|.|0.72032	.|.|D	.|.|0.01	-18.3136|-18.3136|-18.3136	20.1225|20.1225|20.1225	0.97967|0.97967|0.97967	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|224;1267;738;1201;494;1241;1418	.|.|B7Z7W2;E9PHR1;E9PF48;E7ENC2;Q5JY21;C9JNW6;Q86UR5	.|.|.;.;.;.;.;.;RIMS1_HUMAN	Q|E|R	763|336|1241;1267;1241;1201;1267;1201;1418;738;583;466;224	.|.|ENSP00000430101:T1241R;ENSP00000275037:T1201R;ENSP00000264839:T1267R;ENSP00000429959:T1201R;ENSP00000428417:T1418R;ENSP00000385649:T738R;ENSP00000389503:T583R;ENSP00000359448:T466R;ENSP00000439730:T224R	.|.|ENSP00000264839:T1267R	H|Q|T	+|+|+	3|1|2	2|0|0	RIMS1|RIMS1|RIMS1	73100146|73100146|73100146	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.993000|0.993000|0.993000	0.49108|0.49108|0.49108	0.978000|0.978000|0.978000	0.69477|0.69477|0.69477	7.776000|7.776000|7.776000	0.85560|0.85560|0.85560	2.831000|2.831000|2.831000	0.97527|0.97527|0.97527	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	CAC|CAG|ACA	-	NULL		0.527	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	protein_coding	OTTHUMT00000374968.1	C		-		73043425	+1	no_errors	ENST00000521978	ensembl	human	known	74_37	missense	SNP	1.000	G
PLS3	5358	genome.wustl.edu	37	X	114863597	114863597	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chrX:114863597A>T	ENST00000420625.2	+	4	459	c.325A>T	c.(325-327)Act>Tct	p.T109S	PLS3_ENST00000537301.1_Missense_Mutation_p.T87S|PLS3_ENST00000355899.3_Missense_Mutation_p.T109S|PLS3_ENST00000539310.1_Missense_Mutation_p.T64S|PLS3_ENST00000289290.3_Missense_Mutation_p.T64S	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	109	Actin-binding 1.				bone development (GO:0060348)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						TCTGGGTGGAACTTCAGAGTT	0.383																																					Colon(160;1047 1864 8490 12969 29601)												0								ENSG00000102024						131.0	115.0	121.0					X																	114863597		2203	4300	6503	PLS3	SO:0001583	missense	0			-	HGNC	L05491	CCDS14568.1, CCDS65312.1	Xq23	2013-01-10	2010-02-10		ENSG00000102024	ENSG00000102024		"""EF-hand domain containing"""	9091	protein-coding gene	gene with protein product		300131	"""plastin 3 (T isoform)"""			8428952	Standard	NM_005032		Approved	T-plastin	uc004eqe.3	P13797	OTTHUMG00000022237	ENST00000420625.2:c.325A>T	X.37:g.114863597A>T	ENSP00000398945:p.Thr109Ser	Somatic	0	53	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	51	67	43.22	A8K579|B1AQ09|B4DGB4|B7Z6M1|Q86YI6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_dom,smart_CH-domain,pfscan_CH-domain,pfscan_EF_hand_dom	p.T109S	ENST00000420625.2	37	c.325	CCDS14568.1	X	.	.	.	.	.	.	.	.	.	.	A	17.38	3.375447	0.61735	.	.	ENSG00000102024	ENST00000355899;ENST00000537301;ENST00000289290;ENST00000420625;ENST00000539310	T;D;T;T;T	0.83914	-0.46;-1.78;0.93;-0.46;0.93	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.84875	0.5569	M	0.64997	1.995	0.80722	D	1	P;B;B	0.49090	0.919;0.212;0.212	P;B;B	0.51453	0.67;0.094;0.058	D	0.84435	0.0579	10	0.39692	T	0.17	-16.8087	12.4048	0.55432	1.0:0.0:0.0:0.0	.	82;87;109	B4DPW9;B4DGB4;P13797	.;.;PLST_HUMAN	S	109;87;64;109;64	ENSP00000348163:T109S;ENSP00000445105:T87S;ENSP00000289290:T64S;ENSP00000398945:T109S;ENSP00000445339:T64S	ENSP00000289290:T64S	T	+	1	0	PLS3	114769853	1.000000	0.71417	0.986000	0.45419	0.882000	0.50991	7.116000	0.77119	1.806000	0.52798	0.481000	0.45027	ACT	-	NULL		0.383	PLS3-201	KNOWN	basic|CCDS	protein_coding	PLS3	protein_coding	OTTHUMT00000057976.2	A		-		114863597	+1	no_errors	ENST00000355899	ensembl	human	known	74_37	missense	SNP	1.000	T
TMEM44	93109	genome.wustl.edu	37	3	194353772	194353773	+	Intron	INS	-	-	CCGCCCGACAG	rs11273892|rs78196807	byFrequency	TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr3:194353772_194353773insCCGCCCGACAG	ENST00000392432.2	-	1	343				TMEM44_ENST00000347147.4_Intron|TMEM44_ENST00000273580.7_Intron|TMEM44_ENST00000330115.3_Intron|TMEM44_ENST00000473092.1_Intron|TMEM44_ENST00000381975.3_Intron|AC046143.3_ENST00000447139.1_RNA	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44							integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		CGCCCGTTTCCCCGCCCGACAG	0.653														3578	0.714457	0.7632	0.621	5008	,	,		10280	0.6905		0.7674	False		,,,				2504	0.6851																0								ENSG00000229334		,,,	2118,906		906,306,300					,,,	2.1	0.0		dbSNP_120	6	4108,1674		1774,560,557	no	intron,intron,intron,intron	TMEM44	NM_138399.4,NM_001166306.1,NM_001166305.1,NM_001011655.2	,,,	2680,866,857	A1A1,A1R,RR		28.9519,29.9603,29.2982	,,,	,,,		6226,2580				AC046143.3	SO:0001627	intron_variant	0				Clone_based_vega_gene	AL833026	CCDS3308.1, CCDS33921.1, CCDS3308.2, CCDS54698.1, CCDS54699.1	3q29	2005-08-16			ENSG00000145014	ENSG00000145014			25120	protein-coding gene	gene with protein product							Standard	NM_138399		Approved	DKFZp686O18124	uc010hzn.3	Q2T9K0	OTTHUMG00000156023	ENST00000392432.2:c.137+34->CTGTCGGGCGG	3.37:g.194353773_194353783dupCCGCCCGACAG		Somatic	NA	NA	NA		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A1L3V7|B7ZLZ5|B7ZLZ6|C9JJ62|E9PGA9|Q0P6F7|Q6ZT47|Q8IXR1|Q8N4G3	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000392432.2	37	NULL	CCDS54699.1	3																																																																																			-	-		0.653	TMEM44-002	KNOWN	basic|CCDS	protein_coding	ENSG00000229334	protein_coding	OTTHUMT00000342750.1	-	NM_138399			194353773	+1	no_errors	ENST00000447139	ensembl	human	known	74_37	rna	INS	0.030:0.049	CCGCCCGACAG
RELN	5649	genome.wustl.edu	37	7	103629803	103629804	+	Start_Codon_Ins	INS	-	-	GCCGCC	rs587780434|rs55656324|rs536610894	byFrequency	TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr7:103629803_103629804insGCCGCC	ENST00000428762.1	-	0	159_160				RELN_ENST00000424685.2_Start_Codon_Ins|RELN_ENST00000343529.5_Start_Codon_Ins	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin						associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGCGCTCCATgccgccgccgc	0.723														3026	0.604233	0.469	0.5663	5008	,	,		7030	0.8185		0.4732	False		,,,				2504	0.728				NSCLC(146;835 1944 15585 22231 52158)												0								ENSG00000189056																																			RELN	SO:0001582	initiator_codon_variant	0				HGNC		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.-4_1dupGGCGGC	7.37:g.103629804_103629809dupGCCGCC		Somatic	NA	NA	NA		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	In_Frame_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.0in_frame_insGG	ENST00000428762.1	37	c.1_2	CCDS47680.1	7																																																																																			-	NULL		0.723	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	protein_coding	OTTHUMT00000348148.1	-	NM_005045			103629804	-1	no_errors	ENST00000424685	ensembl	human	known	74_37	in_frame_ins	INS	1.000:1.000	GCCGCC
TSHZ2	128553	genome.wustl.edu	37	20	51870593	51870593	+	Missense_Mutation	SNP	G	G	A	rs139565246	byFrequency	TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr20:51870593G>A	ENST00000371497.5	+	2	1483	c.596G>A	c.(595-597)cGa>cAa	p.R199Q	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.R196Q|TSHZ2_ENST00000603338.2_Missense_Mutation_p.R196Q	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	199					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CAGTTGTACCGACAGAGCAGC	0.577																																																	0								ENSG00000182463	G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	61.0	58.0	59.0		587,596	5.2	1.0	20	dbSNP_134	59	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense	TSHZ2	NM_001193421.1,NM_173485.5	43,43	0,6,6497	AA,AG,GG		0.0581,0.0227,0.0461	probably-damaging,probably-damaging	196/1032,199/1035	51870593	6,13000	2203	4300	6503	TSHZ2	SO:0001583	missense	0			-	HGNC	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.596G>A	20.37:g.51870593G>A	ENSP00000360552:p.Arg199Gln	Somatic	0	51	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	59	47	55.66	B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.R199Q	ENST00000371497.5	37	c.596	CCDS33490.1	20	.	.	.	.	.	.	.	.	.	.	G	34	5.338393	0.95783	2.27E-4	5.81E-4	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.24538	1.85;1.85	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.50137	0.1598	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.50566	-0.8813	10	0.87932	D	0	-11.1601	19.0899	0.93223	0.0:0.0:1.0:0.0	.	199	Q9NRE2	TSH2_HUMAN	Q	199;196	ENSP00000360552:R199Q;ENSP00000333114:R196Q	ENSP00000333114:R196Q	R	+	2	0	TSHZ2	51304000	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.414000	0.97362	2.579000	0.87056	0.643000	0.83706	CGA	-	NULL		0.577	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ2	protein_coding	OTTHUMT00000080398.6	G	NM_173485	rs139565246		51870593	+1	no_errors	ENST00000371497	ensembl	human	known	74_37	missense	SNP	1.000	A
ZAN	7455	genome.wustl.edu	37	7	100364861	100364861	+	RNA	SNP	T	T	C			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr7:100364861T>C	ENST00000348028.3	+	0	5006				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ATCTCACTGCTCAGAGGCTGT	0.592																																																	0								ENSG00000146839						48.0	49.0	49.0					7																	100364861		2131	4227	6358	ZAN			0			-	HGNC	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100364861T>C		Somatic	0	62	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	51	41.38	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.L1614P	ENST00000348028.3	37	c.4841		7	.	.	.	.	.	.	.	.	.	.	T	13.00	2.106636	0.37145	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	4.63	4.63	0.57726	von Willebrand factor, type D domain (3);	1.157700	0.06636	N	0.760074	T	0.57873	0.2083	M	0.62088	1.915	0.43360	D	0.99543	B;B	0.27013	0.138;0.166	B;B	0.28638	0.037;0.092	T	0.44128	-0.9348	10	0.31617	T	0.26	.	10.9797	0.47486	0.0:0.0:0.0:1.0	.	1614;1614	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	1614;1614;1614;191	ENSP00000445943:L1614P;ENSP00000445091:L1614P;ENSP00000444427:L1614P;ENSP00000441117:L191P	ENSP00000423579:L1614P	L	+	2	0	ZAN	100202797	0.004000	0.15560	0.741000	0.31004	0.254000	0.26022	0.295000	0.19065	2.035000	0.60131	0.459000	0.35465	CTC	-	pfam_VWF_type-D,smart_VWF_type-D		0.592	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	polymorphic_pseudogene	OTTHUMT00000347214.1	T	NM_003386	-		100364861	+1	no_errors	ENST00000546292	ensembl	human	known	74_37	missense	SNP	0.774	C
MEST	4232	genome.wustl.edu	37	7	130140375	130140375	+	Splice_Site	DEL	T	T	-			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr7:130140375delT	ENST00000223215.4	+	8	868		c.e8+2		MEST_ENST00000341441.5_Splice_Site|MEST_ENST00000393187.1_Splice_Site|MEST_ENST00000378576.4_Splice_Site|hsa-mir-335_ENST00000604666.1_RNA|MEST_ENST00000416162.2_Splice_Site|MEST_ENST00000462132.1_Splice_Site|MEST_ENST00000437945.1_Splice_Site	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript						mesoderm development (GO:0007498)|regulation of lipid storage (GO:0010883)|response to retinoic acid (GO:0032526)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					CTCTCGAGGGTAAGTGTCACT	0.443																																					Colon(126;2182 2305 6517 35181)												0								ENSG00000106484						73.0	63.0	66.0					7																	130140375		2203	4300	6503	MEST	SO:0001630	splice_region_variant	0				HGNC		CCDS5822.1, CCDS5823.1, CCDS59081.1	7q32	2014-08-22	2012-12-07		ENSG00000106484	ENSG00000106484			7028	protein-coding gene	gene with protein product	"""Paternally-expressed gene 1"""	601029	"""mesoderm specific transcript (mouse) homolog"", ""mesoderm specific transcript homolog (mouse)"""			8884280	Standard	NM_002402		Approved	PEG1	uc003vqg.3	Q5EB52	OTTHUMG00000156661	ENST00000223215.4:c.647+2T>-	7.37:g.130140375delT		Somatic	0	46	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	57	42.42	B2R6S1|O14973|O15007|Q6AI49|Q92571	Splice_Site	DEL	NA	NA	NA	NA	NA	NA	-	e8+2	ENST00000223215.4	37	c.647+2	CCDS5822.1	7																																																																																			-	-		0.443	MEST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEST	protein_coding	OTTHUMT00000345183.2	T	NM_002402		Intron	130140375	+1	no_errors	ENST00000223215	ensembl	human	known	74_37	splice_site_del	DEL	1.000	-
SYNCRIP	10492	genome.wustl.edu	37	6	86333723	86333723	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr6:86333723C>G	ENST00000369622.3	-	7	1274	c.774G>C	c.(772-774)caG>caC	p.Q258H	SYNCRIP_ENST00000355238.6_Missense_Mutation_p.Q258H	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	258	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		CTTCAAGAATCTGTTCCTTGG	0.353																																																	0								ENSG00000135316						106.0	103.0	104.0					6																	86333723		2203	4300	6503	SYNCRIP	SO:0001583	missense	0			-	HGNC	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.774G>C	6.37:g.86333723C>G	ENSP00000358635:p.Gln258His	Somatic	0	55	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	55	61	47.41	E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.Q258H	ENST00000369622.3	37	c.774	CCDS5005.1	6	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671765	0.47781	.	.	ENSG00000135316	ENST00000355238;ENST00000369622	T;T	0.17213	2.29;2.29	5.85	3.14	0.36123	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.12774	0.0310	L	0.33293	1	0.51012	D	0.999908	P;D;B;P;D;P;P	0.58268	0.73;0.982;0.298;0.671;0.961;0.683;0.844	P;P;B;P;P;B;P	0.58013	0.491;0.831;0.229;0.51;0.725;0.358;0.491	T	0.02167	-1.1202	10	0.87932	D	0	.	9.109	0.36716	0.0:0.6366:0.0:0.3634	.	258;258;160;106;258;258;258	O60506;O60506-2;B7Z645;O60506-5;O60506-4;O60506-3;B2R8Z8	HNRPQ_HUMAN;.;.;.;.;.;.	H	258	ENSP00000347380:Q258H;ENSP00000358635:Q258H	ENSP00000347380:Q258H	Q	-	3	2	SYNCRIP	86390442	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	0.767000	0.26575	0.390000	0.25115	-0.252000	0.11476	CAG	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac		0.353	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNCRIP	protein_coding	OTTHUMT00000041396.1	C	NM_006372	-		86333723	-1	no_errors	ENST00000369622	ensembl	human	known	74_37	missense	SNP	1.000	G
HELZ2	85441	genome.wustl.edu	37	20	62202614	62202614	+	Intron	SNP	C	C	T	rs76623277|rs111600442	byFrequency	TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr20:62202614C>T	ENST00000467148.1	-	2	348				HELZ2_ENST00000479540.1_5'UTR	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator						cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GCTCCTGCCCCGCTCCAAGCT	0.692																																																	0								ENSG00000130589																																			HELZ2	SO:0001627	intron_variant	0			-	HGNC	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.279-393G>A	20.37:g.62202614C>T		Somatic	0	32	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	76	8.43	Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000467148.1	37	NULL	CCDS33508.1	20																																																																																			-	-		0.692	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	protein_coding	OTTHUMT00000354127.1	C	NM_001037335	rs111600442		62202614	-1	no_errors	ENST00000479540	ensembl	human	known	74_37	rna	SNP	0.429	T
PKHD1L1	93035	genome.wustl.edu	37	8	110499030	110499030	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr8:110499030delA	ENST00000378402.5	+	59	9964	c.9860delA	c.(9859-9861)gaafs	p.E3287fs		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3287					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCATTCACTGAAAATATGATG	0.368										HNSCC(38;0.096)																																							0								ENSG00000205038						204.0	199.0	201.0					8																	110499030		1909	4106	6015	PKHD1L1	SO:0001589	frameshift_variant	0				HGNC	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.9860delA	8.37:g.110499030delA	ENSP00000367655:p.Glu3287fs	Somatic	0	82	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	82	100	45.05	Q567P2|Q9UF27	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.N3288fs	ENST00000378402.5	37	c.9860	CCDS47911.1	8																																																																																			-	superfamily_Pectin_lyase_fold/virulence		0.368	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	protein_coding	OTTHUMT00000381017.1	A	NM_177531			110499030	+1	no_errors	ENST00000378402	ensembl	human	known	74_37	frame_shift_del	DEL	0.077	-
PCDH19	57526	genome.wustl.edu	37	X	99662489	99662489	+	Silent	SNP	G	G	C	rs199879056		TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chrX:99662489G>C	ENST00000373034.4	-	1	2782	c.1107C>G	c.(1105-1107)gcC>gcG	p.A369A	PCDH19_ENST00000255531.7_Silent_p.A369A|PCDH19_ENST00000420881.2_Silent_p.A369A	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	369	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CCCGCACCAAGGCGATCACGT	0.587																																																	0								ENSG00000165194						52.0	55.0	54.0					X																	99662489		2192	4265	6457	PCDH19	SO:0001819	synonymous_variant	0			-	HGNC	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1107C>G	X.37:g.99662489G>C		Somatic	0	24	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	39	36.07	B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A369	ENST00000373034.4	37	c.1107	CCDS55462.1	X																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.587	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH19	protein_coding	OTTHUMT00000057479.2	G	NM_020766	-		99662489	-1	no_errors	ENST00000373034	ensembl	human	known	74_37	silent	SNP	0.312	C
PRKD3	23683	genome.wustl.edu	37	2	37483997	37483997	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr2:37483997C>T	ENST00000379066.1	-	17	2983	c.2221G>A	c.(2221-2223)Gca>Aca	p.A741T	PRKD3_ENST00000234179.2_Missense_Mutation_p.A741T			O94806	KPCD3_HUMAN	protein kinase D3	741	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				GCTAAGTATGCTGGAGTTCCT	0.453																																					Melanoma(80;621 1355 8613 11814 51767)												0								ENSG00000115825						132.0	125.0	128.0					2																	37483997		2203	4300	6503	PRKD3	SO:0001583	missense	0			-	HGNC	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.2221G>A	2.37:g.37483997C>T	ENSP00000368356:p.Ala741Thr	Somatic	0	56	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	56	51	52.34	D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.A741T	ENST00000379066.1	37	c.2221	CCDS1789.1	2	.	.	.	.	.	.	.	.	.	.	C	28.8	4.947480	0.92593	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	T;T	0.64991	-0.13;-0.13	5.34	5.34	0.76211	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.63965	0.2556	N	0.10685	0.025	0.80722	D	1	D	0.55172	0.97	D	0.69479	0.964	T	0.71185	-0.4667	10	0.51188	T	0.08	-15.9728	19.0616	0.93095	0.0:1.0:0.0:0.0	.	741	O94806	KPCD3_HUMAN	T	741	ENSP00000368356:A741T;ENSP00000234179:A741T	ENSP00000234179:A741T	A	-	1	0	PRKD3	37337501	1.000000	0.71417	0.999000	0.59377	0.929000	0.56500	7.776000	0.85560	2.499000	0.84300	0.591000	0.81541	GCA	-	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		0.453	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKD3	protein_coding	OTTHUMT00000218570.3	C	NM_005813	-		37483997	-1	no_errors	ENST00000234179	ensembl	human	known	74_37	missense	SNP	1.000	T
PLXNA2	5362	genome.wustl.edu	37	1	208200207	208200207	+	3'UTR	SNP	T	T	C			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr1:208200207T>C	ENST00000367033.3	-	0	6823				PLXNA2_ENST00000483048.1_5'UTR	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2						axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TCTGTTTTTTTCCCTTTTTCT	0.358																																																	0								ENSG00000076356																																			PLXNA2	SO:0001624	3_prime_UTR_variant	0			-	HGNC	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.*381A>G	1.37:g.208200207T>C		Somatic	0	106	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	130	292	30.81	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000367033.3	37	NULL	CCDS31013.1	1																																																																																			-	-		0.358	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	protein_coding	OTTHUMT00000088932.6	T	NM_025179	-		208200207	-1	no_errors	ENST00000483048	ensembl	human	known	74_37	rna	SNP	0.866	C
AR	367	genome.wustl.edu	37	X	66765155	66765155	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chrX:66765155T>A	ENST00000374690.3	+	1	691	c.167T>A	c.(166-168)cTg>cAg	p.L56Q	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.L56Q|AR_ENST00000504326.1_Missense_Mutation_p.L56Q	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	56	Modulating.|Poly-Leu.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	AGTTTGCTGCTGCTgcagcag	0.662									Androgen Insensitivity Syndrome																																								0								ENSG00000169083						10.0	13.0	12.0					X																	66765155		2155	4231	6386	AR	SO:0001583	missense	0	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	-	HGNC	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.167T>A	X.37:g.66765155T>A	ENSP00000363822:p.Leu56Gln	Somatic	0	57	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	70	9.09	A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt	p.L56Q	ENST00000374690.3	37	c.167	CCDS14387.1	X	.	.	.	.	.	.	.	.	.	.	N	8.315	0.823004	0.16678	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.59224	0.28;0.28;0.28	.	.	.	.	0.160911	0.29861	N	0.011003	T	0.42854	0.1221	N	0.02539	-0.55	0.09310	N	0.999999	B;B;D	0.76494	0.001;0.002;0.999	B;B;D	0.87578	0.0;0.0;0.998	T	0.42172	-0.9467	8	0.22109	T	0.4	.	.	.	.	.	56;56;54	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	Q	56	ENSP00000363822:L56Q;ENSP00000421155:L56Q;ENSP00000379359:L56Q	ENSP00000363822:L56Q	L	+	2	0	AR	66681880	1.000000	0.71417	0.901000	0.35422	0.483000	0.33249	0.417000	0.21214	0.000000	0.14550	0.000000	0.15137	CTG	-	pfam_Andrgn_rcpt		0.662	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	protein_coding	OTTHUMT00000057007.1	T	NM_000044	-		66765155	+1	no_errors	ENST00000374690	ensembl	human	known	74_37	missense	SNP	0.942	A
LOC642361	642361	genome.wustl.edu	37	10	81586763	81586764	+	lincRNA	INS	-	-	TCGCCTCGCC	rs376141844|rs564141310|rs57348880	byFrequency	TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr10:81586763_81586764insTCGCCTCGCC	ENST00000605920.1	+	0	1106_1107				RP11-773D16.1_ENST00000495430.1_lincRNA	NR_029407.1|NR_029408.1																						CCTCGCTCACGTCGCCTCGCCT	0.708														3577	0.714257	0.5431	0.732	5008	,	,		8252	0.8155		0.8698	False		,,,				2504	0.6687																0								ENSG00000272447																																			RP11-182L21.6			0				Clone_based_vega_gene																													10.37:g.81586764_81586773dupTCGCCTCGCC		Somatic	NA	NA	NA		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000605920.1	37	NULL		10																																																																																			-	-		0.708	RP11-182L21.6-001	KNOWN	basic	lincRNA	LOC642361	lincRNA	OTTHUMT00000470940.1	-				81586764	+1	no_errors	ENST00000605920	ensembl	human	known	74_37	rna	INS	0.302:0.319	TCGCCTCGCC
DEFB107A	245910	genome.wustl.edu	37	8	7673081	7673081	+	Splice_Site	SNP	C	C	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr8:7673081C>T	ENST00000335021.2	-	1	157	c.70G>A	c.(70-72)Gcc>Acc	p.A24T		NM_001037668.1	NP_001032757.2	Q8IZN7	D107A_HUMAN	defensin, beta 107A	24					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)									COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		TCCCTCTTACCTTGGAAAATT	0.408																																																	0								ENSG00000186572						3.0	3.0	3.0					8																	7673081		1186	2662	3848	DEFB107A	SO:0001630	splice_region_variant	0			-	HGNC	AF540979	CCDS43699.1	8p23.1	2011-03-29		2005-02-25	ENSG00000186572	ENSG00000186572		"""Defensins, beta"""	18086	protein-coding gene	gene with protein product				DEFB107		11854508	Standard	NM_001037668		Approved	DEFB-7	uc003wrq.1	Q8IZN7	OTTHUMG00000150013	ENST00000335021.2:c.70+1G>A	8.37:g.7673081C>T		Somatic	0	54	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	95	13.64	B2RPM1|Q30E75|Q8NET2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.A24T	ENST00000335021.2	37	c.70	CCDS43699.1	8	.	.	.	.	.	.	.	.	.	.	.	14.43	2.532953	0.45073	.	.	ENSG00000186572	ENST00000335021	.	.	.	2.78	2.78	0.32641	.	0.199701	0.25030	N	0.033699	T	0.35595	0.0937	.	.	.	0.27323	N	0.95699	.	.	.	.	.	.	T	0.15607	-1.0431	5	.	.	.	-1.585	9.2208	0.37375	0.0:1.0:0.0:0.0	.	.	.	.	T	24	.	.	A	-	1	0	DEFB107A	7710491	1.000000	0.71417	0.997000	0.53966	0.467000	0.32768	2.355000	0.44107	1.876000	0.54355	0.609000	0.83330	GCC	-	NULL		0.408	DEFB107A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB107A	protein_coding	OTTHUMT00000315760.1	C		-	Missense_Mutation	7673081	-1	no_errors	ENST00000335021	ensembl	human	known	74_37	missense	SNP	0.998	T
TP53	7157	genome.wustl.edu	37	17	7578457	7578457	+	Missense_Mutation	SNP	C	C	T	rs587782144		TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr17:7578457C>T	ENST00000269305.4	-	5	662	c.473G>A	c.(472-474)cGc>cAc	p.R158H	TP53_ENST00000413465.2_Missense_Mutation_p.R158H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R158H|TP53_ENST00000359597.4_Missense_Mutation_p.R158H|TP53_ENST00000445888.2_Missense_Mutation_p.R158H|TP53_ENST00000420246.2_Missense_Mutation_p.R158H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	158	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R158L(77)|p.R158H(74)|p.R158P(9)|p.R65L(8)|p.0?(8)|p.R26L(8)|p.R158fs(6)|p.R158fs*11(6)|p.R65H(5)|p.R26H(5)|p.R158_A159insX(4)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.R158C(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCCATGGCGCGGACGCGGGT	0.627		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	244	Substitution - Missense(188)|Deletion - Frameshift(19)|Deletion - In frame(13)|Complex(10)|Whole gene deletion(8)|Insertion - In frame(4)|Complex - frameshift(2)	lung(78)|central_nervous_system(33)|oesophagus(20)|haematopoietic_and_lymphoid_tissue(19)|large_intestine(18)|upper_aerodigestive_tract(12)|stomach(12)|urinary_tract(9)|prostate(7)|kidney(6)|liver(6)|breast(5)|bone(4)|soft_tissue(3)|ovary(3)|pancreas(3)|thyroid(2)|biliary_tract(2)|vulva(1)|thymus(1)	GRCh37	CM994513	TP53	M		ENSG00000141510						49.0	51.0	50.0					17																	7578457		2203	4300	6503	TP53	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	-	HGNC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.473G>A	17.37:g.7578457C>T	ENSP00000269305:p.Arg158His	Somatic	0	31	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	9	80.00	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R158H	ENST00000269305.4	37	c.473	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306299	0.40795	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.59	4.63	0.57726	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110116	0.64402	D	0.000010	D	0.99809	0.9917	M	0.77486	2.375	0.58432	D	0.999999	D;P;D;D;P;P;D	0.89917	0.998;0.631;0.984;0.982;0.831;0.48;1.0	P;B;P;P;P;B;D	0.97110	0.907;0.274;0.76;0.751;0.516;0.242;1.0	D	0.96738	0.9544	10	0.87932	D	0	-10.4795	12.6491	0.56751	0.0:0.9196:0.0:0.0804	.	119;158;158;65;158;158;158	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	158;158;158;158;158;158;147;65;26;65;26;158	ENSP00000410739:R158H;ENSP00000352610:R158H;ENSP00000269305:R158H;ENSP00000398846:R158H;ENSP00000391127:R158H;ENSP00000391478:R158H;ENSP00000425104:R26H;ENSP00000423862:R65H;ENSP00000424104:R158H	ENSP00000269305:R158H	R	-	2	0	TP53	7519182	1.000000	0.71417	0.034000	0.17996	0.175000	0.22909	7.775000	0.85489	1.514000	0.48869	-0.140000	0.14226	CGC	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	-		7578457	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	0.989	T
RNF212	285498	genome.wustl.edu	37	4	1087327	1087328	+	Intron	INS	-	-	CTGCCCAGGCTGGAGCCAGCC	rs376912904|rs386670461|rs142232513|rs539986150|rs138488801	byFrequency	TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr4:1087327_1087328insCTGCCCAGGCTGGAGCCAGCC	ENST00000433731.2	-	4	308				RNF212_ENST00000382968.5_Intron|RNF212_ENST00000333673.5_In_Frame_Ins_p.241_241S>WLAPAWAA			Q495C1	RN212_HUMAN	ring finger protein 212						chiasma assembly (GO:0051026)|meiotic gene conversion (GO:0006311)|protein sumoylation (GO:0016925)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		CAGAGCCTGTGACCTCCACGGC	0.619																																																	0								ENSG00000178222																																			RNF212	SO:0001627	intron_variant	0				HGNC	AK096160	CCDS3345.1, CCDS46996.1, CCDS54704.1	4p16.3	2013-02-27	2007-01-19	2007-01-19	ENSG00000178222	ENSG00000178222		"""RING-type (C3HC4) zinc fingers"""	27729	protein-coding gene	gene with protein product		612041	"""hypothetical protein LOC285498"""	LOC285498		23396135	Standard	NM_001131034		Approved	FLJ38841	uc003gcj.3	Q495C1	OTTHUMG00000118997	ENST00000433731.2:c.247-2701->GGCTGGCTCCAGCCTGGGCAG	4.37:g.1087327_1087328insCTGCCCAGGCTGGAGCCAGCC		Somatic	NA	NA	NA		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	C9J8N0|Q495C0|Q86W82|Q8IY99|Q8N8U7	In_Frame_Ins	INS	NA	NA	NA	NA	NA	NA	pfscan_Znf_RING	p.S241in_frame_insWLAPAWAA	ENST00000433731.2	37	c.722_721	CCDS46996.1	4																																																																																			-	NULL		0.619	RNF212-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RNF212	protein_coding	OTTHUMT00000359124.2	-	NM_194439			1087328	-1	no_errors	ENST00000333673	ensembl	human	known	74_37	in_frame_ins	INS	0.085:0.000	CTGCCCAGGCTGGAGCCAGCC
PCNT	5116	genome.wustl.edu	37	21	47848501	47848501	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr21:47848501C>T	ENST00000359568.5	+	35	7794	c.7687C>T	c.(7687-7689)Cag>Tag	p.Q2563*	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2563					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GCTGCGCAGGCAGGGTGGGTG	0.682																																																	0								ENSG00000160299						11.0	12.0	11.0					21																	47848501		2177	4281	6458	PCNT	SO:0001587	stop_gained	0			-	HGNC	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.7687C>T	21.37:g.47848501C>T	ENSP00000352572:p.Gln2563*	Somatic	0	12	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	10	52.38	O43152|Q7Z7C9	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_PACT_domain	p.Q2563*	ENST00000359568.5	37	c.7687	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	C	48	14.834946	0.99812	.	.	ENSG00000160299	ENST00000359568	.	.	.	4.51	3.61	0.41365	.	0.602111	0.12668	N	0.449003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	12.2676	0.54686	0.3227:0.6773:0.0:0.0	.	.	.	.	X	2563	.	ENSP00000352572:Q2563X	Q	+	1	0	PCNT	46672929	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	3.045000	0.49838	1.170000	0.42753	0.563000	0.77884	CAG	-	NULL		0.682	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	protein_coding	OTTHUMT00000207336.1	C	NM_006031	-		47848501	+1	no_errors	ENST00000359568	ensembl	human	known	74_37	nonsense	SNP	1.000	T
APOB	338	genome.wustl.edu	37	2	21231998	21231998	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr2:21231998A>T	ENST00000233242.1	-	26	7869	c.7742T>A	c.(7741-7743)gTa>gAa	p.V2581E		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2581					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCTTGCTCTACCAATGCTTT	0.448																																																	0								ENSG00000084674						110.0	101.0	104.0					2																	21231998		2203	4299	6502	APOB	SO:0001583	missense	0			-	HGNC	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.7742T>A	2.37:g.21231998A>T	ENSP00000233242:p.Val2581Glu	Somatic	0	21	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	1	88.00	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.V2581E	ENST00000233242.1	37	c.7742	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	A	15.20	2.762377	0.49468	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00986	5.47	5.16	5.16	0.70880	.	0.264810	0.26499	N	0.024023	T	0.03305	0.0096	M	0.62723	1.935	0.80722	D	1	D	0.61080	0.989	P	0.55087	0.768	T	0.50145	-0.8862	10	0.87932	D	0	.	15.0185	0.71609	1.0:0.0:0.0:0.0	.	2581	P04114	APOB_HUMAN	E	2581	ENSP00000233242:V2581E	ENSP00000233242:V2581E	V	-	2	0	APOB	21085503	0.974000	0.33945	0.978000	0.43139	0.602000	0.36980	4.975000	0.63777	1.948000	0.56530	0.459000	0.35465	GTA	-	NULL		0.448	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	protein_coding	OTTHUMT00000207571.1	A		-		21231998	-1	no_errors	ENST00000233242	ensembl	human	known	74_37	missense	SNP	0.991	T
CD163	9332	genome.wustl.edu	37	12	7640492	7640492	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr12:7640492C>A	ENST00000359156.4	-	7	1814	c.1612G>T	c.(1612-1614)Gga>Tga	p.G538*	CD163_ENST00000396620.3_Nonsense_Mutation_p.G538*|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000432237.2_Nonsense_Mutation_p.G538*|CD163_ENST00000541972.1_Nonsense_Mutation_p.G526*	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	538	SRCR 5. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CAGATCTGTCCATTTCCCTCT	0.537																																																	0								ENSG00000177575						99.0	86.0	91.0					12																	7640492		2203	4300	6503	CD163	SO:0001587	stop_gained	0			-	HGNC	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1612G>T	12.37:g.7640492C>A	ENSP00000352071:p.Gly538*	Somatic	0	78	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	71	66	51.82	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR	p.G538*	ENST00000359156.4	37	c.1612	CCDS8578.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.216559	0.97385	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	.	.	.	5.33	5.33	0.75918	.	0.394741	0.24907	N	0.034642	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.8765	0.86053	0.0:1.0:0.0:0.0	.	.	.	.	X	538;526;538;538	.	ENSP00000352071:G538X	G	-	1	0	CD163	7531759	0.337000	0.24766	0.960000	0.40013	0.626000	0.37791	4.669000	0.61575	2.663000	0.90544	0.655000	0.94253	GGA	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR		0.537	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD163	protein_coding	OTTHUMT00000399396.2	C	NM_004244, NM_203416	-		7640492	-1	no_errors	ENST00000359156	ensembl	human	known	74_37	nonsense	SNP	0.979	A
IKZF3	22806	genome.wustl.edu	37	17	37922593	37922593	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr17:37922593G>A	ENST00000346872.3	-	8	1041	c.980C>T	c.(979-981)cCg>cTg	p.P327L	IKZF3_ENST00000467757.1_Missense_Mutation_p.P271L|IKZF3_ENST00000346243.3_Missense_Mutation_p.P249L|IKZF3_ENST00000439016.2_Missense_Mutation_p.P232L|IKZF3_ENST00000351680.3_Missense_Mutation_p.P288L|IKZF3_ENST00000394189.2_Missense_Mutation_p.P145L|IKZF3_ENST00000350532.3_Missense_Mutation_p.P288L|IKZF3_ENST00000377958.2_Missense_Mutation_p.P240L|IKZF3_ENST00000535189.1_Missense_Mutation_p.P293L|IKZF3_ENST00000583368.1_Missense_Mutation_p.P80L|IKZF3_ENST00000377952.2_Missense_Mutation_p.P106L|IKZF3_ENST00000377945.3_Missense_Mutation_p.P193L|RP11-94L15.2_ENST00000488188.2_lincRNA|IKZF3_ENST00000439167.2_Missense_Mutation_p.P254L|IKZF3_ENST00000377944.3_Missense_Mutation_p.P184L	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	327					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGGAGCAGGCGGTGTCTGGAC	0.572																																																	0								ENSG00000161405						92.0	84.0	87.0					17																	37922593		2203	4300	6503	IKZF3	SO:0001583	missense	0			-	HGNC	AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13178	protein-coding gene	gene with protein product		606221	"""zinc finger protein, subfamily 1A, 3 (Aiolos)"""	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.980C>T	17.37:g.37922593G>A	ENSP00000344544:p.Pro327Leu	Somatic	0	46	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	46	47.13	B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P327L	ENST00000346872.3	37	c.980	CCDS11346.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.673847|4.673847	0.88445|0.88445	.|.	.|.	ENSG00000161405|ENSG00000161405	ENST00000488188;ENST00000346872;ENST00000377945;ENST00000394189;ENST00000377944;ENST00000377958;ENST00000377952;ENST00000535189;ENST00000351680;ENST00000346243;ENST00000350532;ENST00000467757|ENST00000439167;ENST00000439016	T;T;T;T;T;T;T;T;T;T|.	0.10382|.	3.13;3.33;3.1;2.88;3.43;3.14;3.13;3.14;2.92;4.1|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.000000|.	0.64402|.	D|.	0.000016|.	D|D	0.83436|0.83436	0.5254|0.5254	M|M	0.84511|0.84511	2.7|2.7	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;0.986;1.0;1.0;1.0;0.991|.	D;D;D;D;D;D;D;D;P;D;D;D;P|.	0.97110|.	1.0;0.966;0.966;0.966;1.0;0.971;1.0;0.966;0.629;0.964;1.0;1.0;0.772|.	D|D	0.83790|0.83790	0.0230|0.0230	10|5	0.44086|.	T|.	0.13|.	-9.5688|-9.5688	19.9156|19.9156	0.97061|0.97061	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	240;106;145;193;184;293;249;232;288;271;288;254;327|.	Q9UKT9-9;Q9UKT9-12;Q9UKT9-11;Q9UKT9-13;Q9UKT9-10;Q9UKT9-7;Q9UKT9-6;Q9UKT9-5;Q9UKT9-4;Q9UKT9-2;Q9UKT9-3;Q9UKT9-8;Q9UKT9|.	.;.;.;.;.;.;.;.;.;.;.;.;IKZF3_HUMAN|.	L|C	327;232;193;145;184;240;106;293;288;249;288;271|242;281	ENSP00000367180:P193L;ENSP00000377741:P145L;ENSP00000367179:P184L;ENSP00000367194:P240L;ENSP00000367188:P106L;ENSP00000438972:P293L;ENSP00000345622:P288L;ENSP00000341977:P249L;ENSP00000344471:P288L;ENSP00000420463:P271L|.	ENSP00000341977:P249L|.	P|R	-|-	2|1	0|0	IKZF3|IKZF3	35176119|35176119	1.000000|1.000000	0.71417|0.71417	0.225000|0.225000	0.23894|0.23894	0.795000|0.795000	0.44927|0.44927	9.869000|9.869000	0.99810|0.99810	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	CCG|CGC	-	NULL		0.572	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKZF3	protein_coding	OTTHUMT00000257004.2	G	NM_012481	-		37922593	-1	no_errors	ENST00000346872	ensembl	human	known	74_37	missense	SNP	0.998	A
GSN	2934	genome.wustl.edu	37	9	124045579	124045580	+	Intron	INS	-	-	T	rs559147471|rs56834014|rs398012096	byFrequency	TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr9:124045579_124045580insT	ENST00000373823.3	+	9	896				GSN_ENST00000412819.1_Intron|GSN_ENST00000341272.2_Intron|RP11-477J21.6_ENST00000437135.1_RNA|GSN_ENST00000373808.2_Intron|GSN-AS1_ENST00000414544.1_RNA|GSN_ENST00000436847.1_Intron|GSN_ENST00000394353.2_Intron|GSN_ENST00000449733.1_Intron			P06396	GELS_HUMAN	gelsolin						actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						ctttctttttcttttttttttt	0.46																																																	0								ENSG00000235865																																			GSN-AS1	SO:0001627	intron_variant	0				HGNC	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373823.3:c.-10+1739->T	9.37:g.124045590_124045590dupT		Somatic	0	13	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000373823.3	37	NULL	CCDS6829.1	9																																																																																			-	-		0.460	GSN-013	KNOWN	basic|appris_principal|CCDS	protein_coding	GSN-AS1	protein_coding	OTTHUMT00000254323.3	-	NM_000177			124045580	-1	no_errors	ENST00000414544	ensembl	human	known	74_37	rna	INS	0.004:0.003	T
TUNAR	100507043	genome.wustl.edu	37	14	96389258	96389258	+	lincRNA	SNP	G	G	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr14:96389258G>T	ENST00000503525.2	+	0	547					NR_038861.1																						GGACCATTCTGAACCTGATTG	0.463																																																	0								ENSG00000250366																																			LINC00617			0			-	HGNC																													14.37:g.96389258G>T		Somatic	0	39	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000503525.2	37	NULL		14																																																																																			-	-		0.463	LINC00617-002	KNOWN	basic	lincRNA	LINC00617	lincRNA	OTTHUMT00000413257.1	G		-		96389258	+1	no_errors	ENST00000503525	ensembl	human	known	74_37	rna	SNP	1.000	T
CELSR3	1951	genome.wustl.edu	37	3	48677609	48677609	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr3:48677609G>A	ENST00000164024.4	-	34	9689	c.9409C>T	c.(9409-9411)Cgc>Tgc	p.R3137C	CELSR3_ENST00000544264.1_Missense_Mutation_p.R3142C	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3137					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GACCCGAAGCGGCCAGCCATG	0.697																																																	0								ENSG00000008300						34.0	36.0	35.0					3																	48677609		2201	4286	6487	CELSR3	SO:0001583	missense	0			-	HGNC	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.9409C>T	3.37:g.48677609G>A	ENSP00000164024:p.Arg3137Cys	Somatic	0	121	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	92	135	40.53	O75092	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.R3142C	ENST00000164024.4	37	c.9424	CCDS2775.1	3	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669062	0.47677	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.71579	-0.58;-0.58	4.81	4.81	0.61882	.	.	.	.	.	T	0.73528	0.3598	L	0.27053	0.805	0.53688	D	0.999973	P;P;D	0.89917	0.669;0.539;1.0	B;B;D	0.80764	0.086;0.04;0.994	T	0.75814	-0.3185	9	0.62326	D	0.03	.	11.3281	0.49460	0.0:0.0:0.6829:0.3171	.	3142;3137;3235	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	C	3137;3142	ENSP00000164024:R3137C;ENSP00000445694:R3142C	ENSP00000164024:R3137C	R	-	1	0	CELSR3	48652613	0.999000	0.42202	0.999000	0.59377	0.935000	0.57460	1.733000	0.38156	2.209000	0.71365	0.555000	0.69702	CGC	-	NULL		0.697	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	protein_coding	OTTHUMT00000257523.1	G	NM_001407	-		48677609	-1	no_errors	ENST00000544264	ensembl	human	known	74_37	missense	SNP	0.987	A
PCDHB13	56123	genome.wustl.edu	37	5	140595974	140595974	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr5:140595974G>T	ENST00000341948.4	+	1	2466	c.2279G>T	c.(2278-2280)gGg>gTg	p.G760V		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	760					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGGCTCAGGGACCAATGAG	0.547																																																	0								ENSG00000187372						120.0	120.0	120.0					5																	140595974		2203	4300	6503	PCDHB13	SO:0001583	missense	0			-	HGNC	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.2279G>T	5.37:g.140595974G>T	ENSP00000345491:p.Gly760Val	Somatic	0	134	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	103	141	42.21	A8K9V6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G760V	ENST00000341948.4	37	c.2279	CCDS4255.1	5	.	.	.	.	.	.	.	.	.	.	-	10.81	1.456089	0.26161	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.50277	0.75	3.82	0.866	0.19079	.	.	.	.	.	T	0.51432	0.1674	M	0.93150	3.385	0.20074	N	0.999935	P	0.45011	0.848	B	0.39119	0.291	T	0.53373	-0.8448	9	0.66056	D	0.02	.	2.941	0.05830	0.1699:0.1389:0.5486:0.1426	.	760	Q9Y5F0	PCDBD_HUMAN	V	760;760;706	ENSP00000345491:G760V	ENSP00000345491:G760V	G	+	2	0	PCDHB13	140576158	0.000000	0.05858	0.010000	0.14722	0.002000	0.02628	-0.030000	0.12308	-0.068000	0.12953	0.305000	0.20034	GGG	-	NULL		0.547	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB13	protein_coding	OTTHUMT00000251810.1	G	NM_018933	-		140595974	+1	no_errors	ENST00000341948	ensembl	human	known	74_37	missense	SNP	0.015	T
GEMIN5	25929	genome.wustl.edu	37	5	154282137	154282137	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr5:154282137C>T	ENST00000285873.7	-	20	2903	c.2828G>A	c.(2827-2829)gGg>gAg	p.G943E		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	943					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGTCAGCTCCCCTCTTTCTGC	0.448																																																	0								ENSG00000082516						133.0	127.0	129.0					5																	154282137		2203	4300	6503	GEMIN5	SO:0001583	missense	0			-	HGNC	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.2828G>A	5.37:g.154282137C>T	ENSP00000285873:p.Gly943Glu	Somatic	0	54	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	43	48.19	Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G943E	ENST00000285873.7	37	c.2828	CCDS4330.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.136354	0.94517	.	.	ENSG00000082516	ENST00000285873	T	0.72505	-0.66	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.85665	0.5749	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85502	0.1192	10	0.66056	D	0.02	-20.6112	20.5948	0.99439	0.0:1.0:0.0:0.0	.	942;943	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	E	943	ENSP00000285873:G943E	ENSP00000285873:G943E	G	-	2	0	GEMIN5	154262330	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.822000	0.75277	2.873000	0.98535	0.563000	0.77884	GGG	-	NULL		0.448	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN5	protein_coding	OTTHUMT00000252507.1	C		-		154282137	-1	no_errors	ENST00000285873	ensembl	human	known	74_37	missense	SNP	1.000	T
RABGGTB	5876	genome.wustl.edu	37	1	76259678	76259714	+	Intron	DEL	CCTAAGAGTGAGACTTAACCCACTTTTAAATTGTTCT	CCTAAGAGTGAGACTTAACCCACTTTTAAATTGTTCT	-	rs372421559|rs377221880|rs75986168|rs141490560|rs377745023	byFrequency	TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	CCTAAGAGTGAGACTTAACCCACTTTTAAATTGTTCT	CCTAAGAGTGAGACTTAACCCACTTTTAAATTGTTCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr1:76259678_76259714delCCTAAGAGTGAGACTTAACCCACTTTTAAATTGTTCT	ENST00000319942.3	+	8	776				MSH4_ENST00000263187.3_5'Flank|RABGGTB_ENST00000535300.1_Intron|RABGGTB_ENST00000496055.1_Intron	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit						cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						CATCAGATTACCTAAGAGTGAGACTTAACCCACTTTTAAATTGTTCTCAAAATTAGG	0.376														911	0.181909	0.1604	0.2781	5008	,	,		24903	0.0169		0.2843	False		,,,				2504	0.2076																0								ENSG00000137955																																			RABGGTB	SO:0001627	intron_variant	0				HGNC	U49245	CCDS669.1	1p31	2008-02-05			ENSG00000137955	ENSG00000137955			9796	protein-coding gene	gene with protein product		179080				8706741, 8954794	Standard	NM_004582		Approved		uc001dgy.2	P53611	OTTHUMG00000009786	ENST00000319942.3:c.706-55CCTAAGAGTGAGACTTAACCCACTTTTAAATTGTTCT>-	1.37:g.76259678_76259714delCCTAAGAGTGAGACTTAACCCACTTTTAAATTGTTCT		Somatic	NA	NA	NA		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q92697	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000319942.3	37	NULL	CCDS669.1	1																																																																																			-	-		0.376	RABGGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGGTB	protein_coding	OTTHUMT00000026972.1	CCTAAGAGTGAGACTTAACCCACTTTTAAATTGTTCT	NM_004582			76259714	+1	no_errors	ENST00000459697	ensembl	human	known	74_37	rna	DEL	0.002:0.001:0.001:0.000:0.002:0.005:0.008:0.009:0.007:0.005:0.003:0.003:0.001:0.001:0.002:0.001:0.001:0.001:0.000:0.000:0.000:0.001:0.001:0.000:0.000:0.000:0.000:0.000:0.001:0.000:0.000:0.000:0.000:0.000:0.001:0.000:0.000	-
UGT1A5	54579	genome.wustl.edu	37	2	234621847	234621847	+	Missense_Mutation	SNP	A	A	C			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr2:234621847A>C	ENST00000373414.3	+	1	210	c.210A>C	c.(208-210)aaA>aaC	p.K70N	UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000608381.1_Missense_Mutation_p.K70N			P35504	UD15_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A5	70						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		TGTACATCAAAGAAGAGAACT	0.527																																																	0								ENSG00000240224						95.0	88.0	90.0					2																	234621847		2203	4300	6503	UGT1A5	SO:0001583	missense	0			-	HGNC	M84129	CCDS33404.1	2q37	2010-03-05	2005-07-20		ENSG00000240224	ENSG00000240224		"""UDP glucuronosyltransferases"""	12537	other	complex locus constituent		606430	"""UDP glycosyltransferase 1 family, polypeptide A5"""			9295054, 1339448	Standard	NM_019078		Approved	UGT1E		P35504	OTTHUMG00000059120	ENST00000373414.3:c.210A>C	2.37:g.234621847A>C	ENSP00000362513:p.Lys70Asn	Somatic	0	63	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	58	74	43.94	B8K294	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.K70N	ENST00000373414.3	37	c.210	CCDS33404.1	2	.	.	.	.	.	.	.	.	.	.	A	12.90	2.076696	0.36662	.	.	ENSG00000240224	ENST00000373414	T	0.61627	0.09	4.83	-0.411	0.12370	.	0.432837	0.26650	N	0.023218	T	0.62356	0.2421	L	0.58302	1.8	0.09310	N	1	D;D	0.60575	0.988;0.988	D;D	0.66979	0.948;0.948	T	0.52786	-0.8529	10	0.30078	T	0.28	.	6.1632	0.20376	0.3422:0.0:0.5147:0.1431	.	70;70	Q5DSZ9;P35504	.;UD15_HUMAN	N	70	ENSP00000362513:K70N	ENSP00000362513:K70N	K	+	3	2	UGT1A5	234286586	0.000000	0.05858	0.002000	0.10522	0.146000	0.21551	-2.157000	0.01282	-0.031000	0.13781	0.449000	0.29647	AAA	-	pfam_UDP_glucos_trans		0.527	UGT1A5-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A5	protein_coding	OTTHUMT00000130985.1	A	NM_019078	-		234621847	+1	no_errors	ENST00000373414	ensembl	human	known	74_37	missense	SNP	0.005	C
ZP4	57829	genome.wustl.edu	37	1	238048788	238048788	+	Silent	SNP	T	T	G			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr1:238048788T>G	ENST00000366570.4	-	8	1221	c.1063A>C	c.(1063-1065)Aga>Cga	p.R355R	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	355	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GGGTCTGTTCTGTGAAGGATG	0.537																																					NSCLC(166;160 2029 11600 18754 19936)												0								ENSG00000116996						65.0	65.0	65.0					1																	238048788		2203	4300	6503	ZP4	SO:0001819	synonymous_variant	0			-	HGNC	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.1063A>C	1.37:g.238048788T>G		Somatic	0	57	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	121	25.77	B2RAE1	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_ZP_dom,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.R355	ENST00000366570.4	37	c.1063	CCDS1615.1	1																																																																																			-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom		0.537	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZP4	protein_coding	OTTHUMT00000095476.1	T		-		238048788	-1	no_errors	ENST00000366570	ensembl	human	known	74_37	silent	SNP	0.844	G
C2orf54	79919	genome.wustl.edu	37	2	241835405	241835405	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr2:241835405G>T	ENST00000388934.4	-	1	168	c.10C>A	c.(10-12)Cct>Act	p.P4T		NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	4										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		GGGAGAGCAGGGGCAGGCATC	0.692																																																	0								ENSG00000172478						4.0	5.0	5.0					2																	241835405		1969	4036	6005	C2orf54	SO:0001583	missense	0			-	HGNC	AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.10C>A	2.37:g.241835405G>T	ENSP00000373586:p.Pro4Thr	Somatic	0	74	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	118	8.53	B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.P4T	ENST00000388934.4	37	c.10	CCDS42839.1	2	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385778	0.25031	.	.	ENSG00000172478	ENST00000388934;ENST00000414499	T	0.32272	1.46	1.38	0.406	0.16366	.	0.363539	0.19924	U	0.103006	T	0.14917	0.0360	L	0.27053	0.805	0.09310	N	1	B	0.28378	0.209	B	0.18263	0.021	T	0.11155	-1.0599	10	0.37606	T	0.19	9.026	3.2505	0.06812	0.3151:0.0:0.6849:0.0	.	4	Q08AI8	CB054_HUMAN	T	4	ENSP00000373586:P4T	ENSP00000373586:P4T	P	-	1	0	C2orf54	241484078	0.012000	0.17670	0.009000	0.14445	0.038000	0.13279	0.537000	0.23144	0.124000	0.18369	0.561000	0.74099	CCT	-	NULL		0.692	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C2orf54	protein_coding	OTTHUMT00000324353.1	G	NM_024861, NM_001085437	-		241835405	-1	no_errors	ENST00000388934	ensembl	human	known	74_37	missense	SNP	0.004	T
CHDC2	286464	genome.wustl.edu	37	X	36117934	36117934	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chrX:36117934A>G	ENST00000313548.4	+	7	976	c.790A>G	c.(790-792)Atg>Gtg	p.M264V		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	264						integral component of membrane (GO:0016021)											TGTTATAGAAATGTCTAAATT	0.328																																																	0								ENSG00000176034						92.0	98.0	96.0					X																	36117934		2202	4299	6501	CHDC2	SO:0001583	missense	0			-	HGNC	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.790A>G	X.37:g.36117934A>G	ENSP00000324767:p.Met264Val	Somatic	0	103	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	102	109	48.11		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain	p.M264V	ENST00000313548.4	37	c.790	CCDS14238.1	X	.	.	.	.	.	.	.	.	.	.	A	6.874	0.530601	0.13127	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	5.73	3.4	0.38934	.	0.554118	0.16414	N	0.215471	T	0.28599	0.0708	L	0.40543	1.245	0.09310	N	1	B	0.28082	0.2	B	0.19666	0.026	T	0.13980	-1.0489	9	0.28530	T	0.3	-4.088	6.0523	0.19792	0.725:0.0:0.275:0.0	.	264	Q8N9S7	CX059_HUMAN	V	264	.	ENSP00000324767:M264V	M	+	1	0	CXorf59	36027855	0.251000	0.23961	0.008000	0.14137	0.134000	0.20937	1.026000	0.30103	0.808000	0.34231	0.412000	0.27726	ATG	-	NULL		0.328	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CHDC2	protein_coding		A	NM_173695	-		36117934	+1	no_errors	ENST00000313548	ensembl	human	known	74_37	missense	SNP	0.003	G
SCIMP	388325	genome.wustl.edu	37	17	5126838	5126839	+	Intron	INS	-	-	T	rs371714640		TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chr17:5126838_5126839insT	ENST00000574081.1	-	2	126				RP11-333E1.1_ENST00000575601.1_RNA|SCIMP_ENST00000571800.1_Intron|RP11-333E1.1_ENST00000571689.1_RNA|RP11-333E1.1_ENST00000573772.1_RNA|SCIMP_ENST00000574297.1_Intron|SCIMP_ENST00000399600.4_Intron	NM_001271842.1|NM_207103.3	NP_001258771.1|NP_996986.1	Q6UWF3	SCIMP_HUMAN	SLP adaptor and CSK interacting membrane protein						positive regulation of ERK1 and ERK2 cascade (GO:0070374)	immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|membrane (GO:0016020)|tetraspanin-enriched microdomain (GO:0097197)|uropod membrane (GO:0031259)											ACTGTGGGttgttttttttttc	0.495																																																	0								ENSG00000261879																																			RP11-333E1.1	SO:0001627	intron_variant	0				Clone_based_vega_gene	AY358809	CCDS42242.1, CCDS62044.1	17p13.2	2011-11-24	2011-11-23	2011-11-23	ENSG00000161929	ENSG00000161929			33504	protein-coding gene	gene with protein product	"""SLP65/SLP76, Csk-interacting membrane protein"""	614406	"""chromosome 17 open reading frame 87"""	C17orf87		21930792	Standard	NM_207103		Approved	DTFT5783, UNQ5783, FLJ32580, MGC163426, MGC163428	uc002gbh.3	Q6UWF3	OTTHUMG00000132914	ENST00000574081.1:c.22-87->A	17.37:g.5126848_5126848dupT		Somatic	0	68	0.00		0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	51	10.53	A6XGL4|B4DLK1|Q96MD0	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000574081.1	37	NULL	CCDS42242.1	17																																																																																			-	-		0.495	SCIMP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LOC100130950	protein_coding	OTTHUMT00000256425.2	-	NM_207103			5126839	+1	no_errors	ENST00000575601	ensembl	human	known	74_37	rna	INS	0.000:0.000	T
FOXO4	4303	genome.wustl.edu	37	X	70320816	70320816	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A48O-01A-11D-A307-09	TCGA-DX-A48O-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e58860a-9757-4492-9d72-d8c3cfec34f4	8d3565e0-e65b-4328-bdf5-e1424e9d0ba8	g.chrX:70320816A>G	ENST00000374259.3	+	2	1068	c.736A>G	c.(736-738)Aac>Gac	p.N246D	FOXO4_ENST00000341558.3_Missense_Mutation_p.N191D	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	246					cell cycle arrest (GO:0007050)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mitotic G2 DNA damage checkpoint (GO:0007095)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of smooth muscle cell differentiation (GO:0051151)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					TTGCTCTCGAAACCGTGAAGA	0.587											OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000184481						33.0	33.0	33.0					X																	70320816		2015	4172	6187	FOXO4	SO:0001583	missense	0			-	HGNC		CCDS43969.1, CCDS55440.1	Xq13.1	2008-02-05	2007-05-02	2007-05-02	ENSG00000184481	ENSG00000184481		"""Forkhead boxes"""	7139	protein-coding gene	gene with protein product		300033	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 7"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7"""	MLLT7		7529552	Standard	NM_005938		Approved	AFX1	uc004dys.2	P98177	OTTHUMG00000021789	ENST00000374259.3:c.736A>G	X.37:g.70320816A>G	ENSP00000363377:p.Asn246Asp	Somatic	0	41	0.00	1121	0.6593491209674283	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	87	10.20	B7WPJ7|O43821|Q13720|Q3KPF1|Q8TDK9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.N246D	ENST00000374259.3	37	c.736	CCDS43969.1	X	.	.	.	.	.	.	.	.	.	.	A	12.65	2.001114	0.35320	.	.	ENSG00000184481	ENST00000374259;ENST00000341558	D;D	0.95377	-3.46;-3.69	5.11	5.11	0.69529	.	0.143832	0.64402	D	0.000010	D	0.89911	0.6852	N	0.14661	0.345	0.26441	N	0.975768	B;B;B	0.22211	0.008;0.066;0.015	B;B;B	0.24394	0.007;0.053;0.027	T	0.81571	-0.0872	10	0.35671	T	0.21	-26.1501	13.1883	0.59695	1.0:0.0:0.0:0.0	.	246;191;246	B4DTB6;P98177-2;P98177	.;.;FOXO4_HUMAN	D	246;191	ENSP00000363377:N246D;ENSP00000342209:N191D	ENSP00000342209:N191D	N	+	1	0	FOXO4	70237541	1.000000	0.71417	0.905000	0.35620	0.817000	0.46193	8.761000	0.91691	1.908000	0.55244	0.422000	0.28245	AAC	-	NULL		0.587	FOXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXO4	protein_coding	OTTHUMT00000057115.1	A	NM_005938	-		70320816	+1	no_errors	ENST00000374259	ensembl	human	known	74_37	missense	SNP	0.990	G
